#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
SLC24A4	123041	broad.mit.edu	37	14	92949145	92949145	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr14:92949145C>T	ENST00000532405.1	+	13	1603	c.1377C>T	c.(1375-1377)acC>acT	p.T459T	SLC24A4_ENST00000351924.5_Silent_p.T423T|SLC24A4_ENST00000531433.1_Silent_p.T440T|SLC24A4_ENST00000393265.2_Silent_p.T395T|SLC24A4_ENST00000298877.1_Silent_p.T442T			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	459					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CCTTCATCACCGCCACGCTGT	0.602																																					NSCLC(10;315 435 10383 28450 38798)	ENST00000532405.1																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36						c.(1375-1377)acC>acT		solute carrier family 24 (sodium/potassium/calcium exchanger), member 4							101.0	80.0	87.0					14																	92949145		2203	4300	6503	SO:0001819	synonymous_variant	123041					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr14:92949145C>T	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.1377C>T	14.37:g.92949145C>T						SLC24A4_ENST00000531433.1_Silent_p.T440T|SLC24A4_ENST00000351924.5_Silent_p.T423T|SLC24A4_ENST00000393265.2_Silent_p.T395T|SLC24A4_ENST00000298877.1_Silent_p.T442T	p.T459T			Q8NFF2	NCKX4_HUMAN		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)	13	1603	+		all_cancers(154;0.0347)|all_epithelial(191;0.163)	459					B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Silent	SNP	ENST00000532405.1	37	c.1377C>T	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	C	8.397	0.841056	0.16891	.	.	ENSG00000140090	ENST00000525557	.	.	.	5.74	-11.5	0.00074	.	.	.	.	.	T	0.41673	0.1169	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.54761	-0.8245	4	.	.	.	.	6.0271	0.19660	0.1316:0.1268:0.4833:0.2584	.	.	.	.	C	325	.	.	R	+	1	0	SLC24A4	92018898	0.000000	0.05858	0.009000	0.14445	0.956000	0.61745	-3.400000	0.00484	-3.428000	0.00165	-1.036000	0.02392	CGC		0.602	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		24	21	0	0	0	1	0	24	21				
SMC3	9126	broad.mit.edu	37	10	112362632	112362632	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr10:112362632C>T	ENST00000361804.4	+	27	3473	c.3347C>T	c.(3346-3348)tCa>tTa	p.S1116L		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	1116	Ala/Asp-rich (DA-box).				DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		CAACAGCTTTCAGGTGGACAG	0.398																																						ENST00000361804.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(3346-3348)tCa>tTa		structural maintenance of chromosomes 3							83.0	90.0	87.0					10																	112362632		2203	4297	6500	SO:0001583	missense	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112362632C>T	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.3347C>T	10.37:g.112362632C>T	ENSP00000354720:p.Ser1116Leu						p.S1116L	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	27	3473	+		Breast(234;0.0848)|Lung NSC(174;0.238)	1116			Ala/Asp-rich (DA-box).		A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	c.3347C>T	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500426	0.85176	.	.	ENSG00000108055	ENST00000361804	D	0.98947	-5.26	5.62	5.62	0.85841	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.99411	0.9792	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98732	1.0713	10	0.87932	D	0	.	19.6696	0.95907	0.0:1.0:0.0:0.0	.	1116	Q9UQE7	SMC3_HUMAN	L	1116	ENSP00000354720:S1116L	ENSP00000354720:S1116L	S	+	2	0	SMC3	112352622	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.772000	0.68889	2.665000	0.90641	0.585000	0.79938	TCA		0.398	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		29	97	0	0	0	1	0	29	97				
CRB1	23418	broad.mit.edu	37	1	197404461	197404461	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:197404461C>T	ENST00000367400.3	+	9	3603	c.3468C>T	c.(3466-3468)gaC>gaT	p.D1156D	CRB1_ENST00000544212.1_Silent_p.D637D|CRB1_ENST00000367399.2_Silent_p.D1044D|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Silent_p.D1132D|CRB1_ENST00000367397.1_Silent_p.D537D|RP11-75C23.1_ENST00000422250.1_RNA	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1156	EGF-like 15. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ACTGTGAAGACATCTATAGCT	0.443																																						ENST00000367397.1																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(1609-1611)gaC>gaT		crumbs homolog 1 (Drosophila)							127.0	103.0	111.0					1																	197404461		2203	4300	6503	SO:0001819	synonymous_variant	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197404461C>T		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.3468C>T	1.37:g.197404461C>T						CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367400.3_Silent_p.D1156D|CRB1_ENST00000544212.1_Silent_p.D637D|CRB1_ENST00000367399.2_Silent_p.D1044D|CRB1_ENST00000535699.1_Silent_p.D1132D	p.D537D			P82279	CRUM1_HUMAN			5	2469	+			1156			Laminin G-like 1.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	37	c.1611C>T	CCDS1390.1																																																																																				0.443	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		70	59	0	0	0	1	0	70	59				
MPI	4351	broad.mit.edu	37	15	75188726	75188726	+	Intron	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr15:75188726C>T	ENST00000352410.4	+	6	911				MPI_ENST00000563786.1_Intron|MPI_ENST00000323744.6_Intron|MPI_ENST00000566377.1_Intron|MPI_ENST00000563422.1_Silent_p.L302L|MPI_ENST00000535694.1_Intron|MPI_ENST00000562606.1_Silent_p.L282L|MPI_ENST00000564003.1_Silent_p.L191L			P34949	MPI_HUMAN	mannose phosphate isomerase						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	mannose-6-phosphate isomerase activity (GO:0004476)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						gtttccctatctggacaaagg	0.582																																						ENST00000563422.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(904-906)Ctg>Ttg		mannose phosphate isomerase																																				SO:0001627	intron_variant	4351				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding	g.chr15:75188726C>T		CCDS10272.1, CCDS73756.1, CCDS73757.1, CCDS73758.1	15q24.1	2013-09-19			ENSG00000178802	ENSG00000178802	5.3.1.8		7216	protein-coding gene	gene with protein product	"""mannose-6-phosphate isomerase"""	154550					Standard	NM_002435		Approved		uc002azc.1	P34949	OTTHUMG00000142826	ENST00000352410.4:c.844+60C>T	15.37:g.75188726C>T						MPI_ENST00000323744.6_Intron|MPI_ENST00000352410.4_Intron|MPI_ENST00000566377.1_Intron|MPI_ENST00000562606.1_Silent_p.L282L|MPI_ENST00000563786.1_Intron|MPI_ENST00000535694.1_Intron|MPI_ENST00000564003.1_Silent_p.L191L	p.L302L			P34949	MPI_HUMAN			6	936	+			0					A8K8K9|Q96AB0	Silent	SNP	ENST00000352410.4	37	c.904C>T	CCDS10272.1																																																																																				0.582	MPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286418.4			4	12	0	0	0	1	0	4	12				
KRT38	8687	broad.mit.edu	37	17	39594463	39594463	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr17:39594463C>T	ENST00000246646.3	-	6	1122	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	375	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GCCCGGATCTCAGACAGCTGC	0.612																																						ENST00000246646.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29						c.(1123-1125)Gag>Aag		keratin 38							71.0	66.0	67.0					17																	39594463		2203	4300	6503	SO:0001583	missense	8687					intermediate filament	structural molecule activity	g.chr17:39594463C>T	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6456	protein-coding gene	gene with protein product		604542	"""keratin, hair, acidic, 8"""	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.1123G>A	17.37:g.39594463C>T	ENSP00000246646:p.Glu375Lys						p.E375K	NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN			6	1122	-		Breast(137;0.000496)	375			Coil 2.|Rod.		A2RRM5|Q6A164	Missense_Mutation	SNP	ENST00000246646.3	37	c.1123G>A	CCDS11392.1	.	.	.	.	.	.	.	.	.	.	.	16.01	3.002524	0.54254	.	.	ENSG00000171360	ENST00000246646	D	0.89123	-2.47	4.63	3.67	0.42095	Filament (1);	0.000000	0.49916	D	0.000139	D	0.84871	0.5568	L	0.48260	1.515	0.22851	N	0.99866	P	0.44139	0.827	B	0.42827	0.399	T	0.78375	-0.2228	10	0.72032	D	0.01	.	8.466	0.32956	0.0:0.8029:0.0:0.1971	.	375	O76015	KRT38_HUMAN	K	375	ENSP00000246646:E375K	ENSP00000246646:E375K	E	-	1	0	KRT38	36847989	0.000000	0.05858	0.814000	0.32528	0.914000	0.54420	0.070000	0.14573	1.193000	0.43086	0.655000	0.94253	GAG		0.612	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		25	40	0	0	0	1	0	25	40				
KRT19	3880	broad.mit.edu	37	17	39680030	39680030	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr17:39680030G>A	ENST00000361566.3	-	6	1228	c.1168C>T	c.(1168-1170)Cac>Tac	p.H390Y	KRT15_ENST00000393976.2_5'Flank|KRT15_ENST00000393974.3_5'Flank|KRT15_ENST00000254043.3_5'Flank	NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	390	Necessary for interaction with PNN.|Rod-like helical tail.				cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				TTGTTGTAGTGATCTTCCTGT	0.582																																						ENST00000361566.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12						c.(1168-1170)Cac>Tac		keratin 19							61.0	54.0	56.0					17																	39680030		2203	4300	6503	SO:0001583	missense	3880							g.chr17:39680030G>A		CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6436	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 19"", ""keratin, type I, 40-kd"", ""cytokeratin 19"", ""40-kDa keratin intermediate filament"""	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.1168C>T	17.37:g.39680030G>A	ENSP00000355124:p.His390Tyr						p.H390Y	NM_002276.4	NP_002267.2					6	1228	-		Breast(137;0.00038)						B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Missense_Mutation	SNP	ENST00000361566.3	37	c.1168C>T	CCDS11399.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.927530	0.34002	.	.	ENSG00000171345	ENST00000361566	D	0.82433	-1.61	5.03	1.69	0.24217	.	0.613232	0.14559	N	0.312147	T	0.78329	0.4266	M	0.65498	2.005	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.69628	-0.5094	10	0.72032	D	0.01	.	6.0915	0.19997	0.3525:0.0:0.6475:0.0	.	553;390	B4DE59;P08727	.;K1C19_HUMAN	Y	390	ENSP00000355124:H390Y	ENSP00000355124:H390Y	H	-	1	0	KRT19	36933556	0.004000	0.15560	0.001000	0.08648	0.243000	0.25628	0.923000	0.28757	0.391000	0.25143	0.561000	0.74099	CAC		0.582	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257285.1	NM_002276		16	45	0	0	0	1	0	16	45				
PCDHA11	56138	broad.mit.edu	37	5	140250862	140250862	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:140250862C>T	ENST00000398640.2	+	1	2174	c.2174C>T	c.(2173-2175)aCg>aTg	p.T725M	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	725					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTCGGCAACGCCCACTGAG	0.667																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(2173-2175)aCg>aTg									33.0	34.0	33.0					5																	140250862		2202	4300	6502	SO:0001583	missense	56138							g.chr5:140250862C>T	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.2174C>T	5.37:g.140250862C>T	ENSP00000381636:p.Thr725Met					PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron	p.T725M	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2174	+								B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.2174C>T	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	c	1.771	-0.484282	0.04383	.	.	ENSG00000249158	ENST00000398640	T	0.11821	2.74	4.6	0.2	0.15181	.	.	.	.	.	T	0.09598	0.0236	L	0.39633	1.23	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.10450	0.005;0.001	T	0.37407	-0.9707	9	0.30854	T	0.27	.	3.5026	0.07679	0.2876:0.434:0.0:0.2784	.	725;725	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	M	725	ENSP00000381636:T725M	ENSP00000381636:T725M	T	+	2	0	PCDHA11	140231046	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.067000	0.11579	-0.333000	0.08476	-0.755000	0.03482	ACG		0.667	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		24	40	0	0	0	1	0	24	40				
LOC150776	150776	broad.mit.edu	37	2	132276720	132276720	+	RNA	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr2:132276720C>T	ENST00000438378.2	+	0	2040					NR_026922.1																						TCCTTCCTCTCATGGCTGGGC	0.597																																						ENST00000438378.2																			0																																																			150776							g.chr2:132276720C>T																													2.37:g.132276720C>T								NR_026922.1						0	2040	+									RNA	SNP	ENST00000438378.2	37																																																																																						0.597	AC093838.4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000331819.7			7	29	0	0	0	1	0	7	29				
IL19	29949	broad.mit.edu	37	1	207010082	207010082	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:207010082C>T	ENST00000270218.6	+	3	1014	c.75C>T	c.(73-75)ctC>ctT	p.L25L	IL19_ENST00000340758.2_Silent_p.L63L	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19	25					apoptotic process (GO:0006915)|immune response (GO:0006955)|interleukin-6 biosynthetic process (GO:0042226)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|reactive oxygen species metabolic process (GO:0072593)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			ACCACGGTCTCAGGAGATGTC	0.458																																						ENST00000270218.6																			0				central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7						c.(73-75)ctC>ctT		interleukin 19							190.0	179.0	183.0					1																	207010082		2203	4300	6503	SO:0001819	synonymous_variant	29949				apoptosis|immune response|signal transduction	extracellular space	cytokine activity	g.chr1:207010082C>T	AF192498	CCDS1468.1, CCDS1469.1	1q32.2	2008-07-18			ENSG00000142224	ENSG00000142224		"""Interleukins and interleukin receptors"""	5990	protein-coding gene	gene with protein product	"""melanoma differentiation associated protein-like protein"""	605687				11196675	Standard	NM_153758		Approved	IL-19, MDA1, ZMDA1, IL-10C, NG.1	uc001heo.3	Q9UHD0	OTTHUMG00000036387	ENST00000270218.6:c.75C>T	1.37:g.207010082C>T						IL19_ENST00000340758.2_Silent_p.L63L	p.L25L	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		3	1014	+			25					B6VEV9|Q5VUT3|Q96QR4|Q9NUA0	Silent	SNP	ENST00000270218.6	37	c.75C>T	CCDS1469.1																																																																																				0.458	IL19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088567.2	NM_153758		43	218	0	0	0	1	0	43	218				
ESPL1	9700	broad.mit.edu	37	12	53675381	53675381	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:53675381C>T	ENST00000257934.4	+	13	2681	c.2590C>T	c.(2590-2592)Cga>Tga	p.R864*	ESPL1_ENST00000552462.1_Nonsense_Mutation_p.R864*	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	864					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TGATCTGCTTCGAAGTCAACT	0.453																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(2590-2592)Cga>Tga		extra spindle pole bodies homolog 1 (S. cerevisiae)							172.0	150.0	157.0					12																	53675381		2203	4300	6503	SO:0001587	stop_gained	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53675381C>T	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.2590C>T	12.37:g.53675381C>T	ENSP00000257934:p.Arg864*					ESPL1_ENST00000552462.1_Nonsense_Mutation_p.R864*	p.R864*	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			13	2681	+			864						Nonsense_Mutation	SNP	ENST00000257934.4	37	c.2590C>T	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	C	40	8.003819	0.98605	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	.	.	.	5.1	3.2	0.36748	.	1.005060	0.07997	N	0.988111	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3292	0.32175	0.1963:0.6443:0.1594:0.0	.	.	.	.	X	864;539;864	.	ENSP00000257934:R864X	R	+	1	2	ESPL1	51961648	0.007000	0.16637	0.001000	0.08648	0.968000	0.65278	0.665000	0.25083	0.763000	0.33175	0.561000	0.74099	CGA		0.453	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		64	100	0	0	0	1	0	64	100				
TBC1D10A	83874	broad.mit.edu	37	22	30691791	30691791	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr22:30691791C>T	ENST00000215790.7	-	4	623	c.459G>A	c.(457-459)gtG>gtA	p.V153V	TBC1D10A_ENST00000403362.1_Silent_p.V65V|RP1-130H16.18_ENST00000447976.1_Silent_p.V27V|TBC1D10A_ENST00000403477.3_Silent_p.V160V	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	153	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CACGCTCAATCACGTCCAGCC	0.627																																						ENST00000215790.7																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(457-459)gtG>gtA		TBC1 domain family, member 10A							57.0	50.0	52.0					22																	30691791		2203	4300	6503	SO:0001819	synonymous_variant	83874					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	g.chr22:30691791C>T	AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"""EBP50-PDZ interactor of 64 kD"""	610020	"""TBC1 domain family, member 10"""	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.459G>A	22.37:g.30691791C>T						TBC1D10A_ENST00000403477.3_Silent_p.V160V|RP1-130H16.18_ENST00000447976.1_Silent_p.V27V|TBC1D10A_ENST00000403362.1_Silent_p.V65V	p.V153V	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN			4	623	-			153			Rab-GAP TBC.		B3KXT8|O76053|Q20WK7|Q543A2	Silent	SNP	ENST00000215790.7	37	c.459G>A	CCDS13874.1																																																																																				0.627	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	NM_031937		10	28	0	0	0	1	0	10	28				
ZNF835	90485	broad.mit.edu	37	19	57175433	57175433	+	Silent	SNP	G	G	A	rs535214865	byFrequency	TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:57175433G>A	ENST00000537055.2	-	2	1365	c.1134C>T	c.(1132-1134)ctC>ctT	p.L378L		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	378					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGCGGTGCTGGAGGAGGTGGG	0.667													.|||	5	0.000998403	0.0	0.0	5008	,	,		16512	0.004		0.0	False		,,,				2504	0.001					ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(1132-1134)ctC>ctT		zinc finger protein 835							24.0	26.0	25.0					19																	57175433		2195	4294	6489	SO:0001819	synonymous_variant	90485							g.chr19:57175433G>A	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.1134C>T	19.37:g.57175433G>A							p.L378L	NM_001005850.2	NP_001005850.2					2	1365	-								B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	c.1134C>T	CCDS56105.1																																																																																				0.667	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		8	36	0	0	0	1	0	8	36				
MAGI2	9863	broad.mit.edu	37	7	77797320	77797320	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:77797320T>G	ENST00000354212.4	-	15	2762	c.2509A>C	c.(2509-2511)Acc>Ccc	p.T837P	MAGI2_ENST00000522391.1_Missense_Mutation_p.T837P|MAGI2_ENST00000419488.1_Missense_Mutation_p.T823P	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	837	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TAGCGGTGGGTTTTGCCGGCT	0.552																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(2509-2511)Acc>Ccc		membrane associated guanylate kinase, WW and PDZ domain containing 2							172.0	155.0	161.0					7																	77797320		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77797320T>G	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2509A>C	7.37:g.77797320T>G	ENSP00000346151:p.Thr837Pro					MAGI2_ENST00000419488.1_Missense_Mutation_p.T823P|MAGI2_ENST00000522391.1_Missense_Mutation_p.T837P	p.T837P	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			15	2762	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	837			PDZ 4.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.2509A>C	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.754802	0.49362	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.49432	0.78;0.86;0.86	5.96	5.96	0.96718	PDZ/DHR/GLGF (4);	0.000000	0.37483	U	0.002069	T	0.36193	0.0958	N	0.20304	0.555	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.003	T	0.10823	-1.0613	10	0.51188	T	0.08	.	15.6258	0.76855	0.0:0.0:0.0:1.0	.	837;823;837	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	P	823;837;837;837	ENSP00000405766:T823P;ENSP00000346151:T837P;ENSP00000428389:T837P	ENSP00000346151:T837P	T	-	1	0	MAGI2	77635256	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.402000	0.52608	2.284000	0.76573	0.528000	0.53228	ACC		0.552	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		175	77	0	0	0	1	0	175	77				
DPP6	1804	broad.mit.edu	37	7	154595624	154595624	+	Silent	SNP	C	C	T	rs373754267	byFrequency	TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:154595624C>T	ENST00000377770.3	+	14	1599	c.1458C>T	c.(1456-1458)gaC>gaT	p.D486D	DPP6_ENST00000404039.1_Silent_p.D422D|DPP6_ENST00000427557.1_Silent_p.D379D|DPP6_ENST00000332007.3_Silent_p.D424D			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	486					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GGGACTGGGACGTGACCAAGA	0.557													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19961	0.0		0.0	False		,,,				2504	0.001				NSCLC(125;1384 1783 2490 7422 34254)	ENST00000404039.1																			0				NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.(1264-1266)gaC>gaT		dipeptidyl-peptidase 6		C	,,	3,4153		0,3,2075	71.0	75.0	74.0		912,831,831	-0.5	1.0	7		74	7,8359		0,7,4176	no	coding-synonymous,coding-synonymous,coding-synonymous	DPP6	NM_001039350.1,NM_001936.3,NM_130797.2	,,	0,10,6251	TT,TC,CC		0.0837,0.0722,0.0799	,,	304/684,277/657,277/657	154595624	10,12512	2078	4183	6261	SO:0001819	synonymous_variant	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154595624C>T	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1458C>T	7.37:g.154595624C>T						DPP6_ENST00000427557.1_Silent_p.D379D|DPP6_ENST00000332007.3_Silent_p.D424D|DPP6_ENST00000377770.3_Silent_p.D486D	p.D422D	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		14	1853	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	486						Silent	SNP	ENST00000377770.3	37	c.1266C>T																																																																																					0.557	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		7	30	0	0	0	1	0	7	30				
POLD3	10714	broad.mit.edu	37	11	74351802	74351802	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr11:74351802G>C	ENST00000263681.2	+	12	1521	c.1392G>C	c.(1390-1392)caG>caC	p.Q464H	POLD3_ENST00000527458.1_Missense_Mutation_p.Q425H|POLD3_ENST00000532497.1_Missense_Mutation_p.Q358H	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	464					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					GCTTCTTCCAGAGGAAATAAA	0.468																																						ENST00000263681.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18						c.(1390-1392)caG>caC		polymerase (DNA-directed), delta 3, accessory subunit							55.0	54.0	54.0					11																	74351802		2200	4293	6493	SO:0001583	missense	10714				base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding	g.chr11:74351802G>C	D26018	CCDS8233.1	11q14	2014-06-13			ENSG00000077514	ENSG00000077514		"""DNA polymerases"""	20932	protein-coding gene	gene with protein product	"""DNA polymerase delta subunit p66"", ""Pol delta C subunit (p66)"", ""protein phosphatase 1, regulatory subunit 128"""	611415				10219083	Standard	NM_006591		Approved	P66, KIAA0039, P68, PPP1R128	uc001ovf.2	Q15054	OTTHUMG00000165621	ENST00000263681.2:c.1392G>C	11.37:g.74351802G>C	ENSP00000263681:p.Gln464His					POLD3_ENST00000527458.1_Missense_Mutation_p.Q425H|POLD3_ENST00000532497.1_Missense_Mutation_p.Q358H	p.Q464H	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN			12	1521	+	Breast(11;3.21e-06)		464					B7ZAI6|Q32MZ9|Q32N00	Missense_Mutation	SNP	ENST00000263681.2	37	c.1392G>C	CCDS8233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.56|19.56	3.850306|3.850306	0.71719|0.71719	.|.	.|.	ENSG00000077514|ENSG00000077514	ENST00000532954|ENST00000263681;ENST00000527458;ENST00000532497	.|.	.|.	.|.	5.75|5.75	4.84|4.84	0.62591|0.62591	.|.	.|0.048933	.|0.85682	.|N	.|0.000000	T|T	0.78419|0.78419	0.4280|0.4280	M|M	0.75264|0.75264	2.295|2.295	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.76494	.|0.999	.|D	.|0.87578	.|0.998	T|T	0.80888|0.80888	-0.1181|-0.1181	5|9	.|0.62326	.|D	.|0.03	-39.7547|-39.7547	14.6783|14.6783	0.68998|0.68998	0.0:0.1461:0.8539:0.0|0.0:0.1461:0.8539:0.0	.|.	.|464	.|Q15054	.|DPOD3_HUMAN	Q|H	87|464;425;358	.|.	.|ENSP00000263681:Q464H	E|Q	+|+	1|3	0|2	POLD3|POLD3	74029450|74029450	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	4.819000|4.819000	0.62664|0.62664	1.414000|1.414000	0.47017|0.47017	-0.172000|-0.172000	0.13284|0.13284	GAG|CAG		0.468	POLD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385376.1	NM_006591		26	50	0	0	0	1	0	26	50				
PGC	5225	broad.mit.edu	37	6	41712219	41712219	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr6:41712219G>A	ENST00000373025.3	-	3	306	c.244C>T	c.(244-246)Cca>Tca	p.P82S	PGC_ENST00000425343.2_Missense_Mutation_p.P82S	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	82					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TTCTGGGGTGGAGTCCCGATG	0.617																																						ENST00000373025.3																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16						c.(244-246)Cca>Tca		progastricsin (pepsinogen C)							63.0	65.0	64.0					6																	41712219		2203	4300	6503	SO:0001583	missense	5225				digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity	g.chr6:41712219G>A		CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.244C>T	6.37:g.41712219G>A	ENSP00000362116:p.Pro82Ser					PGC_ENST00000425343.2_Missense_Mutation_p.P82S	p.P82S	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		3	306	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		82					B4DVZ3|Q5T3D7|Q5T3D8	Missense_Mutation	SNP	ENST00000373025.3	37	c.244C>T	CCDS4859.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.368772	0.61624	.	.	ENSG00000096088	ENST00000373025;ENST00000394278;ENST00000425343;ENST00000415707	T;D;D	0.81499	-0.51;-1.5;-1.5	4.79	4.79	0.61399	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.92795	0.7709	H	0.96777	3.88	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	D	0.94956	0.8104	10	0.87932	D	0	.	17.6692	0.88212	0.0:0.0:1.0:0.0	.	82	P20142	PEPC_HUMAN	S	82;82;82;86	ENSP00000362116:P82S;ENSP00000405094:P82S;ENSP00000399429:P86S	ENSP00000362116:P82S	P	-	1	0	PGC	41820197	1.000000	0.71417	0.998000	0.56505	0.022000	0.10575	8.905000	0.92613	2.523000	0.85059	0.585000	0.79938	CCA		0.617	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040521.2			33	105	0	0	0	1	0	33	105				
PCDHA6	56142	broad.mit.edu	37	5	140209500	140209500	+	Silent	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:140209500G>A	ENST00000529310.1	+	1	1938	c.1824G>A	c.(1822-1824)tcG>tcA	p.S608S	PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	608	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S608S(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGCTTTCGTATGAGCTGC	0.657																																						ENST00000529310.1																			2	Substitution - coding silent(2)	p.S608S(2)	endometrium(2)	NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1822-1824)tcG>tcA									81.0	82.0	82.0					5																	140209500		2203	4300	6503	SO:0001819	synonymous_variant	56142							g.chr5:140209500G>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1824G>A	5.37:g.140209500G>A						PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	p.S608S	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1938	+								O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.1824G>A	CCDS47281.1																																																																																				0.657	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		43	52	0	0	0	1	0	43	52				
DLEC1	9940	broad.mit.edu	37	3	38103718	38103718	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:38103718G>C	ENST00000308059.6	+	4	753	c.732G>C	c.(730-732)caG>caC	p.Q244H	DLEC1_ENST00000346219.3_Missense_Mutation_p.Q244H|DLEC1_ENST00000452631.2_Missense_Mutation_p.Q244H					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GTTCCGTCCAGAAGAAAGAGC	0.453																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(730-732)caG>caC		deleted in lung and esophageal cancer 1							100.0	91.0	94.0					3																	38103718		1958	4170	6128	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38103718G>C	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.732G>C	3.37:g.38103718G>C	ENSP00000308597:p.Gln244His					DLEC1_ENST00000452631.2_Missense_Mutation_p.Q244H|DLEC1_ENST00000346219.3_Missense_Mutation_p.Q244H	p.Q244H			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	4	753	+			244						Missense_Mutation	SNP	ENST00000308059.6	37	c.732G>C	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	5.341	0.248306	0.10130	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05081	3.53;3.5;3.75	3.7	-7.4	0.01397	.	1.210850	0.05468	N	0.552577	T	0.02380	0.0073	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.46925	-0.9156	10	0.24483	T	0.36	-0.0269	6.9462	0.24520	0.2215:0.4001:0.3784:0.0	.	244;244;244	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	H	244	ENSP00000308597:Q244H;ENSP00000315914:Q244H;ENSP00000410427:Q244H	ENSP00000308597:Q244H	Q	+	3	2	DLEC1	38078722	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-1.893000	0.01609	-1.547000	0.01715	-0.238000	0.12139	CAG		0.453	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		29	73	0	0	0	1	0	29	73				
RFPL3	10738	broad.mit.edu	37	22	32756289	32756289	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr22:32756289G>A	ENST00000249007.4	+	2	629	c.424G>A	c.(424-426)Gac>Aac	p.D142N	RFPL3S_ENST00000400234.1_3'UTR|RFPL3S_ENST00000382084.4_3'UTR|RFPL3S_ENST00000461833.1_5'Flank|RFPL3_ENST00000397468.1_Missense_Mutation_p.D113N|RFPL3_ENST00000382088.3_Missense_Mutation_p.D113N	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	142	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						CCTCATTTCTGACGACCTCAG	0.532																																						ENST00000249007.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						c.(424-426)Gac>Aac		ret finger protein-like 3							126.0	115.0	118.0					22																	32756289		2203	4300	6503	SO:0001583	missense	10738						zinc ion binding	g.chr22:32756289G>A	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.424G>A	22.37:g.32756289G>A	ENSP00000249007:p.Asp142Asn					RFPL3S_ENST00000400234.1_3'UTR|RFPL3_ENST00000382088.3_Missense_Mutation_p.D113N|RFPL3S_ENST00000382084.4_3'UTR|RFPL3_ENST00000397468.1_Missense_Mutation_p.D113N	p.D142N	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN			2	629	+			142			B30.2/SPRY.		A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Missense_Mutation	SNP	ENST00000249007.4	37	c.424G>A	CCDS43011.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.039305	0.35989	.	.	ENSG00000128276	ENST00000397468;ENST00000249007;ENST00000382088	T;T;T	0.11604	2.76;2.76;2.76	0.664	0.664	0.17890	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.14227	0.0344	L	0.52364	1.645	0.80722	D	1	B	0.30686	0.29	B	0.42087	0.375	T	0.12091	-1.0561	9	0.87932	D	0	.	7.1611	0.25664	1.0E-4:0.0:0.9999:0.0	.	142	O75679	RFPL3_HUMAN	N	113;142;113	ENSP00000380609:D113N;ENSP00000249007:D142N;ENSP00000371520:D113N	ENSP00000249007:D142N	D	+	1	0	RFPL3	31086289	0.000000	0.05858	0.194000	0.23346	0.041000	0.13682	0.592000	0.23984	0.624000	0.30286	0.194000	0.17425	GAC		0.532	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		45	92	0	0	0	1	0	45	92				
DHX29	54505	broad.mit.edu	37	5	54585191	54585191	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:54585191C>T	ENST00000251636.5	-	8	1121	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	325						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TTTTTCCTTTCATTTTGTTGA	0.333																																						ENST00000251636.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46						c.(973-975)Gaa>Aaa		DEAH (Asp-Glu-Ala-His) box polypeptide 29							66.0	68.0	67.0					5																	54585191		2203	4299	6502	SO:0001583	missense	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54585191C>T	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.973G>A	5.37:g.54585191C>T	ENSP00000251636:p.Glu325Lys					RP11-506H20.1_ENST00000506435.1_RNA	p.E325K	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN			8	1121	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	325					O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	ENST00000251636.5	37	c.973G>A	CCDS34158.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639211	0.67244	.	.	ENSG00000067248	ENST00000251636	T	0.46063	0.88	6.06	6.06	0.98353	.	0.041740	0.85682	D	0.000000	T	0.42245	0.1194	L	0.45581	1.43	0.58432	D	0.999999	B	0.18610	0.029	B	0.15052	0.012	T	0.11203	-1.0597	10	0.38643	T	0.18	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	325	Q7Z478	DHX29_HUMAN	K	325	ENSP00000251636:E325K	ENSP00000251636:E325K	E	-	1	0	DHX29	54620948	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.862000	0.62976	2.880000	0.98712	0.650000	0.86243	GAA		0.333	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		24	30	0	0	0	1	0	24	30				
WDR16	146845	broad.mit.edu	37	17	9532073	9532073	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr17:9532073C>T	ENST00000352665.5	+	9	1179	c.1110C>T	c.(1108-1110)atC>atT	p.I370I	WDR16_ENST00000396219.3_Silent_p.I302I|WDR16_ENST00000299764.5_Silent_p.I380I	NM_145054.4	NP_659491.4			WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						TGCTGCGGATCACCGTGCCCA	0.542																																						ENST00000352665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1108-1110)atC>atT		WD repeat domain 16							139.0	98.0	112.0					17																	9532073		2203	4300	6503	SO:0001819	synonymous_variant	146845					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr17:9532073C>T	AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"""WD repeat domain containing"""	16053	protein-coding gene	gene with protein product	"""WD40-repeat protein upregulated in HCC"""	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000352665.5:c.1110C>T	17.37:g.9532073C>T						WDR16_ENST00000299764.5_Silent_p.I380I|WDR16_ENST00000396219.3_Silent_p.I302I	p.I370I	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN			9	1179	+			370						Silent	SNP	ENST00000352665.5	37	c.1110C>T	CCDS11149.2																																																																																				0.542	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316569.2	NM_145054		27	40	0	0	0	1	0	27	40				
COG4	25839	broad.mit.edu	37	16	70543161	70543161	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr16:70543161G>T	ENST00000323786.5	-	7	996	c.975C>A	c.(973-975)ttC>ttA	p.F325L	COG4_ENST00000393612.4_Missense_Mutation_p.F321L	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	321					Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TTTGCTTGATGAACTTGTCTA	0.483																																						ENST00000323786.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33						c.(973-975)ttC>ttA		component of oligomeric golgi complex 4							203.0	178.0	186.0					16																	70543161		2198	4300	6498	SO:0001583	missense	25839				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:70543161G>T	AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"""Components of oligomeric golgi complex"""	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.975C>A	16.37:g.70543161G>T	ENSP00000315775:p.Phe325Leu					COG4_ENST00000393612.4_Missense_Mutation_p.F321L	p.F325L	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN			7	996	-		Ovarian(137;0.0694)	321					B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Missense_Mutation	SNP	ENST00000323786.5	37	c.975C>A	CCDS10892.2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475877	0.84640	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000393612	T;T	0.60424	0.45;0.19	5.56	4.61	0.57282	Conserved oligomeric Golgi complex, subunit 4 (2);	0.000000	0.85682	D	0.000000	T	0.68568	0.3015	M	0.67953	2.075	0.80722	D	1	D;D	0.69078	0.997;0.972	D;P	0.65573	0.936;0.794	T	0.70651	-0.4813	10	0.87932	D	0	-18.2104	6.9741	0.24664	0.2934:0.0:0.7066:0.0	.	320;321	Q6PIW8;Q9H9E3	.;COG4_HUMAN	L	325;321;321	ENSP00000315775:F325L;ENSP00000377236:F321L	ENSP00000315775:F325L	F	-	3	2	COG4	69100662	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.920000	0.56446	1.355000	0.45865	0.655000	0.94253	TTC		0.483	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250326.3			45	77	1	0	8.20599e-20	1	8.59306e-20	45	77				
GRM7	2917	broad.mit.edu	37	3	7188201	7188201	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:7188201C>G	ENST00000357716.4	+	2	856	c.582C>G	c.(580-582)ttC>ttG	p.F194L	GRM7_ENST00000389336.4_Missense_Mutation_p.F194L|GRM7_ENST00000402647.2_Missense_Mutation_p.F194L|GRM7_ENST00000486284.1_Missense_Mutation_p.F194L|GRM7_ENST00000403881.1_Missense_Mutation_p.F194L	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	194					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						GCTATGACTTCTTCTCTCGCG	0.537																																						ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(580-582)ttC>ttG		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						136.0	120.0	125.0					3																	7188201		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7188201C>G	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.582C>G	3.37:g.7188201C>G	ENSP00000350348:p.Phe194Leu					GRM7_ENST00000357716.4_Missense_Mutation_p.F194L|GRM7_ENST00000403881.1_Missense_Mutation_p.F194L|GRM7_ENST00000402647.2_Missense_Mutation_p.F194L|GRM7_ENST00000389336.4_Missense_Mutation_p.F194L	p.F194L	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			2	856	+			194					Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.582C>G	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303121	0.81136	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05	5.87	5.87	0.94306	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.85362	0.5679	L	0.49513	1.565	0.80722	D	1	B;B;P	0.40638	0.206;0.245;0.725	B;B;P	0.47786	0.164;0.184;0.557	D	0.83944	0.0313	10	0.44086	T	0.13	.	12.4728	0.55797	0.0:0.9233:0.0:0.0767	.	194;194;194	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	L	194	ENSP00000350348:F194L;ENSP00000417536:F194L;ENSP00000373987:F194L;ENSP00000385664:F194L;ENSP00000384585:F194L	ENSP00000350348:F194L	F	+	3	2	GRM7	7163201	1.000000	0.71417	1.000000	0.80357	0.472000	0.32918	2.666000	0.46799	2.941000	0.99782	0.655000	0.94253	TTC		0.537	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		44	118	0	0	0	1	0	44	118				
PLA2G7	7941	broad.mit.edu	37	6	46678347	46678347	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr6:46678347C>G	ENST00000274793.7	-	8	908	c.712G>C	c.(712-714)Gac>Cac	p.D238H	PLA2G7_ENST00000541026.1_Missense_Mutation_p.D111H|PLA2G7_ENST00000537365.1_Missense_Mutation_p.D238H|PLA2G7_ENST00000538237.1_Missense_Mutation_p.D193H	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	238					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TGATCAATGTCAAGAATCAGA	0.323																																						ENST00000274793.7																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14						c.(712-714)Gac>Cac		phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)							115.0	113.0	114.0					6																	46678347		2203	4300	6503	SO:0001583	missense	7941				inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr6:46678347C>G	U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.712G>C	6.37:g.46678347C>G	ENSP00000274793:p.Asp238His					PLA2G7_ENST00000541026.1_Missense_Mutation_p.D111H|PLA2G7_ENST00000538237.1_Missense_Mutation_p.D193H|PLA2G7_ENST00000537365.1_Missense_Mutation_p.D238H	p.D238H	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	Lung(136;0.192)		8	908	-			238					A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	ENST00000274793.7	37	c.712G>C	CCDS4917.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369845	0.61624	.	.	ENSG00000146070	ENST00000274793;ENST00000537365;ENST00000538237;ENST00000541026	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	6.03	4.22	0.49857	.	0.569195	0.20634	N	0.088530	T	0.45094	0.1325	M	0.69358	2.11	0.39488	D	0.967991	D;B;D;D	0.71674	0.993;0.357;0.998;0.998	P;B;P;P	0.61275	0.852;0.044;0.886;0.886	T	0.47497	-0.9113	10	0.39692	T	0.17	.	5.6212	0.17457	0.1557:0.6357:0.0:0.2086	.	111;193;238;238	B4DLM5;F5GYY6;A8K2W6;Q13093	.;.;.;PAFA_HUMAN	H	238;238;193;111	ENSP00000274793:D238H;ENSP00000445666:D238H;ENSP00000441416:D193H;ENSP00000444164:D111H	ENSP00000274793:D238H	D	-	1	0	PLA2G7	46786306	1.000000	0.71417	0.548000	0.28192	0.981000	0.71138	1.229000	0.32600	0.822000	0.34565	0.655000	0.94253	GAC		0.323	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1			54	125	0	0	0	1	0	54	125				
DAP3	7818	broad.mit.edu	37	1	155686886	155686886	+	Silent	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:155686886G>A	ENST00000368336.5	+	3	259	c.135G>A	c.(133-135)ccG>ccA	p.P45P	DAP3_ENST00000496863.1_3'UTR|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000343043.3_Silent_p.P45P|DAP3_ENST00000421487.2_Silent_p.P45P|DAP3_ENST00000471642.2_Intron|DAP3_ENST00000465375.1_Silent_p.P45P|DAP3_ENST00000535183.1_Intron	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	45					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TTGAGAGTCCGAGAGCTATTT	0.473																																						ENST00000368336.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(133-135)ccG>ccA		death associated protein 3							98.0	99.0	99.0					1																	155686886		2203	4300	6503	SO:0001819	synonymous_variant	7818				induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding	g.chr1:155686886G>A	X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"""Mitochondrial ribosomal proteins / small subunits"""	2673	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S29"""	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.135G>A	1.37:g.155686886G>A						DAP3_ENST00000535183.1_Intron|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000343043.3_Silent_p.P45P|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000421487.2_Silent_p.P45P|DAP3_ENST00000471214.1_3'UTR	p.P45P	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN			3	259	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		45					B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Silent	SNP	ENST00000368336.5	37	c.135G>A	CCDS1120.1																																																																																				0.473	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086042.1	NM_004632		17	133	0	0	0	1	0	17	133				
ZNF573	126231	broad.mit.edu	37	19	38230601	38230601	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:38230601G>A	ENST00000590414.2	-	4	811	c.790C>T	c.(790-792)Cat>Tat	p.H264Y	ZNF573_ENST00000536220.1_Missense_Mutation_p.H176Y|ZNF573_ENST00000339503.4_Missense_Mutation_p.H206Y|ZNF573_ENST00000392138.1_Missense_Mutation_p.H177Y|ZNF573_ENST00000357309.3_Missense_Mutation_p.H176Y			Q86YE8	ZN573_HUMAN	zinc finger protein 573	264					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			ACTCTCTGATGAATTCTAAGA	0.428																																						ENST00000339503.4																			0				NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(616-618)Cat>Tat		zinc finger protein 573							121.0	115.0	117.0					19																	38230601		2203	4300	6503	SO:0001583	missense	126231				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38230601G>A	AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"""Zinc fingers, C2H2-type"", ""-"""	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.790C>T	19.37:g.38230601G>A	ENSP00000465020:p.His264Tyr					ZNF573_ENST00000357309.3_Missense_Mutation_p.H176Y|ZNF573_ENST00000536220.1_Missense_Mutation_p.H176Y|ZNF573_ENST00000392138.1_Missense_Mutation_p.H177Y|ZNF573_ENST00000590414.2_Missense_Mutation_p.H264Y	p.H206Y	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)		8	1117	-			244					B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Missense_Mutation	SNP	ENST00000590414.2	37	c.616C>T	CCDS59381.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840549	0.51057	.	.	ENSG00000189144	ENST00000392138;ENST00000536220;ENST00000357309;ENST00000339503;ENST00000427026	D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17	2.33	2.33	0.28932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93520	0.7932	H	0.95328	3.655	0.26211	N	0.9793	D;D;D;D	0.59767	0.986;0.969;0.975;0.969	P;P;P;P	0.55749	0.741;0.676;0.783;0.676	D	0.86632	0.1886	9	0.87932	D	0	.	11.3896	0.49806	0.0:0.0:1.0:0.0	.	177;206;244;176	Q86YE8-4;Q86YE8-3;Q86YE8;Q86YE8-2	.;.;ZN573_HUMAN;.	Y	177;176;176;206;176	ENSP00000375983:H177Y;ENSP00000440464:H176Y;ENSP00000349861:H176Y;ENSP00000340171:H206Y	ENSP00000340171:H206Y	H	-	1	0	ZNF573	42922441	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	5.217000	0.65252	1.131000	0.42111	0.585000	0.79938	CAT		0.428	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459773.2	NM_152360		68	165	0	0	0	1	0	68	165				
IGFN1	91156	broad.mit.edu	37	1	201193890	201193890	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:201193890C>T	ENST00000335211.4	+	21	10504	c.10374C>T	c.(10372-10374)ctC>ctT	p.L3458L	RP11-567E21.3_ENST00000453155.1_RNA|IGFN1_ENST00000295591.8_Intron	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	1001						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGGATGGCCTCACCCAGCTTC	0.572																																						ENST00000335211.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(10372-10374)ctC>ctT		immunoglobulin-like and fibronectin type III domain containing 1							118.0	87.0	97.0					1																	201193890		2203	4300	6503	SO:0001819	synonymous_variant	91156							g.chr1:201193890C>T	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.10374C>T	1.37:g.201193890C>T						IGFN1_ENST00000295591.8_Intron	p.L3458L	NM_001164586.1	NP_001158058.1					21	10504	+								F8WAI1|Q9NT72	Silent	SNP	ENST00000335211.4	37	c.10374C>T	CCDS53455.1	.	.	.	.	.	.	.	.	.	.	C	6.117	0.389778	0.11581	.	.	ENSG00000163395	ENST00000412892	.	.	.	4.11	1.07	0.20283	.	.	.	.	.	T	0.51432	0.1674	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35549	-0.9784	4	.	.	.	.	5.3709	0.16138	0.0:0.5029:0.3156:0.1815	.	.	.	.	Y	876	.	.	H	+	1	0	IGFN1	199460513	0.016000	0.18221	0.999000	0.59377	0.777000	0.43975	-0.004000	0.12878	0.039000	0.15632	-0.339000	0.08088	CAC		0.572	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		18	62	0	0	0	1	0	18	62				
GFM2	84340	broad.mit.edu	37	5	74018254	74018254	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:74018254G>A	ENST00000296805.3	-	20	2618	c.2161C>T	c.(2161-2163)Cgc>Tgc	p.R721C	GFM2_ENST00000345239.2_Missense_Mutation_p.R674C|RNU6-658P_ENST00000384606.1_RNA|GFM2_ENST00000515125.1_5'UTR|GFM2_ENST00000509430.1_Missense_Mutation_p.R721C	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2											breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TTGTCCTGGCGAGTCTGAATT	0.403																																						ENST00000296805.3																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14						c.(2161-2163)Cgc>Tgc		G elongation factor, mitochondrial 2							154.0	151.0	152.0					5																	74018254		2203	4300	6503	SO:0001583	missense	84340				mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity	g.chr5:74018254G>A	AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.2161C>T	5.37:g.74018254G>A	ENSP00000296805:p.Arg721Cys					GFM2_ENST00000345239.2_Missense_Mutation_p.R674C|GFM2_ENST00000515125.1_5'UTR|GFM2_ENST00000509430.1_Missense_Mutation_p.R721C	p.R721C	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)	20	2618	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)	721						Missense_Mutation	SNP	ENST00000296805.3	37	c.2161C>T	CCDS4023.1	.	.	.	.	.	.	.	.	.	.	G	34	5.299501	0.95574	.	.	ENSG00000164347	ENST00000296805;ENST00000345239;ENST00000546082;ENST00000509430	T;T;T	0.64438	-0.1;-0.1;-0.1	6.06	6.06	0.98353	Elongation factor G/III/V (1);Translation elongation factor EFG/EF2, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.84383	0.5460	M	0.90082	3.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.975;0.998;0.985	D	0.86078	0.1542	10	0.87932	D	0	-10.5271	20.6243	0.99512	0.0:0.0:1.0:0.0	.	719;674;721	Q969S9-3;Q969S9-2;Q969S9	.;.;RRF2M_HUMAN	C	721;674;543;721	ENSP00000296805:R721C;ENSP00000296804:R674C;ENSP00000427004:R721C	ENSP00000296805:R721C	R	-	1	0	GFM2	74054010	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.660000	0.83776	2.879000	0.98667	0.650000	0.86243	CGC		0.403	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2	NM_032380		49	106	0	0	0	1	0	49	106				
MYOM2	9172	broad.mit.edu	37	8	2054178	2054178	+	Missense_Mutation	SNP	G	G	T	rs140995511		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr8:2054178G>T	ENST00000262113.4	+	22	3022	c.2881G>T	c.(2881-2883)Gtg>Ttg	p.V961L	MYOM2_ENST00000523438.1_Missense_Mutation_p.V386L	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	961	Ig-like C2-type 3.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AATCGAAACCGTGGGGGATCA	0.448																																						ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(2881-2883)Gtg>Ttg		myomesin 2		G	LEU/VAL	0,4406		0,0,2203	99.0	98.0	98.0		2881	3.5	0.0	8	dbSNP_134	98	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYOM2	NM_003970.2	32	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	benign	961/1466	2054178	1,13005	2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2054178G>T		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2881G>T	8.37:g.2054178G>T	ENSP00000262113:p.Val961Leu					MYOM2_ENST00000523438.1_Missense_Mutation_p.V386L	p.V961L	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	22	3022	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	961			Ig-like C2-type 3.		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.2881G>T	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.919383	0.33908	0.0	1.16E-4	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.40476	1.03;1.03	5.31	3.48	0.39840	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.630111	0.16529	N	0.210440	T	0.32071	0.0817	L	0.36672	1.1	0.09310	N	1	B	0.21688	0.059	B	0.15870	0.014	T	0.22906	-1.0203	10	0.52906	T	0.07	.	9.8365	0.40973	0.2774:0.0:0.7226:0.0	.	961	P54296	MYOM2_HUMAN	L	961;386	ENSP00000262113:V961L;ENSP00000428396:V386L	ENSP00000262113:V961L	V	+	1	0	MYOM2	2041585	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	1.301000	0.33447	1.207000	0.43291	0.563000	0.77884	GTG		0.448	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		16	95	1	0	7.26314e-15	1	7.55821e-15	16	95				
POU2F2	5452	broad.mit.edu	37	19	42599758	42599758	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:42599758C>T	ENST00000526816.2	-	10	908	c.893G>A	c.(892-894)cGc>cAc	p.R298H	POU2F2_ENST00000560398.1_Missense_Mutation_p.R304H|POU2F2_ENST00000389341.5_Missense_Mutation_p.R282H|POU2F2_ENST00000533720.1_Missense_Mutation_p.R282H|POU2F2_ENST00000560558.1_Missense_Mutation_p.R243H|POU2F2_ENST00000529952.1_Missense_Mutation_p.R298H|POU2F2_ENST00000342301.4_Missense_Mutation_p.R298H|POU2F2_ENST00000529067.1_Missense_Mutation_p.R282H			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	298					cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	CCTCTTCTTGCGTCTCCGGCC	0.647																																						ENST00000389341.5																			0				kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(844-846)cGc>cAc		POU class 2 homeobox 2							31.0	33.0	32.0					19																	42599758		2203	4300	6503	SO:0001583	missense	5452				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:42599758C>T		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.893G>A	19.37:g.42599758C>T	ENSP00000431603:p.Arg298His					POU2F2_ENST00000529952.1_Missense_Mutation_p.R298H|POU2F2_ENST00000560558.1_Missense_Mutation_p.R243H|POU2F2_ENST00000560398.1_Missense_Mutation_p.R304H|POU2F2_ENST00000529067.1_Missense_Mutation_p.R282H|POU2F2_ENST00000526816.2_Missense_Mutation_p.R298H|POU2F2_ENST00000342301.4_Missense_Mutation_p.R298H|POU2F2_ENST00000533720.1_Missense_Mutation_p.R282H	p.R282H	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN			10	911	-		Prostate(69;0.059)	298					Q16648|Q7M4M8|Q9BRS4	Missense_Mutation	SNP	ENST00000526816.2	37	c.845G>A	CCDS56095.1	.	.	.	.	.	.	.	.	.	.	C	33	5.279369	0.95489	.	.	ENSG00000028277	ENST00000389341;ENST00000342301;ENST00000292077;ENST00000533720;ENST00000526816;ENST00000529067;ENST00000529952	D;D;D;D;D;D	0.97303	-4.33;-4.33;-4.33;-3.85;-4.33;-4.33	4.09	4.09	0.47781	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99089	0.9687	H	0.98507	4.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;1.0	D	0.98779	1.0731	10	0.87932	D	0	.	15.6188	0.76790	0.0:1.0:0.0:0.0	.	282;298;282	P09086-4;P09086;P09086-3	.;PO2F2_HUMAN;.	H	282;298;298;282;297;282;298	ENSP00000373992:R282H;ENSP00000339369:R298H;ENSP00000437221:R282H;ENSP00000431603:R297H;ENSP00000437224:R282H;ENSP00000436988:R298H	ENSP00000292077:R298H	R	-	2	0	POU2F2	47291598	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.600000	0.82769	2.271000	0.75665	0.655000	0.94253	CGC		0.647	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3			8	29	0	0	0	1	0	8	29				
TGM4	7047	broad.mit.edu	37	3	44951844	44951844	+	Silent	SNP	G	G	A	rs528006561		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:44951844G>A	ENST00000296125.4	+	11	1658	c.1590G>A	c.(1588-1590)tcG>tcA	p.S530S		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	530					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	ATAAGACCTCGCAGATCCAAG	0.507																																						ENST00000296125.4																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(1588-1590)tcG>tcA		transglutaminase 4	L-Glutamine(DB00130)						61.0	58.0	59.0					3																	44951844		2203	4300	6503	SO:0001819	synonymous_variant	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44951844G>A	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.1590G>A	3.37:g.44951844G>A							p.S530S	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	11	1658	+			530					Q16707|Q96QN4	Silent	SNP	ENST00000296125.4	37	c.1590G>A	CCDS2723.1																																																																																				0.507	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		27	63	0	0	0	1	0	27	63				
SLITRK4	139065	broad.mit.edu	37	X	142718807	142718807	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:142718807A>G	ENST00000381779.4	-	2	343	c.118T>C	c.(118-120)Tat>Cat	p.Y40H	SLITRK4_ENST00000338017.4_Missense_Mutation_p.Y40H|SLITRK4_ENST00000356928.1_Missense_Mutation_p.Y40H	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	40						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CAGTTGACATAGAGCACATTC	0.373																																						ENST00000381779.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(118-120)Tat>Cat		SLIT and NTRK-like family, member 4							72.0	66.0	68.0					X																	142718807		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142718807A>G	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.118T>C	X.37:g.142718807A>G	ENSP00000371198:p.Tyr40His					SLITRK4_ENST00000338017.4_Missense_Mutation_p.Y40H|SLITRK4_ENST00000356928.1_Missense_Mutation_p.Y40H	p.Y40H	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	343	-	Acute lymphoblastic leukemia(192;6.56e-05)		40					Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.118T>C	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	A	6.238	0.411983	0.11812	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.52295	0.67;0.67;0.67	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.30448	0.0765	N	0.14661	0.345	0.80722	D	1	B	0.15719	0.014	B	0.18871	0.023	T	0.12708	-1.0537	10	0.14656	T	0.56	-8.5878	13.5168	0.61545	1.0:0.0:0.0:0.0	.	40	Q8IW52	SLIK4_HUMAN	H	40	ENSP00000371198:Y40H;ENSP00000349400:Y40H;ENSP00000336627:Y40H	ENSP00000336627:Y40H	Y	-	1	0	SLITRK4	142546473	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.962000	0.70364	1.876000	0.54355	0.486000	0.48141	TAT		0.373	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		5	163	0	0	0	1	0	5	163				
ZIC1	7545	broad.mit.edu	37	3	147127991	147127991	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:147127991G>A	ENST00000282928.4	+	1	821	c.92G>A	c.(91-93)cGa>cAa	p.R31Q		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	31					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GTGGCCGAACGAGACGTGGGC	0.706																																						ENST00000282928.4																			0				central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(91-93)cGa>cAa		Zic family member 1							29.0	31.0	31.0					3																	147127991		2191	4279	6470	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147127991G>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.92G>A	3.37:g.147127991G>A	ENSP00000282928:p.Arg31Gln						p.R31Q	NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN			1	821	+			31					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.92G>A	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.996334	0.93167	.	.	ENSG00000152977	ENST00000282928	T	0.12465	2.68	3.72	3.72	0.42706	.	0.000000	0.85682	D	0.000000	T	0.34948	0.0915	M	0.68593	2.085	0.46823	D	0.999216	D	0.69078	0.997	D	0.73380	0.98	T	0.26849	-1.0091	10	0.72032	D	0.01	.	15.4935	0.75632	0.0:0.0:1.0:0.0	.	31	Q15915	ZIC1_HUMAN	Q	31	ENSP00000282928:R31Q	ENSP00000282928:R31Q	R	+	2	0	ZIC1	148610681	1.000000	0.71417	0.995000	0.50966	0.968000	0.65278	9.613000	0.98350	1.625000	0.50366	0.442000	0.29010	CGA		0.706	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		11	38	0	0	0	1	0	11	38				
ERG	2078	broad.mit.edu	37	21	39764247	39764247	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr21:39764247C>T	ENST00000429727.2	-	4	548	c.508G>A	c.(508-510)Gac>Aac	p.D170N	ERG_ENST00000398911.1_Intron|ERG_ENST00000453032.2_Intron|ERG_ENST00000442448.1_Intron|ERG_ENST00000398897.1_Intron|ERG_ENST00000398910.1_Intron|ERG_ENST00000398907.1_Intron|ERG_ENST00000398919.2_Intron|ERG_ENST00000417133.2_Intron|ERG_ENST00000288319.7_Intron|ERG_ENST00000398905.1_Intron			Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CATCAACAGTCATCCACTGCC	0.473			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""																																Esophageal Squamous(130;336 1700 3010 3083 40589)	ENST00000429727.2				Dom	yes		21	21q22.3	2078	T	v-ets erythroblastosis virus E26 oncogene like (avian)			"""M, E, L"""	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""		"""Ewing sarcoma, prostate, AML"""	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	0				lung(2)|ovary(1)|skin(1)	4						c.(508-510)Gac>Aac		v-ets avian erythroblastosis virus E26 oncogene homolog							28.0	20.0	23.0					21																	39764247		2189	4251	6440	SO:0001583	missense	2078				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:39764247C>T		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"""v-ets avian erythroblastosis virus E26 oncogene related"", ""transcriptional regulator ERG (transforming protein ERG)"", ""v-ets erythroblastosis virus E26 oncogene like"", ""TMPRSS2-ERG prostate cancer specific"""	165080	"""v-ets avian erythroblastosis virus E26 oncogene related"""			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000429727.2:c.508G>A	21.37:g.39764247C>T	ENSP00000415659:p.Asp170Asn					ERG_ENST00000417133.2_Intron|ERG_ENST00000398907.1_Intron|ERG_ENST00000398897.1_Intron|ERG_ENST00000288319.7_Intron|ERG_ENST00000398910.1_Intron|ERG_ENST00000453032.2_Intron|ERG_ENST00000398905.1_Intron|ERG_ENST00000442448.1_Intron|ERG_ENST00000398911.1_Intron|ERG_ENST00000398919.2_Intron	p.D170N			P11308	ERG_HUMAN			4	548	-		Prostate(19;3.6e-06)	0			PNT.		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000429727.2	37	c.508G>A		.	.	.	.	.	.	.	.	.	.	C	12.87	2.067743	0.36470	.	.	ENSG00000157554	ENST00000429727	.	.	.	4.26	-8.52	0.00920	.	.	.	.	.	T	0.24699	0.0599	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33471	-0.9867	7	0.87932	D	0	.	5.4784	0.16708	0.1012:0.3685:0.4084:0.1218	.	170	B4E3C5	.	N	170	.	ENSP00000415659:D170N	D	-	1	0	ERG	38686117	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.212000	0.02994	-2.042000	0.00914	-0.302000	0.09304	GAC		0.473	ERG-201	KNOWN	basic	protein_coding	protein_coding		NM_182918		4	5	0	0	0	1	0	4	5				
PDK4	5166	broad.mit.edu	37	7	95215081	95215081	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:95215081C>T	ENST00000005178.5	-	11	1305	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	370					cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|negative regulation of anoikis (GO:2000811)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|reactive oxygen species metabolic process (GO:0072593)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of bone resorption (GO:0045124)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			TCTATAGACTCAGAAGACAAA	0.378																																						ENST00000005178.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1108-1110)Gag>Aag		pyruvate dehydrogenase kinase, isozyme 4							56.0	56.0	56.0					7																	95215081		2203	4300	6503	SO:0001583	missense	5166				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr7:95215081C>T	U54617	CCDS5643.1	7q21.3-q22.1	2008-07-18	2005-11-16		ENSG00000004799	ENSG00000004799			8812	protein-coding gene	gene with protein product		602527	"""pyruvate dehydrogenase kinase, isoenzyme 4"""			7499431	Standard	NM_002612		Approved		uc003uoa.3	Q16654	OTTHUMG00000153977	ENST00000005178.5:c.1108G>A	7.37:g.95215081C>T	ENSP00000005178:p.Glu370Lys						p.E370K	NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		11	1305	-	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		370						Missense_Mutation	SNP	ENST00000005178.5	37	c.1108G>A	CCDS5643.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717272	0.68844	.	.	ENSG00000004799	ENST00000005178;ENST00000542888	T	0.30981	1.51	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.38983	0.1061	M	0.80746	2.51	0.80722	D	1	P	0.39551	0.678	B	0.37731	0.257	T	0.35649	-0.9780	10	0.24483	T	0.36	.	18.4658	0.90753	0.0:1.0:0.0:0.0	.	370	Q16654	PDK4_HUMAN	K	370;334	ENSP00000005178:E370K	ENSP00000005178:E370K	E	-	1	0	PDK4	95053017	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	7.651000	0.83577	2.671000	0.90904	0.557000	0.71058	GAG		0.378	PDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333298.1	NM_002612		19	63	0	0	0	1	0	19	63				
MRO	83876	broad.mit.edu	37	18	48331680	48331680	+	Silent	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr18:48331680G>C	ENST00000428869.2	-	6	531	c.273C>G	c.(271-273)ctC>ctG	p.L91L	MRO_ENST00000436348.2_Silent_p.L105L|MRO_ENST00000256425.2_Silent_p.L91L|MRO_ENST00000588444.1_Silent_p.L91L|MRO_ENST00000398439.3_Silent_p.L91L|MRO_ENST00000587291.1_5'UTR|MRO_ENST00000431965.2_Silent_p.L105L			Q9BYG7	MSTRO_HUMAN	maestro	91						nucleolus (GO:0005730)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		CCAGCAGGTCGAGGACAATTT	0.463																																						ENST00000428869.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10						c.(271-273)ctC>ctG		maestro							99.0	82.0	88.0					18																	48331680		2203	4300	6503	SO:0001819	synonymous_variant	83876					nucleolus	binding	g.chr18:48331680G>C	AK054702	CCDS11947.1, CCDS45867.1, CCDS45868.1, CCDS45869.1	18q21	2012-12-19	2004-06-15		ENSG00000134042	ENSG00000134042		"""maestro heat-like repeat containing"""	24121	protein-coding gene	gene with protein product	"""B29 protein"", ""beside the Ma29 deletion"""	608080	"""chromosome 18 open reading frame 3"""	C18orf3		11401430	Standard	NM_031939		Approved	B29, FLJ30140	uc010dpa.3	Q9BYG7	OTTHUMG00000132692	ENST00000428869.2:c.273C>G	18.37:g.48331680G>C						MRO_ENST00000588444.1_Silent_p.L91L|MRO_ENST00000436348.2_Silent_p.L105L|MRO_ENST00000398439.3_Silent_p.L91L|MRO_ENST00000587291.1_5'UTR|MRO_ENST00000256425.2_Silent_p.L91L|MRO_ENST00000431965.2_Silent_p.L105L	p.L91L			Q9BYG7	MSTRO_HUMAN		Colorectal(21;0.082)	6	531	-		Colorectal(6;0.0596)	91					B7Z2I5|B7Z3B2|E9PAT5|E9PBI3|K7EKJ8|Q8N6K5	Silent	SNP	ENST00000428869.2	37	c.273C>G	CCDS11947.1																																																																																				0.463	MRO-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449478.2	NM_031939		39	54	0	0	0	1	0	39	54				
MFSD5	84975	broad.mit.edu	37	12	53647820	53647820	+	Silent	SNP	C	C	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:53647820C>A	ENST00000329548.4	+	2	1392	c.1201C>A	c.(1201-1203)Cga>Aga	p.R401R	MFSD5_ENST00000534842.1_Silent_p.R508R	NM_032889.4	NP_116278.3	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	401					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R401*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						TGACAGTGATCGAAAAACAGG	0.547																																						ENST00000534842.1																			1	Substitution - Nonsense(1)	p.R401*(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						c.(1522-1524)Cga>Aga		major facilitator superfamily domain containing 5							158.0	135.0	143.0					12																	53647820		2203	4300	6503	SO:0001819	synonymous_variant	84975				transport	integral to membrane		g.chr12:53647820C>A	AK097576	CCDS8851.1, CCDS53796.1	12q13.13	2012-03-09			ENSG00000182544	ENSG00000182544			28156	protein-coding gene	gene with protein product							Standard	NM_032889		Approved	MGC11308	uc001sch.2	Q6N075	OTTHUMG00000170028	ENST00000329548.4:c.1201C>A	12.37:g.53647820C>A						MFSD5_ENST00000329548.4_Silent_p.R401R	p.R508R	NM_001170790.1	NP_001164261.1	Q6N075	MFSD5_HUMAN			2	1669	+			401					G3V1N7|Q6NW04|Q8N7W8|Q8NCK0|Q96IA5	Silent	SNP	ENST00000329548.4	37	c.1522C>A	CCDS8851.1																																																																																				0.547	MFSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406896.1	NM_032889		38	69	1	0	3.76114e-14	1	3.90174e-14	38	69				
TLN2	83660	broad.mit.edu	37	15	63125727	63125727	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr15:63125727G>C	ENST00000561311.1	+	54	7257	c.7027G>C	c.(7027-7029)Gag>Cag	p.E2343Q	TLN2_ENST00000306829.6_Missense_Mutation_p.E2343Q|RP11-1069G10.1_ENST00000558404.1_RNA|RP11-1069G10.1_ENST00000558888.1_RNA			Q9Y4G6	TLN2_HUMAN	talin 2	2343	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CCTGGACTTTGAGGAACAGAT	0.498																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(7027-7029)Gag>Cag		talin 2							156.0	158.0	157.0					15																	63125727		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63125727G>C	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.7027G>C	15.37:g.63125727G>C	ENSP00000453508:p.Glu2343Gln					RP11-1069G10.1_ENST00000558888.1_RNA|TLN2_ENST00000306829.6_Missense_Mutation_p.E2343Q	p.E2343Q			Q9Y4G6	TLN2_HUMAN			54	7257	+			2343			I/LWEQ.		A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.7027G>C	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	32	5.185209	0.94885	.	.	ENSG00000171914	ENST00000306829	T	0.30448	1.53	5.73	5.73	0.89815	I/LWEQ (4);	0.000000	0.85682	D	0.000000	T	0.55097	0.1899	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51395	-0.8711	10	0.54805	T	0.06	-24.7807	19.9031	0.96996	0.0:0.0:1.0:0.0	.	2343	Q9Y4G6	TLN2_HUMAN	Q	2343	ENSP00000303476:E2343Q	ENSP00000303476:E2343Q	E	+	1	0	TLN2	60912780	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.710000	0.92621	0.561000	0.74099	GAG		0.498	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			28	111	0	0	0	1	0	28	111				
EIF4E1B	253314	broad.mit.edu	37	5	176072440	176072440	+	Silent	SNP	C	C	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:176072440C>G	ENST00000318682.6	+	8	1121	c.537C>G	c.(535-537)gtC>gtG	p.V179V	TSPAN17_ENST00000503045.1_5'Flank|TSPAN17_ENST00000298564.10_5'Flank|TSPAN17_ENST00000515708.1_5'Flank|TSPAN17_ENST00000310032.8_5'Flank|TSPAN17_ENST00000405525.2_5'Flank|TSPAN17_ENST00000508164.1_5'Flank|EIF4E1B_ENST00000512734.1_3'UTR|EIF4E1B_ENST00000504597.1_Silent_p.V179V	NM_001099408.1	NP_001092878.1	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E family member 1B	179					regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)	translation initiation factor activity (GO:0003743)			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCCGTCGTCAACATCCGCA	0.622																																						ENST00000318682.6																			0				breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5						c.(535-537)gtC>gtG		eukaryotic translation initiation factor 4E family member 1B							68.0	78.0	74.0					5																	176072440		2138	4237	6375	SO:0001819	synonymous_variant	253314				regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity	g.chr5:176072440C>G		CCDS47345.1	5q35.2	2008-06-12			ENSG00000175766	ENSG00000175766			33179	protein-coding gene	gene with protein product						16191198	Standard	NM_001099408		Approved	FLJ36951	uc010jkf.1	A6NMX2	OTTHUMG00000163227	ENST00000318682.6:c.537C>G	5.37:g.176072440C>G						EIF4E1B_ENST00000504597.1_Silent_p.V179V|EIF4E1B_ENST00000512734.1_3'UTR	p.V179V	NM_001099408.1	NP_001092878.1	A6NMX2	I4E1B_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1121	+	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	179						Silent	SNP	ENST00000318682.6	37	c.537C>G	CCDS47345.1																																																																																				0.622	EIF4E1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372187.1	NM_001099408		19	38	0	0	0	1	0	19	38				
PSMD2	5708	broad.mit.edu	37	3	184020171	184020171	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:184020171G>A	ENST00000310118.4	+	6	1276	c.718G>A	c.(718-720)Gtg>Atg	p.V240M	PSMD2_ENST00000439383.1_Missense_Mutation_p.V110M|PSMD2_ENST00000435761.1_Missense_Mutation_p.V81M|EIF2B5_ENST00000444495.1_Intron	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	240					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	TGTGAATTACGTGCCTGAGCC	0.428																																					Colon(24;313 636 6917 9932 15554)	ENST00000310118.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27						c.(718-720)Gtg>Atg		proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	Bortezomib(DB00188)						125.0	114.0	117.0					3																	184020171		2203	4300	6503	SO:0001583	missense	5708				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr3:184020171G>A	AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"""Proteasome (prosome, macropain) subunits"""	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.718G>A	3.37:g.184020171G>A	ENSP00000310129:p.Val240Met					EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000435761.1_Missense_Mutation_p.V81M|PSMD2_ENST00000439383.1_Missense_Mutation_p.V110M	p.V240M	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		6	1276	+	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		240					B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Missense_Mutation	SNP	ENST00000310118.4	37	c.718G>A	CCDS3258.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.932827	0.52866	.	.	ENSG00000175166	ENST00000310118;ENST00000417952;ENST00000538096;ENST00000435761;ENST00000439383	T;T;T;T	0.24723	1.84;1.95;1.84;1.84	5.46	5.46	0.80206	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.50394	0.1613	M	0.63208	1.945	0.80722	D	1	P;D	0.89917	0.776;1.0	B;D	0.79108	0.097;0.992	T	0.38457	-0.9660	10	0.49607	T	0.09	-26.8046	19.1186	0.93353	0.0:0.0:1.0:0.0	.	81;240	E9PCS3;Q13200	.;PSMD2_HUMAN	M	240;165;232;81;110	ENSP00000310129:V240M;ENSP00000414061:V165M;ENSP00000402618:V81M;ENSP00000416028:V110M	ENSP00000310129:V240M	V	+	1	0	PSMD2	185502865	1.000000	0.71417	0.980000	0.43619	0.897000	0.52465	9.428000	0.97476	2.845000	0.97973	0.603000	0.83216	GTG		0.428	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345843.1	NM_002808		25	65	0	0	0	1	0	25	65				
LARP1B	55132	broad.mit.edu	37	4	129043065	129043065	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr4:129043065G>A	ENST00000326639.6	+	11	1457	c.1246G>A	c.(1246-1248)Gat>Aat	p.D416N	LARP1B_ENST00000512292.1_Missense_Mutation_p.D416N|LARP1B_ENST00000441387.1_Missense_Mutation_p.D416N|LARP1B_ENST00000354456.3_De_novo_Start_OutOfFrame|LARP1B_ENST00000264584.5_Missense_Mutation_p.D369N|LARP1B_ENST00000427266.1_Missense_Mutation_p.D416N	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	416						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TTTTTTGTTTGATGAAGAGAT	0.333																																						ENST00000354456.3																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34								La ribonucleoprotein domain family, member 1B							47.0	47.0	47.0					4																	129043065		2203	4299	6502	SO:0001583	missense	55132						RNA binding	g.chr4:129043065G>A		CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.1246G>A	4.37:g.129043065G>A	ENSP00000321997:p.Asp416Asn					LARP1B_ENST00000326639.6_Missense_Mutation_p.D416N|LARP1B_ENST00000441387.1_Missense_Mutation_p.D416N|LARP1B_ENST00000264584.5_Missense_Mutation_p.D369N|LARP1B_ENST00000512292.1_Missense_Mutation_p.D416N|LARP1B_ENST00000427266.1_Missense_Mutation_p.D416N				Q659C4	LAR1B_HUMAN			0	1377	+								Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Translation_Start_Site	SNP	ENST00000326639.6	37		CCDS3738.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363084	0.82353	.	.	ENSG00000138709	ENST00000326639;ENST00000512292;ENST00000508819;ENST00000264584;ENST00000441387;ENST00000427266	T;T;T;T;T;T	0.64260	0.48;-0.08;-0.09;0.57;0.44;-0.09	4.71	3.86	0.44501	.	0.000000	0.85682	D	0.000000	T	0.80618	0.4657	M	0.87180	2.865	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.197	D;D;B	0.97110	1.0;1.0;0.063	D	0.83948	0.0315	10	0.72032	D	0.01	.	13.3324	0.60495	0.0771:0.0:0.9229:0.0	.	369;416;416	D6RJB0;Q659C4;G3XAJ5	.;LAR1B_HUMAN;.	N	416;416;369;369;416;416	ENSP00000321997:D416N;ENSP00000422850:D416N;ENSP00000427281:D369N;ENSP00000264584:D369N;ENSP00000396521:D416N;ENSP00000403586:D416N	ENSP00000264584:D369N	D	+	1	0	LARP1B	129262515	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	6.146000	0.71777	1.168000	0.42723	0.585000	0.79938	GAT		0.333	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078		24	34	0	0	0	1	0	24	34				
SYNE1	23345	broad.mit.edu	37	6	152456262	152456262	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr6:152456262G>A	ENST00000367255.5	-	142	26366	c.25765C>T	c.(25765-25767)Cag>Tag	p.Q8589*	SYNE1_ENST00000341594.5_Nonsense_Mutation_p.Q8201*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.Q8589*|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000539504.1_Nonsense_Mutation_p.Q744*|SYNE1_ENST00000354674.4_Nonsense_Mutation_p.Q767*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.Q8541*|SYNE1_ENST00000356820.4_Nonsense_Mutation_p.Q3113*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.Q8541*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8589					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGATGGTCCTGAAGTATCTCT	0.383										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(25765-25767)Cag>Tag		spectrin repeat containing, nuclear envelope 1							138.0	125.0	130.0					6																	152456262		2203	4300	6503	SO:0001587	stop_gained	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152456262G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.25765C>T	6.37:g.152456262G>A	ENSP00000356224:p.Gln8589*	HNSCC(10;0.0054)				SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Nonsense_Mutation_p.Q767*|SYNE1_ENST00000539504.1_Nonsense_Mutation_p.Q744*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.Q8201*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.Q8541*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.Q8589*|SYNE1_ENST00000356820.4_Nonsense_Mutation_p.Q3113*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.Q8541*	p.Q8589*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	142	26366	-		Ovarian(120;0.0955)	8589					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	c.25765C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	52	19.208049	0.99916	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	.	.	.	6.16	6.16	0.99307	.	0.000000	0.51477	D	0.000091	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.4549	0.99139	0.0:0.0:1.0:0.0	.	.	.	.	X	8589;744;1235;8541;8589;8541;8201;3113;774;769;1534;767	.	ENSP00000265368:Q8589X	Q	-	1	0	SYNE1	152497955	1.000000	0.71417	0.989000	0.46669	0.972000	0.66771	7.875000	0.87205	2.937000	0.99478	0.650000	0.86243	CAG		0.383	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		21	86	0	0	0	1	0	21	86				
SEMA3C	10512	broad.mit.edu	37	7	80546041	80546041	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:80546041C>T	ENST00000265361.3	-	2	618	c.57G>A	c.(55-57)gtG>gtA	p.V19V	SEMA3C_ENST00000544525.1_Silent_p.V37V|SEMA3C_ENST00000536800.1_5'UTR|SEMA3C_ENST00000487621.1_5'UTR|SEMA3C_ENST00000419255.2_Silent_p.V19V	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	19					axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AAGATCCTTTCACACAGATAG	0.343																																						ENST00000265361.3																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(55-57)gtG>gtA		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C							113.0	105.0	108.0					7																	80546041		2203	4300	6503	SO:0001819	synonymous_variant	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80546041C>T	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.57G>A	7.37:g.80546041C>T						SEMA3C_ENST00000487621.1_5'UTR|SEMA3C_ENST00000544525.1_Silent_p.V37V|SEMA3C_ENST00000536800.1_5'UTR|SEMA3C_ENST00000419255.2_Silent_p.V19V	p.V19V	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN			2	618	-			19					B4DRL8	Silent	SNP	ENST00000265361.3	37	c.57G>A	CCDS5596.1																																																																																				0.343	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		40	128	0	0	0	1	0	40	128				
TBC1D1	23216	broad.mit.edu	37	4	38117541	38117541	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr4:38117541G>A	ENST00000261439.4	+	16	3123	c.2768G>A	c.(2767-2769)cGg>cAg	p.R923Q	TBC1D1_ENST00000407365.1_3'UTR|TBC1D1_ENST00000508802.1_Missense_Mutation_p.R1017Q	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	923	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						ATGGGGCTGCGGAAACAGTAT	0.403																																						ENST00000261439.4																			0				NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(2767-2769)cGg>cAg		TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1							116.0	113.0	114.0					4																	38117541		2203	4300	6503	SO:0001583	missense	23216					nucleus	Rab GTPase activator activity	g.chr4:38117541G>A	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.2768G>A	4.37:g.38117541G>A	ENSP00000261439:p.Arg923Gln					TBC1D1_ENST00000508802.1_Missense_Mutation_p.R1017Q|TBC1D1_ENST00000407365.1_3'UTR	p.R923Q	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN			16	3123	+			923			Rab-GAP TBC.		B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	ENST00000261439.4	37	c.2768G>A	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	G	34	5.405125	0.96051	.	.	ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000454732	T;T	0.11604	2.76;2.76	5.29	5.29	0.74685	Rab-GAP/TBC domain (4);	0.000000	0.51477	D	0.000082	T	0.38453	0.1041	M	0.82132	2.575	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.988;1.0	T	0.23511	-1.0186	10	0.87932	D	0	-28.1239	19.3015	0.94145	0.0:0.0:1.0:0.0	.	1017;655;923	E9PGH8;Q6PJJ8;Q86TI0	.;.;TBCD1_HUMAN	Q	1017;923;187	ENSP00000423651:R1017Q;ENSP00000261439:R923Q	ENSP00000261439:R923Q	R	+	2	0	TBC1D1	37793936	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.317000	0.96327	2.644000	0.89710	0.561000	0.74099	CGG		0.403	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		43	45	0	0	0	1	0	43	45				
TEP1	7011	broad.mit.edu	37	14	20856088	20856088	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr14:20856088G>T	ENST00000262715.5	-	18	2700	c.2660C>A	c.(2659-2661)cCc>cAc	p.P887H	TEP1_ENST00000556935.1_Missense_Mutation_p.P779H	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	887					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGGAGCCAAGGGGCTTGGAGT	0.532																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(2659-2661)cCc>cAc		telomerase-associated protein 1							97.0	93.0	94.0					14																	20856088		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20856088G>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.2660C>A	14.37:g.20856088G>T	ENSP00000262715:p.Pro887His					TEP1_ENST00000556935.1_Missense_Mutation_p.P779H	p.P887H	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	18	2700	-	all_cancers(95;0.00123)	all_lung(585;0.235)	887					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.2660C>A	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.850749	0.51270	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.53206	0.64;0.63	5.47	2.55	0.30701	.	0.113677	0.64402	D	0.000011	T	0.58708	0.2141	M	0.71581	2.175	0.80722	D	1	D;D;D	0.65815	0.995;0.986;0.991	P;P;P	0.61132	0.884;0.826;0.769	T	0.56926	-0.7898	10	0.72032	D	0.01	-6.4067	6.8831	0.24185	0.157:0.144:0.699:0.0	.	779;237;887	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	H	887;887;779	ENSP00000262715:P887H;ENSP00000452574:P779H	ENSP00000262715:P887H	P	-	2	0	TEP1	19925928	1.000000	0.71417	0.710000	0.30468	0.431000	0.31685	1.620000	0.36976	0.237000	0.21200	0.591000	0.81541	CCC		0.532	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		32	71	1	0	4.92203e-23	1	5.17046e-23	32	71				
KIF2C	11004	broad.mit.edu	37	1	45218850	45218850	+	Silent	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:45218850G>A	ENST00000372224.4	+	6	599	c.486G>A	c.(484-486)ttG>ttA	p.L162L	KIF2C_ENST00000372217.1_Silent_p.L108L|KIF2C_ENST00000372218.4_Intron|KIF2C_ENST00000493027.1_Intron|KIF2C_ENST00000372222.3_Silent_p.L49L	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	162	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					AAATACCATTGAGGATGGTCA	0.547																																						ENST00000372217.1																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34						c.(322-324)ttG>ttA		kinesin family member 2C							167.0	143.0	151.0					1																	45218850		2203	4300	6503	SO:0001819	synonymous_variant	11004				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding	g.chr1:45218850G>A	U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"""Kinesins"""	6393	protein-coding gene	gene with protein product		604538	"""kinesin-like 6 (mitotic centromere-associated kinesin)"""	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.486G>A	1.37:g.45218850G>A						KIF2C_ENST00000493027.1_Intron|KIF2C_ENST00000372224.4_Silent_p.L162L|KIF2C_ENST00000372222.3_Silent_p.L49L|KIF2C_ENST00000372218.4_Intron	p.L108L			Q99661	KIF2C_HUMAN			5	675	+	Acute lymphoblastic leukemia(166;0.155)		162			Globular (Potential).		B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Silent	SNP	ENST00000372224.4	37	c.324G>A	CCDS512.1																																																																																				0.547	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	NM_006845		51	98	0	0	0	1	0	51	98				
DNAH8	1769	broad.mit.edu	37	6	38891905	38891905	+	Silent	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr6:38891905G>A	ENST00000359357.3	+	71	10532	c.10278G>A	c.(10276-10278)ctG>ctA	p.L3426L	DNAH8_ENST00000449981.2_Silent_p.L3643L|RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000441566.1_Silent_p.L3390L|RP1-207H1.3_ENST00000416948.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3426					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAGAAAACCTGAATCTTATTT	0.348																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(10276-10278)ctG>ctA		dynein, axonemal, heavy chain 8							104.0	116.0	112.0					6																	38891905		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38891905G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.10278G>A	6.37:g.38891905G>A						DNAH8_ENST00000441566.1_Silent_p.L3390L|RP1-207H1.3_ENST00000418399.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Silent_p.L3643L	p.L3426L							71	10532	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.10278G>A																																																																																					0.348	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		30	90	0	0	0	1	0	30	90				
GLIS3	169792	broad.mit.edu	37	9	4118651	4118651	+	Missense_Mutation	SNP	G	G	A	rs376905545		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:4118651G>A	ENST00000324333.10	-	3	555	c.362C>T	c.(361-363)aCg>aTg	p.T121M	GLIS3_ENST00000381971.3_Missense_Mutation_p.T276M	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	121	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GCTACTTTCCGTGCCAAAAAG	0.557																																						ENST00000324333.10																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(361-363)aCg>aTg		GLIS family zinc finger 3		A	MET/THR,MET/THR	1,4405	826.1+/-416.6	0,1,2202	129.0	119.0	123.0		362,827	5.6	1.0	9		123	0,8600		0,0,4300	no	missense,missense	GLIS3	NM_152629.3,NM_001042413.1	81,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	121/776,276/931	4118651	1,13005	2203	4300	6503	SO:0001583	missense	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:4118651G>A	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.362C>T	9.37:g.4118651G>A	ENSP00000325494:p.Thr121Met					GLIS3_ENST00000381971.3_Missense_Mutation_p.T276M	p.T121M	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	3	555	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	121			Ser-rich.		B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	c.362C>T	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	A	9.096	1.002998	0.19121	2.27E-4	0.0	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.10192	2.91;2.9	5.59	5.59	0.84812	.	0.192596	0.35646	N	0.003062	T	0.02494	0.0076	N	0.00128	-2.045	0.21020	N	0.999804	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38478	-0.9659	10	0.29301	T	0.29	.	11.6278	0.51156	0.9305:0.0:0.0695:0.0	.	276;121	Q8NEA6-2;Q8NEA6	.;GLIS3_HUMAN	M	121;276	ENSP00000325494:T121M;ENSP00000371398:T276M	ENSP00000325494:T121M	T	-	2	0	GLIS3	4108651	0.994000	0.37717	1.000000	0.80357	0.933000	0.57130	2.362000	0.44169	0.958000	0.37956	-0.254000	0.11334	ACG		0.557	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		43	108	0	0	0	1	0	43	108				
FGFR3	2261	broad.mit.edu	37	4	1808924	1808924	+	Missense_Mutation	SNP	G	G	A	rs548817695	byFrequency	TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr4:1808924G>A	ENST00000260795.2	+	17	2458	c.2356G>A	c.(2356-2358)Gac>Aac	p.D786N	FGFR3_ENST00000412135.2_Missense_Mutation_p.D674N|FGFR3_ENST00000481110.2_Missense_Mutation_p.R763Q|FGFR3_ENST00000440486.2_Missense_Mutation_p.D786N|FGFR3_ENST00000352904.1_Missense_Mutation_p.D674N|FGFR3_ENST00000340107.4_Missense_Mutation_p.D788N			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	786					alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	CTCAGGGGACGACTCCGTGTT	0.701		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				g|||	2	0.000399361	0.0	0.0029	5008	,	,		14496	0.0		0.0	False		,,,				2504	0.0					ENST00000340107.4		1		Dom	yes		4	4p16.3	2261	"""Mis, T"""	fibroblast growth factor receptor 3	yes	"""Hypochondroplasia, Thanatophoric dysplasia"""	"""L, E"""	"""IGH@, ETV6"""		"""bladder, MM, T-cell lymphoma"""		0				NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091						c.(2362-2364)Gac>Aac		fibroblast growth factor receptor 3	Palifermin(DB00039)						25.0	27.0	26.0					4																	1808924		2196	4294	6490	SO:0001583	missense	2261	Saethre-Chotzen syndrome;Muenke syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1808924G>A	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.2356G>A	4.37:g.1808924G>A	ENSP00000260795:p.Asp786Asn					FGFR3_ENST00000352904.1_Missense_Mutation_p.D674N|FGFR3_ENST00000440486.2_Missense_Mutation_p.D786N|FGFR3_ENST00000260795.2_Missense_Mutation_p.D786N|FGFR3_ENST00000412135.2_Missense_Mutation_p.D674N|FGFR3_ENST00000481110.2_Missense_Mutation_p.R763Q	p.D788N	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		18	2618	+		Breast(71;0.212)|all_epithelial(65;0.241)	786					D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.2362G>A	CCDS3353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	19.58|19.58	3.854309|3.854309	0.71719|0.71719	.|.	.|.	ENSG00000068078|ENSG00000068078	ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904;ENST00000312875|ENST00000481110	D;D;D;D;D|D	0.85556|0.82167	-2.0;-2.0;-2.0;-2.0;-2.0|-1.58	4.6|4.6	4.6|4.6	0.57074|0.57074	.|.	.|0.616043	.|0.17324	.|N	.|0.178395	D|D	0.90259|0.90259	0.6954|0.6954	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	D;D;D|D	0.89917|0.71674	1.0;1.0;0.999|0.998	D;D;D|D	0.91635|0.72982	0.999;0.996;0.97|0.979	D|D	0.91266|0.91266	0.5040|0.5040	9|10	0.87932|0.87932	D|D	0|0	.|.	17.7592|17.7592	0.88460|0.88460	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	788;674;786|763	P22607-2;P22607-3;P22607|F8W9L4	.;.;FGFR3_HUMAN|.	N|Q	788;786;674;786;674;28|763	ENSP00000339824:D788N;ENSP00000414914:D786N;ENSP00000412903:D674N;ENSP00000260795:D786N;ENSP00000231803:D674N|ENSP00000420533:R763Q	ENSP00000260795:D786N|ENSP00000420533:R763Q	D|R	+|+	1|2	0|0	FGFR3|FGFR3	1778722|1778722	1.000000|1.000000	0.71417|0.71417	0.922000|0.922000	0.36590|0.36590	0.229000|0.229000	0.25112|0.25112	9.456000|9.456000	0.97628|0.97628	2.254000|2.254000	0.74563|0.74563	0.561000|0.561000	0.74099|0.74099	GAC|CGA		0.701	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		10	7	0	0	0	1	0	10	7				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		899	Substitution - Missense(899)	p.E545K(881)|p.E545Q(18)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1633-1635)Gag>Aag		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			23	85	0	0	0	1	0	23	85				
MT-ATP6	4508	broad.mit.edu	37	M	9133	9133	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrM:9133G>A	ENST00000361899.2	+	1	607	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	MT-ND4L_ENST00000361335.1_5'Flank|MT-TK_ENST00000387421.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-ND4_ENST00000361381.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-ND3_ENST00000361227.2_5'Flank			P00846	ATP6_HUMAN	mitochondrially encoded ATP synthase 6	203					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						TGACTATCCTAGAAATCGCTG	0.428																																						ENST00000361899.2																			0				breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						c.(607-609)Gaa>Aaa		mitochondrially encoded ATP synthase 6																																				SO:0001583	missense	4508							g.chrM:9133G>A			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198899	ENSG00000198899		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	7414	protein-coding gene	gene with protein product		516060	"""ATP synthase 6"", ""spicular retinitis pigmentosa with dementia, seizures, ataxia, proximal muscle weakness and sensory deficit"""	MTATP6, RP		7219534	Standard			Approved	ATP6, ATPase-6, Su6m		P00846		ENST00000361899.2:c.607G>A	M.37:g.9133G>A	ENSP00000354632:p.Glu203Lys						p.E203K							1	607	+								Q34772|Q5S8W5|Q5S9E7|Q5S9I6|Q5SA31|Q6RPB7|Q6VHC0|Q6VHE0|Q6WQF4|Q7YCC1|Q7YCF8|Q7YCG1|Q85KU8|Q85KX1|Q85L05|Q8HNQ4|Q8HNQ8|Q8WCX6|Q9B2U5|Q9B2Z2	Missense_Mutation	SNP	ENST00000361899.2	37	c.607G>A																																																																																					0.428	MT-ATP6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024031		4	23	0	0	0	1	0	4	23				
TLR9	54106	broad.mit.edu	37	3	52256442	52256442	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:52256442C>G	ENST00000360658.2	-	2	2523	c.1890G>C	c.(1888-1890)ttG>ttC	p.L630F	TLR9_ENST00000494383.1_Missense_Mutation_p.D784H|TLR9_ENST00000597542.1_Missense_Mutation_p.L654F	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	630					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|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 synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	CCAGCCAGATCAAACCGCTCA	0.612																																						ENST00000597542.1																			0				endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30						c.(1960-1962)ttG>ttC		toll-like receptor 9	Chloroquine(DB00608)						57.0	54.0	55.0					3																	52256442		2203	4300	6503	SO:0001583	missense	54106				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|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 toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52256442C>G	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"""CD molecules"""	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.1890G>C	3.37:g.52256442C>G	ENSP00000353874:p.Leu630Phe					TLR9_ENST00000494383.1_Missense_Mutation_p.D784H|TLR9_ENST00000360658.2_Missense_Mutation_p.L630F	p.L654F			Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	9	2919	-			630					B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	c.1962G>C	CCDS2848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.253|8.253	0.809425|0.809425	0.16537|0.16537	.|.	.|.	ENSG00000173366|ENSG00000239732	ENST00000494383|ENST00000360658	.|D	.|0.88664	.|-2.41	5.16|5.16	0.142|0.142	0.14816|0.14816	.|.	.|0.000000	.|0.31358	.|N	.|0.007788	D|D	0.92948|0.92948	0.7756|0.7756	M|M	0.87328|0.87328	2.875|2.875	0.26190|0.26190	N|N	0.979594|0.979594	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.988;0.999	D|D	0.85401|0.85401	0.1131|0.1131	5|10	.|0.87932	.|D	.|0	.|.	5.0532|5.0532	0.14520|0.14520	0.0:0.4387:0.1449:0.4164|0.0:0.4387:0.1449:0.4164	.|.	.|727;630	.|B4E0A1;Q9NR96	.|.;TLR9_HUMAN	H|F	784|630	.|ENSP00000353874:L630F	.|ENSP00000353874:L630F	D|L	-|-	1|3	0|2	RP11-330H6.5|TLR9	52231482|52231482	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	-0.471000|-0.471000	0.06631|0.06631	-0.298000|-0.298000	0.08921|0.08921	-0.258000|-0.258000	0.10820|0.10820	GAT|TTG		0.612	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1			17	73	0	0	0	1	0	17	73				
TNKS	8658	broad.mit.edu	37	8	9437728	9437728	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr8:9437728C>T	ENST00000310430.6	+	2	759	c.733C>T	c.(733-735)Cgt>Tgt	p.R245C	TNKS_ENST00000518281.1_Missense_Mutation_p.R8C|TNKS_ENST00000520408.1_Missense_Mutation_p.R245C	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	245					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TGTCCACGCTCGTGATGATGG	0.418																																						ENST00000310430.6																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(733-735)Cgt>Tgt		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase							316.0	265.0	282.0					8																	9437728		2203	4300	6503	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9437728C>T	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.733C>T	8.37:g.9437728C>T	ENSP00000311579:p.Arg245Cys					TNKS_ENST00000518281.1_Missense_Mutation_p.R8C|TNKS_ENST00000520408.1_Missense_Mutation_p.R245C	p.R245C	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	2	759	+			245					O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.733C>T	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727647	0.69074	.	.	ENSG00000173273	ENST00000520408;ENST00000310430;ENST00000518281	T;T;T	0.67698	-0.28;-0.28;-0.15	5.98	5.98	0.97165	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.80460	0.4627	M	0.70275	2.135	0.80722	D	1	D;B	0.89917	1.0;0.224	D;B	0.80764	0.994;0.117	T	0.79482	-0.1785	10	0.46703	T	0.11	.	15.2005	0.73132	0.1408:0.8592:0.0:0.0	.	245;245	E7EWY6;O95271	.;TNKS1_HUMAN	C	245;245;8	ENSP00000428299:R245C;ENSP00000311579:R245C;ENSP00000429890:R8C	ENSP00000311579:R245C	R	+	1	0	TNKS	9475138	0.998000	0.40836	0.998000	0.56505	0.931000	0.56810	2.433000	0.44793	2.838000	0.97847	0.591000	0.81541	CGT		0.418	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		69	193	0	0	0	1	0	69	193				
SNX18	112574	broad.mit.edu	37	5	53815217	53815217	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:53815217G>C	ENST00000326277.3	+	1	1625	c.1435G>C	c.(1435-1437)Gag>Cag	p.E479Q	SNX18_ENST00000343017.6_Missense_Mutation_p.E479Q|SNX18_ENST00000381410.4_Missense_Mutation_p.E479Q	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	479	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				CCAGGCCTTTGAGCTGGACCA	0.627																																						ENST00000343017.6																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(1435-1437)Gag>Cag		sorting nexin 18							42.0	41.0	41.0					5																	53815217		2203	4300	6503	SO:0001583	missense	112574				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding	g.chr5:53815217G>C	AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"""Sorting nexins"""	19245	protein-coding gene	gene with protein product			"""sorting nexin associated golgi protein 1"""	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.1435G>C	5.37:g.53815217G>C	ENSP00000317332:p.Glu479Gln					SNX18_ENST00000381410.4_Missense_Mutation_p.E479Q|SNX18_ENST00000326277.3_Missense_Mutation_p.E479Q	p.E479Q	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN			1	1629	+		Lung NSC(810;3.46e-05)|Breast(144;0.102)	479			BAR.		B4E2B3|H7BXX3|Q05BB3|Q0VG02	Missense_Mutation	SNP	ENST00000326277.3	37	c.1435G>C	CCDS3962.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.310726	0.40895	.	.	ENSG00000178996	ENST00000343017;ENST00000381410;ENST00000326277	T;T;T	0.15487	2.62;2.42;2.8	5.24	4.37	0.52481	Sorting nexin protein, WASP-binding domain (1);	0.056602	0.64402	D	0.000002	T	0.34890	0.0913	L	0.56280	1.765	0.58432	D	0.999999	D;B	0.89917	1.0;0.057	D;B	0.87578	0.998;0.113	T	0.05835	-1.0861	10	0.19590	T	0.45	-30.8124	15.3829	0.74673	0.0:0.0:0.8598:0.1402	.	479;479	Q96RF0;Q96RF0-2	SNX18_HUMAN;.	Q	479	ENSP00000342276:E479Q;ENSP00000370817:E479Q;ENSP00000317332:E479Q	ENSP00000317332:E479Q	E	+	1	0	SNX18	53850974	1.000000	0.71417	0.987000	0.45799	0.998000	0.95712	6.564000	0.73969	1.424000	0.47217	0.561000	0.74099	GAG		0.627	SNX18-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214072.2			20	33	0	0	0	1	0	20	33				
PAX5	5079	broad.mit.edu	37	9	37015106	37015106	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:37015106C>T	ENST00000358127.4	-	3	372	c.298G>A	c.(298-300)Gct>Act	p.A100T	PAX5_ENST00000377853.2_Missense_Mutation_p.A100T|PAX5_ENST00000523241.1_Missense_Mutation_p.A100T|PAX5_ENST00000520281.1_Missense_Mutation_p.A100T|PAX5_ENST00000520154.1_Missense_Mutation_p.A100T|PAX5_ENST00000523145.1_5'UTR|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000522003.1_5'UTR|PAX5_ENST00000414447.1_Missense_Mutation_p.A100T|PAX5_ENST00000377847.2_Missense_Mutation_p.A100T|PAX5_ENST00000377852.2_Missense_Mutation_p.A100T	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	100	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.?(42)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		TTATATTCAGCGATTTTTTCC	0.522			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""																																	ENST00000358127.4				Dom	yes		9	9p13	5079	"""T, Mis, D, F, S"""	paired box gene 5 (B-cell lineage specific activator protein)			L	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""		"""NHL, ALL, B-ALL"""	PAX5/JAK2(18)	42	Unknown(42)	p.?(42)	haematopoietic_and_lymphoid_tissue(42)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171						c.(298-300)Gct>Act		paired box 5							258.0	251.0	253.0					9																	37015106		2203	4300	6503	SO:0001583	missense	5079				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr9:37015106C>T		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"""Paired boxes"", ""Homeoboxes / PRD class"""	8619	protein-coding gene	gene with protein product	"""B-cell lineage specific activator"""	167414	"""paired box gene 5 (B-cell lineage specific activator protein)"", ""paired box gene 5 (B-cell lineage specific activator)"""			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.298G>A	9.37:g.37015106C>T	ENSP00000350844:p.Ala100Thr					PAX5_ENST00000523241.1_Missense_Mutation_p.A100T|PAX5_ENST00000520154.1_Missense_Mutation_p.A100T|PAX5_ENST00000377847.2_Missense_Mutation_p.A100T|PAX5_ENST00000377852.2_Missense_Mutation_p.A100T|PAX5_ENST00000523145.1_5'UTR|PAX5_ENST00000377853.2_Missense_Mutation_p.A100T|PAX5_ENST00000522003.1_5'UTR|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000520281.1_Missense_Mutation_p.A100T|PAX5_ENST00000414447.1_Missense_Mutation_p.A100T	p.A100T	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN		GBM - Glioblastoma multiforme(29;0.0108)	3	372	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	100			Paired.		A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Missense_Mutation	SNP	ENST00000358127.4	37	c.298G>A	CCDS6607.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952103	0.92660	.	.	ENSG00000196092	ENST00000358127;ENST00000377853;ENST00000377852;ENST00000523241;ENST00000520154;ENST00000520281;ENST00000414447;ENST00000377847	D;D;D;D;D;D;D;D	0.99319	-5.74;-5.74;-5.74;-5.74;-5.74;-5.74;-5.74;-5.74	5.68	5.68	0.88126	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.057508	0.64402	D	0.000002	D	0.98823	0.9603	L	0.59967	1.855	0.80722	D	1	D;D;D;P;B;D;D;D	0.64830	0.994;0.993;0.994;0.46;0.163;0.994;0.994;0.994	P;P;P;B;B;P;P;P	0.50490	0.53;0.642;0.626;0.107;0.107;0.626;0.53;0.626	D	0.99879	1.1109	10	0.72032	D	0.01	.	19.8396	0.96677	0.0:1.0:0.0:0.0	.	100;100;100;100;100;100;100;100	C0KTF8;C0KTF7;C0KTF6;E7ERW5;E7EQT0;Q6S730;Q6S731;Q02548	.;.;.;.;.;.;.;PAX5_HUMAN	T	100	ENSP00000350844:A100T;ENSP00000367084:A100T;ENSP00000367083:A100T;ENSP00000429637:A100T;ENSP00000429291:A100T;ENSP00000430773:A100T;ENSP00000412188:A100T;ENSP00000367078:A100T	ENSP00000350844:A100T	A	-	1	0	PAX5	37005106	1.000000	0.71417	0.982000	0.44146	0.934000	0.57294	4.887000	0.63156	2.690000	0.91761	0.650000	0.86243	GCT		0.522	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1			138	315	0	0	0	1	0	138	315				
IGBP1	3476	broad.mit.edu	37	X	69385733	69385733	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:69385733G>A	ENST00000342206.6	+	6	1421	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	IGBP1-AS1_ENST00000366397.3_RNA|IGBP1_ENST00000356413.4_Missense_Mutation_p.E308K			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	308					B cell activation (GO:0042113)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dephosphorylation (GO:0035306)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microtubule-based movement (GO:0060632)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	protein phosphatase type 2A regulator activity (GO:0008601)			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						AGAAAAGGAGGAAGAGGATGA	0.468																																					NSCLC(167;1189 1558 6576 8216 30387 37980 41450)	ENST00000342206.6																			0				kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						c.(922-924)Gaa>Aaa		immunoglobulin (CD79A) binding protein 1							88.0	68.0	74.0					X																	69385733		2203	4300	6503	SO:0001583	missense	3476				B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity	g.chrX:69385733G>A	Y08915	CCDS14396.1	Xq13.1-q13.3	2008-02-05			ENSG00000089289	ENSG00000089289			5461	protein-coding gene	gene with protein product	"""alpha 4"""	300139		IBP1		9441740	Standard	NM_001551		Approved		uc004dxw.3	P78318	OTTHUMG00000021767	ENST00000342206.6:c.922G>A	X.37:g.69385733G>A	ENSP00000363661:p.Glu308Lys					IGBP1_ENST00000356413.4_Missense_Mutation_p.E308K	p.E308K			P78318	IGBP1_HUMAN			6	1421	+			308					Q8TAB2	Missense_Mutation	SNP	ENST00000342206.6	37	c.922G>A	CCDS14396.1	.	.	.	.	.	.	.	.	.	.	.	14.21	2.466852	0.43839	.	.	ENSG00000089289	ENST00000342206;ENST00000356413	T;T	0.53423	0.62;0.62	5.14	4.27	0.50696	.	0.149138	0.64402	N	0.000016	T	0.52933	0.1765	M	0.80982	2.52	0.54753	D	0.999987	B	0.21905	0.062	B	0.35413	0.202	T	0.53222	-0.8469	10	0.45353	T	0.12	.	8.3401	0.32239	0.1075:0.0:0.8925:0.0	.	308	P78318	IGBP1_HUMAN	K	308	ENSP00000363661:E308K;ENSP00000348784:E308K	ENSP00000363661:E308K	E	+	1	0	IGBP1	69302458	1.000000	0.71417	0.099000	0.21106	0.508000	0.34012	5.717000	0.68446	1.157000	0.42530	0.600000	0.82982	GAA		0.468	IGBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057052.1			17	41	0	0	0	1	0	17	41				
DOCK8	81704	broad.mit.edu	37	9	390558	390558	+	Missense_Mutation	SNP	G	G	C	rs540409876		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:390558G>C	ENST00000453981.1	+	24	3074	c.2962G>C	c.(2962-2964)Gag>Cag	p.E988Q	DOCK8_ENST00000382329.1_Missense_Mutation_p.E455Q|DOCK8_ENST00000469391.1_Missense_Mutation_p.E888Q|DOCK8_ENST00000432829.2_Missense_Mutation_p.E920Q|DOCK8_ENST00000382331.1_Missense_Mutation_p.E290Q			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	988					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GTTCTTCTTTGAGCTTCTGGT	0.463													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20691	0.0		0.0	False		,,,				2504	0.0					ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(2758-2760)Gag>Cag		dedicator of cytokinesis 8							280.0	233.0	249.0					9																	390558		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:390558G>C	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.2962G>C	9.37:g.390558G>C	ENSP00000408464:p.Glu988Gln					DOCK8_ENST00000469391.1_Missense_Mutation_p.E888Q|DOCK8_ENST00000382329.1_Missense_Mutation_p.E455Q|DOCK8_ENST00000382331.1_Missense_Mutation_p.E290Q|DOCK8_ENST00000453981.1_Missense_Mutation_p.E988Q	p.E920Q	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	24	3074	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	988					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.2758G>C	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	G	18.43	3.623263	0.66901	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382331;ENST00000382329	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	5.78	5.78	0.91487	.	0.158856	0.56097	D	0.000040	T	0.43322	0.1242	L	0.41079	1.255	0.80722	D	1	P;P;B;B	0.50369	0.934;0.887;0.139;0.139	P;P;B;B	0.55011	0.766;0.562;0.181;0.181	T	0.03818	-1.1001	10	0.36615	T	0.2	.	20.0124	0.97464	0.0:0.0:1.0:0.0	.	290;888;455;988	A2A370;E9PH09;A2A369;Q8NF50	.;.;.;DOCK8_HUMAN	Q	988;956;920;888;290;455	ENSP00000408464:E988Q;ENSP00000394888:E920Q;ENSP00000419438:E888Q;ENSP00000371768:E290Q;ENSP00000371766:E455Q	ENSP00000287364:E956Q	E	+	1	0	DOCK8	380558	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.642000	0.83385	2.749000	0.94314	0.655000	0.94253	GAG		0.463	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		24	83	0	0	0	1	0	24	83				
TLR9	54106	broad.mit.edu	37	3	52257323	52257323	+	Missense_Mutation	SNP	G	G	A	rs202131815		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:52257323G>A	ENST00000360658.2	-	2	1642	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	TLR9_ENST00000494383.1_Missense_Mutation_p.A490V|TLR9_ENST00000597542.1_Missense_Mutation_p.R361C	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	337					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|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 synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	TTAAGCTTGCGCAGCTGTGTT	0.557																																						ENST00000597542.1																			0				endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30						c.(1081-1083)Cgc>Tgc		toll-like receptor 9	Chloroquine(DB00608)						117.0	121.0	119.0					3																	52257323		2203	4300	6503	SO:0001583	missense	54106				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|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 toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52257323G>A	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"""CD molecules"""	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.1009C>T	3.37:g.52257323G>A	ENSP00000353874:p.Arg337Cys					TLR9_ENST00000494383.1_Missense_Mutation_p.A490V|TLR9_ENST00000360658.2_Missense_Mutation_p.R337C	p.R361C			Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	9	2038	-			337					B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	c.1081C>T	CCDS2848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.47|16.47	3.132359|3.132359	0.56828|0.56828	.|.	.|.	ENSG00000173366|ENSG00000239732	ENST00000494383|ENST00000360658	.|T	.|0.61274	.|0.12	5.38|5.38	3.43|3.43	0.39272|0.39272	.|.	.|0.000000	.|0.39834	.|N	.|0.001246	T|T	0.74951|0.74951	0.3784|0.3784	M|M	0.89840|0.89840	3.065|3.065	0.29084|0.29084	N|N	0.882494|0.882494	.|D;D	.|0.89917	.|1.0;1.0	.|P;D	.|0.71414	.|0.892;0.973	T|T	0.69154|0.69154	-0.5220|-0.5220	5|10	.|0.52906	.|T	.|0.07	.|.	7.1571|7.1571	0.25643|0.25643	0.0:0.1485:0.5542:0.2973|0.0:0.1485:0.5542:0.2973	.|.	.|434;337	.|B4E0A1;Q9NR96	.|.;TLR9_HUMAN	V|C	490|337	.|ENSP00000353874:R337C	.|ENSP00000353874:R337C	A|R	-|-	2|1	0|0	RP11-330H6.5|TLR9	52232363|52232363	0.000000|0.000000	0.05858|0.05858	0.973000|0.973000	0.42090|0.42090	0.908000|0.908000	0.53690|0.53690	0.360000|0.360000	0.20250|0.20250	2.521000|2.521000	0.84997|0.84997	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.557	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1			43	97	0	0	0	1	0	43	97				
RNF13	11342	broad.mit.edu	37	3	149678787	149678787	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:149678787G>C	ENST00000344229.3	+	11	1744	c.1042G>C	c.(1042-1044)Gat>Cat	p.D348H	RNF13_ENST00000392894.3_Missense_Mutation_p.D348H|RNF13_ENST00000361785.6_Missense_Mutation_p.D229H	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	348					protein autoubiquitination (GO:0051865)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CGACAATGAAGATACTGACAG	0.423																																						ENST00000344229.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11						c.(1042-1044)Gat>Cat		ring finger protein 13							99.0	90.0	93.0					3																	149678787		2203	4300	6503	SO:0001583	missense	11342				protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:149678787G>C	AF037204	CCDS3146.1	3q25.1	2013-01-09			ENSG00000082996	ENSG00000082996		"""RING-type (C3HC4) zinc fingers"""	10057	protein-coding gene	gene with protein product		609247					Standard	NM_183381		Approved	RZF	uc003exp.4	O43567	OTTHUMG00000150338	ENST00000344229.3:c.1042G>C	3.37:g.149678787G>C	ENSP00000341361:p.Asp348His					RNF13_ENST00000392894.3_Missense_Mutation_p.D348H|RNF13_ENST00000361785.6_Missense_Mutation_p.D229H	p.D348H	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		11	1744	+		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	348					A6NC87|B3KR12|Q05D66|Q6IBJ9	Missense_Mutation	SNP	ENST00000344229.3	37	c.1042G>C	CCDS3146.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.53|14.53	2.561849|2.561849	0.45590|0.45590	.|.	.|.	ENSG00000082996|ENSG00000082996	ENST00000392894;ENST00000344229;ENST00000491086;ENST00000361785;ENST00000482083|ENST00000468289	T;T;T;T;T|.	0.14640|.	3.67;3.67;2.49;2.65;2.54|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.477678|.	0.25817|.	N|.	0.028108|.	T|T	0.32526|0.32526	0.0832|0.0832	N|N	0.08118|0.08118	0|0	0.34356|0.34356	D|D	0.690445|0.690445	B;B|.	0.28512|.	0.214;0.07|.	B;B|.	0.34873|.	0.191;0.092|.	T|T	0.44697|0.44697	-0.9311|-0.9311	10|5	0.40728|.	T|.	0.16|.	-6.6946|-6.6946	13.0248|13.0248	0.58808|0.58808	0.0834:0.0:0.9166:0.0|0.0834:0.0:0.9166:0.0	.|.	229;348|.	B3KR12;O43567|.	.;RNF13_HUMAN|.	H|T	348;348;229;229;229|149	ENSP00000376628:D348H;ENSP00000341361:D348H;ENSP00000420667:D229H;ENSP00000355268:D229H;ENSP00000418863:D229H|.	ENSP00000341361:D348H|.	D|R	+|+	1|2	0|0	RNF13|RNF13	151161477|151161477	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.970000|0.970000	0.65996|0.65996	5.411000|5.411000	0.66386|0.66386	2.558000|2.558000	0.86282|0.86282	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.423	RNF13-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356876.1	NM_183384		21	104	0	0	0	1	0	21	104				
OR52I1	390037	broad.mit.edu	37	11	4615302	4615302	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr11:4615302A>T	ENST00000530443.2	+	1	34	c.34A>T	c.(34-36)Acc>Tcc	p.T12S	OR52I1_ENST00000450052.2_Missense_Mutation_p.T36S	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACAATGGAAACCCCTGCCTC	0.473																																						ENST00000450052.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15						c.(106-108)Acc>Tcc		olfactory receptor, family 52, subfamily I, member 1							183.0	178.0	180.0					11																	4615302		2201	4298	6499	SO:0001583	missense	390037				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4615302A>T	BK004371	CCDS59223.1	11p15.4	2012-08-09				ENSG00000232268		"""GPCR / Class A : Olfactory receptors"""	15220	protein-coding gene	gene with protein product							Standard	NM_001005169		Approved		uc010qyi.2	Q8NGK6		ENST00000530443.2:c.34A>T	11.37:g.4615302A>T	ENSP00000436453:p.Thr12Ser					OR52I1_ENST00000530443.2_Missense_Mutation_p.T12S	p.T36S			Q8NGK6	O52I1_HUMAN		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	106	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	12					Q6IF91	Missense_Mutation	SNP	ENST00000530443.2	37	c.106A>T	CCDS59223.1	.	.	.	.	.	.	.	.	.	.	A	2.591	-0.295168	0.05532	.	.	ENSG00000232268	ENST00000450052;ENST00000530443	T;T	0.51817	0.69;0.69	4.82	-3.96	0.04106	.	1.006940	0.08001	N	0.988779	T	0.21631	0.0521	N	0.10707	0.03	0.22851	N	0.998652	B	0.10296	0.003	B	0.08055	0.003	T	0.13282	-1.0515	9	0.39692	T	0.17	0.0052	3.7764	0.08661	0.2122:0.4772:0.0769:0.2337	.	12	Q8NGK6	O52I1_HUMAN	S	36;12	ENSP00000409094:T36S;ENSP00000436453:T12S	ENSP00000409094:T36S	T	+	1	0	OR52I1	4571878	0.000000	0.05858	0.000000	0.03702	0.151000	0.21798	-0.089000	0.11180	-0.818000	0.04329	0.454000	0.30748	ACC		0.473	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2	NM_001005169		14	253	0	0	0	1	0	14	253				
LURAP1L	286343	broad.mit.edu	37	9	12821667	12821667	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:12821667T>G	ENST00000319264.3	+	2	1290	c.595T>G	c.(595-597)Ttg>Gtg	p.L199V		NM_203403.1	NP_981948.1	Q8IV03	LUR1L_HUMAN	leucine rich adaptor protein 1-like	202																	CCCTTCAGACTTGGACCAATT	0.512																																						ENST00000319264.3																			0											c.(595-597)Ttg>Gtg		leucine rich adaptor protein 1-like							190.0	167.0	175.0					9																	12821667		2203	4300	6503	SO:0001583	missense	286343							g.chr9:12821667T>G	AK095824	CCDS6473.1	9p22.3	2012-02-01	2012-02-01	2012-02-01	ENSG00000153714	ENSG00000153714			31452	protein-coding gene	gene with protein product	"""similar to DNA segment, Chr 4, Brigham & Womens Genetics 0951 expressed"""		"""chromosome 9 open reading frame 150"""	C9orf150		12766061	Standard	NM_203403		Approved	MGC46502, FLJ38505, bA3L8.2	uc003zkw.3	Q8IV03	OTTHUMG00000019557	ENST00000319264.3:c.595T>G	9.37:g.12821667T>G	ENSP00000321026:p.Leu199Val						p.L199V	NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN			2	1290	+			202					Q5VZX7|Q8N923|Q8NCG2	Missense_Mutation	SNP	ENST00000319264.3	37	c.595T>G	CCDS6473.1	.	.	.	.	.	.	.	.	.	.	T	12.85	2.060401	0.36373	.	.	ENSG00000153714	ENST00000319264	T	0.56444	0.46	5.59	3.23	0.37069	.	0.517985	0.18377	N	0.143071	T	0.30572	0.0769	N	0.19112	0.55	0.35502	D	0.799912	B	0.33940	0.433	B	0.31686	0.134	T	0.31943	-0.9925	10	0.54805	T	0.06	.	2.1326	0.03754	0.1642:0.1287:0.1099:0.5971	.	202	Q8IV03	CI150_HUMAN	V	199	ENSP00000321026:L199V	ENSP00000321026:L199V	L	+	1	2	C9orf150	12811667	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.700000	0.25601	0.391000	0.25143	0.460000	0.39030	TTG		0.512	LURAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051730.1	NM_203403		55	142	0	0	0	1	0	55	142				
ZNF211	10520	broad.mit.edu	37	19	58153100	58153100	+	Missense_Mutation	SNP	C	C	T	rs373659490		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:58153100C>T	ENST00000347302.3	+	3	1425	c.1246C>T	c.(1246-1248)Cgg>Tgg	p.R416W	ZNF211_ENST00000299871.5_Missense_Mutation_p.R481W|ZNF211_ENST00000544273.1_Missense_Mutation_p.R428W|ZNF211_ENST00000541801.1_Missense_Mutation_p.R407W|ZNF211_ENST00000254182.7_Missense_Mutation_p.R407W|ZNF211_ENST00000420680.1_Missense_Mutation_p.R420W|ZNF211_ENST00000240731.4_Missense_Mutation_p.R429W|ZNF211_ENST00000391703.3_Missense_Mutation_p.R355W	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	416					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CATTCACCACCGGAGACTTCA	0.478																																						ENST00000544273.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1282-1284)Cgg>Tgg		zinc finger protein 211		C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	66.0	71.0	69.0		1285,1246	-2.3	0.0	19		69	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZNF211	NM_006385.3,NM_198855.2	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	429/578,416/565	58153100	1,13005	2203	4300	6503	SO:0001583	missense	10520					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58153100C>T	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.1246C>T	19.37:g.58153100C>T	ENSP00000339562:p.Arg416Trp					ZNF211_ENST00000391703.3_Missense_Mutation_p.R355W|ZNF211_ENST00000347302.3_Missense_Mutation_p.R416W|ZNF211_ENST00000299871.5_Missense_Mutation_p.R481W|ZNF211_ENST00000420680.1_Missense_Mutation_p.R420W|ZNF211_ENST00000254182.7_Missense_Mutation_p.R407W|ZNF211_ENST00000240731.4_Missense_Mutation_p.R429W|ZNF211_ENST00000541801.1_Missense_Mutation_p.R407W	p.R428W			Q13398	ZN211_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1609	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	416					B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	c.1282C>T	CCDS12957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	14.63|14.63	2.593776|2.593776	0.46214|0.46214	0.0|0.0	1.16E-4|1.16E-4	ENSG00000121417|ENSG00000121417	ENST00000407202|ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731	.|T;T;T;T;T;T;T;T	.|0.07688	.|3.17;3.17;3.17;3.17;3.17;3.17;3.17;3.17	3.38|3.38	-2.31|-2.31	0.06765|0.06765	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.17662|0.17662	0.0424|0.0424	L|L	0.54965|0.54965	1.715|1.715	0.09310|0.09310	N|N	1|1	.|B;D;D;D;B;B	.|0.89917	.|0.218;1.0;1.0;0.999;0.075;0.075	.|B;D;D;D;B;B	.|0.70935	.|0.015;0.938;0.971;0.93;0.025;0.025	T|T	0.13683|0.13683	-1.0500|-1.0500	5|9	.|0.62326	.|D	.|0.03	.|.	6.6109|6.6109	0.22751|0.22751	0.4273:0.4784:0.0:0.0942|0.4273:0.4784:0.0:0.0942	.|.	.|420;428;481;407;416;429	.|Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1	.|.;.;.;.;ZN211_HUMAN;.	L|W	419|420;416;407;355;407;481;428;429	.|ENSP00000399193:R420W;ENSP00000339562:R416W;ENSP00000254182:R407W;ENSP00000375584:R355W;ENSP00000442601:R407W;ENSP00000299871:R481W;ENSP00000441386:R428W;ENSP00000240731:R429W	.|ENSP00000240731:R429W	P|R	+|+	2|1	0|2	ZNF211|ZNF211	62844912|62844912	0.000000|0.000000	0.05858|0.05858	0.006000|0.006000	0.13384|0.13384	0.998000|0.998000	0.95712|0.95712	-0.355000|-0.355000	0.07671|0.07671	-0.074000|-0.074000	0.12820|0.12820	0.585000|0.585000	0.79938|0.79938	CCG|CGG		0.478	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			39	77	0	0	0	1	0	39	77				
VIT	5212	broad.mit.edu	37	2	36956606	36956606	+	Silent	SNP	G	G	A	rs147850488		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr2:36956606G>A	ENST00000389975.3	+	3	392	c.90G>A	c.(88-90)acG>acA	p.T30T	VIT_ENST00000497382.1_5'UTR|VIT_ENST00000457137.2_Silent_p.T30T|VIT_ENST00000404084.1_Intron|VIT_ENST00000379242.3_Silent_p.T30T|VIT_ENST00000379241.3_Silent_p.T30T|VIT_ENST00000401530.1_Silent_p.T30T	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	30					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				ACAAAGAAACGGCAAAGAAGA	0.308																																						ENST00000379242.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(88-90)acG>acA		vitrin		G	,,,,	1,4405	2.1+/-5.4	0,1,2202	85.0	84.0	84.0		90,90,90,90,90	-2.4	0.0	2	dbSNP_134	84	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	VIT	NM_001177969.1,NM_001177970.1,NM_001177971.1,NM_001177972.1,NM_053276.3	,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,	30/679,30/658,30/657,30/204,30/694	36956606	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5212					proteinaceous extracellular matrix		g.chr2:36956606G>A	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.90G>A	2.37:g.36956606G>A						VIT_ENST00000389975.3_Silent_p.T30T|VIT_ENST00000401530.1_Silent_p.T30T|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000404084.1_Intron|VIT_ENST00000379241.3_Silent_p.T30T|VIT_ENST00000457137.2_Silent_p.T30T	p.T30T	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN			3	392	+		all_hematologic(82;0.248)	30					A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Silent	SNP	ENST00000389975.3	37	c.90G>A	CCDS54347.1																																																																																				0.308	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				32	57	0	0	0	1	0	32	57				
CADM2	253559	broad.mit.edu	37	3	85935436	85935436	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:85935436C>A	ENST00000407528.2	+	4	523	c.461C>A	c.(460-462)gCa>gAa	p.A154E	CADM2_ENST00000383699.3_Missense_Mutation_p.A163E|CADM2_ENST00000405615.2_Missense_Mutation_p.A156E	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	154	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		AGTAAACCTGCAGCTGATATA	0.363																																						ENST00000383699.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38						c.(487-489)gCa>gAa		cell adhesion molecule 2							75.0	70.0	71.0					3																	85935436		2203	4300	6503	SO:0001583	missense	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:85935436C>A	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.461C>A	3.37:g.85935436C>A	ENSP00000384575:p.Ala154Glu					CADM2_ENST00000407528.2_Missense_Mutation_p.A154E|CADM2_ENST00000405615.2_Missense_Mutation_p.A156E	p.A163E	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	5	1115	+		Lung NSC(201;0.0148)	154			Ig-like C2-type 1.		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	c.488C>A	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280203	0.80692	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.77489	-1.1;-1.1;-1.1	5.43	4.56	0.56223	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87168	0.6110	M	0.79805	2.47	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	D	0.85835	0.1394	10	0.26408	T	0.33	.	14.1966	0.65675	0.0:0.9281:0.0:0.0719	.	156;163;154	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	E	163;154;156	ENSP00000373200:A163E;ENSP00000384575:A154E;ENSP00000384193:A156E	ENSP00000373200:A163E	A	+	2	0	CADM2	86018126	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.442000	0.80503	1.289000	0.44618	-0.145000	0.13849	GCA		0.363	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		21	55	1	0	2.39187e-15	1	2.49685e-15	21	55				
NCOA3	8202	broad.mit.edu	37	20	46264311	46264311	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr20:46264311C>T	ENST00000371998.3	+	11	1549	c.1358C>T	c.(1357-1359)tCc>tTc	p.S453F	NCOA3_ENST00000371997.3_Missense_Mutation_p.S463F|NCOA3_ENST00000341724.6_Missense_Mutation_p.S463F|NCOA3_ENST00000372004.3_Missense_Mutation_p.S453F			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	453					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TCACCATCTTCCTACCAGAAC	0.522																																						ENST00000372004.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1357-1359)tCc>tTc		nuclear receptor coactivator 3							72.0	68.0	70.0					20																	46264311		2203	4300	6503	SO:0001583	missense	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46264311C>T	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.1358C>T	20.37:g.46264311C>T	ENSP00000361066:p.Ser453Phe					NCOA3_ENST00000341724.6_Missense_Mutation_p.S463F|NCOA3_ENST00000371998.3_Missense_Mutation_p.S453F|NCOA3_ENST00000371997.3_Missense_Mutation_p.S463F	p.S453F	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			11	1574	+			453					A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	c.1358C>T	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895626	0.72639	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997;ENST00000542882	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	5.18	5.18	0.71444	.	0.353909	0.27841	N	0.017635	T	0.26268	0.0641	L	0.36672	1.1	0.43238	D	0.995148	B;B;P;P;P;P	0.48016	0.116;0.022;0.904;0.904;0.82;0.904	B;B;B;B;P;P	0.49561	0.146;0.009;0.396;0.396;0.6;0.615	T	0.01464	-1.1348	10	0.17832	T	0.49	-11.2118	18.6889	0.91576	0.0:1.0:0.0:0.0	.	453;463;457;453;453;453	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	F	453;463;453;453;463;219	ENSP00000342123:S463F;ENSP00000361073:S453F;ENSP00000361066:S453F;ENSP00000361065:S463F	ENSP00000345671:S453F	S	+	2	0	NCOA3	45697718	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.251000	0.65438	2.430000	0.82344	0.563000	0.77884	TCC		0.522	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		26	82	0	0	0	1	0	26	82				
FRMD7	90167	broad.mit.edu	37	X	131212241	131212241	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:131212241G>A	ENST00000298542.4	-	12	1979	c.1804C>T	c.(1804-1806)Cct>Tct	p.P602S	FRMD7_ENST00000464296.1_Missense_Mutation_p.P587S|FRMD7_ENST00000370879.1_Missense_Mutation_p.P482S	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	602					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GACCCAAAAGGAAAACGAATA	0.433																																						ENST00000298542.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1804-1806)Cct>Tct		FERM domain containing 7							95.0	86.0	89.0					X																	131212241		2203	4300	6503	SO:0001583	missense	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131212241G>A	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.1804C>T	X.37:g.131212241G>A	ENSP00000298542:p.Pro602Ser					FRMD7_ENST00000370879.1_Missense_Mutation_p.P482S|FRMD7_ENST00000464296.1_Missense_Mutation_p.P587S	p.P602S	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN			12	1979	-	Acute lymphoblastic leukemia(192;0.000127)		602					C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	c.1804C>T	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738469	0.69304	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.89746	-2.56;-2.18;-2.26	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000002	D	0.93916	0.8053	M	0.68593	2.085	0.40399	D	0.979628	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.962	D	0.94052	0.7319	10	0.51188	T	0.08	.	18.6356	0.91378	0.0:0.0:1.0:0.0	.	587;602	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	S	482;602;587	ENSP00000359916:P482S;ENSP00000298542:P602S;ENSP00000417996:P587S	ENSP00000298542:P602S	P	-	1	0	FRMD7	131039922	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.628000	0.67791	2.344000	0.79699	0.600000	0.82982	CCT		0.433	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		56	170	0	0	0	1	0	56	170				
MAPK1	5594	broad.mit.edu	37	22	22127164	22127164	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr22:22127164C>T	ENST00000215832.6	-	7	1152	c.964G>A	c.(964-966)Gag>Aag	p.E322K	MAPK1_ENST00000398822.3_Missense_Mutation_p.E322K|MAPK1_ENST00000544786.1_Missense_Mutation_p.E278K	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	322					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.E322K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	GCTCTTACCTCGTCACTCGGG	0.478																																						ENST00000215832.6																			1	Substitution - Missense(1)	p.E322K(1)	cervix(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(964-966)Gag>Aag		mitogen-activated protein kinase 1	Arsenic trioxide(DB01169)						165.0	132.0	143.0					22																	22127164		2203	4300	6503	SO:0001583	missense	5594				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|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|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr22:22127164C>T	M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.964G>A	22.37:g.22127164C>T	ENSP00000215832:p.Glu322Lys					MAPK1_ENST00000544786.1_Missense_Mutation_p.E278K|MAPK1_ENST00000398822.3_Missense_Mutation_p.E322K	p.E322K	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN		READ - Rectum adenocarcinoma(21;0.0689)	7	1152	-	Colorectal(54;0.105)	all_lung(157;3.89e-05)	322					A8CZ64	Missense_Mutation	SNP	ENST00000215832.6	37	c.964G>A	CCDS13795.1	.	.	.	.	.	.	.	.	.	.	C	35	5.567659	0.96540	.	.	ENSG00000100030	ENST00000215832;ENST00000415911;ENST00000398822;ENST00000544786	T;T;T	0.46063	0.88;0.88;0.88	4.9	4.9	0.64082	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79275	0.4418	H	0.98388	4.22	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.83275	0.905;0.996	D	0.87609	0.2502	10	0.87932	D	0	-8.3311	18.6384	0.91386	0.0:1.0:0.0:0.0	.	278;322	A8CZ64;P28482	.;MK01_HUMAN	K	322;310;322;278	ENSP00000215832:E322K;ENSP00000381803:E322K;ENSP00000440842:E278K	ENSP00000215832:E322K	E	-	1	0	MAPK1	20457164	1.000000	0.71417	0.999000	0.59377	0.862000	0.49288	7.564000	0.82326	2.706000	0.92434	0.655000	0.94253	GAG		0.478	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075396.2			20	37	0	0	0	1	0	20	37				
TINF2	26277	broad.mit.edu	37	14	24710319	24710319	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr14:24710319G>A	ENST00000267415.7	-	5	852	c.511C>T	c.(511-513)Cag>Tag	p.Q171*	TINF2_ENST00000558566.1_Intron|TINF2_ENST00000558510.1_5'Flank|TINF2_ENST00000538777.1_Intron|TINF2_ENST00000559019.1_Intron|TINF2_ENST00000399423.4_Nonsense_Mutation_p.Q171*|TINF2_ENST00000540705.1_Nonsense_Mutation_p.Q136*	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	171					negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of protein ADP-ribosylation (GO:0010836)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of telomere maintenance (GO:0032206)|protein localization to chromosome (GO:0034502)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinucleolar chromocenter (GO:0010370)	telomeric DNA binding (GO:0042162)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		AGCACATCCTGAAGCTGTGGG	0.542									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome																													ENST00000399423.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7						c.(511-513)Cag>Tag		TERF1 (TRF1)-interacting nuclear factor 2							147.0	145.0	146.0					14																	24710319		2065	4217	6282	SO:0001587	stop_gained	26277	Congenital Dyskeratosis;Ataxia Pancytopenia syndrome	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita;Myelocerebellar disorder	negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding	g.chr14:24710319G>A	AF195512	CCDS41936.1, CCDS41937.1	14q12	2008-07-29				ENSG00000092330			11824	protein-coding gene	gene with protein product		604319				10581025, 18252230	Standard	NM_012461		Approved	TIN2	uc001woa.4	Q9BSI4		ENST00000267415.7:c.511C>T	14.37:g.24710319G>A	ENSP00000267415:p.Gln171*					TINF2_ENST00000540705.1_Nonsense_Mutation_p.Q136*|TINF2_ENST00000558566.1_Intron|TINF2_ENST00000538777.1_Intron|TINF2_ENST00000559019.1_Intron|TINF2_ENST00000267415.7_Nonsense_Mutation_p.Q171*	p.Q171*	NM_012461.2	NP_036593.2	Q9BSI4	TINF2_HUMAN		GBM - Glioblastoma multiforme(265;0.0185)	5	841	-			171					B3W5Q7|Q9H904|Q9UHC2	Nonsense_Mutation	SNP	ENST00000267415.7	37	c.511C>T	CCDS41936.1	.	.	.	.	.	.	.	.	.	.	G	33	5.247850	0.95305	.	.	ENSG00000092330	ENST00000267415;ENST00000540705;ENST00000399423	.	.	.	5.57	4.6	0.57074	.	0.632402	0.16250	N	0.222759	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-1.5971	12.5448	0.56193	0.0:0.0:0.7845:0.2155	.	.	.	.	X	171;136;171	.	ENSP00000267415:Q171X	Q	-	1	0	TINF2	23780159	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.097000	0.41748	2.625000	0.88918	0.455000	0.32223	CAG		0.542	TINF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415406.2			116	137	0	0	0	1	0	116	137				
INTS1	26173	broad.mit.edu	37	7	1542722	1542722	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:1542722G>A	ENST00000404767.3	-	3	249	c.164C>T	c.(163-165)tCt>tTt	p.S55F	INTS1_ENST00000389470.4_Missense_Mutation_p.S183F|INTS1_ENST00000493531.1_5'Flank	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	55					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTTGCGCTCAGAAGGCAGGCC	0.647																																						ENST00000389470.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62						c.(547-549)tCt>tTt		integrator complex subunit 1							57.0	68.0	65.0					7																	1542722		2005	4163	6168	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1542722G>A	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.164C>T	7.37:g.1542722G>A	ENSP00000385722:p.Ser55Phe					INTS1_ENST00000404767.3_Missense_Mutation_p.S55F	p.S183F			Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	4	547	-		Ovarian(82;0.0253)	55					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.548C>T	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.879361	0.72294	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.55760	0.51;0.5	4.61	4.61	0.57282	.	0.309442	0.31301	N	0.007886	T	0.54382	0.1855	L	0.46157	1.445	0.46131	D	0.998885	P;P	0.51240	0.768;0.943	B;P	0.47430	0.338;0.547	T	0.61584	-0.7033	10	0.87932	D	0	.	16.3381	0.83073	0.0:0.0:1.0:0.0	.	183;55	A4D212;Q8N201	.;INT1_HUMAN	F	55;183	ENSP00000385722:S55F;ENSP00000374121:S183F	ENSP00000374121:S183F	S	-	2	0	INTS1	1509248	1.000000	0.71417	0.789000	0.31954	0.904000	0.53231	9.052000	0.93855	2.374000	0.81015	0.563000	0.77884	TCT		0.647	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			25	55	0	0	0	1	0	25	55				
MYH10	4628	broad.mit.edu	37	17	8411946	8411946	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr17:8411946G>T	ENST00000269243.4	-	24	3185	c.3047C>A	c.(3046-3048)gCt>gAt	p.A1016D	MYH10_ENST00000379980.4_Missense_Mutation_p.A1032D|RNU7-43P_ENST00000516554.1_RNA|MYH10_ENST00000396239.1_Missense_Mutation_p.A1037D|MYH10_ENST00000360416.3_Missense_Mutation_p.A1047D	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1016					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTCCTCTTCAGCCAGCTGAGA	0.413																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(3139-3141)gCt>gAt		myosin, heavy chain 10, non-muscle							177.0	160.0	165.0					17																	8411946		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8411946G>T	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.3047C>A	17.37:g.8411946G>T	ENSP00000269243:p.Ala1016Asp					MYH10_ENST00000396239.1_Missense_Mutation_p.A1037D|MYH10_ENST00000379980.4_Missense_Mutation_p.A1032D|MYH10_ENST00000269243.4_Missense_Mutation_p.A1016D	p.A1047D	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			26	3278	-			1016					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.3140C>A	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.974992	0.92919	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26	5.01	5.01	0.66863	.	0.067600	0.64402	D	0.000004	D	0.92515	0.7623	M	0.86178	2.8	0.80722	D	1	B;B;B	0.33904	0.116;0.184;0.431	B;P;B	0.47299	0.342;0.543;0.342	D	0.93016	0.6436	10	0.72032	D	0.01	.	18.5061	0.90898	0.0:0.0:1.0:0.0	.	1025;1047;1016	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	D	1016;1047;1037;1032	ENSP00000269243:A1016D;ENSP00000353590:A1047D;ENSP00000379539:A1037D;ENSP00000369315:A1032D	ENSP00000269243:A1016D	A	-	2	0	MYH10	8352671	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.648000	0.98483	2.587000	0.87381	0.563000	0.77884	GCT		0.413	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			80	119	1	0	9.31514e-26	1	9.84744e-26	80	119				
NFASC	23114	broad.mit.edu	37	1	204951100	204951100	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:204951100G>A	ENST00000401399.1	+	20	2621	c.2422G>A	c.(2422-2424)Ggg>Agg	p.G808R	NFASC_ENST00000339876.6_Missense_Mutation_p.G808R|NFASC_ENST00000338515.6_Missense_Mutation_p.G808R|NFASC_ENST00000404076.1_Missense_Mutation_p.G787R|NFASC_ENST00000513543.1_Missense_Mutation_p.G804R|NFASC_ENST00000367169.4_Missense_Mutation_p.G808R|NFASC_ENST00000404907.1_Missense_Mutation_p.G804R|NFASC_ENST00000360049.4_Missense_Mutation_p.G804R|NFASC_ENST00000367172.4_Missense_Mutation_p.G808R|NFASC_ENST00000367170.4_Missense_Mutation_p.G808R|NFASC_ENST00000338586.6_Missense_Mutation_p.G808R|NFASC_ENST00000367171.4_Missense_Mutation_p.G793R|NFASC_ENST00000539706.1_Missense_Mutation_p.G804R			O94856	NFASC_HUMAN	neurofascin	808	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AAATGACTTCGGGAAGGGCCC	0.602																																						ENST00000367172.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.(2422-2424)Ggg>Agg		neurofascin							65.0	58.0	60.0					1																	204951100		2203	4300	6503	SO:0001583	missense	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204951100G>A	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.2422G>A	1.37:g.204951100G>A	ENSP00000385637:p.Gly808Arg					NFASC_ENST00000404907.1_Missense_Mutation_p.G804R|NFASC_ENST00000539706.1_Missense_Mutation_p.G804R|NFASC_ENST00000401399.1_Missense_Mutation_p.G808R|NFASC_ENST00000339876.6_Missense_Mutation_p.G808R|NFASC_ENST00000360049.4_Missense_Mutation_p.G804R|NFASC_ENST00000404076.1_Missense_Mutation_p.G787R|NFASC_ENST00000513543.1_Missense_Mutation_p.G804R|NFASC_ENST00000367171.4_Missense_Mutation_p.G793R|NFASC_ENST00000338515.6_Missense_Mutation_p.G808R|NFASC_ENST00000367169.4_Missense_Mutation_p.G808R|NFASC_ENST00000367170.4_Missense_Mutation_p.G808R|NFASC_ENST00000338586.6_Missense_Mutation_p.G808R	p.G808R			O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		21	2750	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		808			Fibronectin type-III 2.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	c.2422G>A	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	G	32	5.173657	0.94807	.	.	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	5.55	5.55	0.83447	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000076	D	0.86715	0.5999	M	0.92833	3.35	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0;1.0;1.0	D	0.89535	0.3788	10	0.87932	D	0	.	19.1148	0.93334	0.0:0.0:1.0:0.0	.	808;819;804;808;793;808;804	O94856;O94856-11;O94856-8;O94856-4;F8W791;O94856-9;O94856-3	NFASC_HUMAN;.;.;.;.;.;.	R	808;793;808;808;808;808;819;804;804;808;787;808;804;804;795	ENSP00000356140:G808R;ENSP00000356139:G793R;ENSP00000356138:G808R;ENSP00000342128:G808R;ENSP00000344786:G808R;ENSP00000343509:G808R;ENSP00000438614:G804R;ENSP00000353154:G804R;ENSP00000356137:G808R;ENSP00000385676:G787R;ENSP00000385637:G808R;ENSP00000384061:G804R;ENSP00000425908:G804R;ENSP00000415031:G795R	ENSP00000295776:G819R	G	+	1	0	NFASC	203217723	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	9.806000	0.99153	2.614000	0.88457	0.563000	0.77884	GGG		0.602	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		14	28	0	0	0	1	0	14	28				
CDH20	28316	broad.mit.edu	37	18	59221574	59221574	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr18:59221574G>C	ENST00000262717.4	+	12	2450	c.2052G>C	c.(2050-2052)tgG>tgC	p.W684C	CDH20_ENST00000536675.2_Missense_Mutation_p.W684C|CDH20_ENST00000538374.1_Missense_Mutation_p.W684C			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	684					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CGGCCATGTGGAACCCCCGGG	0.682																																						ENST00000262717.4																			0				breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61						c.(2050-2052)tgG>tgC		cadherin 20, type 2							58.0	65.0	62.0					18																	59221574		2203	4300	6503	SO:0001583	missense	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59221574G>C	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.2052G>C	18.37:g.59221574G>C	ENSP00000262717:p.Trp684Cys					CDH20_ENST00000538374.1_Missense_Mutation_p.W684C|CDH20_ENST00000536675.2_Missense_Mutation_p.W684C	p.W684C			Q9HBT6	CAD20_HUMAN			12	2450	+		Colorectal(73;0.186)	684					Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	c.2052G>C	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545862	0.65198	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.76186	-1.0;-1.0;-1.0	5.78	5.78	0.91487	Cadherin, cytoplasmic domain (1);	0.113288	0.64402	D	0.000004	T	0.81475	0.4830	L	0.38175	1.15	0.80722	D	1	D	0.63046	0.992	D	0.64506	0.926	T	0.82135	-0.0607	10	0.87932	D	0	.	20.3668	0.98882	0.0:0.0:1.0:0.0	.	684	Q9HBT6	CAD20_HUMAN	C	684	ENSP00000444767:W684C;ENSP00000442226:W684C;ENSP00000262717:W684C	ENSP00000262717:W684C	W	+	3	0	CDH20	57372554	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.621000	0.74228	2.894000	0.99253	0.655000	0.94253	TGG		0.682	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		38	63	0	0	0	1	0	38	63				
KIF19	124602	broad.mit.edu	37	17	72349698	72349698	+	Silent	SNP	G	G	A	rs146555239	byFrequency	TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr17:72349698G>A	ENST00000389916.4	+	17	2424	c.2286G>A	c.(2284-2286)tcG>tcA	p.S762S	AC103809.2_ENST00000599136.1_5'Flank	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	762					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AGAACCTGTCGGAGATCCCCT	0.592													g|||	3	0.000599042	0.0	0.0	5008	,	,		18709	0.0		0.003	False		,,,				2504	0.0					ENST00000389916.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(2284-2286)tcG>tcA		kinesin family member 19				0,4006		0,0,2003	51.0	54.0	53.0		2286	-10.4	0.0	17	dbSNP_134	53	14,8324		0,14,4155	no	coding-synonymous	KIF19	NM_153209.3		0,14,6158	AA,AG,GG		0.1679,0.0,0.1134		762/999	72349698	14,12330	2003	4169	6172	SO:0001819	synonymous_variant	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72349698G>A	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.2286G>A	17.37:g.72349698G>A							p.S762S	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN			17	2424	+			762					A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Silent	SNP	ENST00000389916.4	37	c.2286G>A	CCDS32718.2																																																																																				0.592	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		13	27	0	0	0	1	0	13	27				
CNTN1	1272	broad.mit.edu	37	12	41386958	41386958	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:41386958G>A	ENST00000551295.2	+	17	2117	c.2000G>A	c.(1999-2001)aGa>aAa	p.R667K	CNTN1_ENST00000348761.2_Missense_Mutation_p.R656K|CNTN1_ENST00000347616.1_Missense_Mutation_p.R667K	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	667	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GAGGCAGCAAGAGCAGTGGAC	0.383																																						ENST00000551295.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(1999-2001)aGa>aAa		contactin 1							100.0	102.0	102.0					12																	41386958		2203	4300	6503	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41386958G>A	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2000G>A	12.37:g.41386958G>A	ENSP00000447006:p.Arg667Lys					CNTN1_ENST00000348761.2_Missense_Mutation_p.R656K|CNTN1_ENST00000347616.1_Missense_Mutation_p.R667K	p.R667K	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN			17	2117	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	667			Fibronectin type-III 1.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.2000G>A	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	G	5.119	0.207605	0.09704	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.56103	0.48;0.48;0.48	5.2	-2.31	0.06765	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.256358	0.45867	N	0.000327	T	0.34542	0.0901	L	0.33245	0.995	0.30344	N	0.785468	B;B	0.24186	0.081;0.099	B;B	0.25140	0.034;0.058	T	0.14448	-1.0472	10	0.33940	T	0.23	.	8.3803	0.32468	0.5314:0.1037:0.3649:0.0	.	656;667	Q12860-2;Q12860	.;CNTN1_HUMAN	K	667;667;656	ENSP00000447006:R667K;ENSP00000325660:R667K;ENSP00000261160:R656K	ENSP00000325660:R667K	R	+	2	0	CNTN1	39673225	0.018000	0.18449	0.923000	0.36655	0.988000	0.76386	-0.132000	0.10467	-0.742000	0.04790	0.555000	0.69702	AGA		0.383	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		63	89	0	0	0	1	0	63	89				
TNRC6B	23112	broad.mit.edu	37	22	40662468	40662468	+	Missense_Mutation	SNP	G	G	C	rs372960539		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr22:40662468G>C	ENST00000454349.2	+	5	2445	c.2234G>C	c.(2233-2235)gGa>gCa	p.G745A	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.G745A	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	745	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						TGGTCTTCTGGAAAGAATGGT	0.517																																						ENST00000454349.2																			0				breast(1)	1						c.(2233-2235)gGa>gCa		trinucleotide repeat containing 6B		G	,ALA/GLY,ALA/GLY	0,3784		0,0,1892	38.0	40.0	39.0		,2234,2234	5.5	1.0	22		39	1,8213		0,1,4106	no	intron,missense,missense	TNRC6B	NM_001024843.1,NM_001162501.1,NM_015088.2	,60,60	0,1,5998	CC,CG,GG		0.0122,0.0,0.0083	,probably-damaging,probably-damaging	,745/1834,745/1724	40662468	1,11997	1892	4107	5999	SO:0001583	missense	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40662468G>C	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.2234G>C	22.37:g.40662468G>C	ENSP00000401946:p.Gly745Ala					TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.8_Missense_Mutation_p.G745A|TNRC6B_ENST00000402203.1_Intron	p.G745A	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN			5	2445	+			745					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	c.2234G>C	CCDS54533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.211|1.211	-0.629591|-0.629591	0.03610|0.03610	0.0|0.0	1.22E-4|1.22E-4	ENSG00000100354|ENSG00000100354	ENST00000446273|ENST00000454349;ENST00000400140;ENST00000335727	.|T;T	.|0.13778	.|2.56;2.58	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	.|0.104249	.|0.64402	.|D	.|0.000004	T|T	0.22399|0.22399	0.0540|0.0540	N|N	0.25485|0.25485	0.75|0.75	0.50467|0.50467	D|D	0.999879|0.999879	.|D;D;D	.|0.58268	.|0.959;0.97;0.982	.|P;P;P	.|0.60789	.|0.556;0.761;0.879	T|T	0.03514|0.03514	-1.1029|-1.1029	5|10	.|0.16896	.|T	.|0.51	-4.2516|-4.2516	19.3028|19.3028	0.94150|0.94150	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|745;745;745	.|Q9UPQ9;A8MYY3;Q9UPQ9-1	.|TNR6B_HUMAN;.;.	Q|A	488|745	.|ENSP00000401946:G745A;ENSP00000338371:G745A	.|ENSP00000338371:G745A	E|G	+|+	1|2	0|0	TNRC6B|TNRC6B	38992414|38992414	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.077000|0.077000	0.17291|0.17291	9.365000|9.365000	0.97139|0.97139	2.575000|2.575000	0.86900|0.86900	0.561000|0.561000	0.74099|0.74099	GAA|GGA		0.517	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				11	27	0	0	0	1	0	11	27				
ADNP	23394	broad.mit.edu	37	20	49508078	49508078	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr20:49508078G>C	ENST00000396029.3	-	5	3740	c.3173C>G	c.(3172-3174)tCt>tGt	p.S1058C	ADNP_ENST00000396032.3_Missense_Mutation_p.S1058C|ADNP_ENST00000349014.3_Missense_Mutation_p.S1058C|ADNP_ENST00000371602.4_Missense_Mutation_p.S1058C	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	1058					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S1058fs*23(1)		NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CTGGGGGTTAGATAAGCGCTC	0.458																																						ENST00000396029.3																			1	Deletion - Frameshift(1)	p.S1058fs*23(1)	NS(1)	NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						c.(3172-3174)tCt>tGt		activity-dependent neuroprotector homeobox							160.0	146.0	151.0					20																	49508078		2203	4300	6503	SO:0001583	missense	23394					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:49508078G>C	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.3173C>G	20.37:g.49508078G>C	ENSP00000379346:p.Ser1058Cys					ADNP_ENST00000349014.3_Missense_Mutation_p.S1058C|ADNP_ENST00000371602.4_Missense_Mutation_p.S1058C|ADNP_ENST00000396032.3_Missense_Mutation_p.S1058C	p.S1058C	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN			5	3740	-			1058					E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	ENST00000396029.3	37	c.3173C>G	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.039312	0.35989	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	6.02	6.02	0.97574	.	0.233517	0.37857	N	0.001919	T	0.49304	0.1549	N	0.19112	0.55	0.36639	D	0.876721	B	0.28512	0.214	B	0.30179	0.112	T	0.54118	-0.8341	9	0.62326	D	0.03	-18.0981	20.5407	0.99260	0.0:0.0:1.0:0.0	.	1058	Q9H2P0	ADNP_HUMAN	C	1058	.	ENSP00000342905:S1058C	S	-	2	0	ADNP	48941485	1.000000	0.71417	0.965000	0.40720	0.997000	0.91878	5.643000	0.67895	2.865000	0.98341	0.655000	0.94253	TCT		0.458	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		56	194	0	0	0	1	0	56	194				
LACE1	246269	broad.mit.edu	37	6	108843519	108843519	+	Missense_Mutation	SNP	C	C	A	rs149085596		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr6:108843519C>A	ENST00000368977.4	+	13	1523	c.1337C>A	c.(1336-1338)tCc>tAc	p.S446Y		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	446						mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		GAAGGACTCTCCATGTTTACC	0.368																																						ENST00000368977.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15						c.(1336-1338)tCc>tAc		lactation elevated 1							74.0	68.0	70.0					6																	108843519		2203	4300	6503	SO:0001583	missense	246269						ATP binding	g.chr6:108843519C>A	AF520418	CCDS5067.1	6q22.1	2006-11-10			ENSG00000135537	ENSG00000135537			16411	protein-coding gene	gene with protein product	"""ATPase family gene 1 homolog (S. cerevisiae)"""					12079282	Standard	XM_005266885		Approved	AFG1	uc003psj.3	Q8WV93	OTTHUMG00000015324	ENST00000368977.4:c.1337C>A	6.37:g.108843519C>A	ENSP00000357973:p.Ser446Tyr						p.S446Y	NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)	13	1523	+		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)	446					Q8N6A3	Missense_Mutation	SNP	ENST00000368977.4	37	c.1337C>A	CCDS5067.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.015974|4.015974	0.75161|0.75161	.|.	.|.	ENSG00000135537|ENSG00000135537	ENST00000421954|ENST00000368977	.|.	.|.	.|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|0.363596	.|0.32175	.|N	.|0.006472	T|T	0.67804|0.67804	0.2932|0.2932	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	.|P	.|0.45011	.|0.848	.|P	.|0.49953	.|0.627	T|T	0.71189|0.71189	-0.4666|-0.4666	5|9	.|0.87932	.|D	.|0	-1.8173|-1.8173	19.7753|19.7753	0.96389|0.96389	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|446	.|Q8WV93	.|LACE1_HUMAN	T|Y	314|446	.|.	.|ENSP00000357973:S446Y	P|S	+|+	1|2	0|0	LACE1|LACE1	108950212|108950212	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.996000|0.996000	0.88848|0.88848	7.352000|7.352000	0.79404|0.79404	2.777000|2.777000	0.95525|0.95525	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.368	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041719.4	NM_145315		4	103	1	0	0.00024832	1	0.000252876	4	103				
PLA2G4E	123745	broad.mit.edu	37	15	42285087	42285087	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr15:42285087G>A	ENST00000399518.3	-	13	1804	c.1318C>T	c.(1318-1320)Cgg>Tgg	p.R440W	CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Missense_Mutation_p.R411W	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	428	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		ACATGTCTCCGAGCCTCAAAG	0.572																																						ENST00000399518.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16						c.(1318-1320)Cgg>Tgg		phospholipase A2, group IVE							47.0	49.0	48.0					15																	42285087		1949	4148	6097	SO:0001583	missense	123745				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42285087G>A		CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000399518.3:c.1318C>T	15.37:g.42285087G>A	ENSP00000382434:p.Arg440Trp					PLA2G4E_ENST00000413860.2_Missense_Mutation_p.R411W|CTD-2382E5.1_ENST00000499478.2_RNA	p.R440W	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)	13	1804	-		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)	428			PLA2c.		Q6ZSC0	Missense_Mutation	SNP	ENST00000399518.3	37	c.1318C>T	CCDS55962.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099115	0.76983	.	.	ENSG00000188089	ENST00000399518;ENST00000413860	T;T	0.11277	2.79;2.79	5.52	5.52	0.82312	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.102042	0.45867	D	0.000325	T	0.34861	0.0912	M	0.82716	2.605	0.34965	D	0.752559	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.51411	-0.8709	10	0.87932	D	0	-5.692	11.8329	0.52305	0.0:0.0:0.7192:0.2808	.	411;428	C9JK77;Q3MJ16	.;PA24E_HUMAN	W	440;411	ENSP00000382434:R440W;ENSP00000413897:R411W	ENSP00000382434:R440W	R	-	1	2	PLA2G4E	40072379	0.999000	0.42202	1.000000	0.80357	0.958000	0.62258	3.680000	0.54641	2.586000	0.87340	0.655000	0.94253	CGG		0.572	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2	NM_198442		12	17	0	0	0	1	0	12	17				
JAG2	3714	broad.mit.edu	37	14	105609968	105609968	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr14:105609968C>T	ENST00000331782.3	-	25	3495	c.3092G>A	c.(3091-3093)aGc>aAc	p.S1031N	JAG2_ENST00000347004.2_Missense_Mutation_p.S993N	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1031					auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CCTGGCAGGGCTGAAGGACTG	0.682																																						ENST00000331782.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(3091-3093)aGc>aAc		jagged 2							47.0	45.0	46.0					14																	105609968		2202	4298	6500	SO:0001583	missense	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105609968C>T	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.3092G>A	14.37:g.105609968C>T	ENSP00000328169:p.Ser1031Asn					JAG2_ENST00000347004.2_Missense_Mutation_p.S993N	p.S1031N	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	25	3495	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	1031					Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	c.3092G>A	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.753652	0.31046	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.86562	-2.14;-2.14	4.55	4.55	0.56014	.	0.627918	0.17726	N	0.164048	D	0.85111	0.5622	M	0.62723	1.935	0.29291	N	0.869378	P;P	0.39862	0.692;0.565	B;B	0.41764	0.366;0.201	T	0.79512	-0.1773	10	0.26408	T	0.33	.	10.4667	0.44611	0.317:0.683:0.0:0.0	.	993;1031	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	N	1031;993	ENSP00000328169:S1031N;ENSP00000328566:S993N	ENSP00000328169:S1031N	S	-	2	0	JAG2	104681013	1.000000	0.71417	1.000000	0.80357	0.302000	0.27658	0.551000	0.23361	2.081000	0.62600	0.313000	0.20887	AGC		0.682	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			6	5	0	0	0	1	0	6	5				
NEUROD4	58158	broad.mit.edu	37	12	55420738	55420738	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:55420738G>C	ENST00000242994.3	+	2	893	c.515G>C	c.(514-516)gGa>gCa	p.G172A		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	172					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CTGGTGGCTGGATGTCTCCAA	0.517																																						ENST00000242994.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(514-516)gGa>gCa		neuronal differentiation 4							54.0	57.0	56.0					12																	55420738		2203	4300	6503	SO:0001583	missense	58158				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:55420738G>C	AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.515G>C	12.37:g.55420738G>C	ENSP00000242994:p.Gly172Ala						p.G172A	NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN			2	893	+			172					B2RAC9	Missense_Mutation	SNP	ENST00000242994.3	37	c.515G>C	CCDS8886.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570295	0.86542	.	.	ENSG00000123307	ENST00000242994	T	0.74002	-0.8	5.56	5.56	0.83823	Neurogenic differentiation factor, domain of unknown function (1);	0.000000	0.85682	D	0.000000	D	0.87454	0.6181	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88661	0.3189	10	0.87932	D	0	-28.8041	17.4011	0.87459	0.0:0.0:1.0:0.0	.	172	Q9HD90	NDF4_HUMAN	A	172	ENSP00000242994:G172A	ENSP00000242994:G172A	G	+	2	0	NEUROD4	53707005	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.774000	0.95407	0.655000	0.94253	GGA		0.517	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1			32	55	0	0	0	1	0	32	55				
FGG	2266	broad.mit.edu	37	4	155531239	155531239	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr4:155531239A>T	ENST00000336098.3	-	5	550	c.512T>A	c.(511-513)aTc>aAc	p.I171N	FGG_ENST00000407946.1_Missense_Mutation_p.I171N|FGG_ENST00000404648.3_Missense_Mutation_p.I171N|FGG_ENST00000405164.1_Missense_Mutation_p.I171N	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	171	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GATATCATGGATTTGCACCGT	0.368																																						ENST00000404648.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(511-513)aTc>aAc		fibrinogen gamma chain	Sucralfate(DB00364)						188.0	171.0	177.0					4																	155531239		2203	4300	6503	SO:0001583	missense	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155531239A>T		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.512T>A	4.37:g.155531239A>T	ENSP00000336829:p.Ile171Asn					FGG_ENST00000405164.1_Missense_Mutation_p.I171N|FGG_ENST00000407946.1_Missense_Mutation_p.I171N|FGG_ENST00000336098.3_Missense_Mutation_p.I171N	p.I171N	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN			5	751	-	all_hematologic(180;0.215)	Renal(120;0.0458)	171			Fibrinogen C-terminal.		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	ENST00000336098.3	37	c.512T>A	CCDS3788.1	.	.	.	.	.	.	.	.	.	.	A	17.61	3.432281	0.62844	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946;ENST00000443553;ENST00000393846	D;D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38;-2.38	5.48	5.48	0.80851	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (1);Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	0.000000	0.85682	D	0.000000	D	0.93858	0.8035	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;1.0;1.0	D	0.94508	0.7716	10	0.87932	D	0	.	15.8539	0.78960	1.0:0.0:0.0:0.0	.	171;171;171;171	C9JC84;P02679;C9JEU5;P02679-2	.;FIBG_HUMAN;.;.	N	171;171;171;171;68;68	ENSP00000384860:I171N;ENSP00000384101:I171N;ENSP00000336829:I171N;ENSP00000384552:I171N;ENSP00000407562:I68N;ENSP00000377429:I68N	ENSP00000336829:I171N	I	-	2	0	FGG	155750689	1.000000	0.71417	0.267000	0.24556	0.287000	0.27160	8.548000	0.90669	2.199000	0.70637	0.533000	0.62120	ATC		0.368	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		63	96	0	0	0	1	0	63	96				
CAPN12	147968	broad.mit.edu	37	19	39230743	39230743	+	Missense_Mutation	SNP	G	G	C	rs148710823		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:39230743G>C	ENST00000328867.4	-	5	985	c.677C>G	c.(676-678)tCt>tGt	p.S226C	CTD-2540F13.2_ENST00000602255.1_RNA|CAPN12_ENST00000601953.1_Missense_Mutation_p.S77C	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	226	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GCGCAGGGCAGAGAACAGCCC	0.627																																						ENST00000328867.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(676-678)tCt>tGt		calpain 12							44.0	39.0	40.0					19																	39230743		2203	4300	6503	SO:0001583	missense	147968				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:39230743G>C	BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"""EF-hand domain containing"""	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.677C>G	19.37:g.39230743G>C	ENSP00000331636:p.Ser226Cys					CAPN12_ENST00000601953.1_Missense_Mutation_p.S77C	p.S226C	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		5	985	-	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		226			Calpain catalytic.			Missense_Mutation	SNP	ENST00000328867.4	37	c.677C>G	CCDS12519.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.556999	0.27827	.	.	ENSG00000182472	ENST00000328867	T	0.17691	2.26	4.82	3.79	0.43588	Peptidase C2, calpain, catalytic domain (3);	0.600804	0.17543	N	0.170476	T	0.20780	0.0500	L	0.49640	1.575	0.09310	N	1	P	0.50528	0.936	P	0.47626	0.552	T	0.06023	-1.0850	10	0.54805	T	0.06	.	8.8677	0.35296	0.1047:0.0:0.8953:0.0	.	226	Q6ZSI9	CAN12_HUMAN	C	226	ENSP00000331636:S226C	ENSP00000331636:S226C	S	-	2	0	CAPN12	43922583	0.001000	0.12720	0.117000	0.21633	0.869000	0.49853	0.714000	0.25808	1.024000	0.39682	0.455000	0.32223	TCT		0.627	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1			8	37	0	0	0	1	0	8	37				
OGFR	11054	broad.mit.edu	37	20	61444938	61444938	+	Silent	SNP	G	G	T	rs146902893	byFrequency	TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr20:61444938G>T	ENST00000290291.6	+	7	1996	c.1971G>T	c.(1969-1971)gcG>gcT	p.A657A	OGFR_ENST00000370461.1_Silent_p.A605A	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	657					opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					CAGCCAAGGCGGGGGAGGCAG	0.672																																						ENST00000370461.1																			0				endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17						c.(1813-1815)gcG>gcT		opioid growth factor receptor							40.0	45.0	43.0					20																	61444938		2198	4292	6490	SO:0001819	synonymous_variant	11054				regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity	g.chr20:61444938G>T	AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.1971G>T	20.37:g.61444938G>T						OGFR_ENST00000290291.6_Silent_p.A657A|OGFR_ENST00000370468.3_Intron	p.A605A			Q9NZT2	OGFR_HUMAN			5	4092	+	Breast(26;3.65e-08)		657			7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].		O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Silent	SNP	ENST00000290291.6	37	c.1815G>T	CCDS13504.1																																																																																				0.672	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1			3	114	1	0	1	1	1	3	114				
PRDM14	63978	broad.mit.edu	37	8	70981882	70981882	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr8:70981882G>A	ENST00000276594.2	-	2	415	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	72					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GGCGCCATCCGGAAGGGGAAG	0.652																																					NSCLC(129;99 1813 5906 40656 46114)	ENST00000276594.2																			0				NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(214-216)Cgg>Tgg		PR domain containing 14							10.0	9.0	9.0					8																	70981882		2183	4264	6447	SO:0001583	missense	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70981882G>A	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.214C>T	8.37:g.70981882G>A	ENSP00000276594:p.Arg72Trp						p.R72W	NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		2	415	-	Breast(64;0.193)		72					Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	37	c.214C>T	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.380036	0.24944	.	.	ENSG00000147596	ENST00000276594;ENST00000426346	T	0.12465	2.68	5.48	-0.0484	0.13839	.	0.655859	0.14648	N	0.306794	T	0.08492	0.0211	L	0.34521	1.04	0.09310	N	1	B	0.15473	0.013	B	0.08055	0.003	T	0.28267	-1.0049	10	0.72032	D	0.01	-1.5835	2.8279	0.05490	0.1681:0.2651:0.4385:0.1282	.	72	Q9GZV8	PRD14_HUMAN	W	72	ENSP00000276594:R72W	ENSP00000276594:R72W	R	-	1	2	PRDM14	71144436	0.179000	0.23135	0.000000	0.03702	0.004000	0.04260	0.198000	0.17217	0.265000	0.21872	-0.136000	0.14681	CGG		0.652	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			7	10	0	0	0	1	0	7	10				
LOC102724392	102724392	broad.mit.edu	37	5	70671819	70671819	+	lincRNA	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:70671819C>T	ENST00000502659.2	-	0	698				RP11-136K7.3_ENST00000518473.1_lincRNA|PMCHL2_ENST00000450213.2_RNA																							AGCTAAATTTCCTATAGGAAG	0.373																																						ENST00000502659.2																			0																																																			102724392							g.chr5:70671819C>T																													5.37:g.70671819C>T						PMCHL2_ENST00000450213.2_RNA								0	698	-									RNA	SNP	ENST00000502659.2	37																																																																																						0.373	RP11-136K7.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000374679.1			5	14	0	0	0	1	0	5	14				
OR11L1	391189	broad.mit.edu	37	1	248004499	248004499	+	Missense_Mutation	SNP	G	G	A	rs147783465	byFrequency	TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:248004499G>A	ENST00000355784.2	-	1	755	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	234						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GTCTTTCTCCGGCCAGAGGTG	0.502													G|||	5	0.000998403	0.0038	0.0	5008	,	,		20225	0.0		0.0	False		,,,				2504	0.0					ENST00000355784.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(700-702)Cgg>Tgg		olfactory receptor, family 11, subfamily L, member 1		G	TRP/ARG	10,4396	16.8+/-37.8	0,10,2193	93.0	94.0	93.0		700	-0.4	0.0	1	dbSNP_134	93	0,8600		0,0,4300	yes	missense	OR11L1	NM_001001959.1	101	0,10,6493	AA,AG,GG		0.0,0.227,0.0769	probably-damaging	234/323	248004499	10,12996	2203	4300	6503	SO:0001583	missense	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004499G>A	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.700C>T	1.37:g.248004499G>A	ENSP00000348033:p.Arg234Trp						p.R234W	NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	755	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		234						Missense_Mutation	SNP	ENST00000355784.2	37	c.700C>T	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	G	8.881	0.951712	0.18431	0.00227	0.0	ENSG00000197591	ENST00000355784	T	0.00335	8.06	4.41	-0.39	0.12450	GPCR, rhodopsin-like superfamily (1);	0.246709	0.20079	U	0.099687	T	0.00356	0.0011	M	0.71920	2.185	0.09310	N	1	P	0.37525	0.598	B	0.43680	0.427	T	0.39563	-0.9608	10	0.87932	D	0	.	6.5832	0.22607	0.1519:0.0:0.2909:0.5571	.	234	Q8NGX0	O11L1_HUMAN	W	234	ENSP00000348033:R234W	ENSP00000348033:R234W	R	-	1	2	OR11L1	246071122	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.376000	0.07465	-0.152000	0.11156	0.536000	0.68110	CGG		0.502	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		38	115	0	0	0	1	0	38	115				
DKK1	22943	broad.mit.edu	37	10	54074713	54074713	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr10:54074713G>A	ENST00000373970.3	+	2	413	c.274G>A	c.(274-276)Ggc>Agc	p.G92S	DKK1_ENST00000467359.1_3'UTR|PRKG1-AS1_ENST00000420193.1_RNA	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	92	DKK-type Cys-1.				cell morphogenesis involved in differentiation (GO:0000904)|embryonic limb morphogenesis (GO:0030326)|endoderm formation (GO:0001706)|extracellular negative regulation of signal transduction (GO:1900116)|face morphogenesis (GO:0060325)|forebrain development (GO:0030900)|hair follicle development (GO:0001942)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901296)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|regulation of endodermal cell fate specification (GO:0042663)|regulation of receptor internalization (GO:0002090)|response to retinoic acid (GO:0032526)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						CGAGGAGTGCGGCACTGATGA	0.672											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373970.3																			0				kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						c.(274-276)Ggc>Agc		dickkopf WNT signaling pathway inhibitor 1							37.0	32.0	34.0					10																	54074713		2203	4300	6503	SO:0001583	missense	22943				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity	g.chr10:54074713G>A		CCDS7246.1	10q11.2	2013-05-15	2013-05-15		ENSG00000107984	ENSG00000107984			2891	protein-coding gene	gene with protein product		605189	"""dickkopf (Xenopus laevis) homolog 1"", ""dickkopf 1 homolog (Xenopus laevis)"""				Standard	NM_012242		Approved	SK, DKK-1	uc001jjr.3	O94907	OTTHUMG00000018247	ENST00000373970.3:c.274G>A	10.37:g.54074713G>A	ENSP00000363081:p.Gly92Ser		OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	997	DKK1_ENST00000467359.1_3'UTR	p.G92S	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN			2	413	+			92			DKK-type Cys-1.		B2RC19	Missense_Mutation	SNP	ENST00000373970.3	37	c.274G>A	CCDS7246.1	.	.	.	.	.	.	.	.	.	.	G	8.704	0.910358	0.17833	.	.	ENSG00000107984	ENST00000373970	T	0.40476	1.03	5.63	-1.78	0.07957	Dickkopf, N-terminal cysteine-rich (1);	0.573647	0.18963	N	0.126329	T	0.14485	0.0350	N	0.03917	-0.325	0.29340	N	0.866085	B	0.13594	0.008	B	0.08055	0.003	T	0.31586	-0.9938	10	0.11182	T	0.66	-7.085	8.0541	0.30596	0.285:0.1064:0.6086:0.0	.	92	O94907	DKK1_HUMAN	S	92	ENSP00000363081:G92S	ENSP00000363081:G92S	G	+	1	0	DKK1	53744719	0.007000	0.16637	0.420000	0.26596	0.984000	0.73092	1.571000	0.36450	-0.295000	0.08960	0.650000	0.86243	GGC		0.672	DKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048100.1			10	16	0	0	0	1	0	10	16				
SNRK	54861	broad.mit.edu	37	3	43388882	43388882	+	Silent	SNP	C	C	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:43388882C>G	ENST00000296088.7	+	7	1435	c.1131C>G	c.(1129-1131)ctC>ctG	p.L377L	SNRK_ENST00000437827.1_Silent_p.L171L|SNRK-AS1_ENST00000422681.1_RNA|SNRK_ENST00000454177.1_Silent_p.L377L|SNRK_ENST00000429705.2_Silent_p.L377L|RP11-188P20.3_ENST00000607513.1_RNA	NM_017719.4	NP_060189.3			SNF related kinase											breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		AGGATGACCTCACGGCCACTC	0.522																																						ENST00000296088.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27						c.(1129-1131)ctC>ctG		SNF related kinase							86.0	92.0	90.0					3																	43388882		2008	4184	6192	SO:0001819	synonymous_variant	54861				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr3:43388882C>G	D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.1131C>G	3.37:g.43388882C>G						SNRK_ENST00000454177.1_Silent_p.L377L|SNRK_ENST00000437827.1_Silent_p.L171L|SNRK_ENST00000429705.2_Silent_p.L377L|RP11-188P20.3_ENST00000607513.1_RNA	p.L377L	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)	7	1435	+			377						Silent	SNP	ENST00000296088.7	37	c.1131C>G	CCDS43075.1																																																																																				0.522	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344325.1	NM_017719		26	110	0	0	0	1	0	26	110				
TEX264	51368	broad.mit.edu	37	3	51708495	51708495	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:51708495G>A	ENST00000415259.1	+	2	1256	c.175G>A	c.(175-177)Gag>Aag	p.E59K	TEX264_ENST00000341333.5_Missense_Mutation_p.E59K|TEX264_ENST00000457573.1_Missense_Mutation_p.E59K|TEX264_ENST00000416589.1_Missense_Mutation_p.E59K|TEX264_ENST00000395057.1_Missense_Mutation_p.E59K			Q9Y6I9	TX264_HUMAN	testis expressed 264	59						extracellular vesicular exosome (GO:0070062)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		GCTCTATGGTGAGACTGGGCG	0.587																																						ENST00000415259.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7						c.(175-177)Gag>Aag		testis expressed 264							74.0	66.0	68.0					3																	51708495		2203	4300	6503	SO:0001583	missense	51368					extracellular region		g.chr3:51708495G>A	AF072733	CCDS2833.1, CCDS74945.1	3p21	2007-03-13	2007-03-13		ENSG00000164081	ENSG00000164081			30247	protein-coding gene	gene with protein product			"""testis expressed gene 264"", ""testis expressed sequence 264"""			12975309	Standard	NM_001243725		Approved	ZSIG11, FLJ13935	uc003dbm.4	Q9Y6I9	OTTHUMG00000156901	ENST00000415259.1:c.175G>A	3.37:g.51708495G>A	ENSP00000396628:p.Glu59Lys					TEX264_ENST00000395057.1_Missense_Mutation_p.E59K|TEX264_ENST00000416589.1_Missense_Mutation_p.E59K|TEX264_ENST00000341333.5_Missense_Mutation_p.E59K|TEX264_ENST00000457573.1_Missense_Mutation_p.E59K	p.E59K			Q9Y6I9	TX264_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)	2	1256	+			59					B3KN87|Q9UKD7	Missense_Mutation	SNP	ENST00000415259.1	37	c.175G>A	CCDS2833.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310425	0.60414	.	.	ENSG00000164081	ENST00000419358;ENST00000457573;ENST00000341333;ENST00000412249;ENST00000425781;ENST00000415259;ENST00000395057;ENST00000416589;ENST00000457927;ENST00000444233	T;T;T;T;T;T;T;T;T;T	0.02421	4.3;4.3;4.3;4.3;4.3;4.3;4.3;4.3;4.3;4.3	5.47	4.6	0.57074	Regulatory factor, effector, bacterial (1);	0.538331	0.21155	N	0.079259	T	0.04724	0.0128	L	0.50333	1.59	0.27707	N	0.945575	P;P	0.43231	0.801;0.549	B;B	0.41036	0.346;0.138	T	0.18335	-1.0340	10	0.44086	T	0.13	-1.3973	13.3228	0.60442	0.0761:0.0:0.9239:0.0	.	59;59	Q53GI2;Q9Y6I9	.;TX264_HUMAN	K	59	ENSP00000408989:E59K;ENSP00000408186:E59K;ENSP00000340969:E59K;ENSP00000393736:E59K;ENSP00000405783:E59K;ENSP00000396628:E59K;ENSP00000378497:E59K;ENSP00000398802:E59K;ENSP00000407151:E59K;ENSP00000415957:E59K	ENSP00000340969:E59K	E	+	1	0	TEX264	51683535	0.999000	0.42202	0.846000	0.33378	0.989000	0.77384	2.444000	0.44890	1.327000	0.45338	0.561000	0.74099	GAG		0.587	TEX264-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346530.1	NM_015926		33	94	0	0	0	1	0	33	94				
GGA2	23062	broad.mit.edu	37	16	23491207	23491207	+	Splice_Site	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr16:23491207G>C	ENST00000309859.4	-	11	1090	c.1008C>G	c.(1006-1008)gtC>gtG	p.V336V	GGA2_ENST00000569182.1_5'UTR|GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	336	Unstructured hinge.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		GATTCTGAAAGACTAGAAAGC	0.502																																						ENST00000309859.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21						c.e11-1		golgi-associated, gamma adaptin ear containing, ARF binding protein 2							72.0	64.0	67.0					16																	23491207		2197	4300	6497	SO:0001630	splice_region_variant	23062				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	g.chr16:23491207G>C	AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.1007-1C>G	16.37:g.23491207G>C						GGA2_ENST00000569182.1_5'UTR|GGA2_ENST00000567468.1_Intron	p.V336_splice	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN		GBM - Glioblastoma multiforme(48;0.0386)	11	1090	-			336			Unstructured hinge.		D3DWF0|O14564|Q9NYN2|Q9UPS2	Splice_Site	SNP	ENST00000309859.4	37	c.1006_splice	CCDS10611.1																																																																																				0.502	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1		Silent	15	22	0	0	0	1	0	15	22				
ZNF549	256051	broad.mit.edu	37	19	58048682	58048682	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:58048682C>T	ENST00000376233.3	+	4	491	c.310C>T	c.(310-312)Cat>Tat	p.H104Y	ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.H91Y|ZNF549_ENST00000594943.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	104	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H91Y(1)|p.H104Y(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCCAAATGCTCATTCTTGTGA	0.512																																						ENST00000376233.3																			2	Substitution - Missense(2)	p.H91Y(1)|p.H104Y(1)	lung(2)	NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(310-312)Cat>Tat		zinc finger protein 549							143.0	121.0	128.0					19																	58048682		2203	4300	6503	SO:0001583	missense	256051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58048682C>T	AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"""Zinc fingers, C2H2-type"", ""-"""	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.310C>T	19.37:g.58048682C>T	ENSP00000365407:p.His104Tyr					ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.H91Y|ZNF550_ENST00000601415.1_Intron	p.H104Y	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	491	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	104			KRAB.		B3KV91|O43336|Q8NAR4	Missense_Mutation	SNP	ENST00000376233.3	37	c.310C>T	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	C	4.963	0.178889	0.09443	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.52295	0.67;0.67	2.28	0.0889	0.14456	Krueppel-associated box (1);	.	.	.	.	T	0.18759	0.0450	N	0.04724	-0.175	0.09310	N	1	B;B	0.15719	0.0;0.014	B;B	0.20955	0.001;0.032	T	0.30179	-0.9987	9	0.02654	T	1	.	4.4541	0.11635	0.0:0.655:0.0:0.345	.	104;91	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	Y	91;104	ENSP00000240719:H91Y;ENSP00000365407:H104Y	ENSP00000240719:H91Y	H	+	1	0	ZNF549	62740494	0.000000	0.05858	0.003000	0.11579	0.025000	0.11179	-0.298000	0.08265	0.084000	0.17077	-0.136000	0.14681	CAT		0.512	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263		49	138	0	0	0	1	0	49	138				
FER1L6	654463	broad.mit.edu	37	8	125076810	125076810	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr8:125076810C>T	ENST00000522917.1	+	26	3757	c.3551C>T	c.(3550-3552)cCt>cTt	p.P1184L	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.P1184L	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1184						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GATGGAAAACCTAAGGTCAGA	0.517																																						ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(3550-3552)cCt>cTt		fer-1-like 6 (C. elegans)							53.0	55.0	55.0					8																	125076810		1909	4128	6037	SO:0001583	missense	654463					integral to membrane		g.chr8:125076810C>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3551C>T	8.37:g.125076810C>T	ENSP00000428280:p.Pro1184Leu					FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.P1184L	p.P1184L	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		26	3757	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1184						Missense_Mutation	SNP	ENST00000522917.1	37	c.3551C>T	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	C	2.717	-0.267550	0.05754	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.80123	-1.34;-1.34	4.99	-4.97	0.03029	.	2.692160	0.01392	U	0.013280	T	0.58119	0.2100	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45948	-0.9226	10	0.27082	T	0.32	16.7354	3.1688	0.06545	0.126:0.4793:0.1259:0.2688	.	1184	Q2WGJ9	FR1L6_HUMAN	L	1184	ENSP00000428280:P1184L;ENSP00000381982:P1184L	ENSP00000381982:P1184L	P	+	2	0	FER1L6	125145991	0.009000	0.17119	0.006000	0.13384	0.053000	0.15095	-0.559000	0.05971	-0.834000	0.04239	-0.379000	0.06801	CCT		0.517	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		18	52	0	0	0	1	0	18	52				
CEP89	84902	broad.mit.edu	37	19	33370171	33370171	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:33370171C>T	ENST00000305768.5	-	19	2337	c.2249G>A	c.(2248-2250)aGa>aAa	p.R750K	CTD-2085J24.4_ENST00000586628.2_lincRNA	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	750					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						AACCAGAGCTCTGGGGTTGTC	0.562																																						ENST00000305768.4																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						c.(2248-2250)aGa>aAa		centrosomal protein 89kDa							142.0	136.0	138.0					19																	33370171		2203	4300	6503	SO:0001583	missense	84902					centrosome|spindle pole		g.chr19:33370171C>T	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"""coiled-coil domain containing 123"""	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.2249G>A	19.37:g.33370171C>T	ENSP00000306105:p.Arg750Lys						p.R750K	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN			19	2337	-			750					B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	c.2249G>A	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	C	6.613	0.481588	0.12581	.	.	ENSG00000121289	ENST00000305768	T	0.29142	1.58	5.12	-0.311	0.12761	.	1.081280	0.07286	N	0.871545	T	0.13114	0.0318	N	0.14661	0.345	0.09310	N	1	B	0.13594	0.008	B	0.14578	0.011	T	0.30119	-0.9989	10	0.02654	T	1	1.0492	4.0117	0.09626	0.0:0.3089:0.4064:0.2847	.	750	Q96ST8	CEP89_HUMAN	K	750	ENSP00000306105:R750K	ENSP00000306105:R750K	R	-	2	0	CEP89	38062011	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.063000	0.14410	0.221000	0.20879	0.561000	0.74099	AGA		0.562	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		71	168	0	0	0	1	0	71	168				
TM2D2	83877	broad.mit.edu	37	8	38851142	38851142	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr8:38851142G>A	ENST00000456397.2	-	3	446	c.353C>T	c.(352-354)tCa>tTa	p.S118L	TM2D2_ENST00000412303.1_Missense_Mutation_p.S75L|TM2D2_ENST00000456845.2_Missense_Mutation_p.S75L|TM2D2_ENST00000397070.2_Missense_Mutation_p.S75L|TM2D2_ENST00000522434.1_5'UTR	NM_078473.2	NP_510882.1	Q9BX73	TM2D2_HUMAN	TM2 domain containing 2	118						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			GCACTGGACTGAAGTGTGTTC	0.448																																						ENST00000412303.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(223-225)tCa>tTa		TM2 domain containing 2							87.0	76.0	80.0					8																	38851142		2203	4300	6503	SO:0001583	missense	83877					integral to membrane		g.chr8:38851142G>A	AF353991	CCDS6111.1, CCDS43733.1	8p11.23	2005-08-09				ENSG00000169490			24127	protein-coding gene	gene with protein product		610081				11278849	Standard	XM_005273657		Approved	BLP1	uc003xmk.3	Q9BX73		ENST00000456397.2:c.353C>T	8.37:g.38851142G>A	ENSP00000416050:p.Ser118Leu					TM2D2_ENST00000456845.2_Missense_Mutation_p.S75L|TM2D2_ENST00000397070.2_Missense_Mutation_p.S75L|TM2D2_ENST00000522434.1_5'UTR|TM2D2_ENST00000456397.2_Missense_Mutation_p.S118L	p.S75L	NM_001024380.1|NM_001024381.1|NM_031940.3	NP_001019551.1|NP_001019552.1|NP_114146.3	Q9BX73	TM2D2_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.5e-07)		3	618	-		all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153)	118					B2RBK4|D3DSX8|Q8N0X9	Missense_Mutation	SNP	ENST00000456397.2	37	c.224C>T	CCDS6111.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.777545	0.31411	.	.	ENSG00000169490	ENST00000456845;ENST00000456397;ENST00000412303;ENST00000397070;ENST00000522142	.	.	.	5.69	1.85	0.25348	.	1.022330	0.07735	N	0.945882	T	0.31918	0.0812	L	0.50333	1.59	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.31586	-0.9938	9	0.28530	T	0.3	4.7872	0.8835	0.01239	0.2026:0.2318:0.3274:0.2382	.	75;118	Q9BX73-2;Q9BX73	.;TM2D2_HUMAN	L	75;118;75;75;75	.	ENSP00000380260:S75L	S	-	2	0	TM2D2	38970299	0.000000	0.05858	0.000000	0.03702	0.970000	0.65996	0.466000	0.22019	0.123000	0.18342	-0.136000	0.14681	TCA		0.448	TM2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377280.1	NM_031940		26	56	0	0	0	1	0	26	56				
GRIK5	2901	broad.mit.edu	37	19	42510807	42510807	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:42510807G>T	ENST00000262895.3	-	15	2026	c.2027C>A	c.(2026-2028)aCc>aAc	p.T676N	GRIK5_ENST00000593562.1_Missense_Mutation_p.T676N|GRIK5_ENST00000301218.4_Missense_Mutation_p.T676N	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	676					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				CTGGAAGAAGGTCATGGTGGA	0.622																																						ENST00000262895.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35						c.(2026-2028)aCc>aAc		glutamate receptor, ionotropic, kainate 5	L-Glutamic Acid(DB00142)						70.0	61.0	64.0					19																	42510807		2203	4300	6503	SO:0001583	missense	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42510807G>T		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.2027C>A	19.37:g.42510807G>T	ENSP00000262895:p.Thr676Asn					GRIK5_ENST00000593562.1_Missense_Mutation_p.T676N|GRIK5_ENST00000301218.4_Missense_Mutation_p.T676N	p.T676N	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN			15	2026	-		Prostate(69;0.059)	676					Q8WWG8	Missense_Mutation	SNP	ENST00000262895.3	37	c.2027C>A	CCDS12595.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.7|25.7	4.663328|4.663328	0.88251|0.88251	.|.	.|.	ENSG00000105737|ENSG00000105737	ENST00000454993|ENST00000262895;ENST00000301218	.|T;T	.|0.11821	.|2.74;2.74	4.97|4.97	4.97|4.97	0.65823|0.65823	.|Ionotropic glutamate receptor (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.29389|0.29389	0.0732|0.0732	L|L	0.38531|0.38531	1.155|1.155	0.58432|0.58432	D|D	0.999996|0.999996	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.02553|0.02553	-1.1142|-1.1142	5|10	.|0.72032	.|D	.|0.01	.|.	17.002|17.002	0.86383|0.86383	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|676	.|Q16478	.|GRIK5_HUMAN	E|N	52|676	.|ENSP00000262895:T676N;ENSP00000301218:T676N	.|ENSP00000262895:T676N	D|T	-|-	3|2	2|0	GRIK5|GRIK5	47202647|47202647	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.852000|9.852000	0.99516|0.99516	2.308000|2.308000	0.77769|0.77769	0.563000|0.563000	0.77884|0.77884	GAC|ACC		0.622	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			7	28	1	0	2.74318e-10	1	2.82811e-10	7	28				
OTC	5009	broad.mit.edu	37	X	38262913	38262913	+	Missense_Mutation	SNP	G	G	A	rs67294956|rs67294955		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:38262913G>A	ENST00000039007.4	+	6	735	c.583G>A	c.(583-585)Ggg>Agg	p.G195R	TM4SF2_ENST00000465127.1_Intron|OTC_ENST00000488812.1_3'UTR	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	195			G -> R (in OTCD; no activity). {ECO:0000269|PubMed:7951259}.		ammonia homeostasis (GO:0097272)|arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|liver development (GO:0001889)|midgut development (GO:0007494)|ornithine catabolic process (GO:0006593)|protein homotrimerization (GO:0070207)|response to biotin (GO:0070781)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|ornithine carbamoyltransferase activity (GO:0004585)|phosphate ion binding (GO:0042301)|phospholipid binding (GO:0005543)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	CAGCTGGATCGGGGATGGGAA	0.478																																						ENST00000039007.4																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	GRCh37	CM065355|CM941121	OTC	M	rs67294955	c.(583-585)Ggg>Agg		ornithine carbamoyltransferase	L-Citrulline(DB00155)|L-Ornithine(DB00129)						109.0	85.0	93.0					X																	38262913		2202	4300	6502	SO:0001583	missense	5009				arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity	g.chrX:38262913G>A	K02100	CCDS14247.1	Xp21.1	2014-06-28			ENSG00000036473	ENSG00000036473	2.1.3.3		8512	protein-coding gene	gene with protein product		300461					Standard	NM_000531		Approved		uc004def.4	P00480	OTTHUMG00000022727	ENST00000039007.4:c.583G>A	X.37:g.38262913G>A	ENSP00000039007:p.Gly195Arg					OTC_ENST00000488812.1_3'UTR|TM4SF2_ENST00000465127.1_Intron	p.G195R	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN			6	735	+			195		G -> R (in OTCD; no activity).			A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	Missense_Mutation	SNP	ENST00000039007.4	37	c.583G>A	CCDS14247.1	.	.	.	.	.	.	.	.	.	.	g	34	5.380703	0.95945	.	.	ENSG00000036473	ENST00000039007	D	0.99872	-7.36	5.91	5.91	0.95273	Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99914	0.9959	H	0.96111	3.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96328	0.9241	10	0.72032	D	0.01	-10.2364	19.2113	0.93757	0.0:0.0:1.0:0.0	.	195	P00480	OTC_HUMAN	R	195	ENSP00000039007:G195R	ENSP00000039007:G195R	G	+	1	0	OTC	38147857	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	9.417000	0.97391	2.488000	0.83962	0.594000	0.82650	GGG		0.478	OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059006.2			43	91	0	0	0	1	0	43	91				
UHRF2	115426	broad.mit.edu	37	9	6506129	6506129	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:6506129C>G	ENST00000276893.5	+	16	2527	c.2359C>G	c.(2359-2361)Ctg>Gtg	p.L787V	UHRF2_ENST00000485617.2_3'UTR	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	787					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		CAATGAGATTCTGCAGACTCT	0.468																																						ENST00000276893.5																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17						c.(2359-2361)Ctg>Gtg		ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase							167.0	140.0	149.0					9																	6506129		2203	4300	6503	SO:0001583	missense	115426				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:6506129C>G	AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	12557	protein-coding gene	gene with protein product	"""Np95-like ring finger protein"""	615211	"""ubiquitin-like with PHD and ring finger domains 2"""			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.2359C>G	9.37:g.6506129C>G	ENSP00000276893:p.Leu787Val					UHRF2_ENST00000485617.2_3'UTR	p.L787V	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)	16	2527	+		Acute lymphoblastic leukemia(23;0.158)	787					Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Missense_Mutation	SNP	ENST00000276893.5	37	c.2359C>G	CCDS6469.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974804	0.74360	.	.	ENSG00000147854	ENST00000276893	D	0.89123	-2.47	5.91	5.91	0.95273	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.94404	0.8200	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94493	0.7703	10	0.72032	D	0.01	-6.4996	13.4901	0.61390	0.0:0.9289:0.0:0.0711	.	787	Q96PU4	UHRF2_HUMAN	V	787	ENSP00000276893:L787V	ENSP00000276893:L787V	L	+	1	2	UHRF2	6496129	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.046000	0.71029	2.802000	0.96397	0.655000	0.94253	CTG		0.468	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051665.3	NM_152306		43	117	0	0	0	1	0	43	117				
NLGN2	57555	broad.mit.edu	37	17	7320306	7320306	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr17:7320306G>A	ENST00000302926.2	+	7	1769	c.1696G>A	c.(1696-1698)Gag>Aag	p.E566K	NLGN2_ENST00000575301.1_Missense_Mutation_p.E566K	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	566					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CAATCGCTTCGAGGAGGTGGT	0.597																																						ENST00000302926.2																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22						c.(1696-1698)Gag>Aag		neuroligin 2							78.0	69.0	72.0					17																	7320306		2203	4300	6503	SO:0001583	missense	57555				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity	g.chr17:7320306G>A	AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.1696G>A	17.37:g.7320306G>A	ENSP00000305288:p.Glu566Lys					NLGN2_ENST00000575301.1_Missense_Mutation_p.E566K	p.E566K	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN			7	1769	+		Prostate(122;0.157)	566					Q9P2I1	Missense_Mutation	SNP	ENST00000302926.2	37	c.1696G>A	CCDS11103.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400783	0.83120	.	.	ENSG00000169992	ENST00000302926	T	0.67698	-0.28	4.69	4.69	0.59074	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	T	0.56247	0.1972	L	0.55103	1.725	0.80722	D	1	P	0.45044	0.849	B	0.29353	0.101	T	0.65825	-0.6074	10	0.52906	T	0.07	.	15.4807	0.75524	0.0:0.0:1.0:0.0	.	566	Q8NFZ4	NLGN2_HUMAN	K	566	ENSP00000305288:E566K	ENSP00000305288:E566K	E	+	1	0	NLGN2	7261030	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	9.648000	0.98483	2.587000	0.87381	0.561000	0.74099	GAG		0.597	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226941.2	NM_020795		24	21	0	0	0	1	0	24	21				
SFRP4	6424	broad.mit.edu	37	7	37955895	37955895	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:37955895G>A	ENST00000436072.2	-	1	622	c.245C>T	c.(244-246)gCg>gTg	p.A82V	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	82	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GCAAATGGGCGCGTACATGGC	0.622																																						ENST00000436072.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(244-246)gCg>gTg		secreted frizzled-related protein 4							115.0	93.0	100.0					7																	37955895		2203	4300	6503	SO:0001583	missense	6424				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:37955895G>A	AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.245C>T	7.37:g.37955895G>A	ENSP00000410715:p.Ala82Val					EPDR1_ENST00000476620.1_Intron	p.A82V	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN			1	622	-			82			FZ.		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Missense_Mutation	SNP	ENST00000436072.2	37	c.245C>T	CCDS5453.1	.	.	.	.	.	.	.	.	.	.	G	32	5.171083	0.94807	.	.	ENSG00000106483	ENST00000436072;ENST00000446575	T	0.75821	-0.97	4.36	4.36	0.52297	Frizzled domain (5);	0.000000	0.85682	D	0.000000	T	0.73892	0.3645	L	0.43598	1.365	0.58432	D	0.999995	D	0.69078	0.997	P	0.49829	0.623	T	0.77313	-0.2634	10	0.54805	T	0.06	.	15.8069	0.78520	0.0:0.0:1.0:0.0	.	82	Q6FHJ7	SFRP4_HUMAN	V	82;79	ENSP00000410715:A82V	ENSP00000410715:A82V	A	-	2	0	SFRP4	37922420	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.586000	0.82596	2.251000	0.74343	0.650000	0.86243	GCG		0.622	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014		59	34	0	0	0	1	0	59	34				
GNL1	2794	broad.mit.edu	37	6	30523396	30523396	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr6:30523396G>A	ENST00000376621.3	-	2	1145	c.175C>T	c.(175-177)Cat>Tat	p.H59Y	PRR3_ENST00000376557.3_5'Flank|PRR3_ENST00000376560.3_5'Flank	NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	59					cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CTGCGGATATGATGGGTCACA	0.657																																						ENST00000376621.3																			0				cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						c.(175-177)Cat>Tat		guanine nucleotide binding protein-like 1							91.0	85.0	87.0					6																	30523396		2203	4300	6503	SO:0001583	missense	2794				response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity	g.chr6:30523396G>A		CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.175C>T	6.37:g.30523396G>A	ENSP00000365806:p.His59Tyr						p.H59Y	NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN			2	1145	-			59					B0S838|Q96CT5	Missense_Mutation	SNP	ENST00000376621.3	37	c.175C>T	CCDS4680.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.714809	0.48622	.	.	ENSG00000204590	ENST00000376621;ENST00000433809	T	0.42900	0.96	5.08	5.08	0.68730	.	0.303483	0.35646	N	0.003072	T	0.12944	0.0314	N	0.08118	0	0.37607	D	0.920777	B;B	0.28291	0.022;0.206	B;B	0.17979	0.003;0.02	T	0.05666	-1.0871	10	0.44086	T	0.13	-7.6143	15.7365	0.77849	0.0:0.0:1.0:0.0	.	57;59	B4DYK6;P36915	.;GNL1_HUMAN	Y	59;57	ENSP00000365806:H59Y	ENSP00000365806:H59Y	H	-	1	0	GNL1	30631375	1.000000	0.71417	0.980000	0.43619	0.995000	0.86356	4.309000	0.59135	2.534000	0.85438	0.561000	0.74099	CAT		0.657	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2			46	96	0	0	0	1	0	46	96				
CPVL	54504	broad.mit.edu	37	7	29132252	29132252	+	Silent	SNP	G	G	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:29132252G>T	ENST00000409850.1	-	10	1175	c.529C>A	c.(529-531)Cgg>Agg	p.R177R	CPVL_ENST00000265394.5_Silent_p.R177R|CPVL_ENST00000396276.3_Silent_p.R177R			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	177						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TATAAATCCCGTGCTACATCG	0.398																																						ENST00000409850.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						c.(529-531)Cgg>Agg		carboxypeptidase, vitellogenic-like							86.0	73.0	77.0					7																	29132252		2203	4300	6503	SO:0001819	synonymous_variant	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29132252G>T	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.529C>A	7.37:g.29132252G>T						CPVL_ENST00000396276.3_Silent_p.R177R|CPVL_ENST00000265394.5_Silent_p.R177R	p.R177R			Q9H3G5	CPVL_HUMAN			10	1175	-			177					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Silent	SNP	ENST00000409850.1	37	c.529C>A	CCDS5419.1																																																																																				0.398	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		62	14	1	0	2.54232e-27	1	2.70476e-27	62	14				
NCSTN	23385	broad.mit.edu	37	1	160327005	160327005	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:160327005C>T	ENST00000294785.5	+	16	2094	c.1969C>T	c.(1969-1971)Cgt>Tgt	p.R657C	NCSTN_ENST00000535857.1_Missense_Mutation_p.R519C|NCSTN_ENST00000392212.4_Missense_Mutation_p.R637C|NCSTN_ENST00000368063.1_Missense_Mutation_p.R637C|NCSTN_ENST00000368065.4_Missense_Mutation_p.R399C	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	657				R -> H (in Ref. 6; AAH47621). {ECO:0000305}.	amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAAAGATATCCGTGCCCGGAT	0.512																																						ENST00000368063.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34						c.(1909-1911)Cgt>Tgt		nicastrin							59.0	56.0	57.0					1																	160327005		2203	4300	6503	SO:0001583	missense	23385				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding	g.chr1:160327005C>T	AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.1969C>T	1.37:g.160327005C>T	ENSP00000294785:p.Arg657Cys					NCSTN_ENST00000535857.1_Missense_Mutation_p.R519C|NCSTN_ENST00000368065.4_Missense_Mutation_p.R399C|NCSTN_ENST00000294785.5_Missense_Mutation_p.R657C|NCSTN_ENST00000392212.4_Missense_Mutation_p.R637C	p.R637C			Q92542	NICA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		17	2189	+	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		657					Q5T207|Q5T208|Q86VV5	Missense_Mutation	SNP	ENST00000294785.5	37	c.1909C>T	CCDS1203.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598495	0.66332	.	.	ENSG00000162736	ENST00000294785;ENST00000368063;ENST00000535857;ENST00000392212;ENST00000368065	T;T;T;T	0.77877	-1.13;-1.13;-0.13;-1.13	5.25	4.33	0.51752	.	0.423094	0.25994	N	0.026985	T	0.78910	0.4358	L	0.60455	1.87	0.47341	D	0.999397	D;D;D	0.89917	1.0;0.99;0.993	D;P;P	0.63113	0.911;0.631;0.53	T	0.81258	-0.1014	10	0.62326	D	0.03	-3.8074	11.9326	0.52855	0.3157:0.6843:0.0:0.0	.	519;637;657	F6Y097;Q92542-2;Q92542	.;.;NICA_HUMAN	C	657;637;519;637;399	ENSP00000294785:R657C;ENSP00000357042:R637C;ENSP00000442605:R519C;ENSP00000376047:R637C	ENSP00000294785:R657C	R	+	1	0	NCSTN	158593629	0.987000	0.35691	0.989000	0.46669	0.982000	0.71751	1.564000	0.36375	1.190000	0.43042	0.637000	0.83480	CGT		0.512	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1	NM_015331		19	43	0	0	0	1	0	19	43				
EFTUD2	9343	broad.mit.edu	37	17	42934459	42934459	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr17:42934459C>T	ENST00000426333.2	-	20	2326	c.2029G>A	c.(2029-2031)Gaa>Aaa	p.E677K	EFTUD2_ENST00000592576.1_Missense_Mutation_p.E667K|EFTUD2_ENST00000591382.1_Missense_Mutation_p.E677K|EFTUD2_ENST00000402521.3_Missense_Mutation_p.E642K	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	677					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TTAGGCGTTTCAGCAAAGCAC	0.507																																					Ovarian(10;65 485 10258 29980 30707)	ENST00000426333.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(2029-2031)Gaa>Aaa		elongation factor Tu GTP binding domain containing 2							85.0	78.0	80.0					17																	42934459		2203	4300	6503	SO:0001583	missense	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42934459C>T	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.2029G>A	17.37:g.42934459C>T	ENSP00000392094:p.Glu677Lys					EFTUD2_ENST00000592576.1_Missense_Mutation_p.E667K|EFTUD2_ENST00000591382.1_Missense_Mutation_p.E677K|EFTUD2_ENST00000402521.3_Missense_Mutation_p.E642K	p.E677K	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN			20	2326	-		Prostate(33;0.109)	677					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	c.2029G>A	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844092	0.71488	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.25579	1.79;1.79	5.6	5.6	0.85130	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.34048	0.0884	N	0.26042	0.785	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.66602	0.945;0.945	T	0.02109	-1.1212	10	0.05620	T	0.96	-1.782	19.6185	0.95645	0.0:1.0:0.0:0.0	.	667;677	B4DMC0;Q15029	.;U5S1_HUMAN	K	677;667;642	ENSP00000392094:E677K;ENSP00000385873:E642K	ENSP00000262414:E667K	E	-	1	0	EFTUD2	40289985	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	7.818000	0.86416	2.641000	0.89580	0.462000	0.41574	GAA		0.507	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		33	46	0	0	0	1	0	33	46				
CYP46A1	10858	broad.mit.edu	37	14	100192929	100192929	+	Silent	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr14:100192929G>A	ENST00000261835.3	+	15	1472	c.1368G>A	c.(1366-1368)caG>caA	p.Q456Q	CYP46A1_ENST00000554176.1_Silent_p.Q293Q|CYP46A1_ENST00000423126.2_Silent_p.Q359Q	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	456					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				AGCTGCTGCAGAGGCTGGAGT	0.627																																						ENST00000554176.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25						c.(877-879)caG>caA		cytochrome P450, family 46, subfamily A, polypeptide 1							19.0	17.0	18.0					14																	100192929		2199	4298	6497	SO:0001819	synonymous_variant	10858				bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	g.chr14:100192929G>A	AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"""Cytochrome P450s"""	2641	protein-coding gene	gene with protein product		604087	"""cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"""	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.1368G>A	14.37:g.100192929G>A						CYP46A1_ENST00000261835.3_Silent_p.Q456Q|CYP46A1_ENST00000423126.2_Silent_p.Q359Q	p.Q293Q			Q9Y6A2	CP46A_HUMAN			10	1545	+		Melanoma(154;0.0866)|all_epithelial(191;0.179)	456					B4DHP8|E7EQG9|Q8N2B0	Silent	SNP	ENST00000261835.3	37	c.879G>A	CCDS9954.1	.	.	.	.	.	.	.	.	.	.	G	8.069	0.769744	0.15983	.	.	ENSG00000036530	ENST00000380228	.	.	.	3.85	2.95	0.34219	.	.	.	.	.	T	0.56366	0.1980	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50180	-0.8858	4	.	.	.	.	7.77	0.29001	0.1231:0.0:0.8769:0.0	.	.	.	.	K	443	.	.	E	+	1	0	CYP46A1	99262682	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.418000	0.52721	0.730000	0.32425	0.462000	0.41574	GAG		0.627	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1			3	1	0	0	0	1	0	3	1				
KIF4A	24137	broad.mit.edu	37	X	69595998	69595998	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:69595998G>A	ENST00000374403.3	+	18	2054	c.1972G>A	c.(1972-1974)Gct>Act	p.A658T	KIF4A_ENST00000374388.3_Missense_Mutation_p.A658T	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	658					anterograde axon cargo transport (GO:0008089)|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)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						GAAAGAAGATGCTGAGAAGTT	0.338																																						ENST00000374403.3																			0				breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1972-1974)Gct>Act		kinesin family member 4A							78.0	73.0	75.0					X																	69595998		2203	4300	6503	SO:0001583	missense	24137				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chrX:69595998G>A	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.1972G>A	X.37:g.69595998G>A	ENSP00000363524:p.Ala658Thr					KIF4A_ENST00000374388.3_Missense_Mutation_p.A658T	p.A658T	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN			18	2054	+			658					B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	c.1972G>A	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083802	0.76642	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.16897	2.31;2.31	4.79	4.79	0.61399	.	0.000000	0.56097	D	0.000034	T	0.28001	0.0690	M	0.64997	1.995	0.50813	D	0.999893	D;B	0.55800	0.973;0.415	P;B	0.54346	0.749;0.295	T	0.01541	-1.1329	10	0.22109	T	0.4	.	11.782	0.52020	0.0909:0.0:0.9091:0.0	.	658;658	O95239;O95239-2	KIF4A_HUMAN;.	T	658	ENSP00000363509:A658T;ENSP00000363524:A658T	ENSP00000363509:A658T	A	+	1	0	KIF4A	69512723	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.204000	0.58460	2.347000	0.79759	0.594000	0.82650	GCT		0.338	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		21	58	0	0	0	1	0	21	58				
NOC4L	79050	broad.mit.edu	37	12	132636125	132636125	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:132636125C>T	ENST00000330579.1	+	12	1211	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	NOC4L_ENST00000535343.1_3'UTR|NOC4L_ENST00000538784.1_Silent_p.F5F	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	390					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		TCCTGCCTTTCATCTGTAACC	0.721																																						ENST00000330579.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14						c.(1168-1170)ttC>ttT		nucleolar complex associated 4 homolog (S. cerevisiae)							19.0	21.0	20.0					12																	132636125		2183	4276	6459	SO:0001819	synonymous_variant	79050				rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr12:132636125C>T		CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967			28461	protein-coding gene	gene with protein product		612819				12446671	Standard	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.1170C>T	12.37:g.132636125C>T						NOC4L_ENST00000538784.1_Silent_p.F5F|NOC4L_ENST00000535343.1_3'UTR	p.F390F	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)	12	1211	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		390					Q8N2S5|Q96I14	Silent	SNP	ENST00000330579.1	37	c.1170C>T	CCDS9277.1																																																																																				0.721	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398999.1	NM_024078		12	8	0	0	0	1	0	12	8				
ZBED8	63920	broad.mit.edu	37	5	159820802	159820802	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:159820802C>T	ENST00000408953.3	-	2	2203	c.1696G>A	c.(1696-1698)Gat>Aat	p.D566N	C5orf54_ENST00000523213.1_Missense_Mutation_p.D566N	NM_022090.3	NP_071373.2														breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						cggatatcatcactcagatta	0.373																																						ENST00000408953.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(1696-1698)Gat>Aat		chromosome 5 open reading frame 54							38.0	35.0	36.0					5																	159820802		2200	4292	6492	SO:0001583	missense	63920							g.chr5:159820802C>T																												ENST00000408953.3:c.1696G>A	5.37:g.159820802C>T	ENSP00000386184:p.Asp566Asn					C5orf54_ENST00000523213.1_Missense_Mutation_p.D566N	p.D566N	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN			2	2203	-			566						Missense_Mutation	SNP	ENST00000408953.3	37	c.1696G>A	CCDS34283.1	.	.	.	.	.	.	.	.	.	.	C	8.934	0.964219	0.18583	.	.	ENSG00000221886	ENST00000408953;ENST00000523213	T;T	0.14266	2.52;2.52	2.82	1.95	0.26073	.	.	.	.	.	T	0.07458	0.0188	N	0.20685	0.6	0.27592	N	0.94923	B	0.11235	0.004	B	0.11329	0.006	T	0.39901	-0.9591	9	0.16420	T	0.52	.	5.7256	0.18010	0.0:0.8503:0.0:0.1497	.	566	Q8IZ13	CE054_HUMAN	N	566	ENSP00000386184:D566N;ENSP00000428831:D566N	ENSP00000386184:D566N	D	-	1	0	C5orf54	159753380	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.027000	0.30115	0.767000	0.33267	-0.136000	0.14681	GAT		0.373	C5orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374143.1			10	6	0	0	0	1	0	10	6				
CLIP4	79745	broad.mit.edu	37	2	29356671	29356671	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr2:29356671C>T	ENST00000320081.5	+	5	773	c.518C>T	c.(517-519)tCg>tTg	p.S173L	CLIP4_ENST00000404424.1_Missense_Mutation_p.S173L|CLIP4_ENST00000401617.2_Missense_Mutation_p.S66L|CLIP4_ENST00000401605.1_Missense_Mutation_p.S173L	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	173										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TTGAAAACATCGAAACCAAAA	0.333																																						ENST00000320081.5																			0				endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26						c.(517-519)tCg>tTg		CAP-GLY domain containing linker protein family, member 4							99.0	95.0	96.0					2																	29356671		2203	4300	6503	SO:0001583	missense	79745							g.chr2:29356671C>T	AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"""Ankyrin repeat domain containing"""	26108	protein-coding gene	gene with protein product			"""restin-like 2"""	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.518C>T	2.37:g.29356671C>T	ENSP00000327009:p.Ser173Leu					CLIP4_ENST00000401605.1_Missense_Mutation_p.S173L|CLIP4_ENST00000401617.2_Missense_Mutation_p.S66L|CLIP4_ENST00000404424.1_Missense_Mutation_p.S173L	p.S173L	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN			5	773	+	Acute lymphoblastic leukemia(172;0.155)		173					A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Missense_Mutation	SNP	ENST00000320081.5	37	c.518C>T	CCDS1770.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568977	0.65765	.	.	ENSG00000115295	ENST00000401605;ENST00000401617;ENST00000404424;ENST00000402240;ENST00000320081;ENST00000379543;ENST00000449202;ENST00000438819;ENST00000530644	T;T;T;T;T;T	0.73258	0.47;-0.73;0.47;0.47;0.45;-0.12	5.31	5.31	0.75309	Ankyrin repeat-containing domain (4);	0.201444	0.44902	D	0.000409	T	0.63450	0.2512	L	0.38838	1.175	0.58432	D	0.999998	B;B	0.32753	0.383;0.383	B;B	0.27170	0.071;0.077	T	0.66716	-0.5853	10	0.87932	D	0	.	18.9585	0.92670	0.0:1.0:0.0:0.0	.	173;173	A8K6D0;Q8N3C7	.;CLIP4_HUMAN	L	173;66;173;173;173;174;173;66;155	ENSP00000384242:S173L;ENSP00000385148:S66L;ENSP00000385594:S173L;ENSP00000327009:S173L;ENSP00000393354:S173L;ENSP00000392296:S66L	ENSP00000327009:S173L	S	+	2	0	CLIP4	29210175	1.000000	0.71417	0.973000	0.42090	0.783000	0.44284	7.719000	0.84751	2.474000	0.83562	0.561000	0.74099	TCG		0.333	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692		27	54	0	0	0	1	0	27	54				
RASEF	158158	broad.mit.edu	37	9	85627423	85627423	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:85627423C>T	ENST00000376447.3	-	5	1029	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	257					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						GATTGTTCTTCGAGCTGAAAG	0.323																																						ENST00000376447.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(769-771)Gaa>Aaa		RAS and EF-hand domain containing							111.0	92.0	99.0					9																	85627423		2200	4298	6498	SO:0001583	missense	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85627423C>T	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"""EF-hand domain containing"", ""RAB, member RAS oncogene"""	26464	protein-coding gene	gene with protein product		611344	"""RAB45, member RAS oncogene family"""	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.769G>A	9.37:g.85627423C>T	ENSP00000365630:p.Glu257Lys						p.E257K	NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN			5	1029	-			257					A6NC29|Q96N04	Missense_Mutation	SNP	ENST00000376447.3	37	c.769G>A	CCDS6662.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134942	0.77662	.	.	ENSG00000165105	ENST00000376447	T	0.68025	-0.3	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.68467	0.3004	M	0.72894	2.215	0.80722	D	1	D	0.60160	0.987	B	0.42882	0.401	T	0.73487	-0.3967	10	0.48119	T	0.1	.	17.9314	0.88998	0.0:1.0:0.0:0.0	.	257	Q8IZ41	RASEF_HUMAN	K	257	ENSP00000365630:E257K	ENSP00000365630:E257K	E	-	1	0	RASEF	84817243	0.999000	0.42202	1.000000	0.80357	0.918000	0.54935	4.908000	0.63307	2.589000	0.87451	0.650000	0.86243	GAA		0.323	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573		11	28	0	0	0	1	0	11	28				
STRBP	55342	broad.mit.edu	37	9	125921433	125921433	+	Silent	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:125921433G>A	ENST00000348403.5	-	9	1206	c.777C>T	c.(775-777)ggC>ggT	p.G259G	STRBP_ENST00000360998.3_Silent_p.G245G|STRBP_ENST00000447404.2_Silent_p.G259G	NM_018387.4	NP_060857.2	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	259	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						CCTCCCCAGCGCCCAAAGGTC	0.393																																						ENST00000447404.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						c.(775-777)ggC>ggT		spermatid perinuclear RNA binding protein							90.0	91.0	91.0					9																	125921433		2203	4300	6503	SO:0001819	synonymous_variant	55342				multicellular organismal development	cytoplasm|nucleus	DNA binding	g.chr9:125921433G>A	AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"""spermatid perinuclear RNA-binding protein"", ""interleukin enhancer binding factor 3-like"""	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000348403.5:c.777C>T	9.37:g.125921433G>A						STRBP_ENST00000360998.3_Silent_p.G245G|STRBP_ENST00000348403.5_Silent_p.G259G	p.G259G			Q96SI9	STRBP_HUMAN			8	1081	-			259			DZF.		Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	Silent	SNP	ENST00000348403.5	37	c.777C>T	CCDS6851.1																																																																																				0.393	STRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053982.1			41	98	0	0	0	1	0	41	98				
EIF4G1	1981	broad.mit.edu	37	3	184043060	184043060	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:184043060C>T	ENST00000346169.2	+	19	3131	c.2860C>T	c.(2860-2862)Cga>Tga	p.R954*	EIF4G1_ENST00000427845.1_Nonsense_Mutation_p.R868*|EIF4G1_ENST00000441154.1_Nonsense_Mutation_p.R791*|EIF4G1_ENST00000392537.2_Nonsense_Mutation_p.R867*|EIF4G1_ENST00000342981.4_Nonsense_Mutation_p.R955*|EIF4G1_ENST00000319274.6_Nonsense_Mutation_p.R954*|EIF4G1_ENST00000382330.3_Nonsense_Mutation_p.R961*|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000434061.2_Nonsense_Mutation_p.R759*|EIF4G1_ENST00000414031.1_Nonsense_Mutation_p.R914*|EIF4G1_ENST00000350481.5_Nonsense_Mutation_p.R790*|EIF4G1_ENST00000435046.2_Nonsense_Mutation_p.R758*|EIF4G1_ENST00000352767.3_Nonsense_Mutation_p.R961*|EIF4G1_ENST00000424196.1_Nonsense_Mutation_p.R961*|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000411531.1_Nonsense_Mutation_p.R915*	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	954	eIF3/EIF4A-binding.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTCCTAGCCCCGAATGGATCA	0.522																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(2863-2865)Cga>Tga		eukaryotic translation initiation factor 4 gamma, 1							84.0	88.0	87.0					3																	184043060		2203	4300	6503	SO:0001587	stop_gained	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184043060C>T	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.2860C>T	3.37:g.184043060C>T	ENSP00000316879:p.Arg954*					EIF4G1_ENST00000392537.2_Nonsense_Mutation_p.R867*|EIF4G1_ENST00000319274.6_Nonsense_Mutation_p.R954*|EIF4G1_ENST00000411531.1_Nonsense_Mutation_p.R915*|EIF4G1_ENST00000427845.1_Nonsense_Mutation_p.R868*|EIF4G1_ENST00000382330.3_Nonsense_Mutation_p.R961*|EIF4G1_ENST00000352767.3_Nonsense_Mutation_p.R961*|EIF4G1_ENST00000434061.2_Nonsense_Mutation_p.R759*|EIF4G1_ENST00000424196.1_Nonsense_Mutation_p.R961*|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Nonsense_Mutation_p.R791*|EIF4G1_ENST00000346169.2_Nonsense_Mutation_p.R954*|EIF4G1_ENST00000350481.5_Nonsense_Mutation_p.R790*|EIF4G1_ENST00000414031.1_Nonsense_Mutation_p.R914*|EIF4G1_ENST00000435046.2_Nonsense_Mutation_p.R758*	p.R955*	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		18	3277	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		954			eIF3/EIF4A-binding.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Nonsense_Mutation	SNP	ENST00000346169.2	37	c.2863C>T	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	39	7.794669	0.98492	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	.	.	.	5.53	4.66	0.58398	.	0.056876	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1642	10.2172	0.43175	0.143:0.7844:0.0:0.0725	.	.	.	.	X	954;914;867;961;895;790;961;868;955;954;961;915;791;759;758	.	ENSP00000323737:R954X	R	+	1	2	EIF4G1	185525754	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.894000	0.63206	1.356000	0.45884	0.555000	0.69702	CGA		0.522	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		31	109	0	0	0	1	0	31	109				
PCNT	5116	broad.mit.edu	37	21	47836709	47836709	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr21:47836709G>A	ENST00000359568.5	+	30	6984	c.6877G>A	c.(6877-6879)Gag>Aag	p.E2293K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2293					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.E2293K(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GCAGTGGGCCGAGTCTCCGCC	0.692																																						ENST00000359568.5																			1	Substitution - Missense(1)	p.E2293K(1)	pancreas(1)	NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(6877-6879)Gag>Aag		pericentrin							21.0	23.0	22.0					21																	47836709		1927	3780	5707	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47836709G>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.6877G>A	21.37:g.47836709G>A	ENSP00000352572:p.Glu2293Lys					PCNT_ENST00000480896.1_3'UTR	p.E2293K	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			30	6984	+	Breast(49;0.112)		2293					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.6877G>A	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	9.104	1.004776	0.19199	.	.	ENSG00000160299	ENST00000359568	T	0.01474	4.85	4.79	2.97	0.34412	.	0.810312	0.10091	N	0.717212	T	0.01627	0.0052	L	0.44542	1.39	0.09310	N	1	B;B	0.26935	0.129;0.164	B;B	0.15484	0.01;0.013	T	0.46162	-0.9211	10	0.06891	T	0.86	.	6.5132	0.22234	0.2117:0.0:0.7883:0.0	.	2175;2293	O95613-2;O95613	.;PCNT_HUMAN	K	2293	ENSP00000352572:E2293K	ENSP00000352572:E2293K	E	+	1	0	PCNT	46661137	0.001000	0.12720	0.002000	0.10522	0.001000	0.01503	0.779000	0.26746	1.374000	0.46228	0.655000	0.94253	GAG		0.692	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		19	19	0	0	0	1	0	19	19				
MYO3A	53904	broad.mit.edu	37	10	26500926	26500926	+	3'UTR	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr10:26500926C>T	ENST00000265944.5	+	0	5051				MYO3A_ENST00000543632.1_Missense_Mutation_p.A644V	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA						ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CGTCGGAAGGCGCTGGAGCCT	0.687																																						ENST00000543632.1																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(1930-1932)gCg>gTg		myosin IIIA							17.0	20.0	19.0					10																	26500926		2199	4298	6497	SO:0001624	3_prime_UTR_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26500926C>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.*34C>T	10.37:g.26500926C>T						MYO3A_ENST00000265944.5_3'UTR	p.A644V			Q8NEV4	MYO3A_HUMAN			17	1991	+			0			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.1931C>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.315292	0.23908	.	.	ENSG00000095777	ENST00000543632	T	0.75367	-0.93	3.84	-3.59	0.04583	.	.	.	.	.	T	0.55210	0.1906	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45760	-0.9239	8	0.87932	D	0	.	1.0666	0.01612	0.16:0.3573:0.1598:0.3229	.	644	F5H0U9	.	V	644	ENSP00000445909:A644V	ENSP00000445909:A644V	A	+	2	0	MYO3A	26540932	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.319000	0.08039	-0.661000	0.05345	0.305000	0.20034	GCG		0.687	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		5	9	0	0	0	1	0	5	9				
MAGI3	260425	broad.mit.edu	37	1	114133210	114133210	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:114133210G>A	ENST00000307546.9	+	5	943	c.868G>A	c.(868-870)Gag>Aag	p.E290K	MAGI3_ENST00000369617.4_Missense_Mutation_p.E290K|MAGI3_ENST00000369611.4_Missense_Mutation_p.E290K|MAGI3_ENST00000369615.1_Missense_Mutation_p.E290K	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	290					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATGAGAGATGAGACTCTGGA	0.413																																						ENST00000369615.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(868-870)Gag>Aag		membrane associated guanylate kinase, WW and PDZ domain containing 3							108.0	103.0	105.0					1																	114133210		2203	4300	6503	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114133210G>A	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.868G>A	1.37:g.114133210G>A	ENSP00000304604:p.Glu290Lys					MAGI3_ENST00000369611.4_Missense_Mutation_p.E290K|MAGI3_ENST00000369617.4_Missense_Mutation_p.E290K|MAGI3_ENST00000307546.9_Missense_Mutation_p.E290K	p.E290K	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	930	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	290					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.868G>A	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601174	0.46423	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.16897	2.51;2.31;2.5;2.5	5.9	4.98	0.66077	.	0.142947	0.64402	N	0.000007	T	0.26304	0.0642	L	0.50333	1.59	0.58432	D	0.999997	D;D;D	0.76494	0.999;0.962;0.982	D;P;D	0.69142	0.962;0.578;0.918	T	0.04565	-1.0942	10	0.87932	D	0	-25.2013	16.4414	0.83901	0.0:0.0:0.8675:0.1325	.	290;290;290	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	K	290	ENSP00000358630:E290K;ENSP00000304604:E290K;ENSP00000358628:E290K;ENSP00000358624:E290K	ENSP00000304604:E290K	E	+	1	0	MAGI3	113934733	1.000000	0.71417	0.970000	0.41538	0.013000	0.08279	9.434000	0.97515	1.476000	0.48215	-0.182000	0.12963	GAG		0.413	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		23	112	0	0	0	1	0	23	112				
ASB6	140459	broad.mit.edu	37	9	132401583	132401583	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:132401583C>T	ENST00000277458.4	-	4	574	c.409G>A	c.(409-411)Gag>Aag	p.E137K	RP11-483H20.4_ENST00000455074.1_RNA|ASB6_ENST00000450050.2_Missense_Mutation_p.E58K|ASB6_ENST00000277459.4_Intron	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	137					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)		p.E137K(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				GGGCTACTCTCGTGGATCTGA	0.632																																						ENST00000277458.4																			1	Substitution - Missense(1)	p.E137K(1)	NS(1)	NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15						c.(409-411)Gag>Aag		ankyrin repeat and SOCS box containing 6							65.0	61.0	62.0					9																	132401583		2203	4300	6503	SO:0001583	missense	140459				intracellular signal transduction	cytoplasm		g.chr9:132401583C>T		CCDS6924.1, CCDS6925.1, CCDS75919.1	9q34.13	2013-01-10	2011-01-25		ENSG00000148331	ENSG00000148331		"""Ankyrin repeat domain containing"""	17181	protein-coding gene	gene with protein product		615051	"""ankyrin repeat and SOCS box-containing 6"""				Standard	NM_017873		Approved		uc004byf.2	Q9NWX5	OTTHUMG00000020787	ENST00000277458.4:c.409G>A	9.37:g.132401583C>T	ENSP00000277458:p.Glu137Lys					ASB6_ENST00000450050.2_Missense_Mutation_p.E58K|ASB6_ENST00000277459.4_Intron	p.E137K	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN			4	574	-		Ovarian(14;0.00556)	137					Q5SZB7|Q9BV15	Missense_Mutation	SNP	ENST00000277458.4	37	c.409G>A	CCDS6924.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795330	0.90453	.	.	ENSG00000148331	ENST00000277458;ENST00000450050	T;T	0.52295	0.67;0.67	5.3	5.3	0.74995	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.47488	0.1448	N	0.11789	0.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.31943	-0.9925	10	0.02654	T	1	-31.5443	17.942	0.89028	0.0:1.0:0.0:0.0	.	58;137;137	B4DRC4;A8K9U2;Q9NWX5	.;.;ASB6_HUMAN	K	137;58	ENSP00000277458:E137K;ENSP00000416172:E58K	ENSP00000277458:E137K	E	-	1	0	ASB6	131441404	1.000000	0.71417	0.994000	0.49952	0.922000	0.55478	7.437000	0.80417	2.464000	0.83262	0.561000	0.74099	GAG		0.632	ASB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054594.1	NM_017873		33	75	0	0	0	1	0	33	75				
PDZD2	23037	broad.mit.edu	37	5	32108096	32108096	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:32108096G>A	ENST00000438447.1	+	25	8763	c.8375G>A	c.(8374-8376)gGa>gAa	p.G2792E	PDZD2_ENST00000282493.3_Missense_Mutation_p.G2792E|PDZD2_ENST00000513490.1_3'UTR|CTD-2152M20.2_ENST00000503441.1_RNA			O15018	PDZD2_HUMAN	PDZ domain containing 2	2792	PDZ 6. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GAACAAGCTGGAATAATAGAA	0.373																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(8374-8376)gGa>gAa		PDZ domain containing 2							126.0	131.0	129.0					5																	32108096		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32108096G>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.8375G>A	5.37:g.32108096G>A	ENSP00000402033:p.Gly2792Glu					PDZD2_ENST00000282493.3_Missense_Mutation_p.G2792E|CTD-2152M20.2_ENST00000503441.1_RNA|PDZD2_ENST00000513490.1_3'UTR	p.G2792E			O15018	PDZD2_HUMAN			25	8763	+			2792			PDZ 6.		Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.8375G>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870494	0.91587	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.60672	0.17;0.17	5.88	5.88	0.94601	PDZ/DHR/GLGF (4);	0.115400	0.39341	N	0.001383	T	0.81192	0.4771	M	0.90483	3.12	0.47659	D	0.999485	D	0.89917	1.0	D	0.97110	1.0	D	0.83816	0.0244	10	0.62326	D	0.03	.	17.7218	0.88353	0.0:0.0:1.0:0.0	.	2792	O15018	PDZD2_HUMAN	E	2792;2593;2792	ENSP00000402033:G2792E;ENSP00000282493:G2792E	ENSP00000282493:G2792E	G	+	2	0	PDZD2	32143853	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	8.783000	0.91813	2.778000	0.95560	0.655000	0.94253	GGA		0.373	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			33	231	0	0	0	1	0	33	231				
C6	729	broad.mit.edu	37	5	41160316	41160316	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:41160316C>T	ENST00000263413.3	-	11	1876	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.E538K	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	538	EGF-like.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CACAGACATTCAGTCCCTGAG	0.473																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(1612-1614)Gaa>Aaa		complement component 6							179.0	167.0	171.0					5																	41160316		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41160316C>T	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1612G>A	5.37:g.41160316C>T	ENSP00000263413:p.Glu538Lys					C6_ENST00000337836.5_Missense_Mutation_p.E538K|C6_ENST00000475349.1_5'UTR	p.E538K	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			11	1876	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	538			EGF-like.			Missense_Mutation	SNP	ENST00000263413.3	37	c.1612G>A	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889291	0.91889	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.60797	0.16;0.16	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.70605	0.3243	L	0.48218	1.51	0.80722	D	1	D	0.71674	0.998	P	0.62813	0.907	T	0.67484	-0.5659	10	0.48119	T	0.1	-30.0136	20.6208	0.99490	0.0:1.0:0.0:0.0	.	538	P13671	CO6_HUMAN	K	538	ENSP00000338861:E538K;ENSP00000263413:E538K	ENSP00000263413:E538K	E	-	1	0	C6	41196073	0.974000	0.33945	0.787000	0.31911	0.331000	0.28603	2.459000	0.45023	2.882000	0.98803	0.655000	0.94253	GAA		0.473	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			45	382	0	0	0	1	0	45	382				
LMTK2	22853	broad.mit.edu	37	7	97820093	97820093	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:97820093C>T	ENST00000297293.5	+	10	1345	c.1052C>T	c.(1051-1053)tCa>tTa	p.S351L		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	351	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CAGCCGTATTCAAACCTTTCC	0.468																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(1051-1053)tCa>tTa		lemur tyrosine kinase 2							191.0	202.0	198.0					7																	97820093		2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97820093C>T	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1052C>T	7.37:g.97820093C>T	ENSP00000297293:p.Ser351Leu						p.S351L	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			10	1345	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		351			Protein kinase.		A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.1052C>T	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.484873	0.44147	.	.	ENSG00000164715	ENST00000297293	D	0.82984	-1.67	5.42	5.42	0.78866	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.444994	0.26804	N	0.022401	T	0.76392	0.3981	L	0.46157	1.445	0.26407	N	0.976322	P	0.37276	0.589	B	0.36766	0.232	T	0.66196	-0.5984	10	0.13853	T	0.58	.	13.5269	0.61601	0.1558:0.8442:0.0:0.0	.	351	Q8IWU2	LMTK2_HUMAN	L	351	ENSP00000297293:S351L	ENSP00000297293:S351L	S	+	2	0	LMTK2	97658029	0.174000	0.23070	0.252000	0.24328	0.874000	0.50279	2.699000	0.47077	2.711000	0.92665	0.655000	0.94253	TCA		0.468	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		223	170	0	0	0	1	0	223	170				
IBTK	25998	broad.mit.edu	37	6	82935280	82935280	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr6:82935280C>T	ENST00000306270.7	-	6	1288	c.739G>A	c.(739-741)Gat>Aat	p.D247N	IBTK_ENST00000503631.1_Missense_Mutation_p.D247N|IBTK_ENST00000510291.1_Missense_Mutation_p.D247N	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	247					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		ACACATCCATCTTCAGTTAAT	0.383																																						ENST00000306270.7																			0				central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(739-741)Gat>Aat		inhibitor of Bruton agammaglobulinemia tyrosine kinase							88.0	83.0	84.0					6																	82935280		2203	4300	6503	SO:0001583	missense	25998				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:82935280C>T	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.739G>A	6.37:g.82935280C>T	ENSP00000305721:p.Asp247Asn					IBTK_ENST00000503631.1_Missense_Mutation_p.D247N|IBTK_ENST00000510291.1_Missense_Mutation_p.D247N	p.D247N	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0901)	6	1288	-		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)	247					Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	ENST00000306270.7	37	c.739G>A	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	C	34	5.355262	0.95854	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	D;D;D	0.88509	-2.39;-2.39;-2.39	5.61	5.61	0.85477	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.216754	0.47852	D	0.000215	D	0.85788	0.5778	N	0.25647	0.755	0.58432	D	0.999997	P;P;P;P	0.46512	0.822;0.879;0.835;0.879	P;P;P;P	0.53760	0.506;0.688;0.576;0.734	D	0.84011	0.0348	10	0.27082	T	0.32	-20.5424	19.6441	0.95770	0.0:1.0:0.0:0.0	.	247;247;247;247	E9PDR5;E7EPI0;Q9P2D0-2;Q9P2D0	.;.;.;IBTK_HUMAN	N	247	ENSP00000305721:D247N;ENSP00000422762:D247N;ENSP00000426405:D247N	ENSP00000305721:D247N	D	-	1	0	IBTK	82991999	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.277000	0.78572	2.641000	0.89580	0.460000	0.39030	GAT		0.383	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525		23	74	0	0	0	1	0	23	74				
PCNXL4	64430	broad.mit.edu	37	14	60591509	60591509	+	Missense_Mutation	SNP	G	G	A	rs112427833	byFrequency	TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr14:60591509G>A	ENST00000406854.1	+	9	3174	c.2620G>A	c.(2620-2622)Gat>Aat	p.D874N	PCNXL4_ENST00000535349.1_Missense_Mutation_p.D81N|PCNXL4_ENST00000406949.1_Missense_Mutation_p.D640N|PCNXL4_ENST00000404681.2_Missense_Mutation_p.D874N|PCNXL4_ENST00000317623.4_Missense_Mutation_p.D640N			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	874						integral component of membrane (GO:0016021)											TCCTGAAAACGATCTTTACAA	0.398													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19383	0.0		0.0	False		,,,				2504	0.0					ENST00000406854.1																			0											c.(2620-2622)Gat>Aat		pecanex-like 4 (Drosophila)							120.0	129.0	126.0					14																	60591509		2202	4289	6491	SO:0001583	missense	64430							g.chr14:60591509G>A	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.2620G>A	14.37:g.60591509G>A	ENSP00000384801:p.Asp874Asn					PCNXL4_ENST00000406949.1_Missense_Mutation_p.D640N|PCNXL4_ENST00000317623.4_Missense_Mutation_p.D640N|PCNXL4_ENST00000404681.2_Missense_Mutation_p.D874N|PCNXL4_ENST00000535349.1_Missense_Mutation_p.D81N	p.D874N							9	3174	+								A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	ENST00000406854.1	37	c.2620G>A		4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	G	2.639	-0.284511	0.05605	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681;ENST00000535349	T;T;T;T;T	0.29655	1.95;1.95;1.95;1.95;1.56	5.13	-0.72	0.11195	.	0.758330	0.13706	N	0.368433	T	0.13372	0.0324	L	0.44542	1.39	0.09310	N	1	B;B	0.31837	0.271;0.342	B;B	0.20184	0.015;0.028	T	0.09530	-1.0670	10	0.41790	T	0.15	.	5.3761	0.16166	0.5785:0.1374:0.2841:0.0	.	874;640	Q63HM2;B5MC47	CN135_HUMAN;.	N	640;874;640;874;81	ENSP00000317396:D640N;ENSP00000384801:D874N;ENSP00000385201:D640N;ENSP00000385713:D874N;ENSP00000445644:D81N	ENSP00000317396:D640N	D	+	1	0	C14orf135	59661262	0.025000	0.19082	0.000000	0.03702	0.096000	0.18686	1.339000	0.33885	-0.057000	0.13199	-0.384000	0.06662	GAT		0.398	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		7	206	0	0	0	1	0	7	206				
TRPM6	140803	broad.mit.edu	37	9	77448916	77448916	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:77448916C>A	ENST00000360774.1	-	6	904	c.667G>T	c.(667-669)Gat>Tat	p.D223Y	TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000361255.3_Missense_Mutation_p.D218Y|TRPM6_ENST00000449912.2_Missense_Mutation_p.D218Y|TRPM6_ENST00000451710.3_Missense_Mutation_p.D223Y|TRPM6_ENST00000376871.3_Missense_Mutation_p.D223Y|TRPM6_ENST00000376864.4_Missense_Mutation_p.D223Y|TRPM6_ENST00000359047.2_Missense_Mutation_p.D223Y|TRPM6_ENST00000376872.3_Missense_Mutation_p.D223Y	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	223					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTACTTACATCTTTTCCAATA	0.408																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(667-669)Gat>Tat		transient receptor potential cation channel, subfamily M, member 6							193.0	174.0	180.0					9																	77448916		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77448916C>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.667G>T	9.37:g.77448916C>A	ENSP00000354006:p.Asp223Tyr					TRPM6_ENST00000361255.3_Missense_Mutation_p.D218Y|TRPM6_ENST00000359047.2_Missense_Mutation_p.D223Y|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000449912.2_Missense_Mutation_p.D218Y|TRPM6_ENST00000376864.4_Missense_Mutation_p.D223Y|TRPM6_ENST00000376871.3_Missense_Mutation_p.D223Y|TRPM6_ENST00000360774.1_Missense_Mutation_p.D223Y|TRPM6_ENST00000376872.3_Missense_Mutation_p.D223Y	p.D223Y			Q9BX84	TRPM6_HUMAN			6	904	-			223					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.667G>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457928	0.84317	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864;ENST00000359047	T;T;T;T;T;T;T;T	0.59772	0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.24	5.88	4.99	0.66335	.	0.041576	0.85682	D	0.000000	T	0.80757	0.4684	M	0.91354	3.2	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.85130	0.958;0.958;0.958;0.99;0.997;0.991	D	0.85526	0.1206	10	0.87932	D	0	.	14.8037	0.69935	0.0:0.9311:0.0:0.0689	.	223;223;223;223;223;218	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q96LV9;Q9BX84;Q9BX84-3	.;.;.;.;TRPM6_HUMAN;.	Y	223;223;223;223;218;218;222;223;223	ENSP00000354006:D223Y;ENSP00000407341:D223Y;ENSP00000366068:D223Y;ENSP00000366067:D223Y;ENSP00000396672:D218Y;ENSP00000354962:D218Y;ENSP00000366060:D223Y;ENSP00000351942:D223Y	ENSP00000351942:D223Y	D	-	1	0	TRPM6	76638736	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.890000	0.63178	1.501000	0.48654	0.591000	0.81541	GAT		0.408	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		71	54	1	0	1.02016e-41	1	1.09585e-41	71	54				
GIGYF2	26058	broad.mit.edu	37	2	233704679	233704679	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr2:233704679G>C	ENST00000409547.1	+	25	3198	c.2887G>C	c.(2887-2889)Gag>Cag	p.E963Q	GIGYF2_ENST00000452341.2_Missense_Mutation_p.E794Q|GIGYF2_ENST00000409451.3_Missense_Mutation_p.E984Q|GIGYF2_ENST00000373563.4_Missense_Mutation_p.E963Q|GIGYF2_ENST00000409196.3_Missense_Mutation_p.E957Q|GIGYF2_ENST00000373566.3_Missense_Mutation_p.E985Q|GIGYF2_ENST00000409480.1_Missense_Mutation_p.E985Q	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	963	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.E963Q(1)|p.E984Q(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GCTTCGAGAAGAGGTAAAATT	0.448																																						ENST00000373566.3																			2	Substitution - Missense(2)	p.E963Q(1)|p.E984Q(1)	endometrium(2)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(2953-2955)Gag>Cag		GRB10 interacting GYF protein 2							48.0	45.0	46.0					2																	233704679		2203	4300	6503	SO:0001583	missense	26058				cell death		protein binding	g.chr2:233704679G>C	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.2887G>C	2.37:g.233704679G>C	ENSP00000386537:p.Glu963Gln					GIGYF2_ENST00000409480.1_Missense_Mutation_p.E985Q|GIGYF2_ENST00000452341.2_Missense_Mutation_p.E794Q|GIGYF2_ENST00000409451.3_Missense_Mutation_p.E984Q|GIGYF2_ENST00000409196.3_Missense_Mutation_p.E957Q|GIGYF2_ENST00000409547.1_Missense_Mutation_p.E963Q|GIGYF2_ENST00000373563.4_Missense_Mutation_p.E963Q	p.E985Q			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	24	3150	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	963			Gln-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	c.2953G>C	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575087	0.65878	.	.	ENSG00000204120	ENST00000373566;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000409196;ENST00000409451;ENST00000452341	T;T;T;T;T;T;T	0.76839	-0.57;-0.58;-0.57;-0.58;-0.58;-0.59;-1.05	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.82015	0.4945	L	0.31664	0.95	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.998;0.998	D;D;D;D	0.85130	0.997;0.994;0.991;0.991	T	0.78198	-0.2297	10	0.21540	T	0.41	-19.3193	19.1613	0.93533	0.0:0.0:1.0:0.0	.	794;984;963;957	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	Q	985;963;985;963;957;984;794	ENSP00000362667:E985Q;ENSP00000362664:E963Q;ENSP00000386765:E985Q;ENSP00000386537:E963Q;ENSP00000387070:E957Q;ENSP00000387170:E984Q;ENSP00000411505:E794Q	ENSP00000362664:E963Q	E	+	1	0	GIGYF2	233412923	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	9.209000	0.95087	2.517000	0.84864	0.650000	0.86243	GAG		0.448	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		9	23	0	0	0	1	0	9	23				
CXXC1	30827	broad.mit.edu	37	18	47812521	47812521	+	Silent	SNP	C	C	T	rs201658397		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr18:47812521C>T	ENST00000285106.6	-	4	1044	c.330G>A	c.(328-330)aaG>aaA	p.K110K	CXXC1_ENST00000412036.2_Silent_p.K110K|CXXC1_ENST00000587396.1_5'Flank|CXXC1_ENST00000589940.1_Silent_p.K110K	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	110					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						GGACAGGCCTCTTGCGCCCTC	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		16895	0.0		0.001	False		,,,				2504	0.0					ENST00000285106.6																			0				autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						c.(328-330)aaG>aaA		CXXC finger protein 1							84.0	92.0	90.0					18																	47812521		2203	4300	6503	SO:0001819	synonymous_variant	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47812521C>T	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.330G>A	18.37:g.47812521C>T						CXXC1_ENST00000589940.1_Silent_p.K110K|CXXC1_ENST00000412036.2_Silent_p.K110K	p.K110K	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN			4	1044	-			110					B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Silent	SNP	ENST00000285106.6	37	c.330G>A	CCDS11945.1																																																																																				0.647	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		57	87	0	0	0	1	0	57	87				
LRRC71	149499	broad.mit.edu	37	1	156897321	156897321	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:156897321C>T	ENST00000337428.7	+	7	850	c.696C>T	c.(694-696)atC>atT	p.I232I	LRRC71_ENST00000490146.1_3'UTR	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	232										endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						ACAATAACATCGACGACCGCG	0.627																																						ENST00000337428.7																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						c.(694-696)atC>atT		leucine rich repeat containing 71							18.0	20.0	20.0					1																	156897321		2015	4168	6183	SO:0001819	synonymous_variant	149499							g.chr1:156897321C>T	BC033790	CCDS44249.1	1q23.1	2011-02-14	2011-02-14	2011-02-14	ENSG00000160838	ENSG00000160838			26556	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 92"""	C1orf92		14702039	Standard	NM_144702		Approved	FLJ32884	uc001fqm.2	Q8N4P6	OTTHUMG00000041298	ENST00000337428.7:c.696C>T	1.37:g.156897321C>T						LRRC71_ENST00000490146.1_3'UTR	p.I232I	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN			7	850	+			232					Q96M24	Silent	SNP	ENST00000337428.7	37	c.696C>T	CCDS44249.1																																																																																				0.627	LRRC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098961.1	NM_144702		6	24	0	0	0	1	0	6	24				
GMIP	51291	broad.mit.edu	37	19	19740868	19740868	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:19740868C>T	ENST00000203556.4	-	21	2954	c.2817G>A	c.(2815-2817)gaG>gaA	p.E939E	GMIP_ENST00000587238.1_Silent_p.E913E|LPAR2_ENST00000586703.1_5'Flank|LPAR2_ENST00000542587.1_5'Flank|LPAR2_ENST00000589311.1_5'Flank|LPAR2_ENST00000407877.3_5'Flank|GMIP_ENST00000445806.2_Silent_p.E910E	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	939					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GCCGGGCTGTCTCCTGGGTAA	0.682																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(2815-2817)gaG>gaA		GEM interacting protein							14.0	14.0	14.0					19																	19740868		2201	4299	6500	SO:0001819	synonymous_variant	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19740868C>T	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.2817G>A	19.37:g.19740868C>T						GMIP_ENST00000445806.2_Silent_p.E910E|GMIP_ENST00000587238.1_Silent_p.E913E	p.E939E	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN			21	2954	-			939					A0AVN9|B7ZLZ0	Silent	SNP	ENST00000203556.4	37	c.2817G>A	CCDS12408.1																																																																																				0.682	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		6	14	0	0	0	1	0	6	14				
KDM5C	8242	broad.mit.edu	37	X	53243984	53243984	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:53243984C>T	ENST00000375401.3	-	8	1541	c.1009G>A	c.(1009-1011)Gac>Aac	p.D337N	KDM5C-IT1_ENST00000412242.1_RNA|KDM5C_ENST00000404049.3_Missense_Mutation_p.D336N|KDM5C_ENST00000375383.3_Missense_Mutation_p.D296N|KDM5C_ENST00000375379.3_Missense_Mutation_p.D337N|KDM5C_ENST00000452825.3_Missense_Mutation_p.D270N	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	337					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						AGGAGCTTGTCATCCTCATCC	0.537			"""N, F, S"""		clear cell renal carcinoma																																	ENST00000452825.3				Rec	yes		X	Xp11.22-p11.21	8242	"""N, F, S"""	lysine (K)-specific demethylase 5C (JARID1C)			E			clear cell renal carcinoma		0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						c.(808-810)Gac>Aac		lysine (K)-specific demethylase 5C							178.0	101.0	127.0					X																	53243984		2203	4300	6503	SO:0001583	missense	8242				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrX:53243984C>T	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.1009G>A	X.37:g.53243984C>T	ENSP00000364550:p.Asp337Asn					KDM5C_ENST00000375379.3_Missense_Mutation_p.D337N|KDM5C_ENST00000375383.3_Missense_Mutation_p.D296N|KDM5C_ENST00000375401.3_Missense_Mutation_p.D337N|KDM5C_ENST00000404049.3_Missense_Mutation_p.D336N	p.D270N	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN			6	1340	-			337					B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	c.808G>A	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.844809	0.91197	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22	5.48	5.48	0.80851	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.098623	0.64402	D	0.000002	D	0.92205	0.7528	M	0.63208	1.945	0.51482	D	0.999928	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.986;0.992;0.992	D	0.92889	0.6329	10	0.72032	D	0.01	-25.9204	15.6634	0.77206	0.0:1.0:0.0:0.0	.	270;336;337	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	N	270;337;336;337;296	ENSP00000445176:D270N;ENSP00000364550:D337N;ENSP00000385394:D336N;ENSP00000364528:D337N;ENSP00000364532:D296N	ENSP00000364528:D337N	D	-	1	0	KDM5C	53260709	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.792000	0.85828	2.294000	0.77228	0.436000	0.28706	GAC		0.537	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		22	38	0	0	0	1	0	22	38				
FARS2	10667	broad.mit.edu	37	6	5368981	5368981	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr6:5368981C>T	ENST00000324331.6	+	2	514	c.178C>T	c.(178-180)Cag>Tag	p.Q60*	FARS2_ENST00000274680.4_Nonsense_Mutation_p.Q60*			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	60					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	ATCCTACCCTCAGGACGACCA	0.612																																						ENST00000324331.6																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15						c.(178-180)Cag>Tag		phenylalanyl-tRNA synthetase 2, mitochondrial	L-Phenylalanine(DB00120)						73.0	59.0	64.0					6																	5368981		2203	4300	6503	SO:0001587	stop_gained	10667				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding	g.chr6:5368981C>T	AF097441	CCDS4494.1	6p25.1	2011-07-01	2007-02-23	2004-12-03	ENSG00000145982	ENSG00000145982	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	21062	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 2, mitochondrial"""	611592	"""phenylalanine-tRNA synthetase 1 (mitochondrial)"""	FARS1		10329163	Standard	NM_006567		Approved	dJ236A3.1	uc003mwr.2	O95363	OTTHUMG00000014178	ENST00000324331.6:c.178C>T	6.37:g.5368981C>T	ENSP00000316335:p.Gln60*					FARS2_ENST00000274680.4_Nonsense_Mutation_p.Q60*	p.Q60*			O95363	SYFM_HUMAN			2	514	+	Ovarian(93;0.11)	all_hematologic(90;0.0104)	60					B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062	Nonsense_Mutation	SNP	ENST00000324331.6	37	c.178C>T	CCDS4494.1	.	.	.	.	.	.	.	.	.	.	C	38	6.857545	0.97889	.	.	ENSG00000145982	ENST00000274680;ENST00000324331	.	.	.	5.45	5.45	0.79879	.	0.267583	0.37136	N	0.002232	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-9.7694	18.6303	0.91358	0.0:1.0:0.0:0.0	.	.	.	.	X	60	.	ENSP00000274680:Q60X	Q	+	1	0	FARS2	5313980	0.989000	0.36119	0.898000	0.35279	0.972000	0.66771	4.461000	0.60115	2.713000	0.92767	0.655000	0.94253	CAG		0.612	FARS2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467790.1	NM_006567		29	48	0	0	0	1	0	29	48				
MT-ND5	4540	broad.mit.edu	37	M	12501	12501	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrM:12501G>A	ENST00000361567.2	+	1	165	c.165G>A	c.(163-165)atG>atA	p.M55I	MT-TE_ENST00000387459.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TH_ENST00000387441.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	55					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						ACAATATTCATGTGCCTAGAC	0.408																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(163-165)atG>atA		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001583	missense	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:12501G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.165G>A	M.37:g.12501G>A	ENSP00000354813:p.Met55Ile						p.M55I			P03915	NU5M_HUMAN			1	165	+			55					Q34773|Q8WCY3	Missense_Mutation	SNP	ENST00000361567.2	37	c.165G>A																																																																																					0.408	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		15	2	0	0	0	1	0	15	2				
MEIS1	4211	broad.mit.edu	37	2	66691284	66691284	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr2:66691284C>T	ENST00000272369.9	+	7	1131	c.674C>T	c.(673-675)tCa>tTa	p.S225L	MEIS1_ENST00000560281.2_Missense_Mutation_p.S225L|MEIS1_ENST00000495021.2_Missense_Mutation_p.S160L|MEIS1_ENST00000444274.2_Missense_Mutation_p.S193L|MEIS1_ENST00000488550.1_Missense_Mutation_p.S225L|MEIS1_ENST00000398506.2_Missense_Mutation_p.S223L|MEIS1_ENST00000407092.2_Missense_Mutation_p.S225L|MEIS1_ENST00000409517.1_3'UTR	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1	225	Ser/Thr-rich.				angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						TCTACTCGTTCAGGAGGAACC	0.512																																						ENST00000488550.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(673-675)tCa>tTa		Meis homeobox 1							51.0	54.0	53.0					2																	66691284		1967	4173	6140	SO:0001583	missense	4211						sequence-specific DNA binding transcription factor activity	g.chr2:66691284C>T		CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"""Homeoboxes / TALE class"""	7000	protein-coding gene	gene with protein product		601739	"""Meis1 (mouse) homolog"", ""Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"""			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	ENST00000272369.9:c.674C>T	2.37:g.66691284C>T	ENSP00000272369:p.Ser225Leu					MEIS1_ENST00000398506.2_Missense_Mutation_p.S223L|MEIS1_ENST00000407092.2_Missense_Mutation_p.S225L|MEIS1_ENST00000560281.2_Missense_Mutation_p.S225L|MEIS1_ENST00000272369.9_Missense_Mutation_p.S225L|MEIS1_ENST00000444274.2_Missense_Mutation_p.S193L|MEIS1_ENST00000409517.1_3'UTR|MEIS1_ENST00000495021.2_Missense_Mutation_p.S160L	p.S225L			O00470	MEIS1_HUMAN			7	973	+			225			Ser/Thr-rich.		A8MV50	Missense_Mutation	SNP	ENST00000272369.9	37	c.674C>T	CCDS46309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.7|29.7	5.031740|5.031740	0.93575|0.93575	.|.	.|.	ENSG00000143995|ENSG00000143995	ENST00000409517|ENST00000272369;ENST00000407092;ENST00000398506;ENST00000444274;ENST00000495021;ENST00000409622;ENST00000402908;ENST00000437869	.|D;D;D;T;D;T	.|0.86432	.|-2.12;-1.88;-1.88;1.48;-2.1;0.87	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.90448	.|0.7009	L|L	0.31664|0.31664	0.95|0.95	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;P;D	.|0.69078	.|0.968;0.997;0.895;0.997	.|P;D;P;D	.|0.83275	.|0.811;0.996;0.573;0.996	.|D	.|0.91058	.|0.4883	.|10	0.02654|0.62326	T|D	1|0.03	.|.	19.8155|19.8155	0.96566|0.96566	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|160;223;225;225	.|F5GYS8;O00470-2;O00470;F8W8U3	.|.;.;MEIS1_HUMAN;.	X|L	24|225;225;223;193;160;45;81;81	.|ENSP00000272369:S225L;ENSP00000384461:S225L;ENSP00000381518:S223L;ENSP00000403206:S193L;ENSP00000440571:S160L;ENSP00000397418:S81L	ENSP00000386708:Q24X|ENSP00000272369:S225L	Q|S	+|+	1|2	0|0	MEIS1|MEIS1	66544788|66544788	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.818000|7.818000	0.86416|0.86416	2.682000|2.682000	0.91365|0.91365	0.650000|0.650000	0.86243|0.86243	CAG|TCA		0.512	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319725.4	NM_002398		3	10	0	0	0	1	0	3	10				
SCN10A	6336	broad.mit.edu	37	3	38755460	38755460	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:38755460C>G	ENST00000449082.2	-	21	3792	c.3793G>C	c.(3793-3795)Gaa>Caa	p.E1265Q		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1265					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CGCATGCCTTCAAATCGAGAA	0.552																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(3793-3795)Gaa>Caa		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						64.0	66.0	65.0					3																	38755460		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38755460C>G	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3793G>C	3.37:g.38755460C>G	ENSP00000390600:p.Glu1265Gln						p.E1265Q	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	21	3792	-			1265					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.3793G>C	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085806	0.76642	.	.	ENSG00000185313	ENST00000449082	D	0.98732	-5.1	4.14	4.14	0.48551	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98160	0.9392	L	0.48218	1.51	0.41831	D	0.990074	D	0.57571	0.98	P	0.57960	0.83	D	0.97945	1.0328	10	0.30854	T	0.27	.	16.5766	0.84681	0.0:1.0:0.0:0.0	.	1265	Q9Y5Y9	SCNAA_HUMAN	Q	1265	ENSP00000390600:E1265Q	ENSP00000390600:E1265Q	E	-	1	0	SCN10A	38730464	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.638000	0.83328	2.133000	0.65898	0.411000	0.27672	GAA		0.552	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		32	89	0	0	0	1	0	32	89				
TMF1	7110	broad.mit.edu	37	3	69088019	69088019	+	Nonsense_Mutation	SNP	G	G	A	rs200769311		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:69088019G>A	ENST00000398559.2	-	7	2185	c.1969C>T	c.(1969-1971)Cag>Tag	p.Q657*	CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|TMF1_ENST00000543976.1_Nonsense_Mutation_p.Q660*|CTD-2013N24.2_ENST00000482368.2_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	657					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		AGGGCAGCCTGAATACTTCGG	0.353													G|||	1	0.000199681	0.0	0.0	5008	,	,		17273	0.0		0.001	False		,,,				2504	0.0					ENST00000543976.1																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1978-1980)Cag>Tag		TATA element modulatory factor 1							140.0	128.0	132.0					3																	69088019		1854	4092	5946	SO:0001587	stop_gained	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69088019G>A		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.1969C>T	3.37:g.69088019G>A	ENSP00000381567:p.Gln657*					CTD-2013N24.2_ENST00000598783.1_RNA|TMF1_ENST00000398559.2_Nonsense_Mutation_p.Q657*|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA	p.Q660*	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)	7	2224	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	657					B7ZLJ2|Q17R87|Q59GK0	Nonsense_Mutation	SNP	ENST00000398559.2	37	c.1978C>T	CCDS43105.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	40	8.455084	0.98817	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	.	.	.	5.56	5.56	0.83823	.	0.051403	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-8.9917	19.5268	0.95210	0.0:0.0:1.0:0.0	.	.	.	.	X	657;660;573	.	ENSP00000348582:Q573X	Q	-	1	0	TMF1	69170709	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.443000	0.73447	2.624000	0.88883	0.585000	0.79938	CAG		0.353	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		40	119	0	0	0	1	0	40	119				
DNAJC8	22826	broad.mit.edu	37	1	28555483	28555483	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:28555483C>T	ENST00000263697.4	-	2	156	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	DNAJC8_ENST00000489277.1_5'UTR	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	44					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)				kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		GTCAGTCTTTCAATCTGATTT	0.378																																						ENST00000263697.4																			0				kidney(1)|large_intestine(3)|lung(2)	6						c.(130-132)Gaa>Aaa		DnaJ (Hsp40) homolog, subfamily C, member 8							122.0	108.0	112.0					1																	28555483		1834	4097	5931	SO:0001583	missense	22826				nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding	g.chr1:28555483C>T	AF083190	CCDS41292.1	1p35	2011-09-02			ENSG00000126698	ENSG00000126698		"""Heat shock proteins / DNAJ (HSP40)"""	15470	protein-coding gene	gene with protein product						11147971	Standard	NM_014280		Approved	SPF31	uc001bpn.3	O75937	OTTHUMG00000003538	ENST00000263697.4:c.130G>A	1.37:g.28555483C>T	ENSP00000263697:p.Glu44Lys					DNAJC8_ENST00000489277.1_5'UTR	p.E44K	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)	2	156	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	44					B4DUU4|D3DPM0|Q6IBA4|Q8N4Z5|Q9P051|Q9P067	Missense_Mutation	SNP	ENST00000263697.4	37	c.130G>A	CCDS41292.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968934	0.74131	.	.	ENSG00000126698	ENST00000263697	T	0.22743	1.94	5.16	5.16	0.70880	Heat shock protein DnaJ, N-terminal (2);	0.163489	0.53938	D	0.000053	T	0.21550	0.0519	L	0.39898	1.24	0.58432	D	0.999999	B	0.22604	0.072	B	0.23419	0.046	T	0.02378	-1.1168	10	0.40728	T	0.16	-21.7975	17.4077	0.87477	0.0:1.0:0.0:0.0	.	44	O75937	DNJC8_HUMAN	K	44	ENSP00000263697:E44K	ENSP00000263697:E44K	E	-	1	0	DNAJC8	28428070	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.431000	0.73395	2.406000	0.81754	0.561000	0.74099	GAA		0.378	DNAJC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009860.1	NM_014280		43	111	0	0	0	1	0	43	111				
TRPC6	7225	broad.mit.edu	37	11	101342884	101342884	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr11:101342884G>A	ENST00000344327.3	-	8	2613	c.2189C>T	c.(2188-2190)tCa>tTa	p.S730L	TRPC6_ENST00000532133.1_Missense_Mutation_p.S652L|TRPC6_ENST00000348423.4_Missense_Mutation_p.S614L|TRPC6_ENST00000360497.4_Missense_Mutation_p.S675L	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	730					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TTCCTGGAATGAACTGTTGAT	0.328																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(2188-2190)tCa>tTa		transient receptor potential cation channel, subfamily C, member 6							112.0	114.0	113.0					11																	101342884		2203	4299	6502	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101342884G>A	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.2189C>T	11.37:g.101342884G>A	ENSP00000340913:p.Ser730Leu					TRPC6_ENST00000360497.4_Missense_Mutation_p.S675L|TRPC6_ENST00000348423.4_Missense_Mutation_p.S614L|TRPC6_ENST00000532133.1_Missense_Mutation_p.S652L	p.S730L	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	8	2613	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	730					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.2189C>T	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	G	31	5.060261	0.93846	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3	5.81	5.81	0.92471	.	0.057896	0.64402	N	0.000001	D	0.94925	0.8359	M	0.88377	2.95	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.996	D	0.95110	0.8237	10	0.87932	D	0	-4.7543	20.0784	0.97758	0.0:0.0:1.0:0.0	.	675;614;730	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	L	730;652;614;675	ENSP00000340913:S730L;ENSP00000435574:S652L;ENSP00000343672:S614L;ENSP00000353687:S675L	ENSP00000340913:S730L	S	-	2	0	TRPC6	100848094	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.736000	0.93811	0.655000	0.94253	TCA		0.328	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		64	111	0	0	0	1	0	64	111				
GBP2	2634	broad.mit.edu	37	1	89582907	89582907	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:89582907C>T	ENST00000370466.3	-	6	904	c.636G>A	c.(634-636)aaG>aaA	p.K212K	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	212	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		TTTTACTTTTCTTATCAGTAC	0.358																																						ENST00000370466.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20						c.(634-636)aaG>aaA		guanylate binding protein 2, interferon-inducible							48.0	48.0	48.0					1																	89582907		2203	4300	6503	SO:0001819	synonymous_variant	2634				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89582907C>T	BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.636G>A	1.37:g.89582907C>T						GBP2_ENST00000463660.1_5'UTR	p.K212K	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN		all cancers(265;0.0151)|Epithelial(280;0.0284)	6	904	-		Lung NSC(277;0.0908)	212					Q6GPH0|Q6IAU2|Q86TB0	Silent	SNP	ENST00000370466.3	37	c.636G>A	CCDS719.1																																																																																				0.358	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029406.2	NM_004120		32	32	0	0	0	1	0	32	32				
GARS	2617	broad.mit.edu	37	7	30639566	30639566	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:30639566C>T	ENST00000389266.3	+	3	569	c.328C>T	c.(328-330)Ctg>Ttg	p.L110L		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	110	WHEP-TRS. {ECO:0000255|PROSITE- ProRule:PRU00531}.				cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	CTAACAGGAGCTGGCGTTACA	0.383																																						ENST00000389266.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24						c.(328-330)Ctg>Ttg		glycyl-tRNA synthetase	Glycine(DB00145)						90.0	88.0	89.0					7																	30639566		1833	4083	5916	SO:0001819	synonymous_variant	2617				cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	g.chr7:30639566C>T	AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"""Aminoacyl tRNA synthetases / Class II"""	4162	protein-coding gene	gene with protein product	"""glycine tRNA ligase"""	600287	"""Charcot-Marie-Tooth neuropathy 2D"""	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.328C>T	7.37:g.30639566C>T							p.L110L	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN			3	569	+			110			WHEP-TRS.		B3KQA2|B4DIA0|Q969Y1	Silent	SNP	ENST00000389266.3	37	c.328C>T	CCDS43564.1																																																																																				0.383	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		45	101	0	0	0	1	0	45	101				
NTF3	4908	broad.mit.edu	37	12	5603698	5603698	+	Silent	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:5603698G>A	ENST00000331010.6	+	1	401	c.318G>A	c.(316-318)ctG>ctA	p.L106L	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000423158.3_Silent_p.L119L	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	106					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell-cell signaling (GO:0007267)|enteric nervous system development (GO:0048484)|epidermis development (GO:0008544)|glial cell fate determination (GO:0007403)|induction of positive chemotaxis (GO:0050930)|mechanoreceptor differentiation (GO:0042490)|myelination (GO:0042552)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive chemotaxis (GO:0050918)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of synaptic transmission (GO:0050804)|signal transduction (GO:0007165)|smooth muscle cell differentiation (GO:0051145)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular region (GO:0005576)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						GGGTCCTGCTGAGCGACAGCA	0.627																																					GBM(194;1104 2182 8339 9578 18493)	ENST00000423158.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						c.(355-357)ctG>ctA		neurotrophin 3							55.0	59.0	58.0					12																	5603698		2203	4300	6503	SO:0001819	synonymous_variant	4908				signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	g.chr12:5603698G>A		CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652		"""Endogenous ligands"""	8023	protein-coding gene	gene with protein product		162660				1889806	Standard	NM_002527		Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000331010.6:c.318G>A	12.37:g.5603698G>A						NTF3_ENST00000331010.6_Silent_p.L106L|NTF3_ENST00000535299.1_Intron	p.L119L	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN			2	569	+			106					B7Z1T5|Q6FH50	Silent	SNP	ENST00000331010.6	37	c.357G>A	CCDS8538.1																																																																																				0.627	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1			14	76	0	0	0	1	0	14	76				
RBMXL2	27288	broad.mit.edu	37	11	7111451	7111451	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr11:7111451G>A	ENST00000306904.5	+	1	1287	c.1100G>A	c.(1099-1101)cGg>cAg	p.R367Q		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	367	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCTTACAGCCGGTCAGGCTGC	0.652																																						ENST00000306904.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1099-1101)cGg>cAg		RNA binding motif protein, X-linked-like 2							12.0	14.0	14.0					11																	7111451		2198	4295	6493	SO:0001583	missense	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7111451G>A	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.1100G>A	11.37:g.7111451G>A	ENSP00000304139:p.Arg367Gln						p.R367Q	NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	1287	+			367			Arg/Gly/Pro-rich.		Q6PEZ2|Q9NQU0	Missense_Mutation	SNP	ENST00000306904.5	37	c.1100G>A	CCDS7777.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.954734	0.34471	.	.	ENSG00000170748	ENST00000306904	T	0.76060	-0.99	3.97	3.97	0.46021	.	0.162448	0.51477	U	0.000087	T	0.60919	0.2306	L	0.27053	0.805	0.26479	N	0.97514	D	0.53462	0.96	B	0.39503	0.301	T	0.63256	-0.6678	10	0.66056	D	0.02	.	14.3415	0.66630	0.0:0.0:1.0:0.0	.	367	O75526	HNRGT_HUMAN	Q	367	ENSP00000304139:R367Q	ENSP00000304139:R367Q	R	+	2	0	RBMXL2	7068027	1.000000	0.71417	0.920000	0.36463	0.112000	0.19704	6.007000	0.70731	2.492000	0.84095	0.655000	0.94253	CGG		0.652	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469		7	18	0	0	0	1	0	7	18				
DDX50	79009	broad.mit.edu	37	10	70706381	70706381	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr10:70706381G>C	ENST00000373585.3	+	15	2316	c.2209G>C	c.(2209-2211)Gac>Cac	p.D737H		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	737						membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						ACGGAGTTTTGACTGAGTATT	0.423																																						ENST00000373585.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(2209-2211)Gac>Cac		DEAD (Asp-Glu-Ala-Asp) box polypeptide 50							76.0	77.0	77.0					10																	70706381		2203	4300	6503	SO:0001583	missense	79009					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr10:70706381G>C	AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.2209G>C	10.37:g.70706381G>C	ENSP00000362687:p.Asp737His						p.D737H	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN			15	2316	+			737					Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	ENST00000373585.3	37	c.2209G>C	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.317722	0.40996	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.21361	2.01	4.9	2.9	0.33743	.	1.349610	0.04849	N	0.442015	T	0.12603	0.0306	N	0.08118	0	0.30693	N	0.751118	B	0.09022	0.002	B	0.06405	0.002	T	0.19549	-1.0302	10	0.72032	D	0.01	-7.7052	6.3091	0.21154	0.1011:0.1865:0.7123:0.0	.	737	Q9BQ39	DDX50_HUMAN	H	737;711	ENSP00000362687:D737H	ENSP00000362687:D737H	D	+	1	0	DDX50	70376387	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.814000	0.38972	1.196000	0.43129	0.467000	0.42956	GAC		0.423	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		55	74	0	0	0	1	0	55	74				
ITIH1	3697	broad.mit.edu	37	3	52819193	52819193	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:52819193G>A	ENST00000273283.2	+	12	1565	c.1541G>A	c.(1540-1542)cGc>cAc	p.R514H	ITIH1_ENST00000537050.1_Missense_Mutation_p.R226H|ITIH1_ENST00000405128.3_5'Flank|ITIH1_ENST00000540715.1_Missense_Mutation_p.R372H|ITIH1_ENST00000542827.1_Missense_Mutation_p.R514H	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	514	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.R514H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GTGGCCGGGCGCATTGCTGAC	0.572																																						ENST00000273283.2																			1	Substitution - Missense(1)	p.R514H(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(1540-1542)cGc>cAc		inter-alpha-trypsin inhibitor heavy chain 1							134.0	123.0	127.0					3																	52819193		2203	4300	6503	SO:0001583	missense	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52819193G>A		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.1541G>A	3.37:g.52819193G>A	ENSP00000273283:p.Arg514His					ITIH1_ENST00000542827.1_Missense_Mutation_p.R514H|ITIH1_ENST00000540715.1_Missense_Mutation_p.R372H|ITIH1_ENST00000537050.1_Missense_Mutation_p.R226H	p.R514H	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	12	1565	+			514			Hyaluronan-binding.		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	ENST00000273283.2	37	c.1541G>A	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095707	0.56075	.	.	ENSG00000055957	ENST00000542827;ENST00000273283;ENST00000540715;ENST00000537050;ENST00000428133	T;T;T;T;T	0.13420	2.59;2.59;2.59;2.59;2.59	4.88	3.92	0.45320	.	0.055516	0.64402	D	0.000001	T	0.17365	0.0417	M	0.85197	2.74	0.34732	D	0.729813	P;B;P	0.47841	0.901;0.333;0.752	B;B;B	0.35813	0.211;0.02;0.189	T	0.43130	-0.9410	10	0.87932	D	0	-16.6527	9.8078	0.40803	0.1717:0.0:0.8283:0.0	.	372;115;514	F5H165;Q9P1C5;P19827	.;.;ITIH1_HUMAN	H	514;514;372;226;67	ENSP00000442584:R514H;ENSP00000273283:R514H;ENSP00000443973:R372H;ENSP00000443847:R226H;ENSP00000395836:R67H	ENSP00000273283:R514H	R	+	2	0	ITIH1	52794233	0.510000	0.26171	1.000000	0.80357	0.990000	0.78478	1.821000	0.39041	2.557000	0.86248	0.543000	0.68304	CGC		0.572	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		32	135	0	0	0	1	0	32	135				
SPATA19	219938	broad.mit.edu	37	11	133712412	133712412	+	Missense_Mutation	SNP	G	G	C	rs531367211		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr11:133712412G>C	ENST00000299140.3	-	5	459	c.405C>G	c.(403-405)atC>atG	p.I135M	SPATA19_ENST00000532889.1_Missense_Mutation_p.I135M	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	135					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	mitochondrial outer membrane (GO:0005741)				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		GATCTCGCATGATGTCCTCTG	0.498																																						ENST00000299140.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11						c.(403-405)atC>atG		spermatogenesis associated 19							275.0	213.0	234.0					11																	133712412		2201	4297	6498	SO:0001583	missense	219938				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane		g.chr11:133712412G>C	AK098717	CCDS8493.1	11q25	2010-04-23				ENSG00000166118			30614	protein-coding gene	gene with protein product	"""spergen 1"", ""cancer/testis antigen 132"""	609805				12477932	Standard	XM_005271448		Approved	FLJ25851, spergen1, SPAS1, CT132	uc001qgv.1	Q7Z5L4		ENST00000299140.3:c.405C>G	11.37:g.133712412G>C	ENSP00000299140:p.Ile135Met					SPATA19_ENST00000532889.1_Missense_Mutation_p.I135M	p.I135M	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)	5	459	-	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)	135					Q8N7A9	Missense_Mutation	SNP	ENST00000299140.3	37	c.405C>G	CCDS8493.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.679688	0.29783	.	.	ENSG00000166118	ENST00000299140;ENST00000532889	T;T	0.50548	0.74;0.74	5.66	-4.53	0.03462	.	0.599754	0.15557	N	0.256113	T	0.20210	0.0486	N	0.08118	0	0.09310	N	1	B	0.25206	0.12	B	0.20955	0.032	T	0.12400	-1.0549	10	0.66056	D	0.02	-19.2414	5.9699	0.19346	0.1017:0.2332:0.5479:0.1172	.	135	Q7Z5L4	SPT19_HUMAN	M	135	ENSP00000299140:I135M;ENSP00000435248:I135M	ENSP00000299140:I135M	I	-	3	3	SPATA19	133217622	0.021000	0.18746	0.003000	0.11579	0.870000	0.49936	-0.188000	0.09642	-0.356000	0.08187	0.462000	0.41574	ATC		0.498	SPATA19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393281.1	NM_174927		55	83	0	0	0	1	0	55	83				
HUWE1	10075	broad.mit.edu	37	X	53573555	53573555	+	Splice_Site	SNP	T	T	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:53573555T>A	ENST00000342160.3	-	69	11216		c.e69-2		HUWE1_ENST00000474288.1_Splice_Site|HUWE1_ENST00000262854.6_Splice_Site			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase						base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGTCAACACCTGAGAAAAAGA	0.502																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.e69-2		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							47.0	40.0	43.0					X																	53573555		2203	4300	6503	SO:0001630	splice_region_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53573555T>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.10759-2A>T	X.37:g.53573555T>A						HUWE1_ENST00000262854.6_Splice_Site|HUWE1_ENST00000474288.1_Splice_Site				Q7Z6Z7	HUWE1_HUMAN			69	11216	-								O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Splice_Site	SNP	ENST00000342160.3	37		CCDS35301.1	.	.	.	.	.	.	.	.	.	.	T	17.49	3.403127	0.62288	.	.	ENSG00000086758	ENST00000342160;ENST00000427052;ENST00000426907;ENST00000262854	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6978	0.62591	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	HUWE1	53590280	1.000000	0.71417	0.960000	0.40013	0.689000	0.40095	7.220000	0.78008	1.878000	0.54408	0.486000	0.48141	.		0.502	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	Intron	24	27	0	0	0	1	0	24	27				
PRMT8	56341	broad.mit.edu	37	12	3662836	3662836	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:3662836C>G	ENST00000382622.3	+	4	827	c.437C>G	c.(436-438)tCt>tGt	p.S146C	PRMT8_ENST00000452611.2_Missense_Mutation_p.S137C|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	146	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			TCCAGTATTTCTGACTACTCA	0.473																																						ENST00000382622.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(436-438)tCt>tGt		protein arginine methyltransferase 8							121.0	109.0	113.0					12																	3662836		2203	4300	6503	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3662836C>G	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.437C>G	12.37:g.3662836C>G	ENSP00000372067:p.Ser146Cys					PRMT8_ENST00000452611.2_Missense_Mutation_p.S137C|PRMT8_ENST00000261252.4_3'UTR	p.S146C	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		4	827	+			146					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.437C>G	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009494	0.54361	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.77877	-1.13;-1.13	5.47	5.47	0.80525	.	0.106321	0.64402	D	0.000002	T	0.78298	0.4261	N	0.11341	0.13	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.73380	0.979;0.98	T	0.83150	-0.0104	10	0.87932	D	0	.	16.8326	0.85948	0.0:1.0:0.0:0.0	.	137;146	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	C	137;146	ENSP00000414507:S137C;ENSP00000372067:S146C	ENSP00000372067:S146C	S	+	2	0	PRMT8	3533097	1.000000	0.71417	1.000000	0.80357	0.116000	0.19942	7.776000	0.85560	2.553000	0.86117	0.655000	0.94253	TCT		0.473	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		44	73	0	0	0	1	0	44	73				
BMX	660	broad.mit.edu	37	X	15555263	15555263	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:15555263G>T	ENST00000357607.2	+	14	1417	c.1229G>T	c.(1228-1230)tGg>tTg	p.W410L	BMX_ENST00000348343.6_Missense_Mutation_p.W410L|BMX_ENST00000342014.6_Missense_Mutation_p.W410L			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	410					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					TTAGGAATCTGGGAACTGAAA	0.483																																						ENST00000357607.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30						c.(1228-1230)tGg>tTg		BMX non-receptor tyrosine kinase							185.0	177.0	180.0					X																	15555263		2203	4300	6503	SO:0001583	missense	660				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chrX:15555263G>T	AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.1229G>T	X.37:g.15555263G>T	ENSP00000350224:p.Trp410Leu					BMX_ENST00000342014.6_Missense_Mutation_p.W410L|BMX_ENST00000348343.6_Missense_Mutation_p.W410L	p.W410L			P51813	BMX_HUMAN			14	1417	+	Hepatocellular(33;0.183)		410					A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	37	c.1229G>T	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	g	21.0	4.088961	0.76756	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	T;T;T	0.25579	1.79;1.79;1.79	5.36	5.36	0.76844	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000011	T	0.54334	0.1852	M	0.81497	2.545	0.47308	D	0.999387	D	0.76494	0.999	D	0.77004	0.989	T	0.59658	-0.7413	10	0.62326	D	0.03	.	16.613	0.84899	0.0:0.0:1.0:0.0	.	410	P51813	BMX_HUMAN	L	410	ENSP00000350224:W410L;ENSP00000308774:W410L;ENSP00000340082:W410L	ENSP00000340082:W410L	W	+	2	0	BMX	15465184	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	8.277000	0.89896	2.230000	0.72887	0.525000	0.51046	TGG		0.483	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721		91	271	1	0	9.24773e-40	1	9.90191e-40	91	271				
BNC2	54796	broad.mit.edu	37	9	16436303	16436303	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:16436303T>A	ENST00000380672.4	-	6	1946	c.1889A>T	c.(1888-1890)aAg>aTg	p.K630M	BNC2_ENST00000380666.2_Missense_Mutation_p.K630M|BNC2_ENST00000545497.1_Missense_Mutation_p.K535M|BNC2_ENST00000380667.2_Missense_Mutation_p.K563M	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GGGCTTTTTCTTGGGTGCCAG	0.527																																						ENST00000380672.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(1888-1890)aAg>aTg		basonuclin 2							89.0	87.0	88.0					9																	16436303		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16436303T>A	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1889A>T	9.37:g.16436303T>A	ENSP00000370047:p.Lys630Met					BNC2_ENST00000380666.2_Missense_Mutation_p.K630M|BNC2_ENST00000545497.1_Missense_Mutation_p.K535M|BNC2_ENST00000380667.2_Missense_Mutation_p.K563M	p.K630M	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	1946	-			630	K -> T (in Ref. 1; BAC03837).					Missense_Mutation	SNP	ENST00000380672.4	37	c.1889A>T	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	T	15.65	2.895599	0.52121	.	.	ENSG00000173068	ENST00000380672;ENST00000411752;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T;T	0.65364	0.74;-0.15;0.75;0.8;0.78;0.76	6.17	5.01	0.66863	.	0.041945	0.85682	D	0.000000	T	0.76814	0.4040	M	0.67397	2.05	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.996;0.997;1.0;0.997;0.996;0.996;0.996;0.996	D;P;D;D;P;P;P;P;P	0.83275	0.988;0.75;0.912;0.996;0.873;0.75;0.819;0.819;0.819	T	0.78656	-0.2119	10	0.72032	D	0.01	-19.9208	13.5284	0.61607	0.0:0.0:0.1301:0.8699	.	535;563;630;456;630;587;630;535;395	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	M	630;23;587;563;535;456;630;630	ENSP00000370047:K630M;ENSP00000392212:K23M;ENSP00000408370:K587M;ENSP00000370042:K563M;ENSP00000444640:K535M;ENSP00000370041:K630M	ENSP00000370041:K630M	K	-	2	0	BNC2	16426303	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.040000	0.89188	1.119000	0.41883	0.533000	0.62120	AAG		0.527	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		40	88	0	0	0	1	0	40	88				
BRPF1	7862	broad.mit.edu	37	3	9783100	9783100	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:9783100C>T	ENST00000457855.1	+	4	1842	c.1831C>T	c.(1831-1833)Cgg>Tgg	p.R611W	BRPF1_ENST00000424362.1_Missense_Mutation_p.R611W|BRPF1_ENST00000302054.3_Missense_Mutation_p.R611W|BRPF1_ENST00000383829.2_Missense_Mutation_p.R611W|BRPF1_ENST00000433861.2_Missense_Mutation_p.R611W			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	611	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GATCCGCAAGCGGGAAAAACT	0.522																																						ENST00000383829.2																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(1831-1833)Cgg>Tgg		bromodomain and PHD finger containing, 1							52.0	60.0	57.0					3																	9783100		2203	4300	6503	SO:0001583	missense	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9783100C>T	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.1831C>T	3.37:g.9783100C>T	ENSP00000410210:p.Arg611Trp					BRPF1_ENST00000433861.2_Missense_Mutation_p.R611W|BRPF1_ENST00000424362.1_Missense_Mutation_p.R611W|BRPF1_ENST00000302054.3_Missense_Mutation_p.R611W|BRPF1_ENST00000457855.1_Missense_Mutation_p.R611W	p.R611W	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN			5	2235	+	Medulloblastoma(99;0.227)		611			Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	c.1831C>T	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978093	0.92982	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.32988	1.47;1.43;2.55;1.43;1.43	5.62	4.71	0.59529	Bromodomain (1);	0.000000	0.85682	D	0.000000	T	0.62146	0.2404	M	0.88906	2.99	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.997	T	0.70004	-0.4991	10	0.87932	D	0	.	15.9085	0.79450	0.1357:0.8643:0.0:0.0	.	611;611;611;611	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	W	611	ENSP00000402485:R611W;ENSP00000398863:R611W;ENSP00000373340:R611W;ENSP00000306297:R611W;ENSP00000410210:R611W	ENSP00000306297:R611W	R	+	1	2	BRPF1	9758100	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.002000	0.40835	2.633000	0.89246	0.655000	0.94253	CGG		0.522	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		22	103	0	0	0	1	0	22	103				
SF3A2	8175	broad.mit.edu	37	19	2247868	2247868	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:2247868G>A	ENST00000221494.5	+	9	1136	c.718G>A	c.(718-720)Ggt>Agt	p.G240S	MIR4321_ENST00000592276.1_RNA|AMH_ENST00000221496.4_5'Flank	NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	240	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGATGAACGGTCTGCCCCC	0.706																																						ENST00000221494.4																			0				NS(1)|large_intestine(1)|lung(2)	4						c.(718-720)Ggt>Agt		splicing factor 3a, subunit 2, 66kDa							12.0	16.0	15.0					19																	2247868		2156	4225	6381	SO:0001583	missense	8175				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding	g.chr19:2247868G>A	L21990	CCDS12084.1	19p13.3	2012-10-02	2002-08-29		ENSG00000104897	ENSG00000104897			10766	protein-coding gene	gene with protein product		600796	"""splicing factor 3a, subunit 2, 66kD"""			8211113, 8541848	Standard	NM_007165		Approved	SF3a66, SAP62, PRPF11, Prp11	uc002lvg.3	Q15428	OTTHUMG00000180414	ENST00000221494.5:c.718G>A	19.37:g.2247868G>A	ENSP00000221494:p.Gly240Ser						p.G240S	NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1136	+		Hepatocellular(1079;0.137)	240			Pro-rich.		B2RBU1|D6W605|O75245	Missense_Mutation	SNP	ENST00000221494.5	37	c.718G>A	CCDS12084.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.826674	0.50739	.	.	ENSG00000104897	ENST00000221494	T	0.42900	0.96	4.35	4.35	0.52113	.	0.062574	0.64402	D	0.000007	T	0.49406	0.1555	L	0.47716	1.5	0.48696	D	0.999692	D	0.76494	0.999	P	0.53401	0.725	T	0.54833	-0.8234	10	0.66056	D	0.02	-12.8196	15.8108	0.78561	0.0:0.0:1.0:0.0	.	240	Q15428	SF3A2_HUMAN	S	240	ENSP00000221494:G240S	ENSP00000221494:G240S	G	+	1	0	SF3A2	2198868	1.000000	0.71417	0.408000	0.26446	0.250000	0.25880	6.985000	0.76193	2.145000	0.66743	0.462000	0.41574	GGT		0.706	SF3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451268.3			10	40	0	0	0	1	0	10	40				
RYR1	6261	broad.mit.edu	37	19	38976258	38976258	+	Missense_Mutation	SNP	C	C	T	rs371777056		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:38976258C>T	ENST00000359596.3	+	34	4963	c.4963C>T	c.(4963-4965)Cgc>Tgc	p.R1655C	RYR1_ENST00000355481.4_Missense_Mutation_p.R1655C|RYR1_ENST00000360985.3_Missense_Mutation_p.R1655C			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1655	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCTGTCGGAGCGCCTGGACCT	0.627																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(4963-4965)Cgc>Tgc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)	C	CYS/ARG,CYS/ARG	1,4399		0,1,2199	44.0	42.0	42.0		4963,4963	4.0	1.0	19		42	0,8586		0,0,4293	no	missense,missense	RYR1	NM_000540.2,NM_001042723.1	180,180	0,1,6492	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	1655/5039,1655/5034	38976258	1,12985	2200	4293	6493	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38976258C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.4963C>T	19.37:g.38976258C>T	ENSP00000352608:p.Arg1655Cys					RYR1_ENST00000360985.3_Missense_Mutation_p.R1655C|RYR1_ENST00000359596.3_Missense_Mutation_p.R1655C	p.R1655C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		34	5094	+	all_cancers(60;7.91e-06)		1655			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.4963C>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362048	0.61403	2.27E-4	0.0	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.96830	-4.14;-4.14;-4.14	3.98	3.98	0.46160	.	0.078316	0.48767	U	0.000169	D	0.97081	0.9046	L	0.51422	1.61	0.53005	D	0.999962	D;D	0.89917	1.0;0.999	D;D	0.75020	0.985;0.973	D	0.97725	1.0199	10	0.66056	D	0.02	.	15.8478	0.78905	0.0:1.0:0.0:0.0	.	1655;1655	P21817-2;P21817	.;RYR1_HUMAN	C	1655	ENSP00000352608:R1655C;ENSP00000347667:R1655C;ENSP00000354254:R1655C	ENSP00000347667:R1655C	R	+	1	0	RYR1	43668098	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.839000	0.69395	2.043000	0.60533	0.650000	0.86243	CGC		0.627	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			22	74	0	0	0	1	0	22	74				
DCTN4	51164	broad.mit.edu	37	5	150097909	150097909	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:150097909C>G	ENST00000447998.2	-	11	1115	c.1000G>C	c.(1000-1002)Gag>Cag	p.E334Q	DCTN4_ENST00000424236.1_Missense_Mutation_p.E277Q|DCTN4_ENST00000446090.2_Missense_Mutation_p.E341Q	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	334					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGAGGTTCTCAACTGGATTT	0.483																																						ENST00000447998.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10						c.(1000-1002)Gag>Cag		dynactin 4 (p62)							122.0	105.0	111.0					5																	150097909		2203	4300	6503	SO:0001583	missense	51164					centrosome|nucleus	protein N-terminus binding	g.chr5:150097909C>G	AF195120	CCDS4310.1, CCDS47310.1, CCDS47311.1	5q31-q32	2008-05-23			ENSG00000132912	ENSG00000132912			15518	protein-coding gene	gene with protein product		614758				10843801, 16554302	Standard	NM_016221		Approved		uc010jhi.3	Q9UJW0	OTTHUMG00000130079	ENST00000447998.2:c.1000G>C	5.37:g.150097909C>G	ENSP00000416968:p.Glu334Gln					DCTN4_ENST00000446090.2_Missense_Mutation_p.E341Q|DCTN4_ENST00000424236.1_Missense_Mutation_p.E277Q	p.E334Q	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		11	1115	-		Medulloblastoma(196;0.167)	334					B3KWW0|D3DQH0|E5RGT5|Q8TAN8	Missense_Mutation	SNP	ENST00000447998.2	37	c.1000G>C	CCDS4310.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805781	0.70682	.	.	ENSG00000132912	ENST00000447998;ENST00000424236;ENST00000446090	T;T;T	0.23348	1.91;1.91;1.91	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.34077	0.0885	L	0.38838	1.175	0.80722	D	1	P;P	0.48998	0.899;0.918	P;P	0.52823	0.587;0.71	T	0.00733	-1.1589	10	0.15952	T	0.53	-19.7594	20.3473	0.98799	0.0:1.0:0.0:0.0	.	341;334	Q9UJW0-3;Q9UJW0	.;DCTN4_HUMAN	Q	334;277;341	ENSP00000416968:E334Q;ENSP00000411251:E277Q;ENSP00000414906:E341Q	ENSP00000411251:E277Q	E	-	1	0	DCTN4	150078102	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.414000	0.80117	2.884000	0.98904	0.655000	0.94253	GAG		0.483	DCTN4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252372.1			27	45	0	0	0	1	0	27	45				
SORCS1	114815	broad.mit.edu	37	10	108536327	108536327	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr10:108536327C>T	ENST00000263054.6	-	4	857	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	SORCS1_ENST00000344440.6_Missense_Mutation_p.E284K	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	284					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ATCCAGTCTTCTTGTTTGGGG	0.413																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(850-852)Gaa>Aaa		sortilin-related VPS10 domain containing receptor 1							183.0	170.0	175.0					10																	108536327		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108536327C>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.850G>A	10.37:g.108536327C>T	ENSP00000263054:p.Glu284Lys					SORCS1_ENST00000344440.6_Missense_Mutation_p.E284K	p.E284K	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	4	857	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	284					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.850G>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	32	5.143511	0.94603	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.50277	0.75;0.75	5.61	4.69	0.59074	VPS10 (1);	0.129767	0.53938	D	0.000044	T	0.68568	0.3015	M	0.79258	2.445	0.51012	D	0.999902	D;D;D;D;D	0.71674	0.997;0.998;0.997;0.995;0.997	D;D;D;D;D	0.71184	0.917;0.962;0.972;0.917;0.972	T	0.71994	-0.4424	9	.	.	.	-18.2167	15.9771	0.80076	0.1359:0.8641:0.0:0.0	.	284;284;284;284;284	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	K	284	ENSP00000263054:E284K;ENSP00000345964:E284K	.	E	-	1	0	SORCS1	108526317	1.000000	0.71417	0.832000	0.32986	0.903000	0.53119	7.445000	0.80570	1.469000	0.48083	0.555000	0.69702	GAA		0.413	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		57	93	0	0	0	1	0	57	93				
ZNF213	7760	broad.mit.edu	37	16	3190831	3190831	+	Missense_Mutation	SNP	C	C	T	rs113065910		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr16:3190831C>T	ENST00000396878.3	+	6	1338	c.863C>T	c.(862-864)gCg>gTg	p.A288V	ZNF213_ENST00000576416.1_Missense_Mutation_p.A288V|ZNF213_ENST00000574902.1_Missense_Mutation_p.A288V|ZNF213_ENST00000416391.2_Missense_Mutation_p.A130V	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	288	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						CGGCCGAGGGCGGCCCTGGGC	0.746																																						ENST00000396878.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						c.(862-864)gCg>gTg		zinc finger protein 213																																				SO:0001583	missense	7760				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3190831C>T	AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13005	protein-coding gene	gene with protein product		608387				9653642, 10023065	Standard	NM_004220		Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.863C>T	16.37:g.3190831C>T	ENSP00000380087:p.Ala288Val					ZNF213_ENST00000416391.2_Missense_Mutation_p.A130V|ZNF213_ENST00000576416.1_Missense_Mutation_p.A288V|ZNF213_ENST00000574902.1_Missense_Mutation_p.A288V	p.A288V	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN			6	1338	+			288			KRAB.		A8K1B9|B4DMG6|Q96IS1	Missense_Mutation	SNP	ENST00000396878.3	37	c.863C>T	CCDS10495.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.183081	0.38511	.	.	ENSG00000085644	ENST00000396878;ENST00000416391	T;T	0.05447	3.47;3.44	4.99	-7.94	0.01152	Krueppel-associated box (1);	1.408510	0.04908	N	0.452610	T	0.03739	0.0106	N	0.22421	0.69	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.44452	-0.9327	10	0.27785	T	0.31	.	6.7029	0.23234	0.0:0.3067:0.2804:0.4129	.	288	O14771	ZN213_HUMAN	V	288;130	ENSP00000380087:A288V;ENSP00000403892:A130V	ENSP00000380087:A288V	A	+	2	0	ZNF213	3130832	0.000000	0.05858	0.000000	0.03702	0.265000	0.26407	-2.378000	0.01068	-0.865000	0.04073	0.462000	0.41574	GCG		0.746	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437334.1	NM_004220		12	11	0	0	0	1	0	12	11				
UHRF2	115426	broad.mit.edu	37	9	6460620	6460620	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:6460620C>T	ENST00000276893.5	+	4	860	c.692C>T	c.(691-693)cCa>cTa	p.P231L		NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	231	Interaction with PCNP.|Required for interaction with histone H3. {ECO:0000250}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		GATCTTAGACCACGAGCTAGA	0.368																																						ENST00000276893.5																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17						c.(691-693)cCa>cTa		ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase							100.0	101.0	100.0					9																	6460620		2203	4300	6503	SO:0001583	missense	115426				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:6460620C>T	AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	12557	protein-coding gene	gene with protein product	"""Np95-like ring finger protein"""	615211	"""ubiquitin-like with PHD and ring finger domains 2"""			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.692C>T	9.37:g.6460620C>T	ENSP00000276893:p.Pro231Leu						p.P231L	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)	4	860	+		Acute lymphoblastic leukemia(23;0.158)	231			Interaction with PCNP.		Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Missense_Mutation	SNP	ENST00000276893.5	37	c.692C>T	CCDS6469.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458299	0.84317	.	.	ENSG00000147854	ENST00000276893;ENST00000450508	D;T	0.86694	-2.16;0.53	5.64	5.64	0.86602	Domain of unknown function DUF3590 (1);	0.114641	0.64402	D	0.000015	D	0.87912	0.6297	L	0.43152	1.355	0.80722	D	1	P;B	0.36125	0.538;0.395	P;B	0.44921	0.464;0.366	D	0.87369	0.2349	10	0.54805	T	0.06	-9.5329	19.2992	0.94136	0.0:1.0:0.0:0.0	.	8;231	B3KV82;Q96PU4	.;UHRF2_HUMAN	L	231;8	ENSP00000276893:P231L;ENSP00000399217:P8L	ENSP00000276893:P231L	P	+	2	0	UHRF2	6450620	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.024000	0.76443	2.652000	0.90054	0.591000	0.81541	CCA		0.368	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051665.3	NM_152306		39	113	0	0	0	1	0	39	113				
HNF4G	3174	broad.mit.edu	37	8	76471076	76471076	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr8:76471076G>A	ENST00000354370.1	+	9	1056	c.786G>A	c.(784-786)atG>atA	p.M262I	HNF4G_ENST00000396423.2_Missense_Mutation_p.M299I			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	262					endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TTAAGAACATGAGGTTCCAAG	0.453																																						ENST00000396423.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(895-897)atG>atA		hepatocyte nuclear factor 4, gamma							83.0	77.0	79.0					8																	76471076		2203	4300	6503	SO:0001583	missense	3174				endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr8:76471076G>A		CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"""Nuclear hormone receptors"""	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.786G>A	8.37:g.76471076G>A	ENSP00000346339:p.Met262Ile					HNF4G_ENST00000354370.1_Missense_Mutation_p.M262I	p.M299I	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		8	1021	+	Breast(64;0.0448)		262					Q7Z2V9|Q9UH81|Q9UIS6	Missense_Mutation	SNP	ENST00000354370.1	37	c.897G>A		.	.	.	.	.	.	.	.	.	.	G	19.33	3.806608	0.70682	.	.	ENSG00000164749	ENST00000354370;ENST00000396423	D;D	0.96232	-3.95;-3.95	5.62	5.62	0.85841	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.033448	0.85682	D	0.000000	D	0.93654	0.7973	N	0.20574	0.59	0.80722	D	1	B;B	0.13145	0.007;0.007	B;B	0.28991	0.042;0.097	D	0.89549	0.3798	10	0.66056	D	0.02	.	19.6604	0.95864	0.0:0.0:1.0:0.0	.	299;262	F1D8Q4;Q14541	.;HNF4G_HUMAN	I	262;299	ENSP00000346339:M262I;ENSP00000379701:M299I	ENSP00000346339:M262I	M	+	3	0	HNF4G	76633631	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	9.807000	0.99171	2.648000	0.89879	0.655000	0.94253	ATG		0.453	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2	NM_004133		36	71	0	0	0	1	0	36	71				
GPR107	57720	broad.mit.edu	37	9	132890983	132890983	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:132890983C>T	ENST00000372406.1	+	19	2156	c.1649C>T	c.(1648-1650)tCa>tTa	p.S550L	GPR107_ENST00000347136.6_Missense_Mutation_p.S502L|GPR107_ENST00000372410.3_Missense_Mutation_p.S521L	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	550						integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				CGTCCGGCTTCAGATAACCCC	0.448																																						ENST00000372406.1																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11						c.(1648-1650)tCa>tTa		G protein-coupled receptor 107							162.0	164.0	163.0					9																	132890983		2203	4300	6503	SO:0001583	missense	57720					integral to membrane		g.chr9:132890983C>T	AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"""GPCR / Unclassified : 7TM orphan receptors"""	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.1649C>T	9.37:g.132890983C>T	ENSP00000361483:p.Ser550Leu					GPR107_ENST00000347136.6_Missense_Mutation_p.S502L|GPR107_ENST00000372410.3_Missense_Mutation_p.S521L	p.S550L	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN			19	2156	+		Ovarian(14;0.000531)	550					A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Missense_Mutation	SNP	ENST00000372406.1	37	c.1649C>T	CCDS48041.1	.	.	.	.	.	.	.	.	.	.	C	34	5.347981	0.95807	.	.	ENSG00000148358	ENST00000372406;ENST00000347136;ENST00000372410	T;T;T	0.25579	1.79;1.83;1.82	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000001	T	0.51975	0.1706	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.996	T	0.38908	-0.9639	10	0.36615	T	0.2	-9.9091	18.5764	0.91157	0.0:1.0:0.0:0.0	.	521;550;502	G5E994;Q5VW38;Q5VW38-2	.;GP107_HUMAN;.	L	550;502;521	ENSP00000361483:S550L;ENSP00000336988:S502L;ENSP00000361487:S521L	ENSP00000336988:S502L	S	+	2	0	GPR107	131930804	1.000000	0.71417	0.999000	0.59377	0.850000	0.48378	7.210000	0.77924	2.724000	0.93272	0.561000	0.74099	TCA		0.448	GPR107-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054643.2			66	213	0	0	0	1	0	66	213				
TM9SF1	10548	broad.mit.edu	37	14	24663958	24663958	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr14:24663958C>T	ENST00000261789.4	-	2	626	c.268G>A	c.(268-270)Gag>Aag	p.E90K	TM9SF1_ENST00000528669.1_Missense_Mutation_p.E90K|TM9SF1_ENST00000396854.4_Missense_Mutation_p.E90K|TM9SF1_ENST00000556387.1_Missense_Mutation_p.E299K|TM9SF1_ENST00000524835.1_Missense_Mutation_p.E3K|TM9SF1_ENST00000530611.1_Missense_Mutation_p.E299K	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	90					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		TACAAAGACTCAGCCATTCGG	0.507																																						ENST00000530611.1																			0				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24						c.(895-897)Gag>Aag		transmembrane 9 superfamily member 1							325.0	326.0	325.0					14																	24663958		2203	4300	6503	SO:0001583	missense	10548				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		g.chr14:24663958C>T	U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926			11864	protein-coding gene	gene with protein product						9332367	Standard	NM_006405		Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000261789.4:c.268G>A	14.37:g.24663958C>T	ENSP00000261789:p.Glu90Lys					TM9SF1_ENST00000524835.1_Missense_Mutation_p.E3K|TM9SF1_ENST00000396854.4_Missense_Mutation_p.E90K|TM9SF1_ENST00000528669.1_Missense_Mutation_p.E90K|TM9SF1_ENST00000556387.1_Missense_Mutation_p.E299K|TM9SF1_ENST00000261789.4_Missense_Mutation_p.E90K	p.E299K			O15321	TM9S1_HUMAN		GBM - Glioblastoma multiforme(265;0.0183)	6	928	-			90					D3DS65|Q86SZ6|Q96FI8	Missense_Mutation	SNP	ENST00000261789.4	37	c.895G>A	CCDS9617.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.879644	0.51801	.	.	ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000254692	ENST00000261789;ENST00000528669;ENST00000556387;ENST00000524835;ENST00000396854;ENST00000528895;ENST00000530563;ENST00000530468;ENST00000525592;ENST00000528010;ENST00000530611	T;T;T;T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.17	5.17	0.71159	.	0.064020	0.64402	D	0.000013	T	0.35998	0.0951	L	0.38838	1.175	0.45118	D	0.998131	B;B	0.21753	0.06;0.009	B;B	0.25987	0.065;0.021	T	0.08534	-1.0717	10	0.23891	T	0.37	-10.8951	16.2171	0.82237	0.0:1.0:0.0:0.0	.	90;90	Q86SZ6;O15321	.;TM9S1_HUMAN	K	90;90;299;3;90;90;3;90;90;90;299	ENSP00000261789:E90K;ENSP00000432997:E90K;ENSP00000451949:E299K;ENSP00000434387:E3K;ENSP00000380063:E90K;ENSP00000431447:E90K;ENSP00000437127:E3K;ENSP00000435857:E90K;ENSP00000432435:E90K;ENSP00000433792:E90K;ENSP00000433967:E299K	ENSP00000433967:E299K	E	-	1	0	TM9SF1;RP11-468E2.1	23733798	0.993000	0.37304	0.960000	0.40013	0.997000	0.91878	3.134000	0.50538	2.700000	0.92200	0.563000	0.77884	GAG		0.507	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073136.2	NM_006405		174	297	0	0	0	1	0	174	297				
KMT2C	58508	broad.mit.edu	37	7	151896385	151896385	+	Missense_Mutation	SNP	G	G	C	rs375541673		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:151896385G>C	ENST00000262189.6	-	27	4470	c.4252C>G	c.(4252-4254)Cca>Gca	p.P1418A	KMT2C_ENST00000355193.2_Missense_Mutation_p.P1418A	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1418					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GATTTTGTTGGAGCCGAGGAT	0.333																																						ENST00000355193.2																			0											c.(4252-4254)Cca>Gca		lysine (K)-specific methyltransferase 2C							70.0	70.0	70.0					7																	151896385		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151896385G>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.4252C>G	7.37:g.151896385G>C	ENSP00000262189:p.Pro1418Ala					KMT2C_ENST00000262189.6_Missense_Mutation_p.P1418A	p.P1418A							27	4470	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.4252C>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	7.983	0.751624	0.15778	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84298	-1.83;-1.83	5.35	3.53	0.40419	.	0.150030	0.30565	N	0.009341	T	0.76709	0.4025	L	0.48362	1.52	0.80722	D	1	P;B	0.35745	0.518;0.131	B;B	0.31245	0.126;0.055	T	0.69975	-0.4999	10	0.32370	T	0.25	.	8.4754	0.33009	0.2389:0.0:0.7611:0.0	.	1418;479	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	A	1418	ENSP00000262189:P1418A;ENSP00000347325:P1418A	ENSP00000262189:P1418A	P	-	1	0	MLL3	151527318	1.000000	0.71417	0.683000	0.30040	0.512000	0.34134	2.647000	0.46639	0.628000	0.30357	0.650000	0.86243	CCA		0.333	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			21	58	0	0	0	1	0	21	58				
PCDHB15	56121	broad.mit.edu	37	5	140626472	140626472	+	Silent	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:140626472G>A	ENST00000231173.3	+	1	1326	c.1326G>A	c.(1324-1326)tcG>tcA	p.S442S		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	442	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTGGTGTCGGACGTCAATG	0.587																																						ENST00000231173.3																			0				NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(1324-1326)tcG>tcA									117.0	110.0	112.0					5																	140626472		2203	4300	6503	SO:0001819	synonymous_variant	56121				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140626472G>A	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1326G>A	5.37:g.140626472G>A							p.S442S	NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1326	+			442			Cadherin 4.		Q8IUX5	Silent	SNP	ENST00000231173.3	37	c.1326G>A	CCDS4257.1																																																																																				0.587	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		45	77	0	0	0	1	0	45	77				
IRS2	8660	broad.mit.edu	37	13	110438062	110438062	+	Missense_Mutation	SNP	G	G	C	rs569892769		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr13:110438062G>C	ENST00000375856.3	-	1	853	c.339C>G	c.(337-339)atC>atG	p.I113M		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	113	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			TGTAGAGGGCGATCAGGTACT	0.647																																					Melanoma(100;613 2409 40847)	ENST00000375856.3																			0				kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19						c.(337-339)atC>atG		insulin receptor substrate 2							36.0	26.0	29.0					13																	110438062		2199	4297	6496	SO:0001583	missense	8660				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	g.chr13:110438062G>C	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"""Pleckstrin homology (PH) domain containing"""	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.339C>G	13.37:g.110438062G>C	ENSP00000365016:p.Ile113Met						p.I113M	NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		1	853	-	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	113			PH.		Q96RR2|Q9BZG0|Q9Y6I5	Missense_Mutation	SNP	ENST00000375856.3	37	c.339C>G	CCDS9510.1	.	.	.	.	.	.	.	.	.	.	g	15.72	2.918138	0.52546	.	.	ENSG00000185950	ENST00000375856	T	0.73469	-0.75	3.33	3.33	0.38152	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.071468	0.52532	U	0.000065	T	0.81669	0.4871	M	0.75884	2.315	0.39470	D	0.9677	D	0.76494	0.999	D	0.76575	0.988	T	0.82047	-0.0651	10	0.62326	D	0.03	.	4.8197	0.13385	0.1235:0.2243:0.6522:0.0	.	113	Q9Y4H2	IRS2_HUMAN	M	113	ENSP00000365016:I113M	ENSP00000365016:I113M	I	-	3	3	IRS2	109236063	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.758000	0.26447	1.742000	0.51746	0.479000	0.44913	ATC		0.647	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749		7	18	0	0	0	1	0	7	18				
VAV1	7409	broad.mit.edu	37	19	6828659	6828659	+	Silent	SNP	C	C	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:6828659C>G	ENST00000602142.1	+	12	1201	c.1119C>G	c.(1117-1119)gtC>gtG	p.V373V	VAV1_ENST00000596764.1_Silent_p.V341V|VAV1_ENST00000539284.1_Silent_p.V276V|VAV1_ENST00000304076.2_Silent_p.V373V|VAV1_ENST00000599806.1_Silent_p.V318V	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	373	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TGAACGAGGTCAAGCGAGACA	0.637																																						ENST00000304076.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(1117-1119)gtC>gtG		vav 1 guanine nucleotide exchange factor							130.0	131.0	131.0					19																	6828659		2203	4300	6503	SO:0001819	synonymous_variant	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6828659C>G		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1119C>G	19.37:g.6828659C>G						VAV1_ENST00000599806.1_Silent_p.V318V|VAV1_ENST00000602142.1_Silent_p.V373V|VAV1_ENST00000596764.1_Silent_p.V341V|VAV1_ENST00000539284.1_Silent_p.V276V	p.V373V	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			12	1213	+			373			DH.		B4DVK9|M0QXX6|Q15860	Silent	SNP	ENST00000602142.1	37	c.1119C>G	CCDS12174.1																																																																																				0.637	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			35	306	0	0	0	1	0	35	306				
OR1M1	125963	broad.mit.edu	37	19	9204176	9204176	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:9204176C>T	ENST00000429566.3	+	1	322	c.256C>T	c.(256-258)Caa>Taa	p.Q86*		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GGTGAGCCTTCAAACCGGGAG	0.537																																						ENST00000429566.3																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(256-258)Caa>Taa		olfactory receptor, family 1, subfamily M, member 1							95.0	66.0	76.0					19																	9204176		2203	4300	6503	SO:0001587	stop_gained	125963				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9204176C>T		CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.256C>T	19.37:g.9204176C>T	ENSP00000401966:p.Gln86*						p.Q86*	NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN			1	322	+			86					B9EHA6|Q6IFJ3|Q96R91	Nonsense_Mutation	SNP	ENST00000429566.3	37	c.256C>T	CCDS32896.1	.	.	.	.	.	.	.	.	.	.	c	10.46	1.356905	0.24598	.	.	ENSG00000170929	ENST00000305465;ENST00000429566	.	.	.	3.49	2.42	0.29668	.	0.000000	0.53938	D	0.000051	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	10.0355	0.42127	0.0:0.7931:0.2068:0.0	.	.	.	.	X	89;86	.	ENSP00000303195:Q89X	Q	+	1	0	OR1M1	9065176	0.000000	0.05858	0.552000	0.28243	0.026000	0.11368	-1.661000	0.01972	0.777000	0.33496	0.400000	0.26472	CAA		0.537	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1			34	214	0	0	0	1	0	34	214				
COL19A1	1310	broad.mit.edu	37	6	70840095	70840095	+	Missense_Mutation	SNP	G	G	A	rs187031631	byFrequency	TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr6:70840095G>A	ENST00000322773.4	+	18	1465	c.1363G>A	c.(1363-1365)Gga>Aga	p.G455R	COL19A1_ENST00000393344.1_Missense_Mutation_p.G77R	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	455	Triple-helical region 3 (COL3).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ACATGAAGCTGGAGGCCTGAA	0.383													G|||	2	0.000399361	0.0	0.0014	5008	,	,		17321	0.001		0.0	False		,,,				2504	0.0					ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(1363-1365)Gga>Aga		collagen, type XIX, alpha 1							75.0	79.0	78.0					6																	70840095		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70840095G>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1363G>A	6.37:g.70840095G>A	ENSP00000316030:p.Gly455Arg					COL19A1_ENST00000393344.1_Missense_Mutation_p.G77R	p.G455R	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			18	1465	+			455			Triple-helical region 3 (COL3).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.1363G>A	CCDS4970.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	3.350	-0.132779	0.06711	.	.	ENSG00000082293	ENST00000322773;ENST00000393344;ENST00000455415	T;T;T	0.39406	1.08;1.08;1.08	3.59	-1.6	0.08426	.	0.964628	0.08566	N	0.926768	T	0.05135	0.0137	N	0.03071	-0.42	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.36335	-0.9752	10	0.30854	T	0.27	.	4.0964	0.09993	0.4685:0.1835:0.348:0.0	.	455	Q14993	COJA1_HUMAN	R	455;77;29	ENSP00000316030:G455R;ENSP00000377013:G77R;ENSP00000416556:G29R	ENSP00000316030:G455R	G	+	1	0	COL19A1	70896816	0.807000	0.29009	0.000000	0.03702	0.076000	0.17211	-0.197000	0.09518	-0.373000	0.07979	-0.229000	0.12294	GGA		0.383	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			5	55	0	0	0	1	0	5	55				
GATAD2B	57459	broad.mit.edu	37	1	153785835	153785835	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:153785835C>T	ENST00000368655.4	-	8	1553	c.1310G>A	c.(1309-1311)gGt>gAt	p.G437D		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	437	CR2; histone tail-binding.				ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TAGAATCTTACCATTCTTTTC	0.468																																						ENST00000368655.4																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38						c.(1309-1311)gGt>gAt		GATA zinc finger domain containing 2B							166.0	143.0	150.0					1																	153785835		2203	4300	6503	SO:0001583	missense	57459					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:153785835C>T	AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"""GATA zinc finger domain containing"""	30778	protein-coding gene	gene with protein product	"""transcription repressor p66 beta component of the MeCP1 complex"""	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.1310G>A	1.37:g.153785835C>T	ENSP00000357644:p.Gly437Asp						p.G437D	NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		8	1553	-	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		437			CR2.		D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Missense_Mutation	SNP	ENST00000368655.4	37	c.1310G>A	CCDS1054.1	.	.	.	.	.	.	.	.	.	.	C	32	5.165186	0.94768	.	.	ENSG00000143614	ENST00000368655	D	0.99815	-6.9	5.19	5.19	0.71726	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (2);	0.000000	0.85682	D	0.000000	D	0.99802	0.9915	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97483	1.0048	10	0.49607	T	0.09	.	17.6428	0.88141	0.0:1.0:0.0:0.0	.	437	Q8WXI9	P66B_HUMAN	D	437	ENSP00000357644:G437D	ENSP00000357644:G437D	G	-	2	0	GATAD2B	152052459	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.908000	0.69916	2.709000	0.92574	0.655000	0.94253	GGT		0.468	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	NM_020699		41	103	0	0	0	1	0	41	103				
HNF4A	3172	broad.mit.edu	37	20	43030051	43030051	+	Silent	SNP	C	C	T	rs373591956		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr20:43030051C>T	ENST00000316099.4	+	1	128	c.39C>T	c.(37-39)gcC>gcT	p.A13A	HNF4A_ENST00000316673.4_Intron|HNF4A_ENST00000443598.2_Silent_p.A13A|HNF4A_ENST00000457232.1_Intron|HNF4A_ENST00000609795.1_Intron|HNF4A_ENST00000415691.2_Silent_p.A13A	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	13					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TGGACATGGCCGACTACAGTG	0.637																																					Colon(79;2 1269 8820 14841 52347)	ENST00000316099.3																			0				endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34						c.(37-39)gcC>gcT		hepatocyte nuclear factor 4, alpha							172.0	133.0	146.0					20																	43030051		2203	4300	6503	SO:0001819	synonymous_variant	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43030051C>T	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.39C>T	20.37:g.43030051C>T						HNF4A_ENST00000443598.2_Silent_p.A13A|HNF4A_ENST00000415691.1_Silent_p.A13A|HNF4A_ENST00000457232.1_Intron	p.A13A	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		1	128	+		Myeloproliferative disorder(115;0.0122)	13					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Silent	SNP	ENST00000316099.4	37	c.39C>T	CCDS13330.1																																																																																				0.637	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			31	93	0	0	0	1	0	31	93				
MAST3	23031	broad.mit.edu	37	19	18252811	18252811	+	Silent	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:18252811G>A	ENST00000262811.6	+	20	2238	c.2238G>A	c.(2236-2238)ctG>ctA	p.L746L	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	746							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GCCGCCGGCTGAGTGCTGACA	0.597																																						ENST00000262811.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						c.(2236-2238)ctG>ctA		microtubule associated serine/threonine kinase 3							25.0	30.0	28.0					19																	18252811		2146	4270	6416	SO:0001819	synonymous_variant	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18252811G>A	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2238G>A	19.37:g.18252811G>A							p.L746L	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN			20	2238	+			746					Q7LDZ8|Q9UPI0	Silent	SNP	ENST00000262811.6	37	c.2238G>A	CCDS46014.1																																																																																				0.597	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		4	16	0	0	0	1	0	4	16				
ARNTL2	56938	broad.mit.edu	37	12	27553552	27553552	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:27553552C>A	ENST00000266503.5	+	10	1023	c.1005C>A	c.(1003-1005)aaC>aaA	p.N335K	ARNTL2_ENST00000395901.2_Missense_Mutation_p.N298K|ARNTL2_ENST00000311001.5_Missense_Mutation_p.N321K|ARNTL2_ENST00000542388.1_Missense_Mutation_p.N250K|ARNTL2_ENST00000544915.1_Missense_Mutation_p.N301K|ARNTL2_ENST00000546179.1_Missense_Mutation_p.N298K|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000261178.5_Missense_Mutation_p.N287K			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	335					circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					AAGAAAGGAACAGTAAGAAAG	0.373																																						ENST00000544915.1																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(901-903)aaC>aaA		aryl hydrocarbon receptor nuclear translocator-like 2							103.0	105.0	105.0					12																	27553552		2203	4300	6503	SO:0001583	missense	56938				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:27553552C>A	AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"""Basic helix-loop-helix proteins"""	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.1005C>A	12.37:g.27553552C>A	ENSP00000266503:p.Asn335Lys					ARNTL2_ENST00000261178.5_Missense_Mutation_p.N287K|ARNTL2_ENST00000266503.5_Missense_Mutation_p.N335K|ARNTL2_ENST00000311001.5_Missense_Mutation_p.N321K|ARNTL2_ENST00000395901.2_Missense_Mutation_p.N298K|ARNTL2_ENST00000542388.1_Missense_Mutation_p.N250K|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000546179.1_Missense_Mutation_p.N298K	p.N301K	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN			9	1122	+	Colorectal(261;0.0847)|Lung SC(9;0.184)		335					B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Missense_Mutation	SNP	ENST00000266503.5	37	c.903C>A	CCDS8712.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.958|9.958	1.222130|1.222130	0.22457|0.22457	.|.	.|.	ENSG00000029153|ENSG00000029153	ENST00000544915;ENST00000395901;ENST00000546179;ENST00000311001;ENST00000261178;ENST00000266503;ENST00000542388|ENST00000457040	T;T;T;T;T;T;T|.	0.06142|.	3.5;3.49;3.34;3.49;3.49;3.49;3.5|.	3.87|3.87	-1.49|-1.49	0.08718|0.08718	.|.	0.581525|.	0.18022|.	N|.	0.154215|.	T|T	0.15132|0.15132	0.0365|0.0365	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	0.999999|0.999999	B;B;B;B;B;B|.	0.24963|.	0.115;0.007;0.017;0.017;0.067;0.009|.	B;B;B;B;B;B|.	0.23716|.	0.043;0.043;0.043;0.043;0.048;0.028|.	T|T	0.22871|0.22871	-1.0204|-1.0204	10|5	0.27785|.	T|.	0.31|.	.|.	0.2142|0.2142	0.00160|0.00160	0.2785:0.1682:0.2757:0.2776|0.2785:0.1682:0.2757:0.2776	.|.	298;301;298;287;321;335|.	F5H402;Q8WYA1-5;Q8WYA1-3;Q8WYA1-4;Q8WYA1-2;Q8WYA1|.	.;.;.;.;.;BMAL2_HUMAN|.	K|K	301;298;298;321;287;335;250|287	ENSP00000442438:N301K;ENSP00000379238:N298K;ENSP00000438545:N298K;ENSP00000312247:N321K;ENSP00000261178:N287K;ENSP00000266503:N335K;ENSP00000445836:N250K|.	ENSP00000261178:N287K|.	N|T	+|+	3|2	2|0	ARNTL2|ARNTL2	27444819|27444819	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.861000|0.861000	0.49209|0.49209	-0.934000|-0.934000	0.03955|0.03955	-0.075000|-0.075000	0.12798|0.12798	0.655000|0.655000	0.94253|0.94253	AAC|ACA		0.373	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1	NM_020183		3	99	1	0	0.004672	1	0.00474322	3	99				
PPP1R21	129285	broad.mit.edu	37	2	48681851	48681851	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr2:48681851C>T	ENST00000294952.8	+	3	401	c.244C>T	c.(244-246)Cta>Tta	p.L82L	PPP1R21_ENST00000281394.4_Silent_p.L82L|PPP1R21_ENST00000449090.2_Silent_p.L82L	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	82						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						TGAACTAGCTCTAAGTGAACC	0.428																																						ENST00000294952.8																			0				endometrium(2)|kidney(4)|lung(9)	15						c.(244-246)Cta>Tta		protein phosphatase 1, regulatory subunit 21							95.0	87.0	90.0					2																	48681851		2203	4300	6503	SO:0001819	synonymous_variant	129285							g.chr2:48681851C>T	AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.244C>T	2.37:g.48681851C>T						PPP1R21_ENST00000281394.4_Silent_p.L82L|PPP1R21_ENST00000449090.2_Silent_p.L82L	p.L82L	NM_001135629.2	NP_001129101.1	Q6ZMI0	KLRAQ_HUMAN			3	401	+			82					B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Silent	SNP	ENST00000294952.8	37	c.244C>T	CCDS46278.1																																																																																				0.428	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	NM_152994		33	43	0	0	0	1	0	33	43				
SYMPK	8189	broad.mit.edu	37	19	46319745	46319745	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:46319745C>G	ENST00000245934.7	-	25	3593	c.3349G>C	c.(3349-3351)Gag>Cag	p.E1117Q	RSPH6A_ENST00000221538.3_5'Flank|SYMPK_ENST00000598155.1_5'UTR|RSPH6A_ENST00000597055.1_5'Flank	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1117					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CTCACCTCCTCCAAGGGCCCC	0.657																																						ENST00000245934.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45						c.(3349-3351)Gag>Cag		symplekin							21.0	23.0	22.0					19																	46319745		2203	4299	6502	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46319745C>G	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.3349G>C	19.37:g.46319745C>G	ENSP00000245934:p.Glu1117Gln					SYMPK_ENST00000598155.1_5'UTR	p.E1117Q	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	25	3593	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	1117					O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.3349G>C	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	C	16.45	3.127405	0.56721	.	.	ENSG00000125755	ENST00000245934	.	.	.	4.38	4.38	0.52667	.	0.067831	0.56097	D	0.000029	T	0.29491	0.0735	N	0.24115	0.695	0.47949	D	0.999554	P	0.43750	0.816	B	0.34180	0.177	T	0.11916	-1.0568	9	0.38643	T	0.18	.	12.3463	0.55122	0.0:1.0:0.0:0.0	.	1117	Q92797	SYMPK_HUMAN	Q	1117	.	ENSP00000245934:E1117Q	E	-	1	0	SYMPK	51011585	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	1.867000	0.39499	2.278000	0.76064	0.543000	0.68304	GAG		0.657	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		9	28	0	0	0	1	0	9	28				
MAGI3	260425	broad.mit.edu	37	1	114193781	114193781	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:114193781G>A	ENST00000307546.9	+	14	2468	c.2393G>A	c.(2392-2394)cGa>cAa	p.R798Q	MAGI3_ENST00000369617.4_Missense_Mutation_p.R823Q|MAGI3_ENST00000369611.4_Missense_Mutation_p.R798Q|MAGI3_ENST00000369615.1_Missense_Mutation_p.R798Q	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	823	Interaction with BAI1.|PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTGCTGCTCGAAATGGCCAT	0.433																																						ENST00000369615.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(2392-2394)cGa>cAa		membrane associated guanylate kinase, WW and PDZ domain containing 3							132.0	121.0	125.0					1																	114193781		2203	4300	6503	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114193781G>A	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.2393G>A	1.37:g.114193781G>A	ENSP00000304604:p.Arg798Gln					MAGI3_ENST00000369611.4_Missense_Mutation_p.R798Q|MAGI3_ENST00000369617.4_Missense_Mutation_p.R823Q|MAGI3_ENST00000307546.9_Missense_Mutation_p.R798Q	p.R798Q	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	14	2455	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	823			Interaction with BAI1.|PDZ 4.		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.2393G>A	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	G	34	5.381943	0.95967	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.35885	0.0947	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.97;1.0	T	0.04693	-1.0933	10	0.49607	T	0.09	-1.5788	19.9145	0.97053	0.0:0.0:1.0:0.0	.	798;798;823	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	Q	823;798;798;798	ENSP00000358630:R823Q;ENSP00000304604:R798Q;ENSP00000358628:R798Q;ENSP00000358624:R798Q	ENSP00000304604:R798Q	R	+	2	0	MAGI3	113995304	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.476000	0.97823	2.709000	0.92574	0.655000	0.94253	CGA		0.433	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		24	83	0	0	0	1	0	24	83				
RNF213	57674	broad.mit.edu	37	17	78320969	78320969	+	Missense_Mutation	SNP	G	G	A	rs76918558		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr17:78320969G>A	ENST00000582970.1	+	29	8977	c.8834G>A	c.(8833-8835)cGc>cAc	p.R2945H	RNF213_ENST00000508628.2_Missense_Mutation_p.R2994H|RNF213_ENST00000336301.6_Missense_Mutation_p.R1018H	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2945					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTGTGTAAGCGCCAGGACAAG	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		20774	0.001		0.0	False		,,,				2504	0.0					ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(8833-8835)cGc>cAc		ring finger protein 213							48.0	38.0	42.0					17																	78320969		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78320969G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.8834G>A	17.37:g.78320969G>A	ENSP00000464087:p.Arg2945His					RNF213_ENST00000336301.6_Missense_Mutation_p.R1018H|RNF213_ENST00000508628.2_Missense_Mutation_p.R2994H	p.R2945H	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		29	8977	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.8834G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	4.920	0.171040	0.09391	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T;T	0.59083	0.29;1.91	5.82	-11.6	0.00059	.	2.299150	0.01130	N	0.005963	T	0.24812	0.0602	N	0.08118	0	0.09310	N	1	B	0.27882	0.192	B	0.11329	0.006	T	0.19257	-1.0311	10	0.40728	T	0.16	.	0.8571	0.01185	0.3302:0.2684:0.2067:0.1948	.	1018	Q63HN8	RN213_HUMAN	H	2945;2994;1018	ENSP00000425956:R2945H;ENSP00000338218:R1018H	ENSP00000338218:R1018H	R	+	2	0	RNF213	75935564	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-1.973000	0.01500	-2.041000	0.00915	-1.119000	0.02030	CGC		0.532	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		6	17	0	0	0	1	0	6	17				
ARHGAP21	57584	broad.mit.edu	37	10	24896476	24896476	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr10:24896476G>C	ENST00000396432.2	-	11	3122	c.2636C>G	c.(2635-2637)tCa>tGa	p.S879*	ARHGAP21_ENST00000320481.6_Nonsense_Mutation_p.S666*|ARHGAP21_ENST00000493154.1_5'UTR	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	878					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ATATGATTTTGATCTTTCTGT	0.383																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(2635-2637)tCa>tGa		Rho GTPase activating protein 21							107.0	107.0	107.0					10																	24896476		2203	4300	6503	SO:0001587	stop_gained	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24896476G>C	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.2636C>G	10.37:g.24896476G>C	ENSP00000379709:p.Ser879*					ARHGAP21_ENST00000493154.1_5'UTR|ARHGAP21_ENST00000320481.6_Nonsense_Mutation_p.S666*	p.S879*	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			11	3122	-			878					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Nonsense_Mutation	SNP	ENST00000396432.2	37	c.2636C>G	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	44	11.117300	0.99518	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	15.2081	0.73195	0.0692:0.0:0.9307:0.0	.	.	.	.	X	879;666;869;879;714	.	ENSP00000365604:S666X	S	-	2	0	ARHGAP21	24936482	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.597000	0.82733	2.820000	0.97059	0.650000	0.86243	TCA		0.383	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		44	78	0	0	0	1	0	44	78				
AP1G1	164	broad.mit.edu	37	16	71798596	71798596	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr16:71798596G>A	ENST00000299980.4	-	8	1213	c.772C>T	c.(772-774)Cga>Tga	p.R258*	AP1G1_ENST00000433195.2_Nonsense_Mutation_p.R281*|AP1G1_ENST00000423132.2_Nonsense_Mutation_p.R261*|AP1G1_ENST00000393512.3_Nonsense_Mutation_p.R261*|AP1G1_ENST00000569748.1_Nonsense_Mutation_p.R258*	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	258					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)	p.R258*(1)		breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TCATCATTTCGTCCTAAAATT	0.328																																						ENST00000299980.4																			1	Substitution - Nonsense(1)	p.R258*(1)	ovary(1)	breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28						c.(772-774)Cga>Tga		adaptor-related protein complex 1, gamma 1 subunit							82.0	83.0	83.0					16																	71798596		2198	4299	6497	SO:0001587	stop_gained	164				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	g.chr16:71798596G>A	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.772C>T	16.37:g.71798596G>A	ENSP00000299980:p.Arg258*					AP1G1_ENST00000569748.1_Nonsense_Mutation_p.R258*|AP1G1_ENST00000433195.2_Nonsense_Mutation_p.R281*|AP1G1_ENST00000423132.2_Nonsense_Mutation_p.R261*|AP1G1_ENST00000393512.3_Nonsense_Mutation_p.R261*	p.R258*	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN			8	1213	-		Ovarian(137;0.125)	258					O75709|O75842|Q9UG09|Q9Y3U4	Nonsense_Mutation	SNP	ENST00000299980.4	37	c.772C>T	CCDS32480.1	.	.	.	.	.	.	.	.	.	.	G	46	12.766361	0.99694	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195;ENST00000538574;ENST00000425422	.	.	.	5.67	4.7	0.59300	.	0.111009	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-5.9345	13.7352	0.62813	0.0:0.0:0.6039:0.3961	.	.	.	.	X	258;261;261;281;129;343	.	ENSP00000299980:R258X	R	-	1	2	AP1G1	70356097	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.657000	0.61490	1.349000	0.45751	0.655000	0.94253	CGA		0.328	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			17	38	0	0	0	1	0	17	38				
KIAA1755	85449	broad.mit.edu	37	20	36874362	36874362	+	Missense_Mutation	SNP	C	C	A	rs376413430		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr20:36874362C>A	ENST00000279024.4	-	2	441	c.170G>T	c.(169-171)cGc>cTc	p.R57L		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	57										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CTCACACAGGCGCTTGGCAGG	0.587																																						ENST00000279024.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(169-171)cGc>cTc		KIAA1755							71.0	62.0	65.0					20																	36874362		2203	4300	6503	SO:0001583	missense	85449							g.chr20:36874362C>A	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.170G>T	20.37:g.36874362C>A	ENSP00000279024:p.Arg57Leu						p.R57L	NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN			2	441	-		Myeloproliferative disorder(115;0.00874)	57					Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	c.170G>T	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793549	0.90453	.	.	ENSG00000149633	ENST00000279024	T	0.07800	3.16	5.51	5.51	0.81932	.	0.000000	0.49916	D	0.000131	T	0.31389	0.0795	M	0.74258	2.255	0.44985	D	0.998007	D	0.89917	1.0	D	0.77557	0.99	T	0.00936	-1.1508	10	0.72032	D	0.01	.	18.7737	0.91901	0.0:1.0:0.0:0.0	.	57	Q5JYT7	K1755_HUMAN	L	57	ENSP00000279024:R57L	ENSP00000279024:R57L	R	-	2	0	KIAA1755	36307776	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.861000	0.62969	2.746000	0.94184	0.655000	0.94253	CGC		0.587	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		3	93	1	0	1	1	1	3	93				
C9orf84	158401	broad.mit.edu	37	9	114454011	114454011	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:114454011C>T	ENST00000318737.4	-	25	4182	c.4054G>A	c.(4054-4056)Gag>Aag	p.E1352K	C9orf84_ENST00000394777.4_Missense_Mutation_p.E1278K|C9orf84_ENST00000394779.3_Missense_Mutation_p.E1313K|C9orf84_ENST00000374287.3_Missense_Mutation_p.E1352K	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1352										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CAGAAAGTCTCATCTTTTGAA	0.348																																						ENST00000394779.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(3937-3939)Gag>Aag		chromosome 9 open reading frame 84							71.0	73.0	72.0					9																	114454011		2203	4300	6503	SO:0001583	missense	158401							g.chr9:114454011C>T	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.4054G>A	9.37:g.114454011C>T	ENSP00000322108:p.Glu1352Lys					C9orf84_ENST00000374287.3_Missense_Mutation_p.E1352K|C9orf84_ENST00000394777.4_Missense_Mutation_p.E1278K|C9orf84_ENST00000318737.4_Missense_Mutation_p.E1352K	p.E1313K	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN			23	4181	-			1352					A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	c.3937G>A	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	C	8.544	0.873887	0.17395	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.04809	3.55;3.58;3.56;3.56	5.27	3.37	0.38596	.	1.456470	0.04045	N	0.303756	T	0.04092	0.0114	N	0.17082	0.46	0.09310	N	1	B;B;B	0.13145	0.007;0.007;0.007	B;B;B	0.12156	0.007;0.007;0.007	T	0.36841	-0.9731	10	0.22109	T	0.4	3.2345	6.8778	0.24156	0.0:0.6591:0.2429:0.098	.	1278;1352;1313	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	K	1313;1278;966;1352;1352	ENSP00000378259:E1313K;ENSP00000378257:E1278K;ENSP00000363405:E1352K;ENSP00000322108:E1352K	ENSP00000322108:E1352K	E	-	1	0	C9orf84	113493832	0.242000	0.23868	0.063000	0.19743	0.739000	0.42172	2.016000	0.40971	1.467000	0.48044	0.467000	0.42956	GAG		0.348	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		38	110	0	0	0	1	0	38	110				
FLT1	2321	broad.mit.edu	37	13	29008329	29008329	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr13:29008329C>G	ENST00000282397.4	-	5	793	c.542G>C	c.(541-543)gGa>gCa	p.G181A	FLT1_ENST00000539099.1_Missense_Mutation_p.G181A|FLT1_ENST00000541932.1_Missense_Mutation_p.G181A	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	181	Ig-like C2-type 2.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TATGCGTTTTCCATCAGGGAT	0.428																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(541-543)gGa>gCa		fms-related tyrosine kinase 1	Sunitinib(DB01268)						138.0	114.0	122.0					13																	29008329		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:29008329C>G	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.542G>C	13.37:g.29008329C>G	ENSP00000282397:p.Gly181Ala					FLT1_ENST00000541932.1_Missense_Mutation_p.G181A|FLT1_ENST00000539099.1_Missense_Mutation_p.G181A	p.G181A	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	5	793	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	181			Ig-like C2-type 2.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.542G>C	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.930673	0.52866	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000539099	T;T;T	0.57273	0.41;0.41;0.41	5.78	5.78	0.91487	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.130768	0.52532	D	0.000080	T	0.75635	0.3876	M	0.82716	2.605	0.48830	D	0.999715	P;P;P;D	0.67145	0.955;0.955;0.914;0.996	P;P;P;D	0.67382	0.702;0.702;0.702;0.951	T	0.77302	-0.2638	10	0.59425	D	0.04	.	20.0118	0.97458	0.0:1.0:0.0:0.0	.	181;181;181;181	P17948-4;P17948-3;P17948-2;P17948	.;.;.;VGFR1_HUMAN	A	181	ENSP00000282397:G181A;ENSP00000437631:G181A;ENSP00000442630:G181A	ENSP00000282397:G181A	G	-	2	0	FLT1	27906329	0.999000	0.42202	0.785000	0.31869	0.198000	0.23893	3.968000	0.56809	2.742000	0.94016	0.650000	0.86243	GGA		0.428	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			19	76	0	0	0	1	0	19	76				
TTC21B	79809	broad.mit.edu	37	2	166758288	166758288	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr2:166758288C>T	ENST00000243344.7	-	20	2838	c.2701G>A	c.(2701-2703)Gaa>Aaa	p.E901K		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	901					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						ATTGCTTTTTCATAGTCTCGC	0.368																																						ENST00000243344.7																			0				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						c.(2701-2703)Gaa>Aaa		tetratricopeptide repeat domain 21B							58.0	59.0	59.0					2																	166758288		2203	4300	6503	SO:0001583	missense	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166758288C>T	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.2701G>A	2.37:g.166758288C>T	ENSP00000243344:p.Glu901Lys						p.E901K	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN			20	2838	-			901					A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.2701G>A	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	C	36	5.649841	0.96714	.	.	ENSG00000123607	ENST00000243344	T	0.55234	0.53	5.7	5.7	0.88788	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.64962	0.2646	L	0.50333	1.59	0.80722	D	1	D	0.59767	0.986	P	0.58721	0.844	T	0.60000	-0.7348	10	0.35671	T	0.21	-26.5222	19.8381	0.96666	0.0:1.0:0.0:0.0	.	901	Q7Z4L5	TT21B_HUMAN	K	901	ENSP00000243344:E901K	ENSP00000243344:E901K	E	-	1	0	TTC21B	166466534	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.809000	0.86057	2.692000	0.91855	0.650000	0.86243	GAA		0.368	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		23	37	0	0	0	1	0	23	37				
FAM117A	81558	broad.mit.edu	37	17	47797228	47797228	+	Missense_Mutation	SNP	G	G	A	rs368403545		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr17:47797228G>A	ENST00000240364.2	-	5	681	c.602C>T	c.(601-603)tCc>tTc	p.S201F	FAM117A_ENST00000514018.1_5'UTR|RP11-613C6.2_ENST00000512720.1_RNA|FAM117A_ENST00000513602.1_5'UTR	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	201										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						CAAGACAGGGGACCCTGAGGG	0.587																																						ENST00000240364.2																			0				haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						c.(601-603)tCc>tTc		family with sequence similarity 117, member A		A	PHE/SER	0,4406		0,0,2203	43.0	47.0	46.0		602	3.9	1.0	17		46	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM117A	NM_030802.3	155	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	201/454	47797228	1,13005	2203	4300	6503	SO:0001583	missense	81558							g.chr17:47797228G>A	BC037572	CCDS11553.1	17q21.33	2006-04-26				ENSG00000121104			24179	protein-coding gene	gene with protein product	"""C/EBP induced protein"""					12477932	Standard	NM_030802		Approved		uc002ipk.3	Q9C073		ENST00000240364.2:c.602C>T	17.37:g.47797228G>A	ENSP00000240364:p.Ser201Phe					FAM117A_ENST00000514018.1_5'UTR|FAM117A_ENST00000513602.1_5'UTR|RP11-613C6.2_ENST00000512720.1_RNA	p.S201F	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN			5	681	-			201					B7Z7Q3	Missense_Mutation	SNP	ENST00000240364.2	37	c.602C>T	CCDS11553.1	.	.	.	.	.	.	.	.	.	.	g	16.66	3.184967	0.57909	0.0	1.16E-4	ENSG00000121104	ENST00000240364;ENST00000511743;ENST00000506156	.	.	.	4.9	3.94	0.45596	.	0.713414	0.14115	N	0.340475	T	0.47764	0.1463	L	0.29908	0.895	0.80722	D	1	P	0.49559	0.925	P	0.48141	0.568	T	0.40194	-0.9576	9	0.45353	T	0.12	-16.0939	11.6024	0.51010	0.0834:0.0:0.9166:0.0	.	201	Q9C073	F117A_HUMAN	F	201;91;169	.	ENSP00000240364:S201F	S	-	2	0	FAM117A	45152227	1.000000	0.71417	0.982000	0.44146	0.939000	0.58152	4.113000	0.57851	1.318000	0.45170	-0.221000	0.12465	TCC		0.587	FAM117A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365736.1	NM_030802		18	27	0	0	0	1	0	18	27				
KIF18A	81930	broad.mit.edu	37	11	28057782	28057782	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr11:28057782T>C	ENST00000263181.6	-	14	2668	c.2378A>G	c.(2377-2379)aAc>aGc	p.N793S		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	793					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						AATGTCTTTGTTATCATTTGG	0.318																																						ENST00000263181.6																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						c.(2377-2379)aAc>aGc		kinesin family member 18A							74.0	74.0	74.0					11																	28057782		2200	4291	6491	SO:0001583	missense	81930				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding	g.chr11:28057782T>C	AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.2378A>G	11.37:g.28057782T>C	ENSP00000263181:p.Asn793Ser						p.N793S	NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN			14	2668	-			793					Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	ENST00000263181.6	37	c.2378A>G	CCDS7867.1	.	.	.	.	.	.	.	.	.	.	T	0.868	-0.733099	0.03135	.	.	ENSG00000121621	ENST00000263181	T	0.72282	-0.64	2.97	2.97	0.34412	.	0.324006	0.35970	N	0.002877	T	0.44265	0.1285	N	0.12746	0.255	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.21690	-1.0238	10	0.07325	T	0.83	.	7.7353	0.28810	0.0:0.0:0.0:1.0	.	793	Q8NI77	KI18A_HUMAN	S	793	ENSP00000263181:N793S	ENSP00000263181:N793S	N	-	2	0	KIF18A	28014358	0.008000	0.16893	0.013000	0.15412	0.397000	0.30659	0.421000	0.21280	1.095000	0.41419	0.533000	0.62120	AAC		0.318	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217		32	40	0	0	0	1	0	32	40				
STAT1	6772	broad.mit.edu	37	2	191873691	191873691	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr2:191873691G>A	ENST00000361099.3	-	4	658	c.271C>T	c.(271-273)Cag>Tag	p.Q91*	STAT1_ENST00000540176.1_Nonsense_Mutation_p.Q91*|STAT1_ENST00000392323.2_Nonsense_Mutation_p.Q93*|STAT1_ENST00000409465.1_Nonsense_Mutation_p.Q91*|STAT1_ENST00000392322.3_Nonsense_Mutation_p.Q91*	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	91					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			GGTCATACCTGAAGATTACGC	0.368																																						ENST00000361099.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(271-273)Cag>Tag		signal transducer and activator of transcription 1, 91kDa	Fludarabine(DB01073)						79.0	72.0	74.0					2																	191873691		2203	4300	6503	SO:0001587	stop_gained	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191873691G>A		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.271C>T	2.37:g.191873691G>A	ENSP00000354394:p.Gln91*					STAT1_ENST00000409465.1_Nonsense_Mutation_p.Q91*|STAT1_ENST00000540176.1_Nonsense_Mutation_p.Q91*|STAT1_ENST00000392322.3_Nonsense_Mutation_p.Q91*|STAT1_ENST00000392323.2_Nonsense_Mutation_p.Q93*	p.Q91*	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		4	658	-			91					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Nonsense_Mutation	SNP	ENST00000361099.3	37	c.271C>T	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	G	31	5.094848	0.94197	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000540176;ENST00000392322;ENST00000392323;ENST00000424722;ENST00000454414	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-26.854	18.7673	0.91878	0.0:0.0:1.0:0.0	.	.	.	.	X	91;91;91;91;93;91;91	.	ENSP00000354394:Q91X	Q	-	1	0	STAT1	191581936	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.869000	0.99810	2.683000	0.91414	0.557000	0.71058	CAG		0.368	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		26	3	0	0	0	1	0	26	3				
HDAC9	9734	broad.mit.edu	37	7	18806740	18806740	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:18806740C>T	ENST00000432645.2	+	15	2167	c.2167C>T	c.(2167-2169)Caa>Taa	p.Q723*	HDAC9_ENST00000406451.4_Nonsense_Mutation_p.Q723*|HDAC9_ENST00000401921.1_Nonsense_Mutation_p.Q682*|HDAC9_ENST00000441542.2_Nonsense_Mutation_p.Q726*	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	723	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGATGACTCTCAAAAGTTTTT	0.264																																						ENST00000406451.3																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(2167-2169)Caa>Taa		histone deacetylase 9	Valproic Acid(DB00313)						54.0	52.0	53.0					7																	18806740		1792	4061	5853	SO:0001587	stop_gained	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18806740C>T	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2167C>T	7.37:g.18806740C>T	ENSP00000410337:p.Gln723*					HDAC9_ENST00000441542.2_Nonsense_Mutation_p.Q726*|HDAC9_ENST00000432645.2_Nonsense_Mutation_p.Q723*|HDAC9_ENST00000401921.1_Nonsense_Mutation_p.Q682*	p.Q723*	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN			16	2317	+	all_lung(11;0.187)		723			Histone deacetylase.		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Nonsense_Mutation	SNP	ENST00000432645.2	37	c.2167C>T	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	C	38	6.853949	0.97889	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	.	.	.	5.06	3.25	0.37280	.	0.435018	0.21785	N	0.069145	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-57.1769	14.4106	0.67113	0.0:0.7197:0.2803:0.0	.	.	.	.	X	723;682;723;726;635	.	ENSP00000339165:Q635X	Q	+	1	0	HDAC9	18773265	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	2.969000	0.49232	0.828000	0.34709	-0.127000	0.14921	CAA		0.264	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			5	19	0	0	0	1	0	5	19				
ZBTB48	3104	broad.mit.edu	37	1	6648997	6648997	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:6648997G>C	ENST00000377674.4	+	11	1950	c.1792G>C	c.(1792-1794)Gag>Cag	p.E598Q		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	598					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		GAGGCACATGGAGATCCACGA	0.662																																					Esophageal Squamous(125;1449 1657 4031 29866 49542)	ENST00000377674.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						c.(1792-1794)Gag>Cag		zinc finger and BTB domain containing 48							55.0	65.0	62.0					1																	6648997		2203	4300	6503	SO:0001583	missense	3104					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:6648997G>C	BC013573	CCDS84.1	1p36.3	2013-01-08	2006-09-20	2006-09-20	ENSG00000204859	ENSG00000204859		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	4930	protein-coding gene	gene with protein product		165270	"""GLI-Kruppel family member HKR3"""	HKR3		2850480, 8661141	Standard	NM_001278647		Approved	ZNF855	uc001anx.3	P10074	OTTHUMG00000001438	ENST00000377674.4:c.1792G>C	1.37:g.6648997G>C	ENSP00000366902:p.Glu598Gln						p.E598Q	NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)	11	1950	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	598					Q5SY19	Missense_Mutation	SNP	ENST00000377674.4	37	c.1792G>C	CCDS84.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697325	0.48202	.	.	ENSG00000204859	ENST00000377674	T	0.27557	1.66	5.58	5.58	0.84498	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.051544	0.85682	D	0.000000	T	0.21718	0.0523	N	0.12746	0.255	0.49798	D	0.99982	B	0.26708	0.157	B	0.20767	0.031	T	0.05733	-1.0867	10	0.62326	D	0.03	-25.6051	18.9518	0.92643	0.0:0.0:1.0:0.0	.	598	P10074	ZBT48_HUMAN	Q	598	ENSP00000366902:E598Q	ENSP00000366902:E598Q	E	+	1	0	ZBTB48	6571584	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	6.819000	0.75262	2.813000	0.96785	0.655000	0.94253	GAG		0.662	ZBTB48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004193.1	NM_005341		37	112	0	0	0	1	0	37	112				
PRKD1	5587	broad.mit.edu	37	14	30098292	30098292	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr14:30098292G>C	ENST00000331968.5	-	11	1909	c.1680C>G	c.(1678-1680)atC>atG	p.I560M	PRKD1_ENST00000415220.2_Missense_Mutation_p.I568M	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	560					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TACTCACAGAGATATCTCCTG	0.313																																						ENST00000331968.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78						c.(1678-1680)atC>atG		protein kinase D1							68.0	67.0	68.0					14																	30098292		2203	4285	6488	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30098292G>C		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1680C>G	14.37:g.30098292G>C	ENSP00000333568:p.Ile560Met					PRKD1_ENST00000415220.2_Missense_Mutation_p.I568M	p.I560M	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	11	1909	-	Hepatocellular(127;0.0604)		560					A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.1680C>G	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.284268	0.23392	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	T;T	0.66638	-0.22;-0.22	5.87	0.624	0.17659	.	0.070550	0.64402	D	0.000004	T	0.44644	0.1303	N	0.22421	0.69	0.35754	D	0.819683	B	0.18968	0.032	B	0.20184	0.028	T	0.24728	-1.0152	10	0.35671	T	0.21	-16.9864	4.2835	0.10844	0.4564:0.0:0.222:0.3216	.	560	Q15139	KPCD1_HUMAN	M	560;568	ENSP00000333568:I560M;ENSP00000390535:I568M	ENSP00000333568:I560M	I	-	3	3	PRKD1	29168043	0.998000	0.40836	0.998000	0.56505	0.852000	0.48524	0.602000	0.24134	0.211000	0.20683	-1.093000	0.02169	ATC		0.313	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		29	37	0	0	0	1	0	29	37				
CLEC6A	93978	broad.mit.edu	37	12	8618142	8618142	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:8618142G>A	ENST00000382073.3	+	4	472	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	96	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					CATTTCCAGTGAAGAGAAGGT	0.423																																						ENST00000382073.3																			0				breast(1)|large_intestine(2)|lung(7)	10						c.(286-288)Gaa>Aaa		C-type lectin domain family 6, member A							164.0	151.0	155.0					12																	8618142		2203	4300	6503	SO:0001583	missense	93978				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding	g.chr12:8618142G>A	AY321309	CCDS31739.1	12p13	2005-09-21	2005-02-09	2005-02-11	ENSG00000205846	ENSG00000205846		"""C-type lectin domain containing"""	14556	protein-coding gene	gene with protein product		613579	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 10"""	CLECSF10			Standard	NM_001007033		Approved	dectin-2	uc001qum.1	Q6EIG7	OTTHUMG00000168672	ENST00000382073.3:c.286G>A	12.37:g.8618142G>A	ENSP00000371505:p.Glu96Lys						p.E96K	NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN			4	472	+	Lung SC(5;0.184)		96			C-type lectin.		A2RUK3	Missense_Mutation	SNP	ENST00000382073.3	37	c.286G>A	CCDS31739.1	.	.	.	.	.	.	.	.	.	.	G	0.026	-1.369696	0.01225	.	.	ENSG00000205846	ENST00000382073	T	0.19105	2.17	4.09	0.0694	0.14374	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.407842	0.18112	N	0.151332	T	0.08179	0.0204	N	0.05330	-0.07	0.09310	N	1	B	0.12630	0.006	B	0.15052	0.012	T	0.28490	-1.0042	10	0.28530	T	0.3	.	4.4967	0.11840	0.2113:0.3568:0.4319:0.0	.	96	Q6EIG7	CLC6A_HUMAN	K	96	ENSP00000371505:E96K	ENSP00000371505:E96K	E	+	1	0	CLEC6A	8509409	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.163000	0.16520	0.003000	0.14656	-0.903000	0.02851	GAA		0.423	CLEC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400562.1	NM_001007033		53	73	0	0	0	1	0	53	73				
ZSCAN4	201516	broad.mit.edu	37	19	58189590	58189590	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:58189590G>T	ENST00000318203.5	+	5	1316	c.619G>T	c.(619-621)Gaa>Taa	p.E207*		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	207					telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	nuclear chromosome, telomeric region (GO:0000784)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCGAGTAAATGAAAATATTAC	0.403																																						ENST00000318203.5																			0				endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30						c.(619-621)Gaa>Taa		zinc finger and SCAN domain containing 4							64.0	63.0	64.0					19																	58189590		2203	4300	6503	SO:0001587	stop_gained	201516				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58189590G>T	AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532		"""-"", ""Zinc fingers, C2H2-type"""	23709	protein-coding gene	gene with protein product		613419	"""zinc finger protein 494"""	ZNF494			Standard	NM_152677		Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.619G>T	19.37:g.58189590G>T	ENSP00000321963:p.Glu207*						p.E207*	NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1316	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	207					Q3MIQ2	Nonsense_Mutation	SNP	ENST00000318203.5	37	c.619G>T	CCDS12958.1	.	.	.	.	.	.	.	.	.	.	G	39	7.534067	0.98342	.	.	ENSG00000180532	ENST00000318203	.	.	.	4.79	1.46	0.22682	.	1.423900	0.04330	N	0.352124	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-2.2985	7.8765	0.29597	0.2666:0.0:0.7334:0.0	.	.	.	.	X	207	.	ENSP00000321963:E207X	E	+	1	0	ZSCAN4	62881402	0.007000	0.16637	0.001000	0.08648	0.000000	0.00434	0.000000	0.12993	0.307000	0.22880	-0.794000	0.03295	GAA		0.403	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1	NM_152677		32	70	1	0	4.2108e-06	1	4.32777e-06	32	70				
HCCS	3052	broad.mit.edu	37	X	11135450	11135450	+	Missense_Mutation	SNP	G	G	C	rs144634482		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:11135450G>C	ENST00000321143.4	+	4	518	c.316G>C	c.(316-318)Gag>Cag	p.E106Q	HCCS_ENST00000380763.3_Missense_Mutation_p.E106Q|Y_RNA_ENST00000384422.1_RNA|HCCS_ENST00000380762.4_Missense_Mutation_p.E106Q	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	106					organ morphogenesis (GO:0009887)|oxidation-reduction process (GO:0055114)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	holocytochrome-c synthase activity (GO:0004408)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)	7						TGTCAGAGAAGAGTCATCCAT	0.393																																					Ovarian(86;1338 1347 1462 10340 37882)	ENST00000321143.4																			0				kidney(1)|large_intestine(3)|lung(3)	7						c.(316-318)Gag>Cag		holocytochrome c synthase		G	GLN/GLU,GLN/GLU,GLN/GLU	0,3835		0,0,1632,571	152.0	145.0	147.0		316,316,316	5.7	0.6	X	dbSNP_134	147	1,6727		0,1,2427,1872	no	missense,missense,missense	HCCS	NM_001122608.2,NM_001171991.2,NM_005333.4	29,29,29	0,1,4059,2443	CC,CG,GG,G		0.0149,0.0,0.0095	benign,benign,benign	106/269,106/269,106/269	11135450	1,10562	2203	4300	6503	SO:0001583	missense	3052				organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding	g.chrX:11135450G>C		CCDS14139.1	Xp22	2014-01-31	2010-05-11		ENSG00000004961	ENSG00000004961	4.4.1.17		4837	protein-coding gene	gene with protein product	"""cytochrome c heme-lyase"""	300056	"""holocytochrome c synthase (cytochrome c heme-lyase)"", ""microphthalamia with linear skin defects"""	MLS		8364577, 12444108	Standard	NM_001122608		Approved	CCHL	uc004cuj.3	P53701	OTTHUMG00000021128	ENST00000321143.4:c.316G>C	X.37:g.11135450G>C	ENSP00000326579:p.Glu106Gln					HCCS_ENST00000380762.4_Missense_Mutation_p.E106Q|HCCS_ENST00000380763.3_Missense_Mutation_p.E106Q	p.E106Q	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN			4	518	+			106					B3KUS1|Q502X8	Missense_Mutation	SNP	ENST00000321143.4	37	c.316G>C	CCDS14139.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.829032	0.50845	0.0	1.49E-4	ENSG00000004961	ENST00000321143;ENST00000380763;ENST00000380762	D;D;D	0.82433	-1.61;-1.61;-1.61	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.79924	0.4530	L	0.53780	1.695	0.80722	D	1	P	0.37548	0.599	B	0.38296	0.27	T	0.76724	-0.2854	10	0.16420	T	0.52	-37.7375	16.0319	0.80585	0.0:0.0:1.0:0.0	.	106	P53701	CCHL_HUMAN	Q	106	ENSP00000326579:E106Q;ENSP00000370140:E106Q;ENSP00000370139:E106Q	ENSP00000326579:E106Q	E	+	1	0	HCCS	11045371	1.000000	0.71417	0.594000	0.28785	0.689000	0.40095	9.239000	0.95389	2.387000	0.81309	0.600000	0.82982	GAG		0.393	HCCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055742.1			72	172	0	0	0	1	0	72	172				
CFHR2	3080	broad.mit.edu	37	1	196871632	196871632	+	Intron	SNP	C	C	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:196871632C>A	ENST00000367421.3	+	2	135				CFHR4_ENST00000367416.2_Missense_Mutation_p.A47E|CFHR4_ENST00000251424.4_Missense_Mutation_p.A48E|CFHR4_ENST00000608469.1_Intron|CFHR4_ENST00000367418.2_Missense_Mutation_p.A48E			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						CCAGCAGCTGCAGGACAATCT	0.368																																						ENST00000367416.2																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						c.(139-141)gCa>gAa		complement factor H-related 4							132.0	139.0	137.0					1																	196871632		2081	4256	6337	SO:0001627	intron_variant	10877							g.chr1:196871632C>A	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-46953C>A	1.37:g.196871632C>A						CFHR4_ENST00000251424.4_Missense_Mutation_p.A48E|CFHR4_ENST00000367418.1_Intron|CFHR2_ENST00000367421.3_Intron	p.A47E	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1					2	277	+								Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37	c.140C>A		.	.	.	.	.	.	.	.	.	.	.	13.88	2.369841	0.42003	.	.	ENSG00000134365	ENST00000367416;ENST00000251424;ENST00000538553	T;T	0.63255	-0.03;-0.03	3.41	0.722	0.18225	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.52980	0.1768	N	0.14661	0.345	0.09310	N	1	D;D;P	0.63046	0.964;0.992;0.927	P;P;P	0.62435	0.564;0.902;0.816	T	0.39761	-0.9598	9	0.30078	T	0.28	.	2.9755	0.05936	0.0:0.1489:0.2586:0.5925	.	47;48;48	C9J7J7;Q5DVJ7;Q92496	.;.;FHR4_HUMAN	E	47;48;48	ENSP00000356386:A47E;ENSP00000251424:A48E	ENSP00000251424:A48E	A	+	2	0	CFHR4	195138255	0.029000	0.19370	0.049000	0.19019	0.003000	0.03518	0.198000	0.17217	0.475000	0.27415	-0.484000	0.04775	GCA		0.368	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		148	91	1	0	5.38354e-89	1	5.82051e-89	148	91				
SCN7A	6332	broad.mit.edu	37	2	167334107	167334107	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr2:167334107C>T	ENST00000409855.1	-	2	226	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	34					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TCTTCTTCTTCATGGTCTTCA	0.388																																						ENST00000409855.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(100-102)Gaa>Aaa		sodium channel, voltage-gated, type VII, alpha subunit							66.0	61.0	62.0					2																	167334107		1828	4078	5906	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167334107C>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.100G>A	2.37:g.167334107C>T	ENSP00000386796:p.Glu34Lys						p.E34K	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			2	226	-			34						Missense_Mutation	SNP	ENST00000409855.1	37	c.100G>A	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.949415	0.34377	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.98164	-4.13;-4.14;-4.76	4.37	1.43	0.22495	.	1.324330	0.05105	N	0.487890	D	0.95837	0.8645	L	0.39633	1.23	0.26638	N	0.972339	B	0.06786	0.001	B	0.06405	0.002	D	0.89065	0.3465	10	0.46703	T	0.11	.	6.8583	0.24052	0.0:0.7048:0.1539:0.1413	.	34	Q01118	SCN7A_HUMAN	K	34	ENSP00000386796:E34K;ENSP00000413699:E34K;ENSP00000403846:E34K	ENSP00000259060:E34K	E	-	1	0	SCN7A	167042353	0.290000	0.24343	0.201000	0.23476	0.830000	0.47004	0.439000	0.21575	0.160000	0.19432	0.655000	0.94253	GAA		0.388	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			10	10	0	0	0	1	0	10	10				
COL4A1	1282	broad.mit.edu	37	13	110838797	110838797	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr13:110838797G>A	ENST00000375820.4	-	26	1953	c.1832C>T	c.(1831-1833)gCt>gTt	p.A611V		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	611	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AATGGGACCAGCAGGACCATA	0.607																																						ENST00000375820.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(1831-1833)gCt>gTt		collagen, type IV, alpha 1							54.0	61.0	59.0					13																	110838797		2203	4300	6503	SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110838797G>A	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.1832C>T	13.37:g.110838797G>A	ENSP00000364979:p.Ala611Val						p.A611V	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		26	1953	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	611			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.1832C>T	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	G	8.614	0.889897	0.17540	.	.	ENSG00000187498	ENST00000375820	D	0.93426	-3.22	4.12	1.79	0.24919	.	0.339336	0.30501	N	0.009486	D	0.84192	0.5418	N	0.25286	0.73	0.53005	D	0.999965	B	0.13145	0.007	B	0.10450	0.005	T	0.73129	-0.4080	10	0.25106	T	0.35	.	4.914	0.13837	0.4882:0.0:0.5118:0.0	.	611	P02462	CO4A1_HUMAN	V	611	ENSP00000364979:A611V	ENSP00000364979:A611V	A	-	2	0	COL4A1	109636798	0.374000	0.25081	0.204000	0.23530	0.029000	0.11900	1.088000	0.30877	0.745000	0.32763	-0.302000	0.09304	GCT		0.607	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			69	75	0	0	0	1	0	69	75				
ARSF	416	broad.mit.edu	37	X	3002413	3002413	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:3002413G>A	ENST00000381127.1	+	6	757	c.536G>A	c.(535-537)cGt>cAt	p.R179H	ARSF_ENST00000359361.2_Missense_Mutation_p.R179H|ARSF_ENST00000537104.1_Missense_Mutation_p.R179H	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	179					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GACCCCTCTCGTAACACGGAA	0.537																																						ENST00000381127.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38						c.(535-537)cGt>cAt		arylsulfatase F							139.0	104.0	116.0					X																	3002413		2203	4300	6503	SO:0001583	missense	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:3002413G>A	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.536G>A	X.37:g.3002413G>A	ENSP00000370519:p.Arg179His					ARSF_ENST00000359361.2_Missense_Mutation_p.R179H|ARSF_ENST00000537104.1_Missense_Mutation_p.R179H	p.R179H	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN			6	757	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	179					Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	c.536G>A	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503135	0.44558	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.93763	-3.28;-3.28;-3.28	3.44	1.48	0.22813	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.735614	0.12955	U	0.425492	T	0.82010	0.4944	N	0.05050	-0.12	0.09310	N	1	B	0.32031	0.352	B	0.37047	0.24	T	0.72265	-0.4344	10	0.14252	T	0.57	.	3.7964	0.08741	0.2931:0.0:0.5274:0.1795	.	179	P54793	ARSF_HUMAN	H	179	ENSP00000370519:R179H;ENSP00000445594:R179H;ENSP00000352319:R179H	ENSP00000352319:R179H	R	+	2	0	ARSF	3012413	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.291000	0.08343	0.331000	0.23511	0.540000	0.68198	CGT		0.537	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			52	113	0	0	0	1	0	52	113				
SREK1IP1	285672	broad.mit.edu	37	5	64020228	64020228	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:64020228C>T	ENST00000513458.4	-	5	618	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K		NM_173829.3	NP_776190.1	Q8N9Q2	SR1IP_HUMAN	SREK1-interacting protein 1	151					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)		nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						CTGGAGAATTCAGAACTATTA	0.289																																						ENST00000513458.4																			0				breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						c.(451-453)Gaa>Aaa		SREK1-interacting protein 1							35.0	36.0	35.0					5																	64020228		2203	4296	6499	SO:0001583	missense	285672				mRNA processing|RNA splicing		nucleic acid binding|zinc ion binding	g.chr5:64020228C>T	AK094073	CCDS34171.1	5q12.3	2010-09-20	2010-09-20	2010-09-20	ENSG00000153006	ENSG00000153006			26716	protein-coding gene	gene with protein product	"""p18 splicing regulatory protein"""		"""SFRS12-interacting protein 1"""	SFRS12IP1		15456940	Standard	NM_173829		Approved	FLJ36754, P18SRP	uc003jtk.3	Q8N9Q2	OTTHUMG00000162291	ENST00000513458.4:c.451G>A	5.37:g.64020228C>T	ENSP00000427401:p.Glu151Lys						p.E151K	NM_173829.3	NP_776190.1	Q8N9Q2	SR1IP_HUMAN			5	618	-			151					Q32NC8	Missense_Mutation	SNP	ENST00000513458.4	37	c.451G>A	CCDS34171.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.106323	0.56291	.	.	ENSG00000153006	ENST00000513458	.	.	.	6.07	6.07	0.98685	.	0.232048	0.43416	D	0.000563	T	0.37433	0.1003	N	0.22421	0.69	0.42482	D	0.992869	P	0.37781	0.608	B	0.26864	0.074	T	0.42155	-0.9468	9	0.87932	D	0	-0.114	16.1594	0.81686	0.0:1.0:0.0:0.0	.	151	Q8N9Q2	SR1IP_HUMAN	K	151	.	ENSP00000427401:E151K	E	-	1	0	SREK1IP1	64055984	1.000000	0.71417	0.998000	0.56505	0.606000	0.37113	2.095000	0.41729	2.885000	0.99019	0.655000	0.94253	GAA		0.289	SREK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368457.4	NM_173829		14	27	0	0	0	1	0	14	27				
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170052	20170052	+	RNA	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr15:20170052C>T	ENST00000338912.5	-	0	219									immunoglobulin heavy variable 1/OR15-9 (non-functional)																		GTGCTGCCATCACTAGGGCAC	0.552																																						ENST00000338912.5																			0																				134.0	130.0	131.0					15																	20170052		2088	4231	6319			390531							g.chr15:20170052C>T	L25542		15q11.1	2013-10-18	2008-08-22		ENSG00000188403	ENSG00000188403		"""Immunoglobulins / IGH orphons"""	5569	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR15-9"", ""V-set and immunoglobulin domain containing 7"""	VSIG7		7959766	Standard	NG_032069		Approved	IGHV1/OR15-9, IGHV1OR159			OTTHUMG00000171652		15.37:g.20170052C>T														0	219	-									RNA	SNP	ENST00000338912.5	37																																																																																						0.552	IGHV1OR15-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000414646.4			44	63	0	0	0	1	0	44	63				
NBAS	51594	broad.mit.edu	37	2	15417101	15417101	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr2:15417101C>G	ENST00000281513.5	-	43	5288	c.5263G>C	c.(5263-5265)Gat>Cat	p.D1755H	NBAS_ENST00000441750.1_Missense_Mutation_p.D1635H	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1755					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CTTTCGTGATCAAAGCCACCA	0.443																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(5263-5265)Gat>Cat		neuroblastoma amplified sequence							94.0	89.0	91.0					2																	15417101		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15417101C>G	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.5263G>C	2.37:g.15417101C>G	ENSP00000281513:p.Asp1755His					NBAS_ENST00000441750.1_Missense_Mutation_p.D1635H	p.D1755H	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			43	5288	-			1755					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.5263G>C	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.760260|4.760260	0.89932|0.89932	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513|ENST00000442506	T;T|.	0.17528|.	2.27;2.49|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.043398|.	0.85682|.	D|.	0.000000|.	T|T	0.77772|0.77772	0.4180|0.4180	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.80764|.	0.994;0.994|.	T|T	0.75977|0.75977	-0.3127|-0.3127	10|5	0.87932|.	D|.	0|.	.|.	20.0216|20.0216	0.97506|0.97506	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1635;1755|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	H|F	1635;1755|802	ENSP00000413201:D1635H;ENSP00000281513:D1755H|.	ENSP00000281513:D1755H|.	D|L	-|-	1|3	0|2	NBAS|NBAS	15334552|15334552	1.000000|1.000000	0.71417|0.71417	0.745000|0.745000	0.31077|0.31077	0.965000|0.965000	0.64279|0.64279	7.209000|7.209000	0.77916|0.77916	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GAT|TTG		0.443	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		23	40	0	0	0	1	0	23	40				
GPR98	84059	broad.mit.edu	37	5	89981662	89981662	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:89981662G>A	ENST00000405460.2	+	29	6436	c.6340G>A	c.(6340-6342)Gat>Aat	p.D2114N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2114	Calx-beta 15. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CATTGCCAATGATGATGCATT	0.428																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(6340-6342)Gat>Aat		G protein-coupled receptor 98							119.0	106.0	110.0					5																	89981662		1935	4135	6070	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89981662G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6340G>A	5.37:g.89981662G>A	ENSP00000384582:p.Asp2114Asn						p.D2114N	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	29	6436	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2114					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.6340G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	36	5.643051	0.96704	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.46819	0.86	5.8	5.8	0.92144	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.74390	0.3710	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77448	-0.2584	10	0.87932	D	0	.	20.0503	0.97624	0.0:0.0:1.0:0.0	.	2114	Q8WXG9	GPR98_HUMAN	N	2114	ENSP00000384582:D2114N	ENSP00000296619:D2114N	D	+	1	0	GPR98	90017418	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.624000	0.98398	2.736000	0.93811	0.591000	0.81541	GAT		0.428	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		26	32	0	0	0	1	0	26	32				
CHD6	84181	broad.mit.edu	37	20	40065914	40065914	+	Splice_Site	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr20:40065914C>T	ENST00000373233.3	-	27	4245	c.4068G>A	c.(4066-4068)acG>acA	p.T1356T		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1356					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTTGACTCACCGTTTGTTTCT	0.383																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.e27+1		chromodomain helicase DNA binding protein 6							215.0	174.0	188.0					20																	40065914		2203	4300	6503	SO:0001630	splice_region_variant	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40065914C>T	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.4068+1G>A	20.37:g.40065914C>T							p.T1356_splice	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			27	4245	-		Myeloproliferative disorder(115;0.00425)	1356					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Splice_Site	SNP	ENST00000373233.3	37	c.4068_splice	CCDS13317.1																																																																																				0.383	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1		Silent	25	117	0	0	0	1	0	25	117				
SYNM	23336	broad.mit.edu	37	15	99670618	99670618	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr15:99670618G>A	ENST00000560674.1	+	4	1664	c.1195G>A	c.(1195-1197)Gaa>Aaa	p.E399K	SYNM_ENST00000561323.1_3'UTR|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000328642.7_Missense_Mutation_p.E684K|SYNM_ENST00000336292.6_Missense_Mutation_p.E684K			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	685	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AACAAAGACTGAAATAGTTGT	0.443																																					Pancreas(125;1071 1762 21750 40003 40381)	ENST00000336292.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						c.(2050-2052)Gaa>Aaa		synemin, intermediate filament protein							75.0	73.0	74.0					15																	99670618		1948	4150	6098	SO:0001583	missense	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99670618G>A	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.1195G>A	15.37:g.99670618G>A	ENSP00000453040:p.Glu399Lys					SYNM_ENST00000560674.1_Missense_Mutation_p.E399K|SYNM_ENST00000328642.7_Missense_Mutation_p.E684K|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR	p.E684K	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN			5	2170	+			685			Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	ENST00000560674.1	37	c.2050G>A		.	.	.	.	.	.	.	.	.	.	G	20.2	3.948567	0.73787	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	T;T	0.36157	1.27;1.27	5.73	5.73	0.89815	.	.	.	.	.	T	0.50463	0.1617	.	.	.	0.42940	D	0.994341	P;D	0.53885	0.881;0.963	B;P	0.54706	0.32;0.759	T	0.52518	-0.8565	8	0.87932	D	0	.	12.5567	0.56257	0.0756:0.0:0.9244:0.0	.	685;684	O15061;C9JIE4	SYNEM_HUMAN;.	K	684	ENSP00000336775:E684K;ENSP00000330469:E684K	ENSP00000330469:E684K	E	+	1	0	SYNM	97488141	1.000000	0.71417	0.574000	0.28523	0.810000	0.45777	3.493000	0.53266	2.861000	0.98227	0.655000	0.94253	GAA		0.443	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728		17	20	0	0	0	1	0	17	20				
TRIO	7204	broad.mit.edu	37	5	14492748	14492748	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:14492748G>A	ENST00000344204.4	+	49	7729	c.7705G>A	c.(7705-7707)Gag>Aag	p.E2569K	TRIO_ENST00000537187.1_Missense_Mutation_p.E2393K|TRIO_ENST00000344135.5_Missense_Mutation_p.E68K	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2569	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GAAGGAGGATGAGATCAACGT	0.532																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(7705-7707)Gag>Aag		trio Rho guanine nucleotide exchange factor							114.0	90.0	98.0					5																	14492748		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14492748G>A	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.7705G>A	5.37:g.14492748G>A	ENSP00000339299:p.Glu2569Lys					TRIO_ENST00000537187.1_Missense_Mutation_p.E2393K|TRIO_ENST00000344135.5_Missense_Mutation_p.E68K	p.E2569K	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			49	7729	+	Lung NSC(4;0.000742)		2569			SH3 2.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.7705G>A	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	35	5.449402	0.96205	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206;ENST00000344135	T;T;T	0.54279	0.58;0.58;0.58	5.52	5.52	0.82312	Src homology-3 domain (2);	0.000000	0.85682	D	0.000000	T	0.65228	0.2671	L	0.34521	1.04	0.38525	D	0.948815	D	0.89917	1.0	D	0.81914	0.995	T	0.69499	-0.5129	10	0.72032	D	0.01	.	19.4741	0.94979	0.0:0.0:1.0:0.0	.	2569	O75962	TRIO_HUMAN	K	2569;2393;2256;68	ENSP00000339299:E2569K;ENSP00000446348:E2393K;ENSP00000339291:E68K	ENSP00000339291:E68K	E	+	1	0	TRIO	14545748	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.414000	0.97362	2.595000	0.87683	0.655000	0.94253	GAG		0.532	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		16	145	0	0	0	1	0	16	145				
GOLT1A	127845	broad.mit.edu	37	1	204170910	204170910	+	Silent	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:204170910G>A	ENST00000308302.3	-	3	332	c.147C>T	c.(145-147)atC>atT	p.I49I	GOLT1A_ENST00000475517.1_5'Flank	NM_198447.1	NP_940849.1			golgi transport 1A											kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			TCAGGCCAATGATGAGGGACA	0.592																																						ENST00000308302.3																			0				kidney(1)|lung(2)|urinary_tract(1)	4						c.(145-147)atC>atT		golgi transport 1A							107.0	112.0	110.0					1																	204170910		2203	4300	6503	SO:0001819	synonymous_variant	127845				protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		g.chr1:204170910G>A	BC058832	CCDS1443.1	1q32.1	2010-06-24	2010-06-24		ENSG00000174567	ENSG00000174567			24766	protein-coding gene	gene with protein product			"""golgi transport 1 homolog A (S. cerevisiae)"""			12477932	Standard	NM_198447		Approved	FLJ42654, CGI-141, YMR292W, GOT1, MGC62027	uc001has.1	Q6ZVE7	OTTHUMG00000036056	ENST00000308302.3:c.147C>T	1.37:g.204170910G>A							p.I49I	NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)		3	332	-	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		49						Silent	SNP	ENST00000308302.3	37	c.147C>T	CCDS1443.1																																																																																				0.592	GOLT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087887.1	NM_198447		35	115	0	0	0	1	0	35	115				
SKP2	6502	broad.mit.edu	37	5	36181999	36181999	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:36181999G>T	ENST00000274255.6	+	10	1337	c.1141G>T	c.(1141-1143)Gaa>Taa	p.E381*	SKP2_ENST00000508514.1_Nonsense_Mutation_p.E174*|SKP2_ENST00000274254.5_Intron|SKP2_ENST00000546211.1_Nonsense_Mutation_p.E167*	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	381					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACTGTTAAAGGAAGCCCTTCC	0.423																																						ENST00000274255.6																			0				breast(1)|central_nervous_system(2)|ovary(1)	4						c.(1141-1143)Gaa>Taa		S-phase kinase-associated protein 2, E3 ubiquitin protein ligase							129.0	124.0	126.0					5																	36181999		2203	4300	6503	SO:0001587	stop_gained	6502				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr5:36181999G>T	U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604		"""F-boxes / Leucine-rich repeats"""	10901	protein-coding gene	gene with protein product		601436	"""S-phase kinase-associated protein 2 (p45)"""			8646875	Standard	NM_005983		Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.1141G>T	5.37:g.36181999G>T	ENSP00000274255:p.Glu381*					SKP2_ENST00000274254.5_Intron|SKP2_ENST00000546211.1_Nonsense_Mutation_p.E167*|SKP2_ENST00000508514.1_Nonsense_Mutation_p.E174*	p.E381*	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		10	1337	+	all_lung(31;5.63e-05)		381					A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69	Nonsense_Mutation	SNP	ENST00000274255.6	37	c.1141G>T	CCDS3916.1	.	.	.	.	.	.	.	.	.	.	G	33	5.285260	0.95517	.	.	ENSG00000145604	ENST00000274255;ENST00000308927;ENST00000508514;ENST00000546211	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	20.3057	0.98631	0.0:0.0:1.0:0.0	.	.	.	.	X	381;347;174;167	.	ENSP00000274255:E381X	E	+	1	0	SKP2	36217756	1.000000	0.71417	0.993000	0.49108	0.981000	0.71138	5.439000	0.66556	2.791000	0.96007	0.655000	0.94253	GAA		0.423	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253769.2	NM_005983		86	360	1	0	9.61239e-26	1	1.01295e-25	86	360				
NPPA	4878	broad.mit.edu	37	1	11907385	11907385	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:11907385C>T	ENST00000376480.3	-	2	333	c.235G>A	c.(235-237)Gag>Aag	p.E79K	NPPA-AS1_ENST00000400892.2_RNA|NPPA-AS1_ENST00000446542.1_RNA|NPPA_ENST00000376476.1_Missense_Mutation_p.E29K	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A	79					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to mechanical stimulus (GO:0071260)|cGMP biosynthetic process (GO:0006182)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|negative regulation of cell growth (GO:0030308)|negative regulation of systemic arterial blood pressure (GO:0003085)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|transcription initiation from RNA polymerase II promoter (GO:0006367)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGGCACCTCAGGGAGGGGG	0.617																																						ENST00000376480.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(235-237)Gag>Aag		natriuretic peptide A							35.0	41.0	39.0					1																	11907385		2200	4299	6499	SO:0001583	missense	4878				cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity	g.chr1:11907385C>T	BC005893	CCDS139.1	1p36.21	2014-09-17	2010-11-09		ENSG00000175206	ENSG00000175206		"""Endogenous ligands"""	7939	protein-coding gene	gene with protein product		108780	"""natriuretic peptide precursor A"""	ANP, PND			Standard	NM_006172		Approved		uc001ati.3	P01160	OTTHUMG00000002388	ENST00000376480.3:c.235G>A	1.37:g.11907385C>T	ENSP00000365663:p.Glu79Lys					NPPA-AS1_ENST00000400892.2_RNA|NPPA_ENST00000376476.1_Missense_Mutation_p.E29K|NPPA-AS1_ENST00000446542.1_RNA	p.E79K	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	333	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)	79					Q13766|Q5JZE1	Missense_Mutation	SNP	ENST00000376480.3	37	c.235G>A	CCDS139.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242934	0.79912	.	.	ENSG00000175206	ENST00000376480;ENST00000376476	T	0.51325	0.71	4.45	4.45	0.53987	.	0.231825	0.37095	N	0.002250	T	0.67785	0.2930	M	0.80028	2.48	0.35970	D	0.835215	D	0.69078	0.997	D	0.73380	0.98	T	0.75915	-0.3149	10	0.59425	D	0.04	-31.3966	12.8966	0.58104	0.0:1.0:0.0:0.0	.	79	P01160	ANF_HUMAN	K	79;29	ENSP00000365663:E79K	ENSP00000365659:E29K	E	-	1	0	NPPA	11829972	0.764000	0.28473	0.977000	0.42913	0.937000	0.57800	3.009000	0.49552	2.768000	0.95171	0.561000	0.74099	GAG		0.617	NPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006852.1	NM_006172		34	101	0	0	0	1	0	34	101				
PSMC2	5701	broad.mit.edu	37	7	102996211	102996211	+	Silent	SNP	C	C	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:102996211C>G	ENST00000435765.1	+	5	672	c.261C>G	c.(259-261)ctC>ctG	p.L87L	SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000292644.3_Silent_p.L87L|SLC26A5_ENST00000393735.2_Intron|PSMC2_ENST00000544811.1_Intron|SLC26A5_ENST00000339444.6_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	87					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)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						AGCAGACACTCCAGAGTGAAC	0.458																																						ENST00000435765.1																			0				breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						c.(259-261)ctC>ctG		proteasome (prosome, macropain) 26S subunit, ATPase, 2							65.0	64.0	64.0					7																	102996211		2203	4300	6503	SO:0001819	synonymous_variant	5701				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr7:102996211C>G	D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9548	protein-coding gene	gene with protein product	"""proteasome 26S subunit, ATPase, 2"", ""mammalian suppressor of sgv-1 of yeast"", ""protease 26S subunit 7"", ""putative protein product of Nbla10058"""	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.261C>G	7.37:g.102996211C>G						SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000292644.3_Silent_p.L87L|PSMC2_ENST00000544811.1_Intron|SLC26A5_ENST00000393735.2_Intron	p.L87L	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN			5	672	+			87					A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Silent	SNP	ENST00000435765.1	37	c.261C>G	CCDS5731.1																																																																																				0.458	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1	NM_002803		21	35	0	0	0	1	0	21	35				
INTS7	25896	broad.mit.edu	37	1	212180042	212180042	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:212180042A>G	ENST00000366994.3	-	7	922	c.818T>C	c.(817-819)aTt>aCt	p.I273T	INTS7_ENST00000366993.3_Missense_Mutation_p.I273T|INTS7_ENST00000366992.3_Missense_Mutation_p.I273T|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_Missense_Mutation_p.I224T	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	273					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		CAGATCTTGAATAGCAAGTCT	0.318																																						ENST00000366994.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(817-819)aTt>aCt		integrator complex subunit 7							120.0	122.0	121.0					1																	212180042		2203	4300	6503	SO:0001583	missense	25896				snRNA processing	integrator complex	protein binding	g.chr1:212180042A>G	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.818T>C	1.37:g.212180042A>G	ENSP00000355961:p.Ile273Thr					INTS7_ENST00000366992.3_Missense_Mutation_p.I273T|INTS7_ENST00000440600.2_Missense_Mutation_p.I224T|INTS7_ENST00000366993.3_Missense_Mutation_p.I273T|INTS7_ENST00000469606.1_5'UTR	p.I273T	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	7	922	-			273					B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	ENST00000366994.3	37	c.818T>C	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	A	16.26	3.073491	0.55646	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	5.5	5.5	0.81552	Armadillo-like helical (1);Armadillo-type fold (1);	0.140227	0.64402	D	0.000005	T	0.35624	0.0938	L	0.46157	1.445	0.53005	D	0.999969	B;B;B;B	0.16396	0.017;0.017;0.017;0.003	B;B;B;B	0.14578	0.007;0.011;0.007;0.005	T	0.14839	-1.0458	10	0.87932	D	0	-16.9543	15.8958	0.79333	1.0:0.0:0.0:0.0	.	224;273;273;273	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	T	273;273;273;224	ENSP00000355961:I273T;ENSP00000355960:I273T;ENSP00000355959:I273T;ENSP00000388908:I224T	ENSP00000355959:I273T	I	-	2	0	INTS7	210246665	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.904000	0.75708	2.209000	0.71365	0.482000	0.46254	ATT		0.318	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		37	111	0	0	0	1	0	37	111				
VPS41	27072	broad.mit.edu	37	7	38812186	38812186	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:38812186A>G	ENST00000310301.4	-	13	1118	c.1064T>C	c.(1063-1065)gTa>gCa	p.V355A	VPS41_ENST00000395969.2_Missense_Mutation_p.V330A|VPS41_ENST00000466017.1_5'Flank	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	355					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CTTGGCCACTACAACATCTCT	0.408																																						ENST00000310301.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						c.(1063-1065)gTa>gCa		vacuolar protein sorting 41 homolog (S. cerevisiae)							152.0	135.0	141.0					7																	38812186		2203	4300	6503	SO:0001583	missense	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38812186A>G	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.1064T>C	7.37:g.38812186A>G	ENSP00000309457:p.Val355Ala					VPS41_ENST00000395969.2_Missense_Mutation_p.V330A	p.V355A	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN			13	1118	-			355					E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	ENST00000310301.4	37	c.1064T>C	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	A	35	5.414897	0.96092	.	.	ENSG00000006715	ENST00000310301;ENST00000395969	T;T	0.26810	1.71;1.76	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.56906	0.2017	M	0.85859	2.78	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.78314	0.985;0.991;0.991	T	0.62431	-0.6856	10	0.62326	D	0.03	-21.9258	16.6093	0.84858	1.0:0.0:0.0:0.0	.	355;330;355	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	A	355;330	ENSP00000309457:V355A;ENSP00000379297:V330A	ENSP00000309457:V355A	V	-	2	0	VPS41	38778711	1.000000	0.71417	0.304000	0.25085	0.994000	0.84299	9.163000	0.94750	2.324000	0.78689	0.533000	0.62120	GTA		0.408	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			25	53	0	0	0	1	0	25	53				
DDX59	83479	broad.mit.edu	37	1	200619777	200619777	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:200619777G>C	ENST00000331314.6	-	5	1303	c.1090C>G	c.(1090-1092)Caa>Gaa	p.Q364E	DDX59_ENST00000367348.3_Missense_Mutation_p.Q364E|DDX59_ENST00000447706.2_Missense_Mutation_p.Q364E	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	364	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						ACTTGTTGTTGAAAACCCATC	0.358																																						ENST00000447706.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						c.(1090-1092)Caa>Gaa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 59							65.0	60.0	62.0					1																	200619777		2203	4300	6503	SO:0001583	missense	83479					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding	g.chr1:200619777G>C	BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"""Zinc fingers, HIT-type"", ""DEAD-boxes"""	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.1090C>G	1.37:g.200619777G>C	ENSP00000330460:p.Gln364Glu					DDX59_ENST00000367348.3_Missense_Mutation_p.Q364E|DDX59_ENST00000331314.6_Missense_Mutation_p.Q364E	p.Q364E			Q5T1V6	DDX59_HUMAN			5	1241	-			364			Helicase ATP-binding.		Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	37	c.1090C>G	CCDS30964.1	.	.	.	.	.	.	.	.	.	.	G	8.752	0.921622	0.17982	.	.	ENSG00000118197	ENST00000447706;ENST00000413408;ENST00000367348;ENST00000331314;ENST00000433235;ENST00000453944	T;T;T;T;T;T	0.39592	2.51;3.45;2.51;2.51;3.65;1.07	5.57	5.57	0.84162	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.22475	0.0542	N	0.01122	-1.005	0.58432	D	0.999999	B;B	0.29508	0.246;0.246	B;B	0.40659	0.336;0.268	T	0.27054	-1.0085	10	0.02654	T	1	-19.7509	19.5385	0.95264	0.0:0.0:1.0:0.0	.	364;364	B7Z5N6;Q5T1V6	.;DDX59_HUMAN	E	364;2;364;364;7;7	ENSP00000394367:Q364E;ENSP00000394304:Q2E;ENSP00000356317:Q364E;ENSP00000330460:Q364E;ENSP00000409954:Q7E;ENSP00000398152:Q7E	ENSP00000330460:Q364E	Q	-	1	0	DDX59	198886400	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.803000	0.85983	2.618000	0.88619	0.573000	0.79308	CAA		0.358	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4		16	77	0	0	0	1	0	16	77				
SSTR1	6751	broad.mit.edu	37	14	38678915	38678915	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr14:38678915C>T	ENST00000267377.2	+	3	938	c.321C>T	c.(319-321)ctC>ctT	p.L107L		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	107					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	ATGAGCTGCTCATGCTCAGCG	0.577																																						ENST00000267377.2																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(319-321)ctC>ctT		somatostatin receptor 1	Octreotide(DB00104)						204.0	185.0	191.0					14																	38678915		2203	4300	6503	SO:0001819	synonymous_variant	6751				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	g.chr14:38678915C>T		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"""GPCR / Class A : Somatostatin receptors"""	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.321C>T	14.37:g.38678915C>T							p.L107L	NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	3	938	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		107						Silent	SNP	ENST00000267377.2	37	c.321C>T	CCDS9666.1																																																																																				0.577	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			90	163	0	0	0	1	0	90	163				
OR4C3	256144	broad.mit.edu	37	11	48347158	48347158	+	Silent	SNP	G	G	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr11:48347158G>T	ENST00000319856.4	+	1	687	c.666G>T	c.(664-666)ctG>ctT	p.L222L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TCATTGGTCTGCTGGTGGTTG	0.502																																						ENST00000319856.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						c.(664-666)ctG>ctT		olfactory receptor, family 4, subfamily C, member 3							248.0	171.0	197.0					11																	48347158		2201	4298	6499	SO:0001819	synonymous_variant	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48347158G>T	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.666G>T	11.37:g.48347158G>T							p.L222L	NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN			1	687	+			195					B2RNF2|Q6IFB3	Silent	SNP	ENST00000319856.4	37	c.666G>T	CCDS31489.1																																																																																				0.502	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		36	68	1	0	6.84511e-11	1	7.07895e-11	36	68				
ZNF407	55628	broad.mit.edu	37	18	72346054	72346054	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr18:72346054C>G	ENST00000299687.5	+	1	3079	c.3079C>G	c.(3079-3081)Cac>Gac	p.H1027D	ZNF407_ENST00000309902.6_Missense_Mutation_p.H1027D|ZNF407_ENST00000577538.1_Missense_Mutation_p.H1027D|ZNF407_ENST00000582337.1_Missense_Mutation_p.H1027D	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1027					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GTTTAGTGCTCACTCCTCTGC	0.488																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(3079-3081)Cac>Gac		zinc finger protein 407							113.0	114.0	114.0					18																	72346054		2010	4190	6200	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72346054C>G	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.3079C>G	18.37:g.72346054C>G	ENSP00000299687:p.His1027Asp					ZNF407_ENST00000582337.1_Missense_Mutation_p.H1027D|ZNF407_ENST00000577538.1_Missense_Mutation_p.H1027D|ZNF407_ENST00000309902.6_Missense_Mutation_p.H1027D	p.H1027D	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	3079	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	1027					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.3079C>G	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.249946	0.39797	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.15017	2.46;2.46	6.03	5.17	0.71159	Zinc finger, C2H2-like (1);	0.074604	0.56097	D	0.000021	T	0.28333	0.0700	L	0.32530	0.975	0.38356	D	0.94447	D;D;D	0.67145	0.996;0.989;0.981	D;P;P	0.64410	0.925;0.836;0.69	T	0.04961	-1.0915	10	0.35671	T	0.21	.	13.9129	0.63878	0.0:0.9298:0.0:0.0702	.	1027;1027;1027	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	D	1027	ENSP00000299687:H1027D;ENSP00000310359:H1027D	ENSP00000299687:H1027D	H	+	1	0	ZNF407	70475042	1.000000	0.71417	0.973000	0.42090	0.084000	0.17831	5.487000	0.66863	1.100000	0.41517	0.455000	0.32223	CAC		0.488	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		59	92	0	0	0	1	0	59	92				
ZNF106	64397	broad.mit.edu	37	15	42734335	42734335	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr15:42734335C>T	ENST00000263805.4	-	7	3956	c.3630G>A	c.(3628-3630)gaG>gaA	p.E1210E	ZNF106_ENST00000565611.1_Silent_p.E395E|ZNF106_ENST00000565380.1_Silent_p.E438E	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1210					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CATTCACATTCTCATCTTGTT	0.463																																						ENST00000263805.4																			0											c.(3628-3630)gaG>gaA		zinc finger protein 106							183.0	165.0	171.0					15																	42734335		2203	4299	6502	SO:0001819	synonymous_variant	64397							g.chr15:42734335C>T	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.3630G>A	15.37:g.42734335C>T						ZNF106_ENST00000565611.1_Silent_p.E395E|ZNF106_ENST00000565380.1_Silent_p.E438E	p.E1210E	NM_022473.1	NP_071918.1					7	3956	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Silent	SNP	ENST00000263805.4	37	c.3630G>A	CCDS32208.1																																																																																				0.463	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		78	115	0	0	0	1	0	78	115				
PEA15	8682	broad.mit.edu	37	1	160183267	160183267	+	Silent	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:160183267G>A	ENST00000360472.4	+	4	572	c.384G>A	c.(382-384)aaG>aaA	p.K128K	PEA15_ENST00000368077.1_Silent_p.K106K|PEA15_ENST00000488858.1_3'UTR|PEA15_ENST00000368076.1_Silent_p.K149K	NM_003768.3	NP_003759.1	Q15121	PEA15_HUMAN	phosphoprotein enriched in astrocytes 15	128	Microtubule-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|DNA damage checkpoint (GO:0000077)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of glucose import (GO:0046325)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|response to morphine (GO:0043278)|transport (GO:0006810)	cytoplasm (GO:0005737)|microtubule associated complex (GO:0005875)				large_intestine(1)|lung(4)	5	all_cancers(52;3.11e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCCCACCGAAGAAGGCCTGAG	0.577																																						ENST00000368076.1																			0				large_intestine(1)|lung(4)	5						c.(445-447)aaG>aaA		phosphoprotein enriched in astrocytes 15							60.0	54.0	56.0					1																	160183267		2203	4300	6503	SO:0001819	synonymous_variant	8682				anti-apoptosis|apoptosis|carbohydrate transport|negative regulation of glucose import	cytoplasm|microtubule associated complex	protein binding	g.chr1:160183267G>A	Y13736	CCDS1199.1, CCDS72954.1	1q21.1	2008-07-18			ENSG00000162734	ENSG00000162734			8822	protein-coding gene	gene with protein product	"""Phosphoprotein enriched in astrocytes, 15kD"", ""homolog of mouse MAT-1 oncogene"""	603434				9205133	Standard	XM_005245564		Approved	HMAT1, MAT1, PED, PEA-15, MAT1H, HUMMAT1H	uc001fvk.3	Q15121	OTTHUMG00000031605	ENST00000360472.4:c.384G>A	1.37:g.160183267G>A						PEA15_ENST00000368077.1_Silent_p.K106K|PEA15_ENST00000360472.4_Silent_p.K128K|PEA15_ENST00000488858.1_3'UTR	p.K149K			Q15121	PEA15_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		6	795	+	all_cancers(52;3.11e-18)|all_hematologic(112;0.093)		128					B1AKZ3|O00511	Silent	SNP	ENST00000360472.4	37	c.447G>A	CCDS1199.1																																																																																				0.577	PEA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077407.1	NM_003768		14	91	0	0	0	1	0	14	91				
NAGA	4668	broad.mit.edu	37	22	42461763	42461763	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr22:42461763C>T	ENST00000396398.3	-	6	1270	c.738G>A	c.(736-738)ggG>ggA	p.G246G	NAGA_ENST00000403363.1_Silent_p.G246G|NAGA_ENST00000402937.1_Silent_p.G246G	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	246					carbohydrate catabolic process (GO:0016052)|glycolipid catabolic process (GO:0019377)|glycoside catabolic process (GO:0016139)|glycosylceramide catabolic process (GO:0046477)|oligosaccharide metabolic process (GO:0009311)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|alpha-N-acetylgalactosaminidase activity (GO:0008456)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						CATTCCAGTGCCCAGGGCCGG	0.587																																						ENST00000396398.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(736-738)ggG>ggA		N-acetylgalactosaminidase, alpha-							91.0	67.0	75.0					22																	42461763		2203	4300	6503	SO:0001819	synonymous_variant	4668				glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity	g.chr22:42461763C>T		CCDS14030.1	22q13.2	2010-07-09			ENSG00000198951	ENSG00000198951	3.2.1.49		7631	protein-coding gene	gene with protein product		104170					Standard	NM_000262		Approved	D22S674	uc003bbw.4	P17050	OTTHUMG00000151276	ENST00000396398.3:c.738G>A	22.37:g.42461763C>T						NAGA_ENST00000402937.1_Silent_p.G246G|NAGA_ENST00000403363.1_Silent_p.G246G	p.G246G	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN			6	1270	-			246						Silent	SNP	ENST00000396398.3	37	c.738G>A	CCDS14030.1	.	.	.	.	.	.	.	.	.	.	C	9.204	1.029233	0.19512	.	.	ENSG00000198951	ENST00000481068	.	.	.	5.09	-9.57	0.00562	.	.	.	.	.	T	0.32466	0.0830	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41052	-0.9530	4	.	.	.	-13.7522	1.9204	0.03306	0.2078:0.1736:0.1543:0.4643	.	.	.	.	T	124	.	.	A	-	1	0	NAGA	40791709	0.001000	0.12720	0.611000	0.29010	0.937000	0.57800	-1.443000	0.02405	-1.476000	0.01874	-0.309000	0.09137	GCA		0.587	NAGA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322056.1			14	48	0	0	0	1	0	14	48				
CSMD3	114788	broad.mit.edu	37	8	113519017	113519017	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr8:113519017G>A	ENST00000297405.5	-	29	5042	c.4798C>T	c.(4798-4800)Ctt>Ttt	p.L1600F	CSMD3_ENST00000343508.3_Missense_Mutation_p.L1560F|CSMD3_ENST00000352409.3_Missense_Mutation_p.L1600F|CSMD3_ENST00000455883.2_Missense_Mutation_p.L1496F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1600	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTGGTGAAAGAATAAAGCCT	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(4798-4800)Ctt>Ttt		CUB and Sushi multiple domains 3							118.0	110.0	113.0					8																	113519017		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113519017G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4798C>T	8.37:g.113519017G>A	ENSP00000297405:p.Leu1600Phe	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Missense_Mutation_p.L1496F|CSMD3_ENST00000343508.3_Missense_Mutation_p.L1560F|CSMD3_ENST00000352409.3_Missense_Mutation_p.L1600F	p.L1600F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			29	5042	-			1600			CUB 9.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.4798C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.292867	0.80914	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25	4.99	4.99	0.66335	CUB (5);	0.000000	0.64402	D	0.000005	T	0.32376	0.0827	L	0.52011	1.625	0.38256	D	0.941742	D;B;P	0.89917	1.0;0.18;0.552	D;B;P	0.91635	0.999;0.261;0.525	T	0.03240	-1.1057	10	0.25106	T	0.35	.	11.8796	0.52566	0.0797:0.0:0.9203:0.0	.	1496;1600;1560	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	F	1560;1600;940;1496;1600	ENSP00000345799:L1560F;ENSP00000297405:L1600F;ENSP00000341558:L940F;ENSP00000412263:L1496F;ENSP00000343124:L1600F	ENSP00000297405:L1600F	L	-	1	0	CSMD3	113588193	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.790000	0.62453	2.587000	0.87381	0.557000	0.71058	CTT		0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		20	76	0	0	0	1	0	20	76				
ZNF700	90592	broad.mit.edu	37	19	12060798	12060798	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:12060798C>A	ENST00000254321.5	+	4	2102	c.1959C>A	c.(1957-1959)tgC>tgA	p.C653*	ZNF763_ENST00000591944.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000482090.1_Nonsense_Mutation_p.C635*|ZNF763_ENST00000590798.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	653					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GTAAGGAATGCGAAAAAGCAT	0.408																																						ENST00000482090.1																		ZNF700/MAST1_ENST00000251472(2)	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						c.(1903-1905)tgC>tgA		zinc finger protein 700							62.0	61.0	62.0					19																	12060798		2203	4300	6503	SO:0001587	stop_gained	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12060798C>A	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1959C>A	19.37:g.12060798C>A	ENSP00000254321:p.Cys653*					ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000254321.5_Nonsense_Mutation_p.C653*|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron	p.C635*			Q9H0M5	ZN700_HUMAN			3	2323	+			653					B9EGU4	Nonsense_Mutation	SNP	ENST00000254321.5	37	c.1905C>A	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	t	19.81	3.895823	0.72639	.	.	ENSG00000196757	ENST00000254321	.	.	.	0.663	-0.495	0.12030	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.2982	0.15764	0.0:0.196:0.0:0.804	.	.	.	.	X	653	.	ENSP00000254321:C653X	C	+	3	2	ZNF700	11921798	0.981000	0.34729	0.001000	0.08648	0.012000	0.07955	0.054000	0.14205	-0.402000	0.07633	-1.323000	0.01288	TGC		0.408	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		3	83	1	0	1	1	1	3	83				
ZNF525	170958	broad.mit.edu	37	19	53883984	53883984	+	5'Flank	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:53883984C>T	ENST00000355326.3	+	0	0				ZNF525_ENST00000474037.1_Missense_Mutation_p.S51F|ZNF525_ENST00000467003.1_Missense_Mutation_p.S15F|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000600148.1_3'UTR			Q8N782	ZN525_HUMAN	zinc finger protein 525						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(3)|lung(3)	9						GGTATCTCTTCCAAATGCACA	0.363																																						ENST00000467003.1																			0				endometrium(3)|kidney(3)|lung(3)	9						c.(43-45)tCc>tTc		zinc finger protein 525																																				SO:0001631	upstream_gene_variant	170958							g.chr19:53883984C>T	AB075859		19q13.42	2013-01-16			ENSG00000203326	ENSG00000203326		"""Zinc fingers, C2H2-type"", ""-"""	29423	protein-coding gene	gene with protein product						11853319	Standard	NR_003699		Approved	KIAA1979	uc010eqn.3	Q8N782	OTTHUMG00000158277		19.37:g.53883984C>T	Exception_encountered					ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000474037.1_Missense_Mutation_p.S51F|ZNF525_ENST00000600148.1_3'UTR	p.S15F							4	245	+								Q8TF23	Missense_Mutation	SNP	ENST00000355326.3	37	c.44C>T		.	.	.	.	.	.	.	.	.	.	C	5.138	0.211048	0.09757	.	.	ENSG00000203326	ENST00000474037;ENST00000467003	T;T	0.08896	5.7;3.04	0.785	0.785	0.18584	.	.	.	.	.	T	0.03053	0.0090	.	.	.	0.26218	N	0.979207	.	.	.	.	.	.	T	0.44892	-0.9298	6	0.09843	T	0.71	.	3.0776	0.06252	0.0:0.6859:0.0:0.314	.	.	.	.	F	51;15	ENSP00000417696:S51F;ENSP00000419136:S15F	ENSP00000419136:S15F	S	+	2	0	ZNF525	58575796	0.000000	0.05858	0.016000	0.15963	0.056000	0.15407	-0.886000	0.04157	0.724000	0.32296	0.298000	0.19748	TCC		0.363	ZNF525-201	KNOWN	basic	protein_coding	protein_coding		NR_003699		25	114	0	0	0	1	0	25	114				
GPAM	57678	broad.mit.edu	37	10	113932772	113932772	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr10:113932772G>A	ENST00000348367.4	-	8	810	c.613C>T	c.(613-615)Caa>Taa	p.Q205*	GPAM_ENST00000423155.1_Nonsense_Mutation_p.Q205*|GPAM_ENST00000369425.1_Nonsense_Mutation_p.Q205*			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	205					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TTGTGAATTTGAATGTTCCAA	0.373																																					Ovarian(161;1017 2606 18293 52943)	ENST00000348367.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(613-615)Caa>Taa		glycerol-3-phosphate acyltransferase, mitochondrial							126.0	122.0	123.0					10																	113932772		2203	4300	6503	SO:0001587	stop_gained	57678				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr10:113932772G>A	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"""glycerol-3-phosphate acyltransferase 1, mitochondrial"""	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.613C>T	10.37:g.113932772G>A	ENSP00000265276:p.Gln205*					GPAM_ENST00000369425.1_Nonsense_Mutation_p.Q205*|GPAM_ENST00000423155.1_Nonsense_Mutation_p.Q205*	p.Q205*			Q9HCL2	GPAT1_HUMAN		Epithelial(162;0.0306)|all cancers(201;0.123)	8	810	-			205					Q5VW51|Q86TA3	Nonsense_Mutation	SNP	ENST00000348367.4	37	c.613C>T	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	G	39	7.566468	0.98361	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-18.688	18.8088	0.92050	0.0:0.0:1.0:0.0	.	.	.	.	X	205	.	ENSP00000265276:Q205X	Q	-	1	0	GPAM	113922762	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	9.203000	0.95033	2.871000	0.98454	0.655000	0.94253	CAA		0.373	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		25	54	0	0	0	1	0	25	54				
SNAPC4	6621	broad.mit.edu	37	9	139278482	139278482	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:139278482G>A	ENST00000298532.2	-	14	1791	c.1423C>T	c.(1423-1425)Cac>Tac	p.H475Y		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		TTTGCCCAGTGACCTGCAAAA	0.552																																						ENST00000298532.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33						c.(1423-1425)Cac>Tac		small nuclear RNA activating complex, polypeptide 4, 190kDa							82.0	74.0	76.0					9																	139278482		2203	4299	6502	SO:0001583	missense	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139278482G>A	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.1423C>T	9.37:g.139278482G>A	ENSP00000298532:p.His475Tyr						p.H475Y	NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	14	1791	-		Myeloproliferative disorder(178;0.0511)	475			HTH myb-type 3.			Missense_Mutation	SNP	ENST00000298532.2	37	c.1423C>T	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549951	0.86127	.	.	ENSG00000165684	ENST00000298532	T	0.23348	1.91	4.87	4.87	0.63330	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.161766	0.51477	D	0.000099	T	0.39436	0.1078	L	0.34521	1.04	0.42635	D	0.993397	D	0.76494	0.999	D	0.63488	0.915	T	0.30621	-0.9972	10	0.72032	D	0.01	-30.6358	17.359	0.87345	0.0:0.0:1.0:0.0	.	475	Q5SXM2	SNPC4_HUMAN	Y	475	ENSP00000298532:H475Y	ENSP00000298532:H475Y	H	-	1	0	SNAPC4	138398303	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.097000	0.50251	2.415000	0.81967	0.561000	0.74099	CAC		0.552	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		15	40	0	0	0	1	0	15	40				
HECTD1	25831	broad.mit.edu	37	14	31614087	31614087	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr14:31614087G>A	ENST00000399332.1	-	16	3045	c.2557C>T	c.(2557-2559)Cgt>Tgt	p.R853C	HECTD1_ENST00000553700.1_Missense_Mutation_p.R853C|RNU6-541P_ENST00000384709.1_RNA	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	853					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ACTACTCCACGAGGCATGCTT	0.353																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(2557-2559)Cgt>Tgt		HECT domain containing E3 ubiquitin protein ligase 1							88.0	83.0	84.0					14																	31614087		1873	4110	5983	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31614087G>A	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.2557C>T	14.37:g.31614087G>A	ENSP00000382269:p.Arg853Cys					HECTD1_ENST00000553700.1_Missense_Mutation_p.R853C	p.R853C	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	16	3045	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		853					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.2557C>T	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341031	0.81911	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957;ENST00000556224	T;T;T;D	0.81659	0.24;0.24;0.68;-1.52	5.54	5.54	0.83059	Armadillo-type fold (1);	0.000000	0.64402	U	0.000001	D	0.89019	0.6596	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;0.99	D;B	0.79784	0.993;0.249	D	0.89930	0.4065	10	0.87932	D	0	-8.2723	15.1355	0.72562	0.0:0.0:0.8581:0.1419	.	853;853	D3DS86;Q9ULT8	.;HECD1_HUMAN	C	853;853;853;327;853	ENSP00000450697:R853C;ENSP00000382269:R853C;ENSP00000451860:R327C;ENSP00000452015:R853C	ENSP00000261312:R853C	R	-	1	0	HECTD1	30683838	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.750000	0.62162	2.607000	0.88179	0.650000	0.86243	CGT		0.353	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			23	28	0	0	0	1	0	23	28				
RIMS2	9699	broad.mit.edu	37	8	105105807	105105807	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr8:105105807C>T	ENST00000436393.2	+	21	3071	c.2830C>T	c.(2830-2832)Cgt>Tgt	p.R944C	RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000262231.10_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	0					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TAGTGCTTCTCGTTTCAGCAG	0.423										HNSCC(12;0.0054)																												ENST00000436393.2																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(2830-2832)Cgt>Tgt		regulating synaptic membrane exocytosis 2							126.0	119.0	121.0					8																	105105807		876	1991	2867	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105105807C>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2830C>T	8.37:g.105105807C>T	ENSP00000390665:p.Arg944Cys	HNSCC(12;0.0054)				RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron	p.R944C			Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		21	3071	+			398					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.2830C>T		.	.	.	.	.	.	.	.	.	.	C	25.9	4.682703	0.88542	.	.	ENSG00000176406	ENST00000408894;ENST00000436393	T;T	0.21543	2.0;2.2	5.98	5.98	0.97165	.	.	.	.	.	T	0.51686	0.1689	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.50684	-0.8799	8	0.87932	D	0	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	944	D6RA03	.	C	1017;944	ENSP00000386228:R1017C;ENSP00000390665:R944C	ENSP00000386228:R1017C	R	+	1	0	RIMS2	105174983	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.838000	0.97847	0.591000	0.81541	CGT		0.423	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		42	111	0	0	0	1	0	42	111				
CALN1	83698	broad.mit.edu	37	7	71252799	71252799	+	Silent	SNP	C	C	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:71252799C>G	ENST00000329008.5	-	6	919	c.621G>C	c.(619-621)ctG>ctC	p.L207L	CALN1_ENST00000405452.2_Silent_p.L207L|CALN1_ENST00000431984.1_Silent_p.L207L|CALN1_ENST00000395275.2_Silent_p.L249L|CALN1_ENST00000412588.1_Silent_p.L249L|CALN1_ENST00000395276.2_Silent_p.L207L	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)	p.L249L(1)|p.L207L(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TGGCTGCAATCAGCATGACAC	0.592																																						ENST00000395275.2																			2	Substitution - coding silent(2)	p.L249L(1)|p.L207L(1)	lung(2)	biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32						c.(745-747)ctG>ctC		calneuron 1							118.0	92.0	101.0					7																	71252799		2203	4300	6503	SO:0001819	synonymous_variant	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71252799C>G	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.621G>C	7.37:g.71252799C>G						CALN1_ENST00000405452.2_Silent_p.L207L|CALN1_ENST00000412588.1_Silent_p.L249L|CALN1_ENST00000329008.5_Silent_p.L207L|CALN1_ENST00000431984.1_Silent_p.L207L|CALN1_ENST00000395276.2_Silent_p.L207L	p.L249L	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN			7	1135	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	207					J3KQA7	Silent	SNP	ENST00000329008.5	37	c.747G>C	CCDS5541.1																																																																																				0.592	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468		25	51	0	0	0	1	0	25	51				
LAMA3	3909	broad.mit.edu	37	18	21402267	21402267	+	Missense_Mutation	SNP	C	C	T	rs545342009		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr18:21402267C>T	ENST00000313654.9	+	20	2597	c.2356C>T	c.(2356-2358)Cgt>Tgt	p.R786C	LAMA3_ENST00000399516.3_Missense_Mutation_p.R786C	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	786					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CTCCTTGTTTCGTGTTATTCT	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		21589	0.001		0.0	False		,,,				2504	0.0					ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(2356-2358)Cgt>Tgt		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						127.0	119.0	121.0					18																	21402267		1886	4105	5991	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21402267C>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.2356C>T	18.37:g.21402267C>T	ENSP00000324532:p.Arg786Cys					LAMA3_ENST00000399516.3_Missense_Mutation_p.R786C	p.R786C	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			20	2597	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		786					B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.2356C>T	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424468	0.25639	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.21543	2.01;2.0	5.7	4.84	0.62591	.	.	.	.	.	T	0.26810	0.0656	M	0.81942	2.565	0.80722	D	1	B;B	0.31209	0.313;0.086	B;B	0.22880	0.042;0.017	T	0.07908	-1.0748	9	0.62326	D	0.03	.	12.6823	0.56928	0.0:0.863:0.0:0.137	.	786;786	Q6VU67;Q16787	.;LAMA3_HUMAN	C	786;786;784	ENSP00000324532:R786C;ENSP00000382432:R786C	ENSP00000324532:R786C	R	+	1	0	LAMA3	19656265	0.923000	0.31300	0.627000	0.29227	0.265000	0.26407	1.807000	0.38902	1.433000	0.47394	-0.142000	0.14014	CGT		0.383	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		33	59	0	0	0	1	0	33	59				
FOXRED2	80020	broad.mit.edu	37	22	36889786	36889786	+	Silent	SNP	G	G	A	rs202043879		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr22:36889786G>A	ENST00000397224.4	-	8	1782	c.1689C>T	c.(1687-1689)atC>atT	p.I563I	FOXRED2_ENST00000397223.4_Silent_p.I563I|FOXRED2_ENST00000366463.3_Silent_p.I115I|FOXRED2_ENST00000216187.6_Silent_p.I563I	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	563					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AGTCTTCCACGATGTGATGGA	0.597																																						ENST00000397224.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1687-1689)atC>atT		FAD-dependent oxidoreductase domain containing 2		G	,	0,4406		0,0,2203	68.0	64.0	65.0		1689,1689	0.2	1.0	22		65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	FOXRED2	NM_001102371.1,NM_024955.5	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	563/685,563/685	36889786	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80020				ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chr22:36889786G>A	BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.1689C>T	22.37:g.36889786G>A						FOXRED2_ENST00000216187.6_Silent_p.I563I|FOXRED2_ENST00000366463.3_Silent_p.I115I|FOXRED2_ENST00000397223.4_Silent_p.I563I	p.I563I	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN			8	1782	-			563					B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Silent	SNP	ENST00000397224.4	37	c.1689C>T	CCDS13929.1																																																																																				0.597	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104098.2	NM_024955		4	82	0	0	0	1	0	4	82				
APBA1	320	broad.mit.edu	37	9	72131087	72131087	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:72131087G>A	ENST00000265381.4	-	2	1262	c.1040C>T	c.(1039-1041)tCg>tTg	p.S347L		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	347					axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.S347L(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GATGGCCAGCGAGATGGCATC	0.701																																						ENST00000265381.4																			1	Substitution - Missense(1)	p.S347L(1)	skin(1)	endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(1039-1041)tCg>tTg		amyloid beta (A4) precursor protein-binding, family A, member 1							98.0	72.0	81.0					9																	72131087		2203	4300	6503	SO:0001583	missense	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72131087G>A	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1040C>T	9.37:g.72131087G>A	ENSP00000265381:p.Ser347Leu						p.S347L	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			2	1262	-			347					O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.1040C>T	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032310	0.75504	.	.	ENSG00000107282	ENST00000265381	T	0.05855	3.38	5.86	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.06690	0.0171	L	0.32530	0.975	0.54753	D	0.999983	B	0.22211	0.066	B	0.11329	0.006	T	0.28681	-1.0036	10	0.33940	T	0.23	-7.4978	15.0439	0.71813	0.068:0.0:0.932:0.0	.	347	Q02410	APBA1_HUMAN	L	347	ENSP00000265381:S347L	ENSP00000265381:S347L	S	-	2	0	APBA1	71320907	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.462000	0.60121	1.495000	0.48549	0.655000	0.94253	TCG		0.701	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		32	76	0	0	0	1	0	32	76				
CDKL5	6792	broad.mit.edu	37	X	18631353	18631353	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:18631353C>A	ENST00000379989.3	+	16	2519	c.2234C>A	c.(2233-2235)tCt>tAt	p.S745Y	CDKL5_ENST00000379996.3_Missense_Mutation_p.S745Y|CDKL5_ENST00000463994.1_Intron	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	745				Missing (in Ref. 5; CAA61445). {ECO:0000305}.	neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GAGAGCAGTTCTGGAACCAAC	0.363																																						ENST00000379989.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44						c.(2233-2235)tCt>tAt		cyclin-dependent kinase-like 5							132.0	127.0	129.0					X																	18631353		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18631353C>A	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.2234C>A	X.37:g.18631353C>A	ENSP00000369325:p.Ser745Tyr					CDKL5_ENST00000379996.3_Missense_Mutation_p.S745Y|CDKL5_ENST00000463994.1_Intron	p.S745Y	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN			16	2519	+	Hepatocellular(33;0.183)		745	Missing (in Ref. 4; CAA61445).				G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.2234C>A	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781453	0.49891	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.71579	-0.58;-0.58	5.03	5.03	0.67393	.	0.335464	0.35067	N	0.003463	T	0.62196	0.2408	N	0.19112	0.55	0.22280	N	0.999233	D	0.56521	0.976	P	0.47744	0.556	T	0.60885	-0.7174	10	0.87932	D	0	-12.3066	12.8887	0.58058	0.0:0.7068:0.2932:0.0	.	745	O76039	CDKL5_HUMAN	Y	745	ENSP00000369332:S745Y;ENSP00000369325:S745Y	ENSP00000369325:S745Y	S	+	2	0	CDKL5	18541274	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.067000	0.50010	2.202000	0.70862	0.499000	0.49734	TCT		0.363	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		5	206	1	0	1	1	1	5	206				
MYT1L	23040	broad.mit.edu	37	2	1926709	1926709	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr2:1926709C>A	ENST00000399161.2	-	10	1579	c.832G>T	c.(832-834)Gaa>Taa	p.E278*	MYT1L_ENST00000428368.2_Nonsense_Mutation_p.E278*	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	278					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTCATGTTTTCTGAGAGCACA	0.423																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(832-834)Gaa>Taa		myelin transcription factor 1-like							203.0	197.0	199.0					2																	1926709		2010	4183	6193	SO:0001587	stop_gained	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1926709C>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.832G>T	2.37:g.1926709C>A	ENSP00000382114:p.Glu278*					MYT1L_ENST00000428368.2_Nonsense_Mutation_p.E278*	p.E278*	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	10	1579	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	278					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Nonsense_Mutation	SNP	ENST00000399161.2	37	c.832G>T		.	.	.	.	.	.	.	.	.	.	C	42	9.293763	0.99127	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	.	.	.	6.07	6.07	0.98685	.	0.432382	0.26082	N	0.026446	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-14.3779	20.6439	0.99570	0.0:1.0:0.0:0.0	.	.	.	.	X	278;226;278	.	ENSP00000295067:E226X	E	-	1	0	MYT1L	1905716	1.000000	0.71417	0.040000	0.18447	0.181000	0.23173	7.737000	0.84957	2.884000	0.98904	0.655000	0.94253	GAA		0.423	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		84	131	1	0	1.42748e-55	1	1.53835e-55	84	131				
SON	6651	broad.mit.edu	37	21	34931547	34931547	+	Silent	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr21:34931547G>A	ENST00000356577.4	+	5	6808	c.6333G>A	c.(6331-6333)caG>caA	p.Q2111Q	SON_ENST00000381692.2_Silent_p.Q139Q|SON_ENST00000290239.6_Silent_p.Q2111Q|SON_ENST00000300278.4_Silent_p.Q2111Q	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	2111					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AATGTAAACAGATCGCACAGA	0.303																																						ENST00000356577.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(6331-6333)caG>caA		SON DNA binding protein							90.0	88.0	89.0					21																	34931547		2203	4298	6501	SO:0001819	synonymous_variant	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34931547G>A	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.6333G>A	21.37:g.34931547G>A						SON_ENST00000300278.4_Silent_p.Q2111Q|SON_ENST00000290239.6_Silent_p.Q2111Q|SON_ENST00000381692.2_Silent_p.Q139Q	p.Q2111Q	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			5	6808	+			2111					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Silent	SNP	ENST00000356577.4	37	c.6333G>A	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	G	1.510	-0.549690	0.03996	.	.	ENSG00000159140	ENST00000436227	.	.	.	5.4	2.62	0.31277	.	.	.	.	.	T	0.58133	0.2101	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50898	-0.8773	4	.	.	.	.	9.0041	0.36100	0.2839:0.0:0.7161:0.0	.	.	.	.	K	1106	.	.	R	+	2	0	SON	33853417	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.278000	0.51662	0.353000	0.24079	0.650000	0.86243	AGA		0.303	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		23	61	0	0	0	1	0	23	61				
NID1	4811	broad.mit.edu	37	1	236180568	236180568	+	Missense_Mutation	SNP	C	C	G	rs373911691		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:236180568C>G	ENST00000264187.6	-	10	2216	c.2134G>C	c.(2134-2136)Gat>Cat	p.D712H	NID1_ENST00000366595.3_Intron	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	712	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GAACATTCATCAATATCTGCA	0.393																																						ENST00000264187.6																			0				breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66						c.(2134-2136)Gat>Cat		nidogen 1	Becaplermin(DB00102)|Urokinase(DB00013)						116.0	112.0	114.0					1																	236180568		2203	4300	6503	SO:0001583	missense	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236180568C>G	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2134G>C	1.37:g.236180568C>G	ENSP00000264187:p.Asp712His					NID1_ENST00000366595.3_Intron	p.D712H	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		10	2216	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	712			EGF-like 3; calcium-binding (Potential).		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	c.2134G>C	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542537	0.45280	.	.	ENSG00000116962	ENST00000264187	D	0.95622	-3.76	5.83	3.97	0.46021	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.040847	0.85682	D	0.000000	D	0.97604	0.9215	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98065	1.0395	10	0.87932	D	0	.	11.985	0.53142	0.0:0.8608:0.0:0.1392	.	712	P14543	NID1_HUMAN	H	712	ENSP00000264187:D712H	ENSP00000264187:D712H	D	-	1	0	NID1	234247191	0.997000	0.39634	0.108000	0.21378	0.136000	0.21042	2.927000	0.48900	1.480000	0.48289	0.557000	0.71058	GAT		0.393	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		47	103	0	0	0	1	0	47	103				
ASXL3	80816	broad.mit.edu	37	18	31325316	31325316	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr18:31325316T>C	ENST00000269197.5	+	12	5504	c.5504T>C	c.(5503-5505)gTa>gCa	p.V1835A		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1835					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCTAGGACTGTAGGAGAACAC	0.478																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(5503-5505)gTa>gCa		additional sex combs like 3 (Drosophila)							186.0	183.0	184.0					18																	31325316		1948	4143	6091	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31325316T>C	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.5504T>C	18.37:g.31325316T>C	ENSP00000269197:p.Val1835Ala						p.V1835A	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			12	5504	+			1835					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.5504T>C	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	T	11.11	1.541906	0.27563	.	.	ENSG00000141431	ENST00000269197	T	0.19394	2.15	5.91	3.5	0.40072	.	.	.	.	.	T	0.14356	0.0347	L	0.27053	0.805	0.31429	N	0.673325	B	0.09022	0.002	B	0.08055	0.003	T	0.09228	-1.0684	9	0.59425	D	0.04	.	6.9095	0.24327	0.0:0.1319:0.1273:0.7408	.	1835	Q9C0F0	ASXL3_HUMAN	A	1835	ENSP00000269197:V1835A	ENSP00000269197:V1835A	V	+	2	0	ASXL3	29579314	0.705000	0.27846	0.977000	0.42913	0.975000	0.68041	0.677000	0.25262	0.480000	0.27534	0.528000	0.53228	GTA		0.478	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			8	272	0	0	0	1	0	8	272				
ARSB	411	broad.mit.edu	37	5	78076243	78076243	+	Missense_Mutation	SNP	C	C	T	rs368295181		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:78076243C>T	ENST00000264914.4	-	8	2115	c.1579G>A	c.(1579-1581)Ggg>Agg	p.G527R		NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	527					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		CCCCACACCCCAGTGGCCTTG	0.532																																					Melanoma(169;563 1968 25780 26156 52266)	ENST00000264914.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1579-1581)Ggg>Agg		arylsulfatase B		C	ARG/GLY	0,4406		0,0,2203	64.0	59.0	61.0		1579	5.3	0.5	5		61	1,8599	1.2+/-3.3	0,1,4299	no	missense	ARSB	NM_000046.3	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	527/534	78076243	1,13005	2203	4300	6503	SO:0001583	missense	411				lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity	g.chr5:78076243C>T	M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"""Arylsulfatase family"""	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.1579G>A	5.37:g.78076243C>T	ENSP00000264914:p.Gly527Arg						p.G527R	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)	8	2115	-		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)	527					B2RC20|Q8N322|Q9UDI9	Missense_Mutation	SNP	ENST00000264914.4	37	c.1579G>A	CCDS4043.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.510705	0.85389	0.0	1.16E-4	ENSG00000113273	ENST00000264914	D	0.96491	-4.03	5.3	5.3	0.74995	Alkaline-phosphatase-like, core domain (1);	0.053292	0.85682	D	0.000000	D	0.98362	0.9456	M	0.91663	3.23	0.80722	D	1	D	0.76494	0.999	D	0.63877	0.919	D	0.99267	1.0892	10	0.66056	D	0.02	.	17.9763	0.89128	0.0:1.0:0.0:0.0	.	527	P15848	ARSB_HUMAN	R	527	ENSP00000264914:G527R	ENSP00000264914:G527R	G	-	1	0	ARSB	78111999	1.000000	0.71417	0.467000	0.27180	0.726000	0.41606	6.534000	0.73833	2.476000	0.83614	0.555000	0.69702	GGG		0.532	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2	NM_000046		41	63	0	0	0	1	0	41	63				
PLCB4	5332	broad.mit.edu	37	20	9416276	9416276	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr20:9416276G>A	ENST00000378493.1	+	25	2573	c.2558G>A	c.(2557-2559)aGa>aAa	p.R853K	PLCB4_ENST00000378473.3_Missense_Mutation_p.R865K|PLCB4_ENST00000334005.3_Missense_Mutation_p.R853K|PLCB4_ENST00000378501.2_Missense_Mutation_p.R853K|PLCB4_ENST00000278655.4_Missense_Mutation_p.R853K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Missense_Mutation_p.R865K			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	853					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GACCAAATGAGAGCTATGGGC	0.368																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(2557-2559)aGa>aAa		phospholipase C, beta 4							95.0	105.0	102.0					20																	9416276		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9416276G>A		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2558G>A	20.37:g.9416276G>A	ENSP00000367754:p.Arg853Lys					PLCB4_ENST00000334005.3_Missense_Mutation_p.R853K|PLCB4_ENST00000378473.3_Missense_Mutation_p.R865K|PLCB4_ENST00000278655.4_Missense_Mutation_p.R853K|PLCB4_ENST00000414679.2_Missense_Mutation_p.R865K|PLCB4_ENST00000378493.1_Missense_Mutation_p.R853K|PLCB4_ENST00000492632.1_3'UTR	p.R853K	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			25	2573	+			853					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.2558G>A	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	G	8.208	0.799777	0.16397	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.19394	2.33;2.34;2.34;2.34;2.33;2.15	5.82	5.82	0.92795	.	0.045889	0.85682	D	0.000000	T	0.09905	0.0243	N	0.02842	-0.48	0.51482	D	0.999921	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.06405	0.001;0.002;0.001;0.002	T	0.18524	-1.0334	10	0.02654	T	1	.	20.1056	0.97893	0.0:0.0:1.0:0.0	.	865;700;853;853	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	K	853;865;853;853;853;701	ENSP00000334105:R853K;ENSP00000367734:R865K;ENSP00000278655:R853K;ENSP00000367754:R853K;ENSP00000367762:R853K;ENSP00000390616:R701K	ENSP00000278655:R853K	R	+	2	0	PLCB4	9364276	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.055000	0.76656	2.753000	0.94483	0.585000	0.79938	AGA		0.368	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			28	79	0	0	0	1	0	28	79				
SNHG14	104472715	broad.mit.edu	37	15	25470388	25470388	+	RNA	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr15:25470388G>A	ENST00000424208.1	+	0	6332				SNORD115-29_ENST00000362834.1_RNA|SNHG14_ENST00000453082.2_RNA|SNORD115-28_ENST00000363931.1_RNA|SNORD115-31_ENST00000365318.1_RNA|SNORD115-30_ENST00000364117.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		CTGAAGAGAGGTGATTATTTA	0.498																																						ENST00000453082.2																			0																				316.0	317.0	317.0					15																	25470388		876	1991	2867			104472715							g.chr15:25470388G>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25470388G>A						SNORD115-30_ENST00000364117.1_RNA		NR_003343.1						0	1061	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.498	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			71	133	0	0	0	1	0	71	133				
SLC5A8	160728	broad.mit.edu	37	12	101587457	101587457	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:101587457C>T	ENST00000536262.2	-	5	1196	c.638G>A	c.(637-639)gGa>gAa	p.G213E		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGTGCTGATTCCACCTTGCAT	0.398																																					GBM(60;420 1056 13605 22380 47675)	ENST00000536262.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(637-639)gGa>gAa		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8							161.0	150.0	154.0					12																	101587457		2203	4300	6503	SO:0001583	missense	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101587457C>T	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.638G>A	12.37:g.101587457C>T	ENSP00000445340:p.Gly213Glu						p.G213E	NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN			5	1196	-			213						Missense_Mutation	SNP	ENST00000536262.2	37	c.638G>A	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261628	0.80358	.	.	ENSG00000256870	ENST00000536262	D	0.91686	-2.89	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.97776	0.9270	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99041	1.0824	10	0.87932	D	0	.	19.2593	0.93961	0.0:1.0:0.0:0.0	.	213	Q8N695	SC5A8_HUMAN	E	213	ENSP00000445340:G213E	ENSP00000445340:G213E	G	-	2	0	SLC5A8	100111588	1.000000	0.71417	0.974000	0.42286	0.503000	0.33858	7.487000	0.81328	2.543000	0.85770	0.655000	0.94253	GGA		0.398	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		73	89	0	0	0	1	0	73	89				
C2orf54	79919	broad.mit.edu	37	2	241834961	241834961	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr2:241834961G>A	ENST00000388934.4	-	1	612	c.454C>T	c.(454-456)Ctc>Ttc	p.L152F		NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	152										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		AGGTCCTTGAGGACACACAGG	0.607																																						ENST00000388934.4																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6						c.(454-456)Ctc>Ttc		chromosome 2 open reading frame 54							24.0	28.0	26.0					2																	241834961		2196	4285	6481	SO:0001583	missense	79919							g.chr2:241834961G>A	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.454C>T	2.37:g.241834961G>A	ENSP00000373586:p.Leu152Phe						p.L152F	NM_001085437.1	NP_001078906.1	Q08AI8	CB054_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	1	612	-		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	152					B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Missense_Mutation	SNP	ENST00000388934.4	37	c.454C>T	CCDS42839.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.510829	0.27036	.	.	ENSG00000172478	ENST00000388934	T	0.04809	3.55	5.41	4.41	0.53225	.	0.146929	0.29410	N	0.012224	T	0.14657	0.0354	M	0.73598	2.24	0.36715	D	0.880885	D	0.89917	1.0	D	0.91635	0.999	T	0.14504	-1.0470	10	0.02654	T	1	0.507	10.6836	0.45830	0.1231:0.0:0.8769:0.0	.	152	Q08AI8	CB054_HUMAN	F	152	ENSP00000373586:L152F	ENSP00000373586:L152F	L	-	1	0	C2orf54	241483634	1.000000	0.71417	0.995000	0.50966	0.032000	0.12392	2.371000	0.44248	2.542000	0.85734	0.561000	0.74099	CTC		0.607	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324353.1	NM_024861, NM_001085437		6	14	0	0	0	1	0	6	14				
CC2D1A	54862	broad.mit.edu	37	19	14040932	14040932	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:14040932G>A	ENST00000318003.7	+	27	2993	c.2752G>A	c.(2752-2754)Gag>Aag	p.E918K	CC2D1A_ENST00000589606.1_Missense_Mutation_p.E917K	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	918					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GTTCTACACGGAGGCTGCCCG	0.687																																						ENST00000318003.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27						c.(2752-2754)Gag>Aag		coiled-coil and C2 domain containing 1A							22.0	26.0	25.0					19																	14040932		1965	4128	6093	SO:0001583	missense	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14040932G>A	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.2752G>A	19.37:g.14040932G>A	ENSP00000313601:p.Glu918Lys					CC2D1A_ENST00000589606.1_Missense_Mutation_p.E917K	p.E918K	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		27	2993	+			918					Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	ENST00000318003.7	37	c.2752G>A	CCDS42512.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.973939	0.92919	.	.	ENSG00000132024	ENST00000318003;ENST00000254346	T	0.18174	2.23	4.98	4.98	0.66077	.	0.212045	0.39083	N	0.001477	T	0.29158	0.0725	L	0.36672	1.1	0.38542	D	0.949237	D;D;D	0.69078	0.983;0.997;0.991	P;P;P	0.61800	0.701;0.894;0.777	T	0.03354	-1.1045	10	0.33141	T	0.24	-21.9024	17.0093	0.86401	0.0:0.0:1.0:0.0	.	539;917;918	Q9NX28;Q6P1N0-2;Q6P1N0	.;.;C2D1A_HUMAN	K	918;540	ENSP00000313601:E918K	ENSP00000254346:E540K	E	+	1	0	CC2D1A	13901932	1.000000	0.71417	0.917000	0.36280	0.943000	0.58893	3.479000	0.53165	2.304000	0.77564	0.561000	0.74099	GAG		0.687	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		8	21	0	0	0	1	0	8	21				
HENMT1	113802	broad.mit.edu	37	1	109197402	109197402	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:109197402G>T	ENST00000370032.5	-	5	754	c.334C>A	c.(334-336)Cat>Aat	p.H112N	HENMT1_ENST00000493676.1_5'UTR|HENMT1_ENST00000402983.1_Missense_Mutation_p.H112N|HENMT1_ENST00000370031.1_Missense_Mutation_p.H112N	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	112					gene silencing by RNA (GO:0031047)|piRNA metabolic process (GO:0034587)|RNA methylation (GO:0001510)	P granule (GO:0043186)	metal ion binding (GO:0046872)|O-methyltransferase activity (GO:0008171)|RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						ACGGAGCCATGATACAATGTG	0.383																																						ENST00000370032.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						c.(334-336)Cat>Aat		HEN1 methyltransferase homolog 1 (Arabidopsis)							89.0	81.0	84.0					1																	109197402		2203	4300	6503	SO:0001583	missense	113802				gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity	g.chr1:109197402G>T		CCDS787.1	1p13.3	2011-01-28	2011-01-28	2011-01-28	ENSG00000162639	ENSG00000162639			26400	protein-coding gene	gene with protein product	"""HEN1 methyltransferase homolog (Arabidopsis)"""	612178	"""chromosome 1 open reading frame 59"""	C1orf59			Standard	NM_144584		Approved	FLJ30525, HEN1	uc001dvt.4	Q5T8I9	OTTHUMG00000011123	ENST00000370032.5:c.334C>A	1.37:g.109197402G>T	ENSP00000359049:p.His112Asn					HENMT1_ENST00000370031.1_Missense_Mutation_p.H112N|HENMT1_ENST00000402983.1_Missense_Mutation_p.H112N|HENMT1_ENST00000493676.1_5'UTR	p.H112N	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN			5	754	-			112					A8MRR6|B1AM16|B1AM17|Q96EJ7|Q96NN0	Missense_Mutation	SNP	ENST00000370032.5	37	c.334C>A	CCDS787.1	.	.	.	.	.	.	.	.	.	.	G	8.741	0.918942	0.17982	.	.	ENSG00000162639	ENST00000402983;ENST00000370031;ENST00000370032;ENST00000420055	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.1	3.21	0.36854	.	0.449510	0.25807	N	0.028178	T	0.25382	0.0617	L	0.45470	1.425	0.30132	N	0.804716	D	0.53312	0.959	P	0.50049	0.629	T	0.05209	-1.0899	10	0.30854	T	0.27	-3.4927	9.9005	0.41344	0.0739:0.0:0.7869:0.1392	.	112	Q5T8I9	HENMT_HUMAN	N	112	ENSP00000385655:H112N;ENSP00000359048:H112N;ENSP00000359049:H112N;ENSP00000403953:H112N	ENSP00000359048:H112N	H	-	1	0	HENMT1	108998925	1.000000	0.71417	0.569000	0.28460	0.004000	0.04260	4.508000	0.60441	0.654000	0.30846	-0.145000	0.13849	CAT		0.383	HENMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030592.1	NM_144584		10	62	1	0	0.00010058	1	0.00010274	10	62				
ADRBK2	157	broad.mit.edu	37	22	26083563	26083563	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr22:26083563T>A	ENST00000324198.6	+	11	1078	c.886T>A	c.(886-888)Ttt>Att	p.F296I		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	296	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	GGAGATGCGGTTTTATGCCAC	0.428																																						ENST00000324198.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32						c.(886-888)Ttt>Att		adrenergic, beta, receptor kinase 2	Adenosine triphosphate(DB00171)						190.0	149.0	163.0					22																	26083563		2203	4300	6503	SO:0001583	missense	157						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	g.chr22:26083563T>A	X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"""Pleckstrin homology (PH) domain containing"""	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.886T>A	22.37:g.26083563T>A	ENSP00000317578:p.Phe296Ile						p.F296I	NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN			11	1078	+			296			Protein kinase.		Q9UGW9	Missense_Mutation	SNP	ENST00000324198.6	37	c.886T>A	CCDS13832.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.785804	0.90282	.	.	ENSG00000100077	ENST00000324198;ENST00000545323	T	0.65916	-0.18	4.71	4.71	0.59529	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73505	0.3595	L	0.55017	1.72	0.80722	D	1	D;D	0.64830	0.994;0.979	D;D	0.69307	0.963;0.938	T	0.76637	-0.2886	10	0.87932	D	0	-25.457	13.8081	0.63246	0.0:0.0:0.0:1.0	.	296;296	A8K869;P35626	.;ARBK2_HUMAN	I	296	ENSP00000317578:F296I	ENSP00000317578:F296I	F	+	1	0	ADRBK2	24413563	1.000000	0.71417	0.996000	0.52242	0.936000	0.57629	6.967000	0.76079	2.105000	0.64084	0.528000	0.53228	TTT		0.428	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317296.4	NM_005160		22	39	0	0	0	1	0	22	39				
DNAH1	25981	broad.mit.edu	37	3	52425293	52425293	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:52425293G>C	ENST00000420323.2	+	62	10101	c.9840G>C	c.(9838-9840)gaG>gaC	p.E3280D		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3345	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTCTCCTGGAGAACGTGGGCG	0.607																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(9838-9840)gaG>gaC		dynein, axonemal, heavy chain 1							31.0	35.0	33.0					3																	52425293		2158	4250	6408	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52425293G>C	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.9840G>C	3.37:g.52425293G>C	ENSP00000401514:p.Glu3280Asp						p.E3280D	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	62	10101	+			3345			AAA 5 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.9840G>C	CCDS46842.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.52|15.52	2.857547|2.857547	0.51376|0.51376	.|.	.|.	ENSG00000114841|ENSG00000114841	ENST00000420323;ENST00000273600|ENST00000480649	T|T	0.30448|0.32023	1.53|1.47	4.46|4.46	1.53|1.53	0.23141|0.23141	.|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000003|0.000003	T|T	0.54532|0.54532	0.1864|0.1864	M|M	0.92970|0.92970	3.365|3.365	0.47547|0.47547	D|D	0.999452|0.999452	D;D|.	0.89917|.	1.0;0.996|.	D;D|.	0.91635|.	0.999;0.987|.	T|T	0.57429|0.57429	-0.7813|-0.7813	10|8	0.87932|0.41790	D|T	0|0.15	.|.	9.3883|9.3883	0.38356|0.38356	0.2459:0.0:0.7541:0.0|0.2459:0.0:0.7541:0.0	.|.	3280;3345|.	C9JXH6;Q9P2D7-2|.	.;.|.	D|Q	3280;33|92	ENSP00000401514:E3280D|ENSP00000418688:E92Q	ENSP00000273600:E33D|ENSP00000418688:E92Q	E|E	+|+	3|1	2|0	DNAH1|DNAH1	52400333|52400333	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.338000|0.338000	0.28826|0.28826	2.120000|2.120000	0.41968|0.41968	0.480000|0.480000	0.27534|0.27534	0.655000|0.655000	0.94253|0.94253	GAG|GAA		0.607	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		7	17	0	0	0	1	0	7	17				
RPS6KA6	27330	broad.mit.edu	37	X	83361414	83361414	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:83361414G>A	ENST00000262752.2	-	15	1331	c.1324C>T	c.(1324-1326)Cga>Tga	p.R442*	RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Nonsense_Mutation_p.R442*	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	442	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TGTATGCATCGCTTGCAAACA	0.348																																						ENST00000262752.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						c.(1324-1326)Cga>Tga		ribosomal protein S6 kinase, 90kDa, polypeptide 6							124.0	91.0	102.0					X																	83361414		2203	4299	6502	SO:0001587	stop_gained	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83361414G>A	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1324C>T	X.37:g.83361414G>A	ENSP00000262752:p.Arg442*					RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Nonsense_Mutation_p.R442*	p.R442*	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN			15	1331	-			442			Protein kinase 2.		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Nonsense_Mutation	SNP	ENST00000262752.2	37	c.1324C>T	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	G	39	7.694677	0.98438	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8022	0.69924	0.0:0.0:0.8557:0.1443	.	.	.	.	X	442	.	ENSP00000262752:R442X	R	-	1	2	RPS6KA6	83248070	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	4.533000	0.60615	2.257000	0.74773	0.422000	0.28245	CGA		0.348	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		10	34	0	0	0	1	0	10	34				
ZNF354C	30832	broad.mit.edu	37	5	178505983	178505983	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:178505983G>C	ENST00000315475.6	+	5	856	c.550G>C	c.(550-552)Gaa>Caa	p.E184Q		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	184					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TGTTCCTATAGAAAGGATACC	0.353																																						ENST00000315475.6																			0				endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30						c.(550-552)Gaa>Caa		zinc finger protein 354C							66.0	72.0	70.0					5																	178505983		2203	4300	6503	SO:0001583	missense	30832				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178505983G>C		CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.550G>C	5.37:g.178505983G>C	ENSP00000324064:p.Glu184Gln						p.E184Q	NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)	5	856	+	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	184					Q6P4P9|Q8NFX1	Missense_Mutation	SNP	ENST00000315475.6	37	c.550G>C	CCDS4443.1	.	.	.	.	.	.	.	.	.	.	G	7.044	0.563131	0.13498	.	.	ENSG00000177932	ENST00000315475	T	0.05580	3.42	3.94	3.07	0.35406	.	.	.	.	.	T	0.06600	0.0169	L	0.48260	1.515	0.09310	N	1	P	0.37015	0.578	B	0.31337	0.128	T	0.25950	-1.0117	9	0.62326	D	0.03	-20.1578	9.3749	0.38277	0.1072:0.0:0.8928:0.0	.	184	Q86Y25	Z354C_HUMAN	Q	184	ENSP00000324064:E184Q	ENSP00000324064:E184Q	E	+	1	0	ZNF354C	178438589	0.109000	0.22037	0.022000	0.16811	0.129000	0.20672	1.829000	0.39121	0.981000	0.38548	0.591000	0.81541	GAA		0.353	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2			32	69	0	0	0	1	0	32	69				
TMIGD1	388364	broad.mit.edu	37	17	28644217	28644217	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr17:28644217G>C	ENST00000328886.4	-	6	851	c.779C>G	c.(778-780)aCa>aGa	p.T260R	TMIGD1_ENST00000538566.2_3'UTR	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	260						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						TTACAGAGCTGTTTCACTGTG	0.423																																						ENST00000328886.4																			0				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						c.(778-780)aCa>aGa		transmembrane and immunoglobulin domain containing 1							106.0	98.0	101.0					17																	28644217		2203	4300	6503	SO:0001583	missense	388364					integral to membrane		g.chr17:28644217G>C	AY358153	CCDS32605.1	17q11.2	2013-01-29	2006-07-05	2006-07-05		ENSG00000182271		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32431	protein-coding gene	gene with protein product				TMIGD		12975309	Standard	NM_206832		Approved	UNQ9372	uc002hfa.1	Q6UXZ0		ENST00000328886.4:c.779C>G	17.37:g.28644217G>C	ENSP00000332404:p.Thr260Arg					TMIGD1_ENST00000538566.2_3'UTR	p.T260R	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN			6	851	-			260					A8K2K1|Q6ZMC6	Missense_Mutation	SNP	ENST00000328886.4	37	c.779C>G	CCDS32605.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.899174	0.72754	.	.	ENSG00000182271	ENST00000328886	T	0.67345	-0.26	5.49	5.49	0.81192	.	0.067827	0.64402	D	0.000015	T	0.79667	0.4485	M	0.61703	1.905	0.42256	D	0.991994	D	0.89917	1.0	D	0.83275	0.996	T	0.81195	-0.1043	10	0.87932	D	0	-4.2069	15.2339	0.73413	0.0:0.0:1.0:0.0	.	260	Q6UXZ0	TMIG1_HUMAN	R	260	ENSP00000332404:T260R	ENSP00000332404:T260R	T	-	2	0	TMIGD1	25668343	1.000000	0.71417	0.996000	0.52242	0.864000	0.49448	3.528000	0.53524	2.750000	0.94351	0.563000	0.77884	ACA		0.423	TMIGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447955.1	NM_206832		31	75	0	0	0	1	0	31	75				
GRAMD4	23151	broad.mit.edu	37	22	47071407	47071407	+	Silent	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr22:47071407G>A	ENST00000406902.1	+	17	1734	c.1521G>A	c.(1519-1521)agG>agA	p.R507R	GRAMD4_ENST00000361034.3_Silent_p.R507R|GRAMD4_ENST00000408031.1_Silent_p.R30R			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	507	GRAM.				apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		CCTCAAAGAGGAACAAAGTCA	0.552																																						ENST00000406902.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12						c.(1519-1521)agG>agA		GRAM domain containing 4							145.0	134.0	138.0					22																	47071407		2203	4300	6503	SO:0001819	synonymous_variant	23151				apoptosis	integral to membrane|mitochondrial membrane		g.chr22:47071407G>A		CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"""death-inducing-protein"""	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.1521G>A	22.37:g.47071407G>A						GRAMD4_ENST00000408031.1_Silent_p.R30R|GRAMD4_ENST00000361034.3_Silent_p.R507R	p.R507R			Q6IC98	GRAM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)	17	1734	+		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)	507			GRAM.		A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Silent	SNP	ENST00000406902.1	37	c.1521G>A	CCDS33672.1																																																																																				0.552	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317969.1	NM_015124		76	109	0	0	0	1	0	76	109				
SLC9A3	6550	broad.mit.edu	37	5	484663	484663	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:484663C>T	ENST00000264938.3	-	5	913	c.904G>A	c.(904-906)Gag>Aag	p.E302K	SLC9A3_ENST00000514375.1_Missense_Mutation_p.E302K	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	302					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GACAGCATCTCGGACGTCAGG	0.632																																						ENST00000264938.3																			0				NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(904-906)Gag>Aag		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3							162.0	119.0	134.0					5																	484663		2202	4300	6502	SO:0001583	missense	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:484663C>T		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.904G>A	5.37:g.484663C>T	ENSP00000264938:p.Glu302Lys					SLC9A3_ENST00000514375.1_Missense_Mutation_p.E302K	p.E302K	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		5	913	-			302					B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	ENST00000264938.3	37	c.904G>A	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082965	0.76642	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.21734	1.99;1.99	4.16	4.16	0.48862	Cation/H+ exchanger (1);	0.192741	0.45867	D	0.000336	T	0.60287	0.2257	H	0.96208	3.785	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.76457	-0.2952	10	0.87932	D	0	.	16.0722	0.80943	0.0:1.0:0.0:0.0	.	302;302	E9PF67;P48764	.;SL9A3_HUMAN	K	302	ENSP00000264938:E302K;ENSP00000422983:E302K	ENSP00000264938:E302K	E	-	1	0	SLC9A3	537663	1.000000	0.71417	0.867000	0.34043	0.165000	0.22458	5.670000	0.68088	1.856000	0.53863	0.561000	0.74099	GAG		0.632	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		18	117	0	0	0	1	0	18	117				
CEP57L1	285753	broad.mit.edu	37	6	109480484	109480484	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr6:109480484C>T	ENST00000517392.1	+	9	1261	c.835C>T	c.(835-837)Cgt>Tgt	p.R279C	CEP57L1_ENST00000520883.1_Intron|CEP57L1_ENST00000523787.1_Missense_Mutation_p.R282C|CEP57L1_ENST00000359793.3_Missense_Mutation_p.R279C|CEP57L1_ENST00000368968.2_Missense_Mutation_p.R279C|CEP57L1_ENST00000336977.4_Intron|CEP57L1_ENST00000521522.1_Intron|CEP57L1_ENST00000407272.1_Missense_Mutation_p.R279C|CEP57L1_ENST00000368970.2_Missense_Mutation_p.R296C	NM_001271852.1|NM_001271853.1	NP_001258781.1|NP_001258782.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	279					microtubule anchoring (GO:0034453)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						GAGGCAACATCGTGACCCACA	0.403																																						ENST00000407272.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						c.(835-837)Cgt>Tgt		centrosomal protein 57kDa-like 1							103.0	92.0	96.0					6																	109480484		2203	4300	6503	SO:0001583	missense	285753					microtubule|microtubule organizing center		g.chr6:109480484C>T	AK092723	CCDS5071.1, CCDS64491.1	6q21	2014-01-28	2010-09-30	2010-09-30	ENSG00000183137	ENSG00000183137			21561	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 182"""	C6orf182			Standard	NM_001083535		Approved	bA487F23.2, MGC21731	uc003psy.4	Q8IYX8	OTTHUMG00000015336	ENST00000517392.1:c.835C>T	6.37:g.109480484C>T	ENSP00000427844:p.Arg279Cys					CEP57L1_ENST00000520883.1_Intron|CEP57L1_ENST00000368968.2_Missense_Mutation_p.R279C|CEP57L1_ENST00000517392.1_Missense_Mutation_p.R279C|CEP57L1_ENST00000523787.1_Missense_Mutation_p.R282C|CEP57L1_ENST00000336977.4_Intron|CEP57L1_ENST00000368970.2_Missense_Mutation_p.R296C|CEP57L1_ENST00000521522.1_Intron|CEP57L1_ENST00000359793.3_Missense_Mutation_p.R279C	p.R279C	NM_001083535.1	NP_001077004.1	Q8IYX8	CE57L_HUMAN			11	1412	+			279					G5E992	Missense_Mutation	SNP	ENST00000517392.1	37	c.835C>T	CCDS5071.1	.	.	.	.	.	.	.	.	.	.	C	8.362	0.833388	0.16820	.	.	ENSG00000183137	ENST00000517392;ENST00000407272;ENST00000368968;ENST00000522490;ENST00000368970;ENST00000523787;ENST00000359793;ENST00000523174	T;T;T;T;T;T;T	0.48201	0.93;0.93;0.93;0.82;0.9;0.93;0.93	4.58	-4.16	0.03869	.	1.544180	0.03251	N	0.181923	T	0.09949	0.0244	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.04013	0.001;0.001	T	0.30679	-0.9970	10	0.66056	D	0.02	5.9997	5.8295	0.18572	0.1243:0.5605:0.1406:0.1745	.	279;279	Q8IYX8;G5E992	CE57L_HUMAN;.	C	279;279;279;158;296;282;279;60	ENSP00000427844:R279C;ENSP00000383936:R279C;ENSP00000357964:R279C;ENSP00000429957:R158C;ENSP00000357966:R296C;ENSP00000430529:R282C;ENSP00000352841:R279C	ENSP00000352841:R279C	R	+	1	0	CEP57L1	109587177	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	0.408000	0.21065	-0.565000	0.06061	-1.107000	0.02091	CGT		0.403	CEP57L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041734.4	NM_173830		47	108	0	0	0	1	0	47	108				
HS2ST1	9653	broad.mit.edu	37	1	87538628	87538628	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:87538628G>A	ENST00000370550.5	+	2	499	c.136G>A	c.(136-138)Gca>Aca	p.A46T	HS2ST1_ENST00000356813.4_Missense_Mutation_p.A20T|HS2ST1_ENST00000370551.4_Missense_Mutation_p.A46T|RP5-1052I5.2_ENST00000370548.2_Missense_Mutation_p.A20T	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	46					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		AAGGGCTATTGCAAGACACGA	0.398																																						ENST00000370550.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9						c.(136-138)Gca>Aca		heparan sulfate 2-O-sulfotransferase 1							59.0	55.0	56.0					1																	87538628		2203	4300	6503	SO:0001583	missense	9653					Golgi membrane|integral to membrane		g.chr1:87538628G>A	AB007917	CCDS711.1, CCDS44171.1	1p22.3	2008-02-05			ENSG00000153936	ENSG00000153936		"""Sulfotransferases, membrane-bound"""	5193	protein-coding gene	gene with protein product		604844				9455484	Standard	NM_012262		Approved	KIAA0448	uc010osk.2	Q7LGA3	OTTHUMG00000010255	ENST00000370550.5:c.136G>A	1.37:g.87538628G>A	ENSP00000359581:p.Ala46Thr					RP5-1052I5.2_ENST00000370548.2_Missense_Mutation_p.A20T|HS2ST1_ENST00000356813.4_Missense_Mutation_p.A20T|HS2ST1_ENST00000370551.4_Missense_Mutation_p.A46T	p.A46T	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN		all cancers(265;0.00699)|Epithelial(280;0.0261)	2	499	+		Lung NSC(277;0.153)	46					D3DT22|O75036|Q32NB5|Q8TAC5|Q9H441|Q9NUJ9	Missense_Mutation	SNP	ENST00000370550.5	37	c.136G>A	CCDS711.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771037	0.69992	.	.	ENSG00000153936	ENST00000370551;ENST00000370550;ENST00000370548;ENST00000356813	.	.	.	5.08	5.08	0.68730	.	0.099352	0.64402	D	0.000002	T	0.28566	0.0707	L	0.29908	0.895	0.80722	D	1	B;P	0.41450	0.006;0.75	B;B	0.33690	0.003;0.168	T	0.17289	-1.0374	9	0.42905	T	0.14	-6.6706	18.6755	0.91528	0.0:0.0:1.0:0.0	.	46;20	Q7LGA3;Q7LGA3-2	HS2ST_HUMAN;.	T	46;46;20;20	.	ENSP00000349268:A20T	A	+	1	0	HS2ST1	87311216	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.721000	0.84768	2.623000	0.88846	0.557000	0.71058	GCA		0.398	HS2ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028279.2	NM_012262		14	42	0	0	0	1	0	14	42				
HSD17B13	345275	broad.mit.edu	37	4	88231424	88231424	+	Silent	SNP	C	C	T	rs113762141	byFrequency	TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr4:88231424C>T	ENST00000328546.4	-	6	847	c.783G>A	c.(781-783)tcG>tcA	p.S261S	HSD17B13_ENST00000302219.6_Silent_p.S225S	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	261						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		TATTGATATACGATGGAACAA	0.308													T|||	4	0.000798722	0.003	0.0	5008	,	,		15383	0.0		0.0	False		,,,				2504	0.0					ENST00000328546.4																			0				endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8						c.(781-783)tcG>tcA		hydroxysteroid (17-beta) dehydrogenase 13		T	,	7,4397	824.0+/-416.5	0,7,2195	103.0	105.0	105.0		675,783	-6.7	0.0	4	dbSNP_132	105	2,8598	818.2+/-406.9	0,2,4298	no	coding-synonymous,coding-synonymous	HSD17B13	NM_001136230.1,NM_178135.3	,	0,9,6493	TT,TC,CC		0.0233,0.1589,0.0692	,	225/265,261/301	88231424	9,12995	2202	4300	6502	SO:0001819	synonymous_variant	345275					extracellular region	binding|oxidoreductase activity	g.chr4:88231424C>T		CCDS3618.1, CCDS47097.1	4q22.1	2011-09-20			ENSG00000170509	ENSG00000170509	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	18685	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 3"""	612127				19027726	Standard	NM_178135		Approved	SCDR9, SDR16C3	uc003hqo.2	Q7Z5P4	OTTHUMG00000130602	ENST00000328546.4:c.783G>A	4.37:g.88231424C>T						HSD17B13_ENST00000302219.6_Silent_p.S225S	p.S261S	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000308)	6	847	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	261					A8K9R9|Q2M1L5|Q86W22|Q86W23	Silent	SNP	ENST00000328546.4	37	c.783G>A	CCDS3618.1																																																																																				0.308	HSD17B13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253052.1	NM_178135		31	79	0	0	0	1	0	31	79				
OR2T2	401992	broad.mit.edu	37	1	248616452	248616452	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:248616452C>T	ENST00000342927.3	+	1	376	c.354C>T	c.(352-354)ctC>ctT	p.L118L		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGCTGGGTCTCATGGCCTATG	0.547																																						ENST00000342927.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37						c.(352-354)ctC>ctT		olfactory receptor, family 2, subfamily T, member 2							117.0	134.0	128.0					1																	248616452		2203	4298	6501	SO:0001819	synonymous_variant	401992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248616452C>T	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.354C>T	1.37:g.248616452C>T							p.L118L	NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	376	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		118					B2RNM1|B9EH01	Silent	SNP	ENST00000342927.3	37	c.354C>T	CCDS31116.1																																																																																				0.547	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		19	246	0	0	0	1	0	19	246				
STS	412	broad.mit.edu	37	X	7268021	7268021	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:7268021G>A	ENST00000217961.4	+	10	1691	c.1471G>A	c.(1471-1473)Ggg>Agg	p.G491R		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	491					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	CTTCTGTTTCGGGAGTTATGT	0.507									Ichthyosis																													ENST00000217961.4																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27						c.(1471-1473)Ggg>Agg		steroid sulfatase (microsomal), isozyme S	Estrone(DB00655)						100.0	87.0	91.0					X																	7268021		2203	4299	6502	SO:0001583	missense	412	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity	g.chrX:7268021G>A	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"""Arylsulfatase family"""	11425	protein-coding gene	gene with protein product	"""arylsulfatase C"""	300747	"""steroid sulfatase (microsomal), arylsulfatase C, isozyme S"""	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.1471G>A	X.37:g.7268021G>A	ENSP00000217961:p.Gly491Arg						p.G491R	NM_000351.4	NP_000342.2	P08842	STS_HUMAN			10	1691	+		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	491					B2RA47	Missense_Mutation	SNP	ENST00000217961.4	37	c.1471G>A	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.014731	0.54468	.	.	ENSG00000101846	ENST00000217961	D	0.90788	-2.73	4.22	4.22	0.49857	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.828425	0.11206	N	0.588204	D	0.94850	0.8336	M	0.79475	2.455	0.09310	N	1	D	0.71674	0.998	D	0.65140	0.932	D	0.87835	0.2647	10	0.66056	D	0.02	.	14.6151	0.68541	0.0:0.0:1.0:0.0	.	491	P08842	STS_HUMAN	R	491	ENSP00000217961:G491R	ENSP00000217961:G491R	G	+	1	0	STS	7278021	0.844000	0.29557	0.012000	0.15200	0.007000	0.05969	2.995000	0.49441	1.720000	0.51447	0.600000	0.82982	GGG		0.507	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	NM_000351		55	142	0	0	0	1	0	55	142				
STRAP	11171	broad.mit.edu	37	12	16052888	16052888	+	Missense_Mutation	SNP	G	G	C	rs374693662		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:16052888G>C	ENST00000419869.2	+	8	1139	c.826G>C	c.(826-828)Gat>Cat	p.D276H	STRAP_ENST00000025399.6_Missense_Mutation_p.D289H|STRAP_ENST00000538352.1_Missense_Mutation_p.D182H	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	276					maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|spliceosomal snRNP assembly (GO:0000387)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				ATTTAGTCCTGATGGAGAACT	0.393																																						ENST00000419869.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15						c.(826-828)Gat>Cat		serine/threonine kinase receptor associated protein							117.0	114.0	115.0					12																	16052888		2203	4300	6503	SO:0001583	missense	11171				mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding	g.chr12:16052888G>C	AB024327	CCDS8676.1	12p13.1	2013-01-10			ENSG00000023734	ENSG00000023734		"""WD repeat domain containing"""	30796	protein-coding gene	gene with protein product	"""Unr-interacting protein"""	605986					Standard	NM_007178		Approved	UNRIP, pt-wd, MAWD	uc001rdc.4	Q9Y3F4	OTTHUMG00000168791	ENST00000419869.2:c.826G>C	12.37:g.16052888G>C	ENSP00000392270:p.Asp276His					STRAP_ENST00000538352.1_Missense_Mutation_p.D182H|STRAP_ENST00000025399.6_Missense_Mutation_p.D289H	p.D276H	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN			8	1139	+		Hepatocellular(102;0.121)	276					B2R5S5|B4DNJ6|Q5TZT4|Q9NTK0|Q9UQC8	Missense_Mutation	SNP	ENST00000419869.2	37	c.826G>C	CCDS8676.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.1|25.1	4.602990|4.602990	0.87157|0.87157	.|.	.|.	ENSG00000023734|ENSG00000023734	ENST00000538352;ENST00000025399;ENST00000419869|ENST00000538718	T;T;T|.	0.64085|.	0.4;-0.08;-0.08|.	4.65|4.65	4.65|4.65	0.58169|0.58169	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.111909|.	0.64402|.	D|.	0.000004|.	T|.	0.70596|.	0.3242|.	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|.	0.68311|.	-0.5442|.	10|.	0.87932|.	D|.	0|.	-23.8066|-23.8066	18.1329|18.1329	0.89608|0.89608	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	289;276|.	B4DNJ6;Q9Y3F4|.	.;STRAP_HUMAN|.	H|S	182;289;276|42	ENSP00000439761:D182H;ENSP00000025399:D289H;ENSP00000392270:D276H|.	ENSP00000025399:D289H|.	D|X	+|+	1|2	0|2	STRAP|STRAP	15944155|15944155	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.037000|9.037000	0.93765|0.93765	2.596000|2.596000	0.87737|0.87737	0.650000|0.650000	0.86243|0.86243	GAT|TGA		0.393	STRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401114.1	NM_007178		45	76	0	0	0	1	0	45	76				
KDM2B	84678	broad.mit.edu	37	12	121880818	121880818	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:121880818C>T	ENST00000377071.4	-	18	2653	c.2581G>A	c.(2581-2583)Gaa>Aaa	p.E861K	KDM2B_ENST00000542973.1_Missense_Mutation_p.E229K|KDM2B_ENST00000377069.4_Missense_Mutation_p.E792K|KDM2B_ENST00000536437.1_Intron	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	861					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						AGCTTATCTTCTTTGCCAGGT	0.592																																						ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(2374-2376)Gaa>Aaa		lysine (K)-specific demethylase 2B							85.0	94.0	91.0					12																	121880818		1913	4118	6031	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121880818C>T	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.2581G>A	12.37:g.121880818C>T	ENSP00000366271:p.Glu861Lys					KDM2B_ENST00000377071.4_Missense_Mutation_p.E861K|KDM2B_ENST00000542973.1_Missense_Mutation_p.E229K|KDM2B_ENST00000536437.1_Intron	p.E792K	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			17	2780	-			861					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.2374G>A	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.189540	0.78789	.	.	ENSG00000089094	ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.23950	2.18;2.37;1.88	6.07	5.18	0.71444	.	0.502221	0.18595	N	0.136625	T	0.20373	0.0490	L	0.28274	0.84	0.80722	D	1	B;B;B;B	0.26635	0.155;0.155;0.155;0.155	B;B;B;B	0.24155	0.021;0.051;0.051;0.051	T	0.02942	-1.1091	10	0.44086	T	0.13	-10.8476	14.1244	0.65210	0.0:0.9278:0.0:0.0722	.	301;861;792;304	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	K	229;792;861;304;864	ENSP00000437821:E229K;ENSP00000366269:E792K;ENSP00000366271:E861K	ENSP00000261824:E864K	E	-	1	0	KDM2B	120365201	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.087000	0.50167	1.578000	0.49821	0.655000	0.94253	GAA		0.592	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		15	15	0	0	0	1	0	15	15				
ACP5	54	broad.mit.edu	37	19	11687634	11687634	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:11687634C>G	ENST00000592828.1	-	5	688	c.286G>C	c.(286-288)Gac>Cac	p.D96H	ACP5_ENST00000218758.5_Missense_Mutation_p.D96H|ACP5_ENST00000433365.2_Missense_Mutation_p.D96H|ACP5_ENST00000590420.1_Intron|ACP5_ENST00000412435.2_Missense_Mutation_p.D96H	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	96					bone morphogenesis (GO:0060349)|bone resorption (GO:0045453)|defense response to Gram-positive bacterium (GO:0050830)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of superoxide anion generation (GO:0032929)|negative regulation of tumor necrosis factor production (GO:0032720)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	acid phosphatase activity (GO:0003993)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						AGGGAGCGGTCAGAGAATACG	0.547																																						ENST00000592828.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						c.(286-288)Gac>Cac		acid phosphatase 5, tartrate resistant							143.0	128.0	133.0					19																	11687634		2203	4300	6503	SO:0001583	missense	54				water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding	g.chr19:11687634C>G	X14618	CCDS12265.1	19p13.2	2012-10-02			ENSG00000102575	ENSG00000102575	3.1.3.2		124	protein-coding gene	gene with protein product	"""tartrate-resistant acid phosphatase"""	171640				8449511, 2338077	Standard	NM_001611		Approved	TRAP	uc002msj.4	P13686	OTTHUMG00000182036	ENST00000592828.1:c.286G>C	19.37:g.11687634C>G	ENSP00000468767:p.Asp96His					ACP5_ENST00000218758.5_Missense_Mutation_p.D96H|ACP5_ENST00000433365.2_Missense_Mutation_p.D96H|ACP5_ENST00000412435.2_Missense_Mutation_p.D96H|ACP5_ENST00000590420.1_Intron	p.D96H	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN			5	688	-			96					A8K3V2|Q2TAB1|Q6IAS6|Q9UCJ5|Q9UCJ6|Q9UCJ7	Missense_Mutation	SNP	ENST00000592828.1	37	c.286G>C	CCDS12265.1	.	.	.	.	.	.	.	.	.	.	c	3.388	-0.124944	0.06795	.	.	ENSG00000102575	ENST00000218758;ENST00000412435;ENST00000433365	T;T;T	0.69040	-0.37;-0.37;-0.37	4.87	3.84	0.44239	Metallophosphoesterase domain (1);	0.503195	0.21718	N	0.070173	T	0.46521	0.1397	N	0.11284	0.12	0.28162	N	0.928959	B	0.14012	0.009	B	0.13407	0.009	T	0.38499	-0.9658	10	0.36615	T	0.2	-18.2443	12.0293	0.53390	0.0:0.9131:0.0:0.0869	.	96	P13686	PPA5_HUMAN	H	96	ENSP00000218758:D96H;ENSP00000392374:D96H;ENSP00000413456:D96H	ENSP00000218758:D96H	D	-	1	0	ACP5	11548634	0.000000	0.05858	0.046000	0.18839	0.033000	0.12548	0.961000	0.29267	1.047000	0.40274	-0.136000	0.14681	GAC		0.547	ACP5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458881.1			36	108	0	0	0	1	0	36	108				
FGFR3	2261	broad.mit.edu	37	4	1808852	1808852	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr4:1808852G>C	ENST00000260795.2	+	17	2386	c.2284G>C	c.(2284-2286)Gac>Cac	p.D762H	FGFR3_ENST00000412135.2_Missense_Mutation_p.D650H|FGFR3_ENST00000481110.2_Missense_Mutation_p.G739A|FGFR3_ENST00000440486.2_Missense_Mutation_p.D762H|FGFR3_ENST00000352904.1_Missense_Mutation_p.D650H|FGFR3_ENST00000340107.4_Missense_Mutation_p.D764H			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	762					alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	GGAGTACCTGGACCTGTCGGC	0.701		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													ENST00000340107.4		1		Dom	yes		4	4p16.3	2261	"""Mis, T"""	fibroblast growth factor receptor 3	yes	"""Hypochondroplasia, Thanatophoric dysplasia"""	"""L, E"""	"""IGH@, ETV6"""		"""bladder, MM, T-cell lymphoma"""		0				NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091						c.(2290-2292)Gac>Cac		fibroblast growth factor receptor 3	Palifermin(DB00039)						19.0	19.0	19.0					4																	1808852		2180	4282	6462	SO:0001583	missense	2261	Saethre-Chotzen syndrome;Muenke syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1808852G>C	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.2284G>C	4.37:g.1808852G>C	ENSP00000260795:p.Asp762His					FGFR3_ENST00000352904.1_Missense_Mutation_p.D650H|FGFR3_ENST00000440486.2_Missense_Mutation_p.D762H|FGFR3_ENST00000260795.2_Missense_Mutation_p.D762H|FGFR3_ENST00000412135.2_Missense_Mutation_p.D650H|FGFR3_ENST00000481110.2_Missense_Mutation_p.G739A	p.D764H	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		18	2546	+		Breast(71;0.212)|all_epithelial(65;0.241)	762					D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.2290G>C	CCDS3353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	20.4|20.4	3.987054|3.987054	0.74589|0.74589	.|.	.|.	ENSG00000068078|ENSG00000068078	ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904;ENST00000312875|ENST00000481110	D;D;D;D;D|T	0.85861|0.78364	-2.04;-2.04;-2.04;-2.04;-2.04|-1.17	4.53|4.53	4.53|4.53	0.55603|0.55603	Protein kinase-like domain (1);|.	.|0.684834	.|0.14559	.|N	.|0.312198	D|D	0.87553|0.87553	0.6206|0.6206	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	D;D;D|D	0.89917|0.89917	0.999;1.0;1.0|1.0	D;D;D|D	0.80764|0.91635	0.974;0.994;0.942|0.999	D|D	0.88282|0.88282	0.2937|0.2937	9|10	0.87932|0.87932	D|D	0|0	.|.	17.6104|17.6104	0.88051|0.88051	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	764;650;762|739	P22607-2;P22607-3;P22607|F8W9L4	.;.;FGFR3_HUMAN|.	H|A	764;762;650;762;650;4|739	ENSP00000339824:D764H;ENSP00000414914:D762H;ENSP00000412903:D650H;ENSP00000260795:D762H;ENSP00000231803:D650H|ENSP00000420533:G739A	ENSP00000260795:D762H|ENSP00000420533:G739A	D|G	+|+	1|2	0|0	FGFR3|FGFR3	1778650|1778650	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.848000|0.848000	0.48234|0.48234	9.439000|9.439000	0.97543|0.97543	2.218000|2.218000	0.71995|0.71995	0.511000|0.511000	0.50034|0.50034	GAC|GGA		0.701	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		3	8	0	0	0	1	0	3	8				
NXPE4	54827	broad.mit.edu	37	11	114453064	114453064	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr11:114453064G>A	ENST00000375478.3	-	3	956	c.776C>T	c.(775-777)tCt>tTt	p.S259F	NXPE4_ENST00000424261.2_Intron	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	259						extracellular vesicular exosome (GO:0070062)											CTTGTTCTTAGAATACATGTG	0.398																																						ENST00000375478.3																			0											c.(775-777)tCt>tTt		neurexophilin and PC-esterase domain family, member 4							102.0	98.0	99.0					11																	114453064		1950	4164	6114	SO:0001583	missense	54827							g.chr11:114453064G>A	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 33"", ""family with sequence similarity 55, member D"""	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.776C>T	11.37:g.114453064G>A	ENSP00000364627:p.Ser259Phe					NXPE4_ENST00000424261.2_Intron	p.S259F	NM_001077639.1	NP_001071107.1					3	956	-								Q6QDB4|Q9NXP5	Missense_Mutation	SNP	ENST00000375478.3	37	c.776C>T	CCDS41718.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217400	0.39201	.	.	ENSG00000137634	ENST00000375478	T	0.12774	2.65	5.16	5.16	0.70880	.	0.240625	0.29932	N	0.010839	T	0.35941	0.0949	M	0.83483	2.645	0.42359	D	0.992407	D	0.63880	0.993	D	0.67725	0.953	T	0.19811	-1.0294	10	0.13470	T	0.59	.	14.5352	0.67955	0.0:0.0:1.0:0.0	.	259	Q6UWF7	FA55D_HUMAN	F	259	ENSP00000364627:S259F	ENSP00000364627:S259F	S	-	2	0	FAM55D	113958274	0.991000	0.36638	0.590000	0.28732	0.018000	0.09664	2.384000	0.44362	2.556000	0.86216	0.591000	0.81541	TCT		0.398	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678		40	56	0	0	0	1	0	40	56				
RAPGEF3	10411	broad.mit.edu	37	12	48137435	48137435	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:48137435T>G	ENST00000449771.2	-	18	1791	c.1703A>C	c.(1702-1704)gAc>gCc	p.D568A	RAPGEF3_ENST00000549151.1_Missense_Mutation_p.D526A|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.D526A|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.D568A|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000405493.2_Missense_Mutation_p.D526A|RAPGEF3_ENST00000548919.1_Intron			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	568					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CACTGAGTGGTCTGGCCGGCA	0.627																																						ENST00000405493.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25						c.(1576-1578)gAc>gCc		Rap guanine nucleotide exchange factor (GEF) 3							62.0	52.0	55.0					12																	48137435		2203	4300	6503	SO:0001583	missense	10411				regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	g.chr12:48137435T>G	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"""exchange protein directly activated by cAMP 1"""	606057	"""RAP guanine-nucleotide-exchange factor (GEF) 3"""			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.1703A>C	12.37:g.48137435T>G	ENSP00000395708:p.Asp568Ala					RAPGEF3_ENST00000171000.4_Missense_Mutation_p.D526A|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.D526A|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.D568A|RAPGEF3_ENST00000548919.1_Intron|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.D568A	p.D526A	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN		GBM - Glioblastoma multiforme(48;0.0375)	18	1786	-	Lung SC(27;0.192)		526					A8K2G5|E7EQC8|O95634|Q8WVN0	Missense_Mutation	SNP	ENST00000449771.2	37	c.1577A>C	CCDS41775.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.935812	0.73442	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000541821;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212	T;T;T;T;T	0.74842	-0.87;-0.88;-0.87;-0.87;-0.88	5.37	5.37	0.77165	Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.79701	0.4491	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.81955	-0.0696	10	0.87932	D	0	.	13.6249	0.62159	0.0:0.0:0.0:1.0	.	568	O95398	RPGF3_HUMAN	A	526;568;215;526;526;526;568	ENSP00000384521:D526A;ENSP00000395708:D568A;ENSP00000448619:D526A;ENSP00000171000:D526A;ENSP00000373864:D568A	ENSP00000171000:D526A	D	-	2	0	RAPGEF3	46423702	1.000000	0.71417	0.997000	0.53966	0.548000	0.35241	5.300000	0.65721	2.173000	0.68751	0.533000	0.62120	GAC		0.627	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105		15	26	0	0	0	1	0	15	26				
PPP1R3F	89801	broad.mit.edu	37	X	49142813	49142813	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:49142813C>T	ENST00000055335.6	+	4	1677	c.1661C>T	c.(1660-1662)aCg>aTg	p.T554M	PPP1R3F_ENST00000376188.1_Missense_Mutation_p.T208M|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.T208M|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.T208M|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.T225M	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	554					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					GAGGAGATCACGCTGCACTAT	0.647																																						ENST00000055335.6																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27						c.(1660-1662)aCg>aTg		protein phosphatase 1, regulatory subunit 3F							23.0	20.0	21.0					X																	49142813		2201	4295	6496	SO:0001583	missense	89801					integral to membrane		g.chrX:49142813C>T		CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14944	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3F"""			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.1661C>T	X.37:g.49142813C>T	ENSP00000055335:p.Thr554Met					PPP1R3F_ENST00000495799.1_Missense_Mutation_p.T208M|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.T208M|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.T225M|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.T208M	p.T554M	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN			4	1677	+	Ovarian(276;0.236)		554					A2VDJ8|B3KPW2|E9PCM3	Missense_Mutation	SNP	ENST00000055335.6	37	c.1661C>T	CCDS35254.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262676	0.59431	.	.	ENSG00000049769	ENST00000466508;ENST00000438316;ENST00000055335;ENST00000495799;ENST00000376188	T;T;T;T;T	0.68181	0.14;0.14;-0.31;0.14;0.14	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000020	T	0.73426	0.3585	L	0.32530	0.975	0.35106	D	0.765732	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	T	0.81335	-0.0979	10	0.87932	D	0	-2.5422	13.5798	0.61896	0.0:1.0:0.0:0.0	.	225;239;554	F5H262;A2VDJ8;Q6ZSY5	.;.;PPR3F_HUMAN	M	208;225;554;208;208	ENSP00000420687:T208M;ENSP00000415548:T225M;ENSP00000055335:T554M;ENSP00000417535:T208M;ENSP00000365359:T208M	ENSP00000055335:T554M	T	+	2	0	PPP1R3F	49029757	0.978000	0.34361	0.942000	0.38095	0.911000	0.54048	3.950000	0.56676	2.272000	0.75746	0.513000	0.50165	ACG		0.647	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215		16	39	0	0	0	1	0	16	39				
DBH	1621	broad.mit.edu	37	9	136518063	136518063	+	Splice_Site	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:136518063G>A	ENST00000393056.2	+	9	1388	c.1376G>A	c.(1375-1377)gGa>gAa	p.G459E	DBH-AS1_ENST00000425189.1_RNA	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	459					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	TTTCCTCAGGGAGATGTGCTC	0.632																																						ENST00000393056.2																			0				central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.e9-1		dopamine beta-hydroxylase (dopamine beta-monooxygenase)	Dopamine(DB00988)|Vitamin C(DB00126)						107.0	88.0	94.0					9																	136518063		2203	4300	6503	SO:0001630	splice_region_variant	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136518063G>A	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.1375-1G>A	9.37:g.136518063G>A							p.G459_splice	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	9	1388	+			459					Q5T381|Q96AG2	Splice_Site	SNP	ENST00000393056.2	37	c.1374_splice	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637331	0.67130	.	.	ENSG00000123454	ENST00000393056	D	0.90676	-2.71	4.74	4.74	0.60224	PHM/PNGase F domain (1);Copper type II, ascorbate-dependent monooxygenase-like, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96300	0.8793	M	0.91768	3.24	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.97317	0.9941	10	0.72032	D	0.01	-10.7499	17.7224	0.88356	0.0:0.0:1.0:0.0	.	459	P09172	DOPO_HUMAN	E	459	ENSP00000376776:G459E	ENSP00000376776:G459E	G	+	2	0	DBH	135507884	1.000000	0.71417	0.996000	0.52242	0.456000	0.32438	8.916000	0.92745	2.187000	0.69744	0.491000	0.48974	GGA		0.632	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787	Missense_Mutation	30	61	0	0	0	1	0	30	61				
SUPT16H	11198	broad.mit.edu	37	14	21829239	21829239	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr14:21829239C>T	ENST00000216297.2	-	16	2265	c.1927G>A	c.(1927-1929)Gag>Aag	p.E643K		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	643					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AGGCTCACCTCCTTCTCTTTC	0.368																																						ENST00000216297.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(1927-1929)Gag>Aag		suppressor of Ty 16 homolog (S. cerevisiae)							143.0	124.0	131.0					14																	21829239		2203	4300	6503	SO:0001583	missense	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21829239C>T	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.1927G>A	14.37:g.21829239C>T	ENSP00000216297:p.Glu643Lys						p.E643K	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	16	2265	-	all_cancers(95;0.00115)		643					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	ENST00000216297.2	37	c.1927G>A	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	C	33	5.211980	0.95069	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.53	5.53	0.82687	FACT complex subunit Spt16p/Cdc68p (1);	0.000000	0.85682	D	0.000000	T	0.76205	0.3955	M	0.72479	2.2	0.80722	D	1	D	0.59767	0.986	D	0.65323	0.934	T	0.71334	-0.4624	9	0.20046	T	0.44	-19.6084	18.2272	0.89921	0.0:1.0:0.0:0.0	.	643	Q9Y5B9	SP16H_HUMAN	K	643	.	ENSP00000216297:E643K	E	-	1	0	SUPT16H	20899079	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	6.192000	0.72069	2.601000	0.87937	0.591000	0.81541	GAG		0.368	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			60	120	0	0	0	1	0	60	120				
TM9SF2	9375	broad.mit.edu	37	13	100192968	100192968	+	Splice_Site	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr13:100192968G>C	ENST00000376387.4	+	8	1019	c.829G>C	c.(829-831)Gaa>Caa	p.E277Q		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	277					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					TCTCCTCTAGGAAGATGATAA	0.388																																						ENST00000376387.4																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17						c.e8-1		transmembrane 9 superfamily member 2							147.0	141.0	143.0					13																	100192968		2203	4300	6503	SO:0001630	splice_region_variant	9375				transport	endosome membrane|integral to plasma membrane		g.chr13:100192968G>C	U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.829-1G>C	13.37:g.100192968G>C							p.E277_splice	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN			8	1019	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)		277					A8K399|Q2TAY5	Splice_Site	SNP	ENST00000376387.4	37	c.828_splice	CCDS9493.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108033	0.37242	.	.	ENSG00000125304	ENST00000376387	T	0.48522	0.81	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.54095	0.1837	M	0.73753	2.245	0.80722	D	1	B;B	0.27068	0.036;0.167	B;B	0.27608	0.05;0.081	T	0.52548	-0.8561	10	0.51188	T	0.08	-35.8085	19.8897	0.96925	0.0:0.0:1.0:0.0	.	243;277	E9PHW5;Q99805	.;TM9S2_HUMAN	Q	277	ENSP00000365567:E277Q	ENSP00000365567:E277Q	E	+	1	0	TM9SF2	98990969	1.000000	0.71417	1.000000	0.80357	0.091000	0.18340	6.750000	0.74888	2.804000	0.96469	0.462000	0.41574	GAA		0.388	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045602.3		Missense_Mutation	46	69	0	0	0	1	0	46	69				
SORCS1	114815	broad.mit.edu	37	10	108536300	108536300	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr10:108536300C>T	ENST00000263054.6	-	4	884	c.877G>A	c.(877-879)Gac>Aac	p.D293N	SORCS1_ENST00000344440.6_Missense_Mutation_p.D293N	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	293					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ACCTTTTGGTCTTGACTGTAT	0.413																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(877-879)Gac>Aac		sortilin-related VPS10 domain containing receptor 1							173.0	163.0	166.0					10																	108536300		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108536300C>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.877G>A	10.37:g.108536300C>T	ENSP00000263054:p.Asp293Asn					SORCS1_ENST00000344440.6_Missense_Mutation_p.D293N	p.D293N	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	4	884	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	293					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.877G>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.988866	0.93106	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.40476	1.03;1.03	5.61	5.61	0.85477	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.66446	0.2790	M	0.74258	2.255	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;0.999	D;D;D;D;D	0.74348	0.948;0.977;0.977;0.948;0.983	T	0.64390	-0.6419	9	.	.	.	-29.5209	20.0044	0.97430	0.0:1.0:0.0:0.0	.	293;293;293;293;293	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	N	293	ENSP00000263054:D293N;ENSP00000345964:D293N	.	D	-	1	0	SORCS1	108526290	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.713000	0.68415	2.809000	0.96659	0.555000	0.69702	GAC		0.413	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		7	153	0	0	0	1	0	7	153				
SH3KBP1	30011	broad.mit.edu	37	X	19702076	19702076	+	Silent	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:19702076G>A	ENST00000397821.3	-	6	881	c.591C>T	c.(589-591)aaC>aaT	p.N197N	SH3KBP1_ENST00000379697.3_Silent_p.N241N|SH3KBP1_ENST00000379698.4_Silent_p.N160N	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	197					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CCACTGTCCCGTTGGCACCTT	0.507																																						ENST00000397821.3																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						c.(589-591)aaC>aaT		SH3-domain kinase binding protein 1							153.0	126.0	135.0					X																	19702076		2203	4300	6503	SO:0001819	synonymous_variant	30011				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding	g.chrX:19702076G>A	AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.591C>T	X.37:g.19702076G>A						SH3KBP1_ENST00000379697.3_Silent_p.N241N|SH3KBP1_ENST00000379698.4_Silent_p.N160N	p.N197N	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN			6	881	-			197					B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Silent	SNP	ENST00000397821.3	37	c.591C>T	CCDS14193.1																																																																																				0.507	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892		65	167	0	0	0	1	0	65	167				
NPY5R	4889	broad.mit.edu	37	4	164271506	164271506	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr4:164271506C>T	ENST00000515560.1	+	4	1603	c.81C>T	c.(79-81)ttC>ttT	p.F27F	NPY5R_ENST00000506953.1_Silent_p.F27F|NPY5R_ENST00000338566.3_Silent_p.F27F			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	27					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)	p.F27F(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				ATTCTGATTTCCCAGTCTGGG	0.393																																					Melanoma(139;1287 1774 9781 19750 25599)	ENST00000515560.1																			1	Substitution - coding silent(1)	p.F27F(1)	lung(1)	NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(79-81)ttC>ttT		neuropeptide Y receptor Y5							78.0	77.0	77.0					4																	164271506		2203	4300	6503	SO:0001819	synonymous_variant	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164271506C>T	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.81C>T	4.37:g.164271506C>T						NPY5R_ENST00000338566.3_Silent_p.F27F|NPY5R_ENST00000506953.1_Silent_p.F27F	p.F27F			Q15761	NPY5R_HUMAN			4	1603	+	all_hematologic(180;0.166)	Prostate(90;0.109)	27					Q6GTR7|Q92916	Silent	SNP	ENST00000515560.1	37	c.81C>T	CCDS3804.1																																																																																				0.393	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174		41	69	0	0	0	1	0	41	69				
ATP11C	286410	broad.mit.edu	37	X	138840005	138840005	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:138840005G>A	ENST00000327569.3	-	23	2769	c.2671C>T	c.(2671-2673)Cag>Tag	p.Q891*	ATP11C_ENST00000361648.2_Nonsense_Mutation_p.Q891*|ATP11C_ENST00000359686.2_Nonsense_Mutation_p.Q891*|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370557.1_Nonsense_Mutation_p.Q885*|ATP11C_ENST00000370543.1_Nonsense_Mutation_p.Q891*	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	891					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TACAAAAACTGTGGCAAAATG	0.289																																						ENST00000370557.1																			0				breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.(2653-2655)Cag>Tag		ATPase, class VI, type 11C							28.0	26.0	27.0					X																	138840005		2203	4289	6492	SO:0001587	stop_gained	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138840005G>A	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.2671C>T	X.37:g.138840005G>A	ENSP00000332756:p.Gln891*					ATP11C_ENST00000327569.3_Nonsense_Mutation_p.Q891*|ATP11C_ENST00000359686.2_Nonsense_Mutation_p.Q891*|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000361648.2_Nonsense_Mutation_p.Q891*|ATP11C_ENST00000370543.1_Nonsense_Mutation_p.Q891*	p.Q885*			Q8NB49	AT11C_HUMAN			23	3680	-	Acute lymphoblastic leukemia(192;0.000127)		891					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Nonsense_Mutation	SNP	ENST00000327569.3	37	c.2653C>T	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	G	41	8.921446	0.99004	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	17.2399	0.87010	0.0:0.0:1.0:0.0	.	.	.	.	X	885;891;891;891;891	.	ENSP00000332756:Q891X	Q	-	1	0	ATP11C	138667671	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.349000	0.97066	2.283000	0.76528	0.544000	0.68410	CAG		0.289	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		13	33	0	0	0	1	0	13	33				
FAM184A	79632	broad.mit.edu	37	6	119338003	119338003	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr6:119338003G>A	ENST00000338891.7	-	5	1882	c.1439C>T	c.(1438-1440)tCt>tTt	p.S480F	FAM184A_ENST00000368475.4_Missense_Mutation_p.S360F|FAM184A_ENST00000522284.1_Missense_Mutation_p.S360F|FAM184A_ENST00000521531.1_Missense_Mutation_p.S480F|FAM184A_ENST00000352896.5_Missense_Mutation_p.S360F|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	480						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CAAAGTCTTAGAATGGGCCTC	0.378																																						ENST00000338891.7																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						c.(1438-1440)tCt>tTt		family with sequence similarity 184, member A							134.0	129.0	130.0					6																	119338003		1824	4084	5908	SO:0001583	missense	79632							g.chr6:119338003G>A	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.1439C>T	6.37:g.119338003G>A	ENSP00000342604:p.Ser480Phe					FAM184A_ENST00000352896.5_Missense_Mutation_p.S360F|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Missense_Mutation_p.S360F|FAM184A_ENST00000522284.1_Missense_Mutation_p.S360F|FAM184A_ENST00000521531.1_Missense_Mutation_p.S480F	p.S480F	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN			5	1882	-			480					B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	c.1439C>T	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677976	0.68042	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284	T;T;T;T;T	0.00359	7.87;7.87;7.87;7.87;7.87	5.18	4.3	0.51218	.	0.425279	0.25704	N	0.028859	T	0.00210	0.0006	L	0.50333	1.59	0.38995	D	0.959239	P;P;P	0.48640	0.892;0.892;0.913	P;B;P	0.50049	0.549;0.444;0.629	D	0.84038	0.0363	10	0.66056	D	0.02	-0.0772	15.3258	0.74160	0.0:0.1455:0.8545:0.0	.	480;360;480	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	F	480;360;360;480;360	ENSP00000342604:S480F;ENSP00000326608:S360F;ENSP00000357460:S360F;ENSP00000430442:S480F;ENSP00000429826:S360F	ENSP00000342604:S480F	S	-	2	0	FAM184A	119379702	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.657000	0.67996	1.153000	0.42468	0.491000	0.48974	TCT		0.378	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		47	113	0	0	0	1	0	47	113				
CTCFL	140690	broad.mit.edu	37	20	56073693	56073693	+	Silent	SNP	G	G	A	rs141206026		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr20:56073693G>A	ENST00000608263.1	-	10	2566	c.1905C>T	c.(1903-1905)gtC>gtT	p.V635V	CTCFL_ENST00000423479.3_Silent_p.V635V|CTCFL_ENST00000371196.2_Silent_p.V635V|CTCFL_ENST00000429804.3_Silent_p.V585V|CTCFL_ENST00000609232.1_Silent_p.V635V|CTCFL_ENST00000243914.3_Silent_p.V635V	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	635					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CTCTGCAGGCGACAGGAAACA	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		17833	0.001		0.0	False		,,,				2504	0.0					ENST00000429804.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1753-1755)gtC>gtT		CCCTC-binding factor (zinc finger protein)-like							148.0	129.0	135.0					20																	56073693		2203	4300	6503	SO:0001819	synonymous_variant	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56073693G>A		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.1905C>T	20.37:g.56073693G>A						CTCFL_ENST00000243914.3_Silent_p.V635V|CTCFL_ENST00000423479.2_Silent_p.V635V|CTCFL_ENST00000371196.2_Silent_p.V635V	p.V585V	NM_001269046.1	NP_001255975.1	Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		10	2315	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		635					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Silent	SNP	ENST00000608263.1	37	c.1755C>T	CCDS13459.1																																																																																				0.502	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		37	101	0	0	0	1	0	37	101				
NPIPA1	9284	broad.mit.edu	37	16	15045778	15045778	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr16:15045778C>T	ENST00000328085.6	+	8	949	c.949C>T	c.(949-951)Cca>Tca	p.P317S	NPIPA1_ENST00000472413.1_3'UTR	NM_006985.2	NP_008916.2	Q9UND3	NPIA1_HUMAN	nuclear pore complex interacting protein family, member A1	317	Pro-rich.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	nuclear pore (GO:0005643)											CACTCCCCTTCCACCCTCAGC	0.532																																						ENST00000328085.6																			0											c.(949-951)Cca>Tca		nuclear pore complex interacting protein family, member A1							26.0	31.0	29.0					16																	15045778		1318	2309	3627	SO:0001583	missense	9284							g.chr16:15045778C>T	AC002045	CCDS10557.1	16p13.11	2013-06-11	2013-06-11	2013-06-11	ENSG00000183426	ENSG00000183426			7909	protein-coding gene	gene with protein product		606406	"""nuclear pore complex interacting protein"""	NPIP		11586358, 18055785	Standard	NM_006985		Approved	morpheus	uc002dcy.4	Q9UND3	OTTHUMG00000090663	ENST00000328085.6:c.949C>T	16.37:g.15045778C>T	ENSP00000331843:p.Pro317Ser					NPIPA1_ENST00000472413.1_3'UTR	p.P317S	NM_006985.2	NP_008916.2					8	949	+								O15102	Missense_Mutation	SNP	ENST00000328085.6	37	c.949C>T	CCDS10557.1	.	.	.	.	.	.	.	.	.	.	.	8.521	0.868777	0.17322	.	.	ENSG00000183426	ENST00000432470;ENST00000328085	T	0.70045	-0.45	.	.	.	.	.	.	.	.	T	0.61788	0.2375	L	0.53249	1.67	0.09310	N	1	P	0.49961	0.93	P	0.46629	0.522	T	0.53308	-0.8457	7	0.56958	D	0.05	.	.	.	.	.	317	Q9UND3	NPIP_HUMAN	S	317	ENSP00000331843:P317S	ENSP00000331843:P317S	P	+	1	0	NPIP	14953279	0.086000	0.21541	0.045000	0.18777	0.045000	0.14185	0.076000	0.14712	0.073000	0.16731	0.074000	0.15403	CCA		0.532	NPIPA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207326.2	NM_006985		4	63	0	0	0	1	0	4	63				
CNTN3	5067	broad.mit.edu	37	3	74414719	74414719	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:74414719C>T	ENST00000263665.6	-	8	1108	c.1081G>A	c.(1081-1083)Gag>Aag	p.E361K		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	361	Ig-like C2-type 4.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TACCTTACCTCTAGCACCAGG	0.498																																						ENST00000263665.6																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(1081-1083)Gag>Aag		contactin 3 (plasmacytoma associated)							209.0	204.0	206.0					3																	74414719		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74414719C>T	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1081G>A	3.37:g.74414719C>T	ENSP00000263665:p.Glu361Lys						p.E361K	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	8	1108	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	361			Ig-like C2-type 4.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.1081G>A	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.062454	0.55432	.	.	ENSG00000113805	ENST00000263665	D	0.81659	-1.52	5.37	5.37	0.77165	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74642	0.3743	L	0.37507	1.11	0.80722	D	1	B	0.17038	0.02	B	0.30572	0.117	T	0.70088	-0.4968	10	0.39692	T	0.17	.	12.4631	0.55743	0.0:0.9233:0.0:0.0766	.	361	Q9P232	CNTN3_HUMAN	K	361	ENSP00000263665:E361K	ENSP00000263665:E361K	E	-	1	0	CNTN3	74497409	1.000000	0.71417	0.984000	0.44739	0.542000	0.35054	5.730000	0.68546	2.501000	0.84356	0.591000	0.81541	GAG		0.498	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		119	328	0	0	0	1	0	119	328				
PKHD1L1	93035	broad.mit.edu	37	8	110401306	110401306	+	Splice_Site	SNP	A	A	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr8:110401306A>T	ENST00000378402.5	+	8	727		c.e8-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTTTTAATTAGATATGGTCT	0.294										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.e8-1		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							129.0	124.0	126.0					8																	110401306		1800	4064	5864	SO:0001630	splice_region_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110401306A>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.624-1A>T	8.37:g.110401306A>T		HNSCC(38;0.096)						NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		8	727	+								Q567P2|Q9UF27	Splice_Site	SNP	ENST00000378402.5	37		CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	13.03	2.114798	0.37339	.	.	ENSG00000205038	ENST00000378402	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3686	0.60701	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PKHD1L1	110470482	1.000000	0.71417	0.999000	0.59377	0.239000	0.25481	5.458000	0.66679	2.041000	0.60428	0.459000	0.35465	.		0.294	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	Intron	43	94	0	0	0	1	0	43	94				
RHOXF1	158800	broad.mit.edu	37	X	119249462	119249462	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:119249462C>T	ENST00000217999.2	-	1	385	c.311G>A	c.(310-312)cGa>cAa	p.R104Q	RP4-755D9.1_ENST00000553843.1_RNA|GS1-421I3.4_ENST00000422226.1_lincRNA	NM_139282.1	NP_644811.1	Q8NHV9	RHXF1_HUMAN	Rhox homeobox family, member 1	104					gamete generation (GO:0007276)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|sexual reproduction (GO:0019953)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						GCGCCGAGTTCGTGGCTGCAT	0.652																																						ENST00000217999.2																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						c.(310-312)cGa>cAa		Rhox homeobox family, member 1							67.0	60.0	62.0					X																	119249462		2203	4296	6499	SO:0001583	missense	158800				gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:119249462C>T		CCDS14593.1	Xq24	2011-06-20			ENSG00000101883	ENSG00000101883		"""Homeoboxes / PRD class"""	29993	protein-coding gene	gene with protein product		300446				11980563, 12490318	Standard	NM_139282		Approved	OTEX, PEPP1	uc004esk.2	Q8NHV9	OTTHUMG00000022290	ENST00000217999.2:c.311G>A	X.37:g.119249462C>T	ENSP00000217999:p.Arg104Gln					RP4-755D9.1_ENST00000553843.1_RNA	p.R104Q	NM_139282.1	NP_644811.1	Q8NHV9	RHXF1_HUMAN			1	385	-			104					O95030|Q3SYE0	Missense_Mutation	SNP	ENST00000217999.2	37	c.311G>A	CCDS14593.1	.	.	.	.	.	.	.	.	.	.	c	13.17	2.156874	0.38119	.	.	ENSG00000101883	ENST00000217999	D	0.97209	-4.29	2.73	-4.24	0.03777	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	.	.	.	.	D	0.93976	0.8071	M	0.70787	2.145	0.09310	N	1	B	0.32350	0.366	B	0.28385	0.089	D	0.85884	0.1424	9	0.62326	D	0.03	-3.4025	4.8121	0.13349	0.0:0.2081:0.313:0.479	.	104	Q8NHV9	RHXF1_HUMAN	Q	104	ENSP00000217999:R104Q	ENSP00000217999:R104Q	R	-	2	0	RHOXF1	119133490	0.001000	0.12720	0.000000	0.03702	0.011000	0.07611	0.376000	0.20535	-1.538000	0.01734	-0.325000	0.08501	CGA		0.652	RHOXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058083.2	NM_139282		31	101	0	0	0	1	0	31	101				
CP	1356	broad.mit.edu	37	3	148897378	148897378	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:148897378G>A	ENST00000264613.6	-	15	2888	c.2626C>T	c.(2626-2628)Cca>Tca	p.P876S		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	876	F5/8 type A 3.|Plastocyanin-like 5.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TAAGCCCATGGAATACAAGCA	0.373																																						ENST00000264613.6																			0				breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2626-2628)Cca>Tca		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						113.0	100.0	105.0					3																	148897378		2203	4300	6503	SO:0001583	missense	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148897378G>A	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.2626C>T	3.37:g.148897378G>A	ENSP00000264613:p.Pro876Ser						p.P876S	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		15	2888	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	876			F5/8 type A 3.|Plastocyanin-like 5.		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	c.2626C>T	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.957651	0.34565	.	.	ENSG00000047457	ENST00000479771;ENST00000264613;ENST00000494544	D;D;D	0.99311	-5.73;-4.71;-4.71	5.71	5.71	0.89125	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.244558	0.41823	D	0.000816	D	0.98298	0.9436	N	0.16862	0.45	0.36784	D	0.884498	D;D;D;P	0.89917	0.997;0.999;1.0;0.915	D;D;D;P	0.79108	0.931;0.971;0.992;0.478	D	0.97629	1.0141	10	0.25751	T	0.34	-20.1565	11.3913	0.49815	0.0:0.1431:0.7256:0.1313	.	876;876;876;589	A8K5A4;P00450;Q1L857;B3KTA8	.;CERU_HUMAN;.;.	S	11;876;659	ENSP00000420367:P11S;ENSP00000264613:P876S;ENSP00000420545:P659S	ENSP00000264613:P876S	P	-	1	0	CP	150380068	0.904000	0.30761	1.000000	0.80357	0.958000	0.62258	1.011000	0.29911	2.680000	0.91292	0.557000	0.71058	CCA		0.373	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		57	34	0	0	0	1	0	57	34				
GALNT2	2590	broad.mit.edu	37	1	230386252	230386252	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:230386252G>A	ENST00000366672.4	+	10	1027	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	GALNT2_ENST00000543760.1_Missense_Mutation_p.E281K|GALNT2_ENST00000541865.1_Intron	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	319	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GTTCTATTTTGAAGAACTGGG	0.493																																						ENST00000366672.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32						c.(955-957)Gaa>Aaa		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)							174.0	158.0	163.0					1																	230386252		2203	4300	6503	SO:0001583	missense	2590				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230386252G>A	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.955G>A	1.37:g.230386252G>A	ENSP00000355632:p.Glu319Lys					GALNT2_ENST00000543760.1_Missense_Mutation_p.E281K|GALNT2_ENST00000541865.1_Intron	p.E319K	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN			10	1027	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	319			Catalytic subdomain B.		A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Missense_Mutation	SNP	ENST00000366672.4	37	c.955G>A	CCDS1582.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.111692	0.56398	.	.	ENSG00000143641	ENST00000543760;ENST00000366672;ENST00000543291	T;T	0.60672	0.17;0.17	4.43	3.51	0.40186	.	0.000000	0.85682	D	0.000000	T	0.50854	0.1640	M	0.64997	1.995	0.80722	D	1	B;B	0.25904	0.137;0.066	B;B	0.24269	0.052;0.031	T	0.48007	-0.9072	10	0.38643	T	0.18	.	8.8544	0.35219	0.1767:0.0:0.8233:0.0	.	319;281	Q10471;G3V1S6	GALT2_HUMAN;.	K	281;319;200	ENSP00000445017:E281K;ENSP00000355632:E319K	ENSP00000355632:E319K	E	+	1	0	GALNT2	228452875	1.000000	0.71417	0.213000	0.23690	0.969000	0.65631	6.182000	0.71995	0.978000	0.38470	0.462000	0.41574	GAA		0.493	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		19	53	0	0	0	1	0	19	53				
TCERG1	10915	broad.mit.edu	37	5	145851051	145851051	+	Splice_Site	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:145851051G>A	ENST00000296702.5	+	9	1551	c.1513G>A	c.(1513-1515)Gag>Aag	p.E505K	TCERG1_ENST00000394421.2_Splice_Site_p.E484K	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	505	Glu-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTCTTGTAGGAGCCCAAAGA	0.403																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.e9-1		transcription elongation regulator 1							91.0	94.0	93.0					5																	145851051		2203	4300	6503	SO:0001630	splice_region_variant	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145851051G>A	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1513-1G>A	5.37:g.145851051G>A						TCERG1_ENST00000394421.2_Splice_Site_p.E484_splice	p.E505_splice	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1551	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	505			Glu-rich.		Q2NKN2|Q59EA1	Splice_Site	SNP	ENST00000296702.5	37	c.1512_splice	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128222	0.56721	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.77358	-1.09;-1.09	5.78	5.78	0.91487	.	0.279748	0.39146	N	0.001442	T	0.78923	0.4360	L	0.38175	1.15	0.80722	D	1	D;P;P	0.55172	0.97;0.932;0.888	P;P;B	0.51833	0.681;0.558;0.355	T	0.76058	-0.3098	9	.	.	.	-19.2505	20.0143	0.97474	0.0:0.0:1.0:0.0	.	484;484;505	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	K	505;484	ENSP00000296702:E505K;ENSP00000377943:E484K	.	E	+	1	0	TCERG1	145831244	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	6.360000	0.73064	2.740000	0.93945	0.313000	0.20887	GAG		0.403	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006	Missense_Mutation	42	69	0	0	0	1	0	42	69				
MAGI2	9863	broad.mit.edu	37	7	78131061	78131061	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:78131061C>T	ENST00000354212.4	-	5	1051	c.798G>A	c.(796-798)gaG>gaA	p.E266E	MAGI2_ENST00000522391.1_Silent_p.E266E|MAGI2_ENST00000536571.1_Silent_p.E98E|MAGI2_ENST00000419488.1_Silent_p.E266E|MAGI2_ENST00000535697.1_Silent_p.E103E	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	266	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGGAGGGCATCTCCCCTGAGG	0.498																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(796-798)gaG>gaA		membrane associated guanylate kinase, WW and PDZ domain containing 2							193.0	156.0	169.0					7																	78131061		2203	4300	6503	SO:0001819	synonymous_variant	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:78131061C>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.798G>A	7.37:g.78131061C>T						MAGI2_ENST00000536571.1_Silent_p.E98E|MAGI2_ENST00000419488.1_Silent_p.E266E|MAGI2_ENST00000522391.1_Silent_p.E266E|MAGI2_ENST00000535697.1_Silent_p.E103E	p.E266E	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			5	1051	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	266			Guanylate kinase-like.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Silent	SNP	ENST00000354212.4	37	c.798G>A	CCDS5594.1																																																																																				0.498	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		38	73	0	0	0	1	0	38	73				
GYG2	8908	broad.mit.edu	37	X	2773149	2773149	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:2773149C>T	ENST00000381163.3	+	6	815	c.533C>T	c.(532-534)aCg>aTg	p.T178M	GYG2_ENST00000338623.5_Missense_Mutation_p.T178M|GYG2_ENST00000542787.1_Missense_Mutation_p.T178M|GYG2_ENST00000398806.3_Missense_Mutation_p.T147M|GYG2_ENST00000381161.1_3'UTR|GYG2-AS1_ENST00000445107.1_RNA	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	178					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	glycogenin glucosyltransferase activity (GO:0008466)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCTCTCCACACGCATAAACTC	0.572																																						ENST00000381163.3																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(532-534)aCg>aTg		glycogenin 2							113.0	89.0	97.0					X																	2773149		2203	4299	6502	SO:0001583	missense	8908				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity	g.chrX:2773149C>T	U94361	CCDS14121.1, CCDS48074.1	Xp22.3	2013-02-22			ENSG00000056998	ENSG00000056998	2.4.1.186	"""Glycosyltransferase family 8 domain containing"""	4700	protein-coding gene	gene with protein product	"""glycogenin glucosyltransferase"""	300198				9857012	Standard	NM_001079855		Approved	GN-2	uc004cqs.1	O15488	OTTHUMG00000021079	ENST00000381163.3:c.533C>T	X.37:g.2773149C>T	ENSP00000370555:p.Thr178Met					GYG2_ENST00000381161.1_3'UTR|GYG2_ENST00000338623.5_Missense_Mutation_p.T178M|GYG2_ENST00000542787.1_Missense_Mutation_p.T178M|GYG2_ENST00000398806.3_Missense_Mutation_p.T147M	p.T178M	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN			6	815	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	178					B7WNN6|O15485|O15486|O15487|O15489|O15490	Missense_Mutation	SNP	ENST00000381163.3	37	c.533C>T	CCDS14121.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671359	0.47781	.	.	ENSG00000056998	ENST00000398806;ENST00000381163;ENST00000338623;ENST00000542787	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	3.47	3.47	0.39725	.	0.000000	0.64402	D	0.000005	T	0.73118	0.3546	M	0.90542	3.125	0.51767	D	0.99993	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;0.999;1.0	T	0.80984	-0.1138	10	0.87932	D	0	.	14.664	0.68893	0.0:1.0:0.0:0.0	.	178;138;147;147;178	O15488-4;O15488-3;A8K8Y1;O15488-2;O15488	.;.;.;.;GLYG2_HUMAN	M	147;178;178;178	ENSP00000381786:T147M;ENSP00000370555:T178M;ENSP00000341273:T178M;ENSP00000446092:T178M	ENSP00000341273:T178M	T	+	2	0	GYG2	2783149	1.000000	0.71417	0.009000	0.14445	0.003000	0.03518	6.126000	0.71635	1.519000	0.48950	0.600000	0.82982	ACG		0.572	GYG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055645.1	NM_003918		54	160	0	0	0	1	0	54	160				
MYNN	55892	broad.mit.edu	37	3	169504251	169504251	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:169504251G>C	ENST00000349841.5	+	8	2281	c.1618G>C	c.(1618-1620)Gaa>Caa	p.E540Q	MYNN_ENST00000356716.4_Missense_Mutation_p.E540Q|MYNN_ENST00000544106.1_Missense_Mutation_p.E511Q	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	540					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TACTTTGAGTGAACAGGATTC	0.373																																						ENST00000349841.5																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1618-1620)Gaa>Caa		myoneurin							126.0	129.0	128.0					3																	169504251		2203	4300	6503	SO:0001583	missense	55892					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:169504251G>C	AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.1618G>C	3.37:g.169504251G>C	ENSP00000326240:p.Glu540Gln					MYNN_ENST00000356716.4_Missense_Mutation_p.E540Q|MYNN_ENST00000544106.1_Missense_Mutation_p.E511Q	p.E540Q	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)		8	2281	+	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		540					B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Missense_Mutation	SNP	ENST00000349841.5	37	c.1618G>C	CCDS3207.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.571954	0.28092	.	.	ENSG00000085274	ENST00000356716;ENST00000349841;ENST00000544106	T;T;T	0.10477	3.04;3.04;2.87	5.25	5.25	0.73442	.	0.216527	0.34853	N	0.003621	T	0.13500	0.0327	N	0.19112	0.55	0.80722	D	1	P;D	0.57899	0.779;0.981	B;D	0.65140	0.369;0.932	T	0.05468	-1.0883	10	0.02654	T	1	.	12.2339	0.54503	0.0781:0.0:0.9219:0.0	.	511;540	Q9NPC7-2;Q9NPC7	.;MYNN_HUMAN	Q	540;540;511	ENSP00000349150:E540Q;ENSP00000326240:E540Q;ENSP00000440637:E511Q	ENSP00000326240:E540Q	E	+	1	0	MYNN	170986945	1.000000	0.71417	0.995000	0.50966	0.340000	0.28889	5.489000	0.66875	2.472000	0.83506	0.491000	0.48974	GAA		0.373	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467801.1	NM_018657		59	148	0	0	0	1	0	59	148				
PLOD3	8985	broad.mit.edu	37	7	100859192	100859192	+	Silent	SNP	C	C	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:100859192C>G	ENST00000223127.3	-	5	1010	c.612G>C	c.(610-612)ctG>ctC	p.L204L	ZNHIT1_ENST00000305105.2_5'Flank	NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	204					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	TCCCTACCCTCAGTCCTGGGT	0.582																																						ENST00000223127.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31						c.(610-612)ctG>ctC		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	Succinic acid(DB00139)|Vitamin C(DB00126)						103.0	93.0	97.0					7																	100859192		2203	4300	6503	SO:0001819	synonymous_variant	8985				protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr7:100859192C>G	AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.612G>C	7.37:g.100859192C>G							p.L204L	NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN			5	1010	-	Lung NSC(181;0.168)|all_lung(186;0.215)		204					B2R6W6|Q540C3	Silent	SNP	ENST00000223127.3	37	c.612G>C	CCDS5715.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070317	0.55539	.	.	ENSG00000106397	ENST00000421736	.	.	.	5.09	2.0	0.26442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.837	12.6214	0.56605	0.0:0.3803:0.6197:0.0	.	.	.	.	S	37	.	.	X	-	2	2	PLOD3	100645912	0.106000	0.21978	0.990000	0.47175	0.914000	0.54420	-0.044000	0.12023	0.472000	0.27344	0.561000	0.74099	TGA		0.582	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1			13	64	0	0	0	1	0	13	64				
GBP5	115362	broad.mit.edu	37	1	89730647	89730647	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:89730647G>C	ENST00000370459.3	-	7	998	c.871C>G	c.(871-873)Cta>Gta	p.L291V	GBP5_ENST00000471171.1_5'Flank|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000343435.5_Missense_Mutation_p.L291V			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	291	GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		AGGTTCTTTAGACCTTCATGG	0.418																																						ENST00000343435.5																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24						c.(871-873)Cta>Gta		guanylate binding protein 5							66.0	62.0	64.0					1																	89730647		2203	4300	6503	SO:0001583	missense	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89730647G>C	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.871C>G	1.37:g.89730647G>C	ENSP00000359488:p.Leu291Val					RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000481145.1_5'UTR|GBP5_ENST00000370459.3_Missense_Mutation_p.L291V	p.L291V	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	8	1407	-			291					B2RCE1|Q86TM5	Missense_Mutation	SNP	ENST00000370459.3	37	c.871C>G	CCDS722.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.258395	0.39896	.	.	ENSG00000154451	ENST00000343435;ENST00000370459;ENST00000443807	T;T;T	0.10382	2.88;2.88;2.88	4.96	3.1	0.35709	Guanylate-binding protein, C-terminal (3);	0.079898	0.51477	D	0.000086	T	0.25158	0.0611	M	0.91038	3.17	0.31115	N	0.709505	D	0.89917	1.0	D	0.83275	0.996	T	0.15435	-1.0437	10	0.87932	D	0	-10.8863	9.5582	0.39353	0.1713:0.0:0.8287:0.0	.	291	Q96PP8	GBP5_HUMAN	V	291	ENSP00000340396:L291V;ENSP00000359488:L291V;ENSP00000403010:L291V	ENSP00000340396:L291V	L	-	1	2	GBP5	89503235	1.000000	0.71417	0.956000	0.39512	0.050000	0.14768	2.248000	0.43160	0.827000	0.34685	0.556000	0.70494	CTA		0.418	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942		35	72	0	0	0	1	0	35	72				
LSAMP	4045	broad.mit.edu	37	3	115805246	115805246	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:115805246C>T	ENST00000490035.2	-	2	812	c.313G>A	c.(313-315)Gat>Aat	p.D105N	LSAMP_ENST00000539563.1_Missense_Mutation_p.D102N	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	105	Ig-like C2-type 1.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		GAACCCTCATCATAGACATCC	0.498																																						ENST00000490035.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(313-315)Gat>Aat		limbic system-associated membrane protein							109.0	99.0	103.0					3																	115805246		2203	4300	6503	SO:0001583	missense	4045				cell adhesion|nervous system development	anchored to membrane|plasma membrane		g.chr3:115805246C>T	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"""Immunoglobulin superfamily / I-set domain containing"""	6705	protein-coding gene	gene with protein product	"""IgLON family member 3"""	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.313G>A	3.37:g.115805246C>T	ENSP00000419000:p.Asp105Asn					LSAMP_ENST00000539563.1_Missense_Mutation_p.D102N	p.D105N	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)	2	812	-		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)	105			Ig-like C2-type 1.		Q8IV49	Missense_Mutation	SNP	ENST00000490035.2	37	c.313G>A	CCDS2982.1	.	.	.	.	.	.	.	.	.	.	C	35	5.531597	0.96446	.	.	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563;ENST00000474851	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.82	5.82	0.92795	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84669	0.5523	H	0.98559	4.265	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.91635	0.996;0.999	D	0.90106	0.4188	10	0.87932	D	0	-15.8239	20.0925	0.97824	0.0:1.0:0.0:0.0	.	105;105	B2RCU8;Q13449	.;LSAMP_HUMAN	N	89;105;102;139	ENSP00000328455:D89N;ENSP00000419000:D105N;ENSP00000443429:D102N;ENSP00000418506:D139N	ENSP00000328455:D89N	D	-	1	0	LSAMP	117287936	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.788000	0.85771	2.751000	0.94390	0.555000	0.69702	GAT		0.498	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338		35	67	0	0	0	1	0	35	67				
TIMM44	10469	broad.mit.edu	37	19	7998423	7998423	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:7998423G>A	ENST00000270538.3	-	7	984	c.716C>T	c.(715-717)tCc>tTc	p.S239F	TIMM44_ENST00000598968.1_5'Flank	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	239					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						GTACCACTTGGAGTCCTTGTG	0.647																																						ENST00000270538.3																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						c.(715-717)tCc>tTc		translocase of inner mitochondrial membrane 44 homolog (yeast)							257.0	234.0	242.0					19																	7998423		2203	4300	6503	SO:0001583	missense	10469				protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr19:7998423G>A	AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.716C>T	19.37:g.7998423G>A	ENSP00000270538:p.Ser239Phe						p.S239F	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN			7	984	-			239					A8K0R9|D6W664|Q8N193	Missense_Mutation	SNP	ENST00000270538.3	37	c.716C>T	CCDS12192.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.521889	0.85600	.	.	ENSG00000104980	ENST00000270538	T	0.80653	-1.4	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.83229	0.5209	M	0.75447	2.3	0.80722	D	1	D	0.54964	0.969	P	0.46975	0.533	D	0.86055	0.1528	10	0.62326	D	0.03	-23.3313	15.7709	0.78167	0.0:0.0:1.0:0.0	.	239	O43615	TIM44_HUMAN	F	239	ENSP00000270538:S239F	ENSP00000270538:S239F	S	-	2	0	TIMM44	7904423	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.223000	0.78033	2.335000	0.79485	0.561000	0.74099	TCC		0.647	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461596.3			134	373	0	0	0	1	0	134	373				
PKHD1	5314	broad.mit.edu	37	6	51612959	51612959	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr6:51612959T>G	ENST00000371117.3	-	58	9730	c.9455A>C	c.(9454-9456)aAc>aCc	p.N3152T	PKHD1_ENST00000340994.4_Missense_Mutation_p.N3152T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3152					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATAGTCAAAGTTCTTGAAAGC	0.418																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(9454-9456)aAc>aCc		polycystic kidney and hepatic disease 1 (autosomal recessive)							173.0	185.0	181.0					6																	51612959		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51612959T>G	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9455A>C	6.37:g.51612959T>G	ENSP00000360158:p.Asn3152Thr					PKHD1_ENST00000340994.4_Missense_Mutation_p.N3152T	p.N3152T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			58	9730	-	Lung NSC(77;0.0605)		3152					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.9455A>C	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	T	18.67	3.673806	0.67928	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.84442	-1.85;-1.85	5.86	5.86	0.93980	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.000000	0.85682	D	0.000000	D	0.88735	0.6517	M	0.79475	2.455	0.38724	D	0.953512	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.99;0.999	D	0.87132	0.2197	10	0.11794	T	0.64	.	15.448	0.75248	0.0:0.0:0.0:1.0	.	3152;3152;3152	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	T	3152	ENSP00000360158:N3152T;ENSP00000341097:N3152T	ENSP00000341097:N3152T	N	-	2	0	PKHD1	51720918	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.223000	0.65283	2.240000	0.73641	0.533000	0.62120	AAC		0.418	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		9	412	0	0	0	1	0	9	412				
STIM2	57620	broad.mit.edu	37	4	27024254	27024254	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr4:27024254C>T	ENST00000467087.1	+	12	2405	c.1877C>T	c.(1876-1878)tCa>tTa	p.S626L	STIM2_ENST00000465503.1_Missense_Mutation_p.S634L|STIM2_ENST00000382009.3_Missense_Mutation_p.S721L|STIM2_ENST00000467011.1_3'UTR|STIM2_ENST00000412829.2_3'UTR|STIM2_ENST00000237364.5_Missense_Mutation_p.S713L			Q9P246	STIM2_HUMAN	stromal interaction molecule 2	626					activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				CGAAAGATATCAAGAGATGAG	0.468																																						ENST00000382009.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(2161-2163)tCa>tTa		stromal interaction molecule 2							104.0	109.0	108.0					4																	27024254		2203	4300	6503	SO:0001583	missense	57620				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding	g.chr4:27024254C>T	AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"""Sterile alpha motif (SAM) domain containing"""	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467087.1:c.1877C>T	4.37:g.27024254C>T	ENSP00000419073:p.Ser626Leu					STIM2_ENST00000465503.1_Missense_Mutation_p.S634L|STIM2_ENST00000412829.2_3'UTR|STIM2_ENST00000467011.1_3'UTR|STIM2_ENST00000467087.1_Missense_Mutation_p.S626L|STIM2_ENST00000237364.5_Missense_Mutation_p.S713L	p.S721L	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN			13	2429	+		Breast(46;0.0503)	626					A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Missense_Mutation	SNP	ENST00000467087.1	37	c.2162C>T	CCDS3440.2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153628	0.78114	.	.	ENSG00000109689	ENST00000467087;ENST00000382009;ENST00000237364;ENST00000465503	D;D;D;D	0.87966	-2.29;-2.31;-2.32;-2.31	5.87	5.87	0.94306	.	0.079600	0.64402	D	0.000017	D	0.90263	0.6955	L	0.27053	0.805	0.80722	D	1	D;D	0.67145	0.993;0.996	D;D	0.77557	0.977;0.99	D	0.90827	0.4713	10	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	721;713	E9PGD0;F5GXJ4	.;.	L	626;721;713;634	ENSP00000419073:S626L;ENSP00000371439:S721L;ENSP00000237364:S713L;ENSP00000417569:S634L	ENSP00000237364:S713L	S	+	2	0	STIM2	26633352	1.000000	0.71417	0.958000	0.39756	0.859000	0.49053	5.723000	0.68492	2.941000	0.99782	0.655000	0.94253	TCA		0.468	STIM2-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215063.2	NM_020860		49	76	0	0	0	1	0	49	76				
HNF4G	3174	broad.mit.edu	37	8	76465281	76465281	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr8:76465281C>T	ENST00000354370.1	+	6	623	c.353C>T	c.(352-354)tCa>tTa	p.S118L	HNF4G_ENST00000396423.2_Missense_Mutation_p.S155L			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	118					endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TACTAGATCTCAGTCTCAAGC	0.348																																						ENST00000396423.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(463-465)tCa>tTa		hepatocyte nuclear factor 4, gamma							71.0	66.0	68.0					8																	76465281		2203	4300	6503	SO:0001583	missense	3174				endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr8:76465281C>T		CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"""Nuclear hormone receptors"""	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.353C>T	8.37:g.76465281C>T	ENSP00000346339:p.Ser118Leu					HNF4G_ENST00000354370.1_Missense_Mutation_p.S118L	p.S155L	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		5	588	+	Breast(64;0.0448)		118					Q7Z2V9|Q9UH81|Q9UIS6	Missense_Mutation	SNP	ENST00000354370.1	37	c.464C>T		.	.	.	.	.	.	.	.	.	.	C	15.19	2.760520	0.49468	.	.	ENSG00000164749	ENST00000354370;ENST00000396423	D;D	0.94862	-3.54;-3.54	5.1	4.22	0.49857	Nuclear hormone receptor, ligand-binding (2);	0.273852	0.35096	N	0.003454	D	0.87569	0.6210	N	0.08118	0	0.44234	D	0.99707	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.003	T	0.83188	-0.0085	10	0.45353	T	0.12	.	15.344	0.74320	0.1408:0.8592:0.0:0.0	.	155;118	F1D8Q4;Q14541	.;HNF4G_HUMAN	L	118;155	ENSP00000346339:S118L;ENSP00000379701:S155L	ENSP00000346339:S118L	S	+	2	0	HNF4G	76627836	0.991000	0.36638	0.989000	0.46669	0.781000	0.44180	3.192000	0.50989	1.490000	0.48466	-0.181000	0.13052	TCA		0.348	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2	NM_004133		25	63	0	0	0	1	0	25	63				
LIPI	149998	broad.mit.edu	37	21	15525004	15525004	+	Splice_Site	SNP	G	G	A	rs376678551		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr21:15525004G>A	ENST00000536861.1	-	8	1007	c.1008C>T	c.(1006-1008)acC>acT	p.T336T	LIPI_ENST00000344577.2_Splice_Site_p.T357T			Q6XZB0	LIPI_HUMAN	lipase, member I	336					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		CAAAATAATAGGCTACAAAAT	0.249																																						ENST00000344577.2																			0				endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54						c.e8-1		lipase, member I		G		1,4363		0,1,2181	22.0	23.0	23.0		1071	-0.1	1.0	21		23	0,8498		0,0,4249	no	coding-synonymous-near-splice	LIPI	NM_198996.2		0,1,6430	AA,AG,GG		0.0,0.0229,0.0078		357/482	15525004	1,12861	2182	4249	6431	SO:0001630	splice_region_variant	149998				lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	g.chr21:15525004G>A	BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.1007-1C>T	21.37:g.15525004G>A						LIPI_ENST00000536861.1_Splice_Site_p.T336_splice	p.T357_splice	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)	8	1096	-			336					G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Splice_Site	SNP	ENST00000536861.1	37	c.1069_splice																																																																																					0.249	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996	Silent	9	22	0	0	0	1	0	9	22				
RELN	5649	broad.mit.edu	37	7	103130201	103130201	+	Missense_Mutation	SNP	C	C	T	rs376520049		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:103130201C>T	ENST00000428762.1	-	60	9910	c.9751G>A	c.(9751-9753)Gag>Aag	p.E3251K	RELN_ENST00000343529.5_Missense_Mutation_p.E3251K|RELN_ENST00000424685.2_Missense_Mutation_p.E3251K|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3251	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGGAAGCTCTCGTCGCAGATG	0.522																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(9751-9753)Gag>Aag		reelin		C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	63.0	50.0	54.0		9751,9751	5.8	0.8	7		54	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RELN	NM_005045.3,NM_173054.2	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	3251/3461,3251/3459	103130201	1,13005	2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103130201C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.9751G>A	7.37:g.103130201C>T	ENSP00000392423:p.Glu3251Lys					CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.E3251K|RELN_ENST00000428762.1_Missense_Mutation_p.E3251K	p.E3251K			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	60	9910	-			3251			EGF-like 8.		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.9751G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	32	5.182741	0.94885	0.0	1.16E-4	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.21191	2.02;2.02;2.02	5.81	5.81	0.92471	EGF, extracellular (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.108344	0.64402	N	0.000009	T	0.20861	0.0502	L	0.39633	1.23	0.80722	D	1	P;P	0.41188	0.741;0.624	B;B	0.36244	0.22;0.136	T	0.01087	-1.1456	10	0.35671	T	0.21	.	20.0795	0.97766	0.0:1.0:0.0:0.0	.	3251;3251	P78509-2;P78509	.;RELN_HUMAN	K	3251;3251;3251;768;3251	ENSP00000392423:E3251K;ENSP00000345694:E3251K;ENSP00000388446:E3251K	ENSP00000345694:E3251K	E	-	1	0	RELN	102917437	1.000000	0.71417	0.779000	0.31741	0.880000	0.50808	5.508000	0.67006	2.747000	0.94245	0.650000	0.86243	GAG		0.522	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		10	33	0	0	0	1	0	10	33				
NRXN3	9369	broad.mit.edu	37	14	79423682	79423682	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr14:79423682C>T	ENST00000554719.1	+	8	1745	c.1254C>T	c.(1252-1254)acC>acT	p.T418T	NRXN3_ENST00000335750.5_Silent_p.T418T	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	188					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TTAAGTTAACCGTGGATGATG	0.493																																						ENST00000554719.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(1252-1254)acC>acT		neurexin 3							295.0	256.0	269.0					14																	79423682		2203	4300	6503	SO:0001819	synonymous_variant	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79423682C>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1254C>T	14.37:g.79423682C>T						NRXN3_ENST00000335750.5_Silent_p.T418T	p.T418T	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	8	1745	+		Renal(4;0.00876)	188					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	ENST00000554719.1	37	c.1254C>T	CCDS9870.1																																																																																				0.493	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		24	67	0	0	0	1	0	24	67				
RELN	5649	broad.mit.edu	37	7	103389927	103389927	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:103389927A>G	ENST00000428762.1	-	6	761	c.602T>C	c.(601-603)aTc>aCc	p.I201T	RELN_ENST00000343529.5_Missense_Mutation_p.I201T|RELN_ENST00000424685.2_Missense_Mutation_p.I201T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	201					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATCTCTCAGGATAATGCTGTC	0.343																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(601-603)aTc>aCc		reelin							188.0	180.0	182.0					7																	103389927		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103389927A>G		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.602T>C	7.37:g.103389927A>G	ENSP00000392423:p.Ile201Thr					RELN_ENST00000343529.5_Missense_Mutation_p.I201T|RELN_ENST00000424685.2_Missense_Mutation_p.I201T	p.I201T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	6	761	-			201					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.602T>C	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	A	13.26	2.185422	0.38609	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.32272	1.46;1.46;1.46	5.31	5.31	0.75309	.	0.058186	0.64402	D	0.000001	T	0.47135	0.1429	L	0.55481	1.735	0.39576	D	0.96936	D;P	0.53462	0.96;0.932	D;P	0.64237	0.923;0.84	T	0.38351	-0.9665	10	0.31617	T	0.26	.	13.7926	0.63150	1.0:0.0:0.0:0.0	.	201;201	P78509-2;P78509	.;RELN_HUMAN	T	201	ENSP00000392423:I201T;ENSP00000345694:I201T;ENSP00000388446:I201T	ENSP00000345694:I201T	I	-	2	0	RELN	103177163	1.000000	0.71417	0.999000	0.59377	0.584000	0.36387	5.240000	0.65378	2.141000	0.66446	0.533000	0.62120	ATC		0.343	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		105	78	0	0	0	1	0	105	78				
NCOR2	9612	broad.mit.edu	37	12	124934366	124934366	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:124934366G>C	ENST00000405201.1	-	7	810	c.810C>G	c.(808-810)atC>atG	p.I270M	NCOR2_ENST00000404621.1_Missense_Mutation_p.I270M|NCOR2_ENST00000429285.2_Missense_Mutation_p.I270M|NCOR2_ENST00000404121.2_De_novo_Start_InFrame|NCOR2_ENST00000397355.1_Missense_Mutation_p.I270M|NCOR2_ENST00000356219.3_Missense_Mutation_p.I270M			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	270	Interaction with SIN3A/B. {ECO:0000250}.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CTCACATTTTGATGTTCTCAT	0.612																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(808-810)atC>atG		nuclear receptor corepressor 2							55.0	65.0	62.0					12																	124934366		2139	4252	6391	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124934366G>C	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.810C>G	12.37:g.124934366G>C	ENSP00000384018:p.Ile270Met					NCOR2_ENST00000404621.1_Missense_Mutation_p.I270M|NCOR2_ENST00000405201.1_Missense_Mutation_p.I270M|NCOR2_ENST00000429285.2_Missense_Mutation_p.I270M|NCOR2_ENST00000397355.1_Missense_Mutation_p.I270M|NCOR2_ENST00000404121.2_De_novo_Start_InFrame	p.I270M	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	8	965	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		270			Interaction with SIN3A/B (By similarity).		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.810C>G	CCDS41858.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.973|9.973	1.225983|1.225983	0.22542|0.22542	.|.	.|.	ENSG00000196498|ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000429285;ENST00000458234;ENST00000420698;ENST00000448008|ENST00000542927	T;T;T;T;T;T;T;T|.	0.38077|.	1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16|.	4.63|4.63	3.46|3.46	0.39613|0.39613	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.58424|.	0.2121|.	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	D;D;D|.	0.69078|.	0.995;0.995;0.997|.	D;D;D|.	0.78314|.	0.979;0.979;0.991|.	T|.	0.57183|.	-0.7855|.	10|.	0.87932|.	D|.	0|.	-29.289|-29.289	5.7215|5.7215	0.17990|0.17990	0.1814:0.0:0.8186:0.0|0.1814:0.0:0.8186:0.0	.|.	270;270;270|.	C9J0Q5;C9J239;C9JFD3|.	.;.;.|.	M|X	270;270;270;270;270;270;270;270;172|193	ENSP00000384018:I270M;ENSP00000384202:I270M;ENSP00000348551:I270M;ENSP00000380513:I270M;ENSP00000400281:I270M;ENSP00000402808:I270M;ENSP00000405367:I270M;ENSP00000403034:I172M|.	ENSP00000348551:I270M|.	I|S	-|-	3|2	3|0	NCOR2|NCOR2	123500319|123500319	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.798000|0.798000	0.45092|0.45092	1.283000|1.283000	0.33237|0.33237	2.281000|2.281000	0.76405|0.76405	0.313000|0.313000	0.20887|0.20887	ATC|TCA		0.612	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		17	31	0	0	0	1	0	17	31				
COL4A3BP	10087	broad.mit.edu	37	5	74807074	74807074	+	5'UTR	SNP	C	C	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:74807074C>G	ENST00000405807.4	-	0	380				COL4A3BP_ENST00000261415.7_5'UTR|POLK_ENST00000241436.4_5'Flank|POLK_ENST00000352007.5_5'Flank|COL4A3BP_ENST00000380494.5_Missense_Mutation_p.E115Q	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein						cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)	p.E115K(1)		breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		CCCGCTCCCTCAGCTGCGCCG	0.687																																						ENST00000380494.5																			1	Substitution - Missense(1)	p.E115K(1)	lung(1)	breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16						c.(343-345)Gag>Cag		collagen, type IV, alpha 3 (Goodpasture antigen) binding protein							9.0	10.0	10.0					5																	74807074		2177	4281	6458	SO:0001623	5_prime_UTR_variant	10087				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity	g.chr5:74807074C>G	AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"""StAR-related lipid transfer (START) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2205	protein-coding gene	gene with protein product	"""ceramide transporter"", ""StAR-related lipid transfer (START) domain containing 11"""	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.-42G>C	5.37:g.74807074C>G						COL4A3BP_ENST00000261415.7_5'UTR|COL4A3BP_ENST00000405807.4_5'UTR	p.E115Q	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1e-53)	2	636	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	0			PH.		A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Missense_Mutation	SNP	ENST00000405807.4	37	c.343G>C	CCDS4028.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071250	0.36566	.	.	ENSG00000113163	ENST00000380494	T	0.31769	1.48	3.69	2.81	0.32909	.	.	.	.	.	T	0.17746	0.0426	.	.	.	0.29991	N	0.816855	B	0.02656	0.0	B	0.01281	0.0	T	0.19321	-1.0309	8	0.13470	T	0.59	4.4822	11.4393	0.50088	0.0:0.3734:0.6266:0.0	.	115	Q9Y5P4-3	.	Q	115	ENSP00000369862:E115Q	ENSP00000369862:E115Q	E	-	1	0	COL4A3BP	74842830	0.754000	0.28360	0.601000	0.28877	0.517000	0.34286	1.818000	0.39012	0.896000	0.36366	-0.344000	0.07964	GAG		0.687	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2	NM_005713		6	6	0	0	0	1	0	6	6				
MYO1F	4542	broad.mit.edu	37	19	8606807	8606807	+	Silent	SNP	C	C	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:8606807C>G	ENST00000338257.8	-	15	1860	c.1593G>C	c.(1591-1593)ctG>ctC	p.L531L		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	531	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TGGTCTGCATCAGCTCTATGA	0.622																																						ENST00000338257.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(1591-1593)ctG>ctC		myosin IF							68.0	71.0	70.0					19																	8606807		2069	4214	6283	SO:0001819	synonymous_variant	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8606807C>G	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1593G>C	19.37:g.8606807C>G							p.L531L	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN			15	1860	-			531			Myosin head-like.		Q8WWN7	Silent	SNP	ENST00000338257.8	37	c.1593G>C	CCDS42494.1																																																																																				0.622	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			27	78	0	0	0	1	0	27	78				
TSIX	9383	broad.mit.edu	37	X	73047490	73047490	+	lincRNA	SNP	A	A	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:73047490A>G	ENST00000604411.1	+	0	35451				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		ATCACAGTTCACAAAGAGAAA	0.398																																						ENST00000604411.1																			0																				36.0	33.0	34.0					X																	73047490		876	1989	2865			9383							g.chrX:73047490A>G			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73047490A>G						XIST_ENST00000429829.1_lincRNA		NR_003255.2						0	35451	+									RNA	SNP	ENST00000604411.1	37																																																																																						0.398	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		8	19	0	0	0	1	0	8	19				
PRAMEF18	391003	broad.mit.edu	37	1	13474787	13474788	+	Frame_Shift_Ins	INS	-	-	G	rs200939483	byFrequency	TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:13474787_13474788insG	ENST00000376126.2	-	3	1340_1341	c.1341_1342insC	c.(1339-1344)cccaacfs	p.N448fs		NM_001099850.1	NP_001093320.1	Q5VWM3	PRA18_HUMAN	PRAME family member 18	448					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					lung(2)|ovary(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAGATCCTGTTGGGCTCCCTTA	0.564																																						ENST00000376126.2																			0				lung(2)|ovary(1)	3						c.(1339-1344)ccacagfs		PRAME family member 18																																				SO:0001589	frameshift_variant	391003							g.chr1:13474787_13474788insG			1p36.21	2013-01-17			ENSG00000204491			"""-"""	30693	protein-coding gene	gene with protein product							Standard			Approved	OTTHUMG00000002932		Q5VWM3	OTTHUMG00000002932	ENST00000376126.2:c.1342dupC	1.37:g.13474790_13474790dupG	ENSP00000365294:p.Asn448fs						p.Q448fs	NM_001099850.1	NP_001093320.1	Q5VWM3	PRA18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	1340_1341	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	448						Frame_Shift_Ins	INS	ENST00000376126.2	37	c.1341_1342insC	CCDS41258.1																																																																																				0.564	PRAMEF18-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008177.2	NM_001099850		5	9						5	9	---	---	---	---
KDF1	126695	broad.mit.edu	37	1	27277965	27277965	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:27277965G>A	ENST00000320567.5	-	2	995	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C		NM_152365.2	NP_689578.2	Q8NAX2	KDF1_HUMAN		303					developmental growth (GO:0048589)|establishment of skin barrier (GO:0061436)|keratinocyte development (GO:0003334)|limb epidermis development (GO:0060887)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|positive regulation of epidermal cell differentiation (GO:0045606)|regulation of epidermal cell division (GO:0010482)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		GTACTAATGCGAATGATGCCG	0.607																																						ENST00000320567.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(907-909)Cgc>Tgc		chromosome 1 open reading frame 172							55.0	51.0	52.0					1																	27277965		2203	4300	6503	SO:0001583	missense	126695							g.chr1:27277965G>A																												ENST00000320567.5:c.907C>T	1.37:g.27277965G>A	ENSP00000319179:p.Arg303Cys						p.R303C	NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)	2	995	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	303					Q5QP32|Q8N0S7	Missense_Mutation	SNP	ENST00000320567.5	37	c.907C>T	CCDS293.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277247	0.80580	.	.	ENSG00000175707	ENST00000320567	T	0.36520	1.25	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.52451	0.1735	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54596	-0.8270	10	0.87932	D	0	.	19.397	0.94611	0.0:0.0:1.0:0.0	.	303	Q8NAX2	CA172_HUMAN	C	303	ENSP00000319179:R303C	ENSP00000319179:R303C	R	-	1	0	C1orf172	27150552	1.000000	0.71417	1.000000	0.80357	0.576000	0.36127	9.405000	0.97313	2.594000	0.87642	0.555000	0.69702	CGC		0.607	C1orf172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012340.1			25	48	0	0	0	1	0	25	48				
OR5H1	26341	broad.mit.edu	37	3	97851704	97851706	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:97851704_97851706delCTT	ENST00000354565.2	+	1	163_165	c.163_165delCTT	c.(163-165)cttdel	p.L55del	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						AGACCCTCACCTTCATATCCCAA	0.424																																						ENST00000354565.2																			0				breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						c.(163-165)del		olfactory receptor, family 5, subfamily H, member 1																																				SO:0001651	inframe_deletion	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97851704_97851706delCTT	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.163_165delCTT	3.37:g.97851704_97851706delCTT	ENSP00000346575:p.Leu55del					RP11-343D2.11_ENST00000508964.1_RNA	p.L55del	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN			1	163_165	+			55						In_Frame_Del	DEL	ENST00000354565.2	37	c.163_165delCTT	CCDS33797.1																																																																																				0.424	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		7	206						7	206	---	---	---	---
ZNF876P	642280	broad.mit.edu	37	4	212236	212236	+	RNA	DEL	A	A	-	rs80061878		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr4:212236delA	ENST00000356347.3	+	0	172					NR_027481.1		Q49A33	Z876P_HUMAN	zinc finger protein 876, pseudogene						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										ctaaaaatacaaaaaaaaaaa	0.493																																						ENST00000356347.3																			0																																																			642280							g.chr4:212236delA	BC028359		4p16.3	2011-04-20	2010-08-03	2009-07-22	ENSG00000198155	ENSG00000198155			32472	pseudogene	pseudogene							Standard	NR_027481		Approved		uc010iba.4	Q49A33	OTTHUMG00000159874		4.37:g.212236delA								NR_027481.1						0	172	+									RNA	DEL	ENST00000356347.3	37																																																																																						0.493	ZNF876P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357870.2	NR_027481		2	4						2	4	---	---	---	---
LOC100505625	100505625	broad.mit.edu	37	5	6691009	6691012	+	lincRNA	DEL	CACA	CACA	-	rs55772162	byFrequency	TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:6691009_6691012delCACA	ENST00000503989.1	-	0	2756					NR_103771.1																						AAAGAAacaccacacacacacaca	0.471														956	0.190895	0.0946	0.2954	5008	,	,		15104	0.3115		0.1213	False		,,,				2504	0.1943					ENST00000503989.1																			0																																																			100505625							g.chr5:6691009_6691012delCACA																													5.37:g.6691017_6691020delCACA								NR_103771.1						0	2756	-									RNA	DEL	ENST00000503989.1	37																																																																																						0.471	CTD-2044J15.1-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000365837.1			2	4						2	4	---	---	---	---
MICAL1	64780	broad.mit.edu	37	6	109769587	109769587	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr6:109769587delT	ENST00000358807.3	-	13	1985	c.1674delA	c.(1672-1674)tcafs	p.S558fs	MICAL1_ENST00000358577.3_Frame_Shift_Del_p.S472fs|MICAL1_ENST00000368952.4_Frame_Shift_Del_p.S577fs	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	558	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CCTGCAGCTCTGAGGGTTCCC	0.607																																						ENST00000368952.4																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(1729-1731)tcfs		microtubule associated monooxygenase, calponin and LIM domain containing 1							88.0	90.0	90.0					6																	109769587		2203	4300	6503	SO:0001589	frameshift_variant	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109769587delT	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.1674delA	6.37:g.109769587delT	ENSP00000351664:p.Ser558fs					MICAL1_ENST00000358807.3_Frame_Shift_Del_p.S558fs|MICAL1_ENST00000358577.3_Frame_Shift_Del_p.S472fs	p.S577fs			Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	13	2021	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	558			CH.		B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Frame_Shift_Del	DEL	ENST00000358807.3	37	c.1731delA	CCDS5076.1																																																																																				0.607	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		86	191						86	191	---	---	---	---
C8orf33	65265	broad.mit.edu	37	8	146278237	146278238	+	Frame_Shift_Ins	INS	-	-	A	rs370076510	byFrequency	TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr8:146278237_146278238insA	ENST00000331434.6	+	2	386_387	c.272_273insA	c.(271-276)tcagagfs	p.E92fs		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	92										endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		GAGAAGGCCTCAGAGAAACTCG	0.594																																						ENST00000331434.6																			0				endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(271-273)tgafs		chromosome 8 open reading frame 33																																				SO:0001589	frameshift_variant	65265							g.chr8:146278237_146278238insA		CCDS34974.1	8q24.3	2012-04-11			ENSG00000182307	ENSG00000182307			26104	protein-coding gene	gene with protein product							Standard	NM_023080		Approved	FLJ20989	uc003zfc.4	Q9H7E9	OTTHUMG00000165256	ENST00000331434.6:c.273dupA	8.37:g.146278238_146278238dupA	ENSP00000330361:p.Glu92fs						p.*91fs	NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)	2	386_387	+	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		91					A6NGC0|Q96BT8	Frame_Shift_Ins	INS	ENST00000331434.6	37	c.272_273insA	CCDS34974.1																																																																																				0.594	C8orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382995.1	NM_023080		18	51						18	51	---	---	---	---
LURAP1L	286343	broad.mit.edu	37	9	12775861	12775862	+	In_Frame_Ins	INS	-	-	GGCGGCGGC	rs3833707|rs139315731		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:12775861_12775862insGGCGGCGGC	ENST00000319264.3	+	1	842_843	c.147_148insGGCGGCGGC	c.(148-150)ggc>GGCGGCGGCggc	p.50_50G>GGGG	LURAP1L_ENST00000489107.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA	NM_203403.1	NP_981948.1	Q8IV03	LUR1L_HUMAN	leucine rich adaptor protein 1-like	53	Gly-rich.							p.G49_G50insGGG(2)|p.G50_G52delGGG(1)									gcggtggtggtggcggcggcgg	0.688																																						ENST00000319264.3																			3	Insertion - In frame(2)|Deletion - In frame(1)	p.G49_G50insGGG(2)|p.G50_G52delGGG(1)	large_intestine(1)|prostate(1)|central_nervous_system(1)								c.(145-150)gggcgg>ggGGCGGCGGCgcgg		leucine rich adaptor protein 1-like																																				SO:0001652	inframe_insertion	286343							g.chr9:12775861_12775862insGGCGGCGGC	AK095824	CCDS6473.1	9p22.3	2012-02-01	2012-02-01	2012-02-01	ENSG00000153714	ENSG00000153714			31452	protein-coding gene	gene with protein product	"""similar to DNA segment, Chr 4, Brigham & Womens Genetics 0951 expressed"""		"""chromosome 9 open reading frame 150"""	C9orf150		12766061	Standard	NM_203403		Approved	MGC46502, FLJ38505, bA3L8.2	uc003zkw.3	Q8IV03	OTTHUMG00000019557	ENST00000319264.3:c.157_165dupGGCGGCGGC	9.37:g.12775862_12775870dupGGCGGCGGC	ENSP00000321026:p.GlyGlyGly53dup					LURAP1L_ENST00000489107.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA	p.49_50GR>GAAAR	NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN			1	842_843	+			49		Missing.	Gly-rich.		Q5VZX7|Q8N923|Q8NCG2	In_Frame_Ins	INS	ENST00000319264.3	37	c.147_148insGGCGGCGGC	CCDS6473.1																																																																																				0.688	LURAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051730.1	NM_203403		6	10						6	10	---	---	---	---
LOC403323	403323	broad.mit.edu	37	9	66545695	66545695	+	lincRNA	DEL	A	A	-	rs368616794|rs199855162|rs56683069		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:66545695delA	ENST00000445604.2	-	0	669																											CTGTAAGAGGAAAAAAAAACA	0.373																																						ENST00000445604.2																			0																																																			403323							g.chr9:66545695delA																													9.37:g.66545695delA														0	669	-									RNA	DEL	ENST00000445604.2	37																																																																																						0.373	RP11-262H14.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037074.2			2	4						2	4	---	---	---	---
FOLH1B	219595	broad.mit.edu	37	11	89409584	89409584	+	RNA	DEL	T	T	-			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr11:89409584delT	ENST00000532352.1	+	0	1261							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						cttttcttacttttttttttt	0.343																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89409584delT	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89409584delT										Q9HBA9	FOH1B_HUMAN			0	1261	+									RNA	DEL	ENST00000532352.1	37																																																																																						0.343	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		2	4						2	4	---	---	---	---
BARX2	8538	broad.mit.edu	37	11	129306804	129306805	+	Frame_Shift_Ins	INS	-	-	T	rs201693114		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr11:129306804_129306805insT	ENST00000281437.4	+	2	442_443	c.346_347insT	c.(346-348)ctafs	p.L116fs	BARX2_ENST00000526127.1_5'UTR	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	116					cartilage condensation (GO:0001502)|catagen (GO:0042637)|myotube differentiation (GO:0014902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		GGGCGAGGCCCTAGCCAGCAGC	0.688																																						ENST00000281437.4																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						c.(346-348)agcfs		BARX homeobox 2																																				SO:0001589	frameshift_variant	8538							g.chr11:129306804_129306805insT	AF031924	CCDS8481.1	11q24.3	2011-06-20	2007-07-09		ENSG00000043039	ENSG00000043039		"""Homeoboxes / ANTP class : NKL subclass"""	956	protein-coding gene	gene with protein product		604823	"""BarH-like homeobox 2"""			10644443	Standard	NM_003658		Approved		uc001qfc.4	Q9UMQ3	OTTHUMG00000165776	ENST00000281437.4:c.347dupT	11.37:g.129306805_129306805dupT	ENSP00000281437:p.Leu116fs					BARX2_ENST00000526127.1_5'UTR	p.S116fs	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)	2	442_443	+	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	116					O43518|Q6NT51	Frame_Shift_Ins	INS	ENST00000281437.4	37	c.346_347insT	CCDS8481.1																																																																																				0.688	BARX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386153.1	NM_003658		13	42						13	42	---	---	---	---
PCBP2	5094	broad.mit.edu	37	12	53856277	53856278	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:53856277_53856278insC	ENST00000439930.3	+	7	539_540	c.517_518insC	c.(517-519)tccfs	p.S173fs	PCBP2_ENST00000359282.5_Splice_Site_p.S169fs|PCBP2_ENST00000549863.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000552819.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000603815.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000437231.1_Splice_Site_p.S169fs|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000541275.1_Splice_Site_p.S169fs|PCBP2_ENST00000548933.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000546463.1_Splice_Site_p.S169fs|PCBP2_ENST00000552296.2_Splice_Site_p.S169fs|PCBP2_ENST00000359462.5_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000455667.3_Splice_Site_p.S169fs|PCBP2_ENST00000447282.1_Frame_Shift_Ins_p.S173fs			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	173					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						TCTCTCCCAGTCCCCCCCGAAG	0.5																																						ENST00000603815.1																			0				central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.(517-519)cccfs		poly(rC) binding protein 2																																				SO:0001589	frameshift_variant	5094				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	g.chr12:53856277_53856278insC	BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"""heterogenous nuclear ribonucleoprotein E2"""	601210	"""poly(rC)-binding protein 2"""			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.524dupC	12.37:g.53856284_53856284dupC	ENSP00000408949:p.Ser173fs					PCBP2_ENST00000552819.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000552296.2_Splice_Site_p.P169_splice|PCBP2_ENST00000549863.1_Frame_Shift_Ins_p.P173fs|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000455667.3_Splice_Site_p.P169_splice|PCBP2_ENST00000447282.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000541275.1_Splice_Site_p.P169_splice|PCBP2_ENST00000439930.3_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000437231.1_Splice_Site_p.P169_splice|PCBP2_ENST00000546463.1_Splice_Site_p.P169_splice|PCBP2_ENST00000359462.5_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000548933.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000359282.5_Splice_Site_p.P169_splice	p.P173fs	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN			8	867_868	+			173					A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Frame_Shift_Ins	INS	ENST00000439930.3	37	c.517_518insC	CCDS44901.1																																																																																				0.500	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	NM_005016		36	52						36	52	---	---	---	---
CHRM5	1133	broad.mit.edu	37	15	34355774	34355775	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr15:34355774_34355775insA	ENST00000383263.5	+	3	1526_1527	c.856_857insA	c.(856-858)caafs	p.Q286fs	CHRM5_ENST00000557872.1_Frame_Shift_Ins_p.Q286fs	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	286					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GAAGCCATCCCAAGCCACTGGC	0.639																																						ENST00000383263.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20						c.(856-858)agcfs		cholinergic receptor, muscarinic 5	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)																																			SO:0001589	frameshift_variant	1133				cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr15:34355774_34355775insA		CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1954	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 5"""	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.858dupA	15.37:g.34355776_34355776dupA	ENSP00000372750:p.Gln286fs					CHRM5_ENST00000557872.1_Frame_Shift_Ins_p.S286fs	p.S286fs	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	3	1526_1527	+		all_lung(180;1.76e-08)	286					Q96RG7	Frame_Shift_Ins	INS	ENST00000383263.5	37	c.856_857insA	CCDS10031.1																																																																																				0.639	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2			9	121						9	121	---	---	---	---
EMC7	56851	broad.mit.edu	37	15	34376648	34376663	+	Frame_Shift_Del	DEL	CATGGTTGGAATTCAG	CATGGTTGGAATTCAG	-			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr15:34376648_34376663delCATGGTTGGAATTCAG	ENST00000256545.4	-	5	709_724	c.601_616delCTGAATTCCAACCATG	c.(601-618)ctgaattccaaccatgagfs	p.LNSNHE201fs		NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	201						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										TCAGGCAACTCATGGTTGGAATTCAGCATATTCATT	0.421																																						ENST00000256545.4																			0											c.(601-618)agfs		ER membrane protein complex subunit 7																																				SO:0001589	frameshift_variant	56851							g.chr15:34376648_34376663delCATGGTTGGAATTCAG	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 24"""	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.601_616delCTGAATTCCAACCATG	15.37:g.34376648_34376663delCATGGTTGGAATTCAG	ENSP00000256545:p.Leu201fs						p.LNSNHE201fs	NM_020154.2	NP_064539.1					5	709_724	-								B2RC00|Q96ED5	Frame_Shift_Del	DEL	ENST00000256545.4	37	c.601_616delCTGAATTCCAACCATG	CCDS10032.1																																																																																				0.421	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251519.1	NM_020154		21	105						21	105	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74378975	74378976	+	RNA	INS	-	-	TTT	rs35591542|rs370164303		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr16:74378975_74378976insTTT	ENST00000429810.2	-	0	1086																											AACCTCTTGAAttttttttttt	0.421																																						ENST00000429810.2																			0																																																			0							g.chr16:74378975_74378976insTTT																													16.37:g.74378982_74378984dupTTT														0	1086	-									RNA	INS	ENST00000429810.2	37																																																																																						0.421	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			2	4						2	4	---	---	---	---
C5AR1	728	broad.mit.edu	37	19	47823353	47823354	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:47823353_47823354insC	ENST00000355085.3	+	2	341_342	c.319_320insC	c.(319-321)gccfs	p.A107fs		NM_001736.3	NP_001727.1	P21730	C5AR1_HUMAN	complement component 5a receptor 1	107					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|cell proliferation in hindbrain (GO:0021534)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|complement component C5a signaling pathway (GO:0038178)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ regeneration (GO:0031100)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)|complement component C5a receptor activity (GO:0004878)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CTTTGGCGGGGCCGCCTGCAGC	0.604																																						ENST00000355085.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20						c.(319-321)cgcfs		complement component 5a receptor 1																																				SO:0001589	frameshift_variant	728				activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity	g.chr19:47823353_47823354insC		CCDS33063.1	19q13.3-q13.4	2012-08-10	2006-02-09	2006-02-09		ENSG00000197405		"""CD molecules"", ""Complement system"", ""GPCR / Class A : Complement component receptors"""	1338	protein-coding gene	gene with protein product		113995	"""complement component 5 receptor 1 (C5a ligand)"""	C5R1		1612600	Standard	NM_001736		Approved	C5A, C5AR, CD88	uc002pgj.1	P21730		ENST00000355085.3:c.321dupC	19.37:g.47823355_47823355dupC	ENSP00000347197:p.Ala107fs						p.R107fs	NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)	2	341_342	+		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	107						Frame_Shift_Ins	INS	ENST00000355085.3	37	c.319_320insC	CCDS33063.1																																																																																				0.604	C5AR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466925.1	NM_001736		7	116						7	116	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11093134	11093135	+	RNA	INS	-	-	C	rs61073561|rs139629046|rs397730308	byFrequency	TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr21:11093134_11093135insC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTTCTCCCCTACCCCCCACAAC	0.401													cccccc|CCCCCC|CCCCCCC|insertion	1921	0.383586	0.3101	0.4452	5008	,	,		116667	0.3661		0.4732	False		,,,				2504	0.365					ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11093134_11093135insC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11093140_11093140dupC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.401	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
CXCR3	2833	broad.mit.edu	37	X	70836869	70836870	+	Frame_Shift_Ins	INS	-	-	AGGT			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:70836869_70836870insAGGT	ENST00000373693.3	-	2	519_520	c.452_453insACCT	c.(451-453)ctgfs	p.-151fs	CXCR3_ENST00000373691.4_Frame_Shift_Ins_p.-198fs	NM_001504.1	NP_001495.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|calcium-mediated signaling (GO:0019722)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|chemokine (C-C motif) ligand 11 production (GO:0071954)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of leukocyte migration (GO:0002685)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|chemokine binding (GO:0019956)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					GAACTATGTTCAGGTAGCGGTC	0.634																																						ENST00000373691.4																			0				breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10						c.(592-594)caafs		chemokine (C-X-C motif) receptor 3																																				SO:0001589	frameshift_variant	2833				cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity	g.chrX:70836869_70836870insAGGT	U32674	CCDS14416.1, CCDS48135.1	Xq13	2012-08-08	2002-08-22	2002-08-23	ENSG00000186810	ENSG00000186810		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	4540	protein-coding gene	gene with protein product		300574	"""G protein-coupled receptor 9"""	GPR9		8666380, 9064356	Standard	NM_001142797		Approved	CKR-L2, CMKAR3, IP10-R, MigR, CD183	uc011mpx.2	P49682	OTTHUMG00000033326	ENST00000373693.3:c.449_452dupACCT	X.37:g.70836870_70836873dupAGGT	ENSP00000362797:p.Leu151fs					CXCR3_ENST00000373693.3_Frame_Shift_Ins_p.Q151fs	p.Q198fs	NM_001142797.1	NP_001136269.1	P49682	CXCR3_HUMAN			2	756_757	-	Renal(35;0.156)		151					B2R982|O15185|Q7Z710|Q9P2T4|Q9P2T5	Frame_Shift_Ins	INS	ENST00000373693.3	37	c.593_594insACCT	CCDS14416.1																																																																																				0.634	CXCR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144141.1			10	39						10	39	---	---	---	---
