#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
MYO16	23026	broad.mit.edu	37	13	109562362	109562362	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr13:109562362A>G	ENST00000357550.2	+	15	1764	c.1723A>G	c.(1723-1725)Aca>Gca	p.T575A	MYO16_ENST00000356711.2_Missense_Mutation_p.T575A|MYO16_ENST00000457511.2_Missense_Mutation_p.T87A|MYO16_ENST00000251041.5_Missense_Mutation_p.T575A	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CAGAATTTATACATATTTGCT	0.323																																						ENST00000356711.2																			0				NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(1723-1725)Aca>Gca		myosin XVI							121.0	128.0	126.0					13																	109562362		2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109562362A>G		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.1723A>G	13.37:g.109562362A>G	ENSP00000350160:p.Thr575Ala					MYO16_ENST00000357550.2_Missense_Mutation_p.T575A|MYO16_ENST00000251041.5_Missense_Mutation_p.T575A|MYO16_ENST00000457511.2_Missense_Mutation_p.T87A	p.T575A	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		16	1849	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		575			Myosin head-like 1.			Missense_Mutation	SNP	ENST00000357550.2	37	c.1723A>G	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	A	7.472	0.646820	0.14516	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857;ENST00000457511	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	5.09	3.91	0.45181	Myosin head, motor domain (2);	0.000000	0.41823	U	0.000820	D	0.88032	0.6328	M	0.91663	3.23	0.45690	D	0.998609	B;B;B	0.22800	0.012;0.004;0.075	B;B;B	0.19666	0.009;0.005;0.026	D	0.83541	0.0096	9	.	.	.	.	8.5084	0.33201	0.9123:0.0:0.0877:0.0	.	87;575;575	F8W883;Q9Y6X6-2;Q9Y6X6	.;.;MYO16_HUMAN	A	575;575;575;575;363;87	ENSP00000349145:T575A;ENSP00000350160:T575A;ENSP00000251041:T575A;ENSP00000401633:T87A	.	T	+	1	0	MYO16	108360363	1.000000	0.71417	0.223000	0.23860	0.843000	0.47879	3.546000	0.53656	0.798000	0.33994	0.482000	0.46254	ACA		0.323	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		28	64	0	0	0	1	0	28	64				
PLEKHH3	79990	broad.mit.edu	37	17	40825682	40825682	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:40825682C>G	ENST00000591022.1	-	4	856	c.469G>C	c.(469-471)Gag>Cag	p.E157Q	PLEKHH3_ENST00000293349.6_Missense_Mutation_p.E157Q|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.E157Q|PLEKHH3_ENST00000456950.2_5'UTR	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	157	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CGCCTGCGCTCTGGGCCGGTC	0.672																																						ENST00000293349.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13						c.(469-471)Gag>Cag		pleckstrin homology domain containing, family H (with MyTH4 domain) member 3							22.0	22.0	22.0					17																	40825682		2115	4146	6261	SO:0001583	missense	79990				signal transduction	cytoskeleton		g.chr17:40825682C>G	BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"""Pleckstrin homology (PH) domain containing"""	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.469G>C	17.37:g.40825682C>G	ENSP00000468678:p.Glu157Gln					PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000591022.1_Missense_Mutation_p.E157Q|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.E157Q	p.E157Q			Q7Z736	PKHH3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	4	899	-		Breast(137;0.00116)	157			PH.		C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Missense_Mutation	SNP	ENST00000591022.1	37	c.469G>C	CCDS11434.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043342	0.75732	.	.	ENSG00000068137	ENST00000293349;ENST00000412503	T;T	0.63580	-0.05;-0.05	5.04	5.04	0.67666	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.49916	D	0.000132	T	0.64886	0.2639	L	0.54323	1.7	0.33265	D	0.560276	D;P	0.56035	0.974;0.956	P;P	0.53146	0.719;0.527	T	0.73852	-0.3852	10	0.48119	T	0.1	-35.0733	8.996	0.36052	0.0:0.8369:0.0:0.1631	.	157;157	Q7Z736-2;Q7Z736	.;PKHH3_HUMAN	Q	157	ENSP00000293349:E157Q;ENSP00000411885:E157Q	ENSP00000293349:E157Q	E	-	1	0	PLEKHH3	38079208	1.000000	0.71417	0.960000	0.40013	0.979000	0.70002	5.833000	0.69349	2.618000	0.88619	0.591000	0.81541	GAG		0.672	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	NM_024927		29	53	0	0	0	1	0	29	53				
IRAK3	11213	broad.mit.edu	37	12	66610963	66610963	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr12:66610963C>A	ENST00000261233.4	+	6	1022	c.601C>A	c.(601-603)Cag>Aag	p.Q201K	IRAK3_ENST00000457197.2_Missense_Mutation_p.Q140K	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GAAAAAAATGCAGTGTAAGAA	0.373																																						ENST00000261233.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36						c.(601-603)Cag>Aag		interleukin-1 receptor-associated kinase 3							337.0	359.0	352.0					12																	66610963		2203	4300	6503	SO:0001583	missense	11213				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66610963C>A	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.601C>A	12.37:g.66610963C>A	ENSP00000261233:p.Gln201Lys					IRAK3_ENST00000457197.2_Missense_Mutation_p.Q140K	p.Q201K	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	6	1022	+			201			Protein kinase.			Missense_Mutation	SNP	ENST00000261233.4	37	c.601C>A	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.195081	0.38806	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.63417	-0.04;-0.04	5.14	4.24	0.50183	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.536026	0.18872	N	0.128810	T	0.59059	0.2166	M	0.67953	2.075	0.31340	N	0.683764	P;P	0.43701	0.779;0.815	B;B	0.39503	0.199;0.301	T	0.65409	-0.6175	9	.	.	.	-2.9985	11.6065	0.51035	0.0:0.8198:0.1802:0.0	.	140;201	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	K	201;140	ENSP00000261233:Q201K;ENSP00000409852:Q140K	.	Q	+	1	0	IRAK3	64897230	0.295000	0.24389	0.935000	0.37517	0.748000	0.42578	1.501000	0.35693	1.126000	0.42016	0.462000	0.41574	CAG		0.373	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			98	229	1	0	6.51614e-51	1	7.90082e-51	98	229				
SHANK1	50944	broad.mit.edu	37	19	51201115	51201115	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr19:51201115G>A	ENST00000293441.1	-	12	1864	c.1846C>T	c.(1846-1848)Cag>Tag	p.Q616*	SHANK1_ENST00000391814.1_Nonsense_Mutation_p.Q616*|SHANK1_ENST00000359082.3_Nonsense_Mutation_p.Q616*	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	616					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TTGCTCTCCTGAGAGCGATTC	0.567																																						ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(1846-1848)Cag>Tag		SH3 and multiple ankyrin repeat domains 1							82.0	72.0	76.0					19																	51201115		2203	4300	6503	SO:0001587	stop_gained	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51201115G>A	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.1846C>T	19.37:g.51201115G>A	ENSP00000293441:p.Gln616*					SHANK1_ENST00000359082.3_Nonsense_Mutation_p.Q616*|SHANK1_ENST00000391814.1_Nonsense_Mutation_p.Q616*	p.Q616*	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	12	1864	-		all_neural(266;0.057)	616					A8MXP5|B7WNY6|Q9NYW9	Nonsense_Mutation	SNP	ENST00000293441.1	37	c.1846C>T	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	G	38	6.744760	0.97805	.	.	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	.	.	.	3.27	3.27	0.37495	.	0.218786	0.29300	U	0.012553	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.4747	13.8246	0.63343	0.0:0.0:1.0:0.0	.	.	.	.	X	616	.	ENSP00000293441:Q616X	Q	-	1	0	SHANK1	55892927	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	3.374000	0.52402	1.836000	0.53414	0.457000	0.33378	CAG		0.567	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		9	33	0	0	0	1	0	9	33				
PRPF8	10594	broad.mit.edu	37	17	1578550	1578550	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:1578550C>G	ENST00000572621.1	-	19	3221	c.2956G>C	c.(2956-2958)Gag>Cag	p.E986Q	PRPF8_ENST00000304992.6_Missense_Mutation_p.E986Q			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	986	Reverse transcriptase homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCGATCTTCTCATACATCTTC	0.517																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(2956-2958)Gag>Cag		pre-mRNA processing factor 8							191.0	143.0	159.0					17																	1578550		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1578550C>G	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.2956G>C	17.37:g.1578550C>G	ENSP00000460348:p.Glu986Gln					PRPF8_ENST00000304992.6_Missense_Mutation_p.E986Q	p.E986Q			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	19	3221	-			986					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.2956G>C	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	C	34	5.317539	0.95682	.	.	ENSG00000174231	ENST00000304992	D	0.81579	-1.51	5.89	5.89	0.94794	RNA recognition motif, spliceosomal PrP8 (1);	0.000000	0.85682	D	0.000000	D	0.92672	0.7671	M	0.93808	3.46	0.80722	D	1	D	0.60160	0.987	D	0.69479	0.964	D	0.93658	0.6979	10	0.87932	D	0	.	20.2562	0.98421	0.0:1.0:0.0:0.0	.	986	Q6P2Q9	PRP8_HUMAN	Q	986	ENSP00000304350:E986Q	ENSP00000304350:E986Q	E	-	1	0	PRPF8	1525300	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.797000	0.96272	0.563000	0.77884	GAG		0.517	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			17	37	0	0	0	1	0	17	37				
MAP3K9	4293	broad.mit.edu	37	14	71227802	71227802	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr14:71227802C>A	ENST00000554752.2	-	3	917	c.918G>T	c.(916-918)aaG>aaT	p.K306N	MAP3K9_ENST00000555993.2_Missense_Mutation_p.K306N|MAP3K9_ENST00000381250.4_Missense_Mutation_p.K306N|MAP3K9_ENST00000553414.1_5'UTR|MAP3K9_ENST00000554146.1_Missense_Mutation_p.K43N	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	306	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CCGCACTCATCTTGGTGGTTC	0.542																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(916-918)aaG>aaT		mitogen-activated protein kinase kinase kinase 9							161.0	140.0	147.0					14																	71227802		2203	4300	6503	SO:0001583	missense	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71227802C>A	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.918G>T	14.37:g.71227802C>A	ENSP00000451612:p.Lys306Asn					MAP3K9_ENST00000555993.2_Missense_Mutation_p.K306N|MAP3K9_ENST00000381250.4_Missense_Mutation_p.K306N|MAP3K9_ENST00000553414.1_5'UTR|MAP3K9_ENST00000554146.1_Missense_Mutation_p.K43N	p.K306N			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	3	917	-			306			Protein kinase.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37	c.918G>T		.	.	.	.	.	.	.	.	.	.	C	20.4	3.980721	0.74474	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000381250;ENST00000554146;ENST00000542284	D;D;D	0.83673	-1.75;-1.75;-1.75	5.13	5.13	0.70059	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81772	0.4893	N	0.13168	0.305	0.50467	D	0.999871	D;D;D	0.76494	0.998;0.999;0.997	D;D;D	0.75020	0.974;0.985;0.964	T	0.82810	-0.0273	10	0.66056	D	0.02	.	9.6918	0.40134	0.0:0.8768:0.0:0.1232	.	43;306;306	G3V4P9;P80192;P80192-4	.;M3K9_HUMAN;.	N	306;306;306;43;34	ENSP00000451612:K306N;ENSP00000370649:K306N;ENSP00000451921:K43N	ENSP00000005198:K306N	K	-	3	2	MAP3K9	70297555	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.613000	0.36900	2.685000	0.91497	0.455000	0.32223	AAG		0.542	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			35	93	1	0	1.08052e-11	1	1.22585e-11	35	93				
EPG5	57724	broad.mit.edu	37	18	43535048	43535048	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr18:43535048C>A	ENST00000282041.5	-	2	354	c.320G>T	c.(319-321)gGa>gTa	p.G107V		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	107					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TCTGGCCTCTCCCCCTTCCTT	0.498																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(319-321)gGa>gTa		ectopic P-granules autophagy protein 5 homolog (C. elegans)							103.0	99.0	101.0					18																	43535048		1953	4140	6093	SO:0001583	missense	57724				autophagy			g.chr18:43535048C>A	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.320G>T	18.37:g.43535048C>A	ENSP00000282041:p.Gly107Val						p.G107V	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			2	354	-			107					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.320G>T	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	11.05	1.525228	0.27299	.	.	ENSG00000152223	ENST00000282041	T	0.10005	2.92	5.67	-1.65	0.08291	.	0.930374	0.09173	N	0.838576	T	0.07908	0.0198	N	0.19112	0.55	0.09310	N	0.999998	B;B	0.30361	0.277;0.13	B;B	0.34093	0.175;0.125	T	0.41893	-0.9483	10	0.33141	T	0.24	0.013	10.8612	0.46827	0.0:0.17:0.0:0.83	.	107;107	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	V	107	ENSP00000282041:G107V	ENSP00000282041:G107V	G	-	2	0	EPG5	41789046	0.031000	0.19500	0.000000	0.03702	0.001000	0.01503	-0.216000	0.09266	-0.560000	0.06102	-0.244000	0.11960	GGA		0.498	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		22	63	1	0	5.35356e-11	1	6.03832e-11	22	63				
SPSB3	90864	broad.mit.edu	37	16	1827827	1827827	+	Silent	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr16:1827827G>A	ENST00000566339.1	-	6	972	c.642C>T	c.(640-642)ttC>ttT	p.F214F	SPSB3_ENST00000301717.4_Silent_p.F214F	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	214	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						AGCCCTGGCCGAACCGCGATG	0.642																																						ENST00000566339.1																			0				endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						c.(640-642)ttC>ttT		splA/ryanodine receptor domain and SOCS box containing 3							66.0	63.0	64.0					16																	1827827		2196	4300	6496	SO:0001819	synonymous_variant	90864				intracellular signal transduction			g.chr16:1827827G>A		CCDS32365.1	16p13.3	2008-02-05				ENSG00000162032			30629	protein-coding gene	gene with protein product		611659	"""chromosome 16 open reading frame 31"""	C16orf31		12076535	Standard	NM_080861		Approved	SSB-3	uc002cmu.3	Q6PJ21		ENST00000566339.1:c.642C>T	16.37:g.1827827G>A						SPSB3_ENST00000301717.4_Silent_p.F214F	p.F214F	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN			6	972	-			214			B30.2/SPRY.		D3DU78|Q49A96|Q86X18|Q8WXK5|Q96IE6|Q96RY2	Silent	SNP	ENST00000566339.1	37	c.642C>T	CCDS32365.1																																																																																				0.642	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433512.1	NM_080861		3	36	0	0	0	1	0	3	36				
SLC4A1	6521	broad.mit.edu	37	17	42334906	42334906	+	Missense_Mutation	SNP	C	C	T	rs121912756		TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:42334906C>T	ENST00000262418.6	-	13	1593	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	SLC4A1_ENST00000471005.1_5'Flank|AC003043.1_ENST00000597382.1_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	480	Membrane (anion exchange).		E -> K (in FR(a+) antigen). {ECO:0000269|PubMed:11061863}.		anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCGTTGGTCTCGCAGAACTGC	0.607																																						ENST00000262418.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40	GRCh37	CM004493	SLC4A1	M	rs121912756	c.(1438-1440)Gag>Aag		solute carrier family 4 (anion exchanger), member 1							91.0	77.0	82.0					17																	42334906		2203	4300	6503	SO:0001583	missense	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42334906C>T		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.1438G>A	17.37:g.42334906C>T	ENSP00000262418:p.Glu480Lys						p.E480K	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	13	1593	-		Breast(137;0.014)|Prostate(33;0.0181)	480		E -> K (in FR(a+) antigen).	Membrane (anion exchange).		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	ENST00000262418.6	37	c.1438G>A	CCDS11481.1	.	.	.	.	.	.	.	.	.	.	c	7.732	0.699400	0.15106	.	.	ENSG00000004939	ENST00000262418	T	0.78003	-1.14	5.57	-4.43	0.03568	Bicarbonate transporter, C-terminal (1);	0.878901	0.10246	N	0.697724	T	0.41650	0.1168	N	0.02765	-0.5	0.09310	A	5.24469e-09	B;B	0.15141	0.012;0.001	B;B	0.14578	0.011;0.004	T	0.47302	-0.9128	9	0.02654	T	1	.	3.7394	0.08524	0.0915:0.5163:0.1807:0.2115	.	480;480	E2RVJ0;P02730	.;B3AT_HUMAN	K	480	ENSP00000262418:E480K	ENSP00000262418:E480K	E	-	1	0	SLC4A1	39690432	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-1.655000	0.01982	-0.765000	0.04645	0.561000	0.74099	GAG		0.607	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		20	39	0	0	0	1	0	20	39				
UAP1	6675	broad.mit.edu	37	1	162558505	162558505	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:162558505C>T	ENST00000367925.1	+	6	1083	c.1051C>T	c.(1051-1053)Cac>Tac	p.H351Y	UAP1_ENST00000367924.1_Missense_Mutation_p.H351Y|UAP1_ENST00000271469.3_Missense_Mutation_p.H351Y|UAP1_ENST00000367926.4_Missense_Mutation_p.H351Y			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	351					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TCAGTTGCAGCACCATGTGGC	0.373																																						ENST00000271469.3																			0				breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22						c.(1051-1053)Cac>Tac		UDP-N-acteylglucosamine pyrophosphorylase 1							118.0	121.0	120.0					1																	162558505		2203	4300	6503	SO:0001583	missense	6675				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity	g.chr1:162558505C>T	AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.1051C>T	1.37:g.162558505C>T	ENSP00000356902:p.His351Tyr					UAP1_ENST00000367924.1_Missense_Mutation_p.H351Y|UAP1_ENST00000367926.4_Missense_Mutation_p.H351Y|UAP1_ENST00000367925.1_Missense_Mutation_p.H351Y	p.H351Y			Q16222	UAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		7	1353	+	all_hematologic(112;0.115)		351					B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Missense_Mutation	SNP	ENST00000367925.1	37	c.1051C>T		.	.	.	.	.	.	.	.	.	.	C	10.80	1.451665	0.26074	.	.	ENSG00000117143	ENST00000367926;ENST00000271469;ENST00000367925;ENST00000367924	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.03915	0.0110	N	0.13371	0.34	0.50039	D	0.999846	B	0.26483	0.15	B	0.28232	0.087	T	0.08086	-1.0739	9	0.02654	T	1	-7.4958	17.4411	0.87565	0.0:1.0:0.0:0.0	.	351	Q16222-2	.	Y	351	ENSP00000356903:H351Y;ENSP00000271469:H351Y;ENSP00000356902:H351Y;ENSP00000356901:H351Y	ENSP00000271469:H351Y	H	+	1	0	UAP1	160825129	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.831000	0.69330	2.441000	0.82636	0.655000	0.94253	CAC		0.373	UAP1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000083203.1	NM_003115		29	75	0	0	0	1	0	29	75				
GABPB1	2553	broad.mit.edu	37	15	50592997	50592997	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr15:50592997G>T	ENST00000220429.8	-	6	890	c.722C>A	c.(721-723)tCa>tAa	p.S241*	GABPB1_ENST00000380877.3_Nonsense_Mutation_p.S229*|GABPB1_ENST00000359031.4_Nonsense_Mutation_p.S229*|GABPB1_ENST00000396464.3_Nonsense_Mutation_p.S229*|GABPB1_ENST00000543881.1_Nonsense_Mutation_p.S165*|GABPB1_ENST00000560825.1_Nonsense_Mutation_p.S229*|GABPB1_ENST00000429662.2_Nonsense_Mutation_p.S241*			Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	241					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						TGGAGTTTCTGAAGAATTGGA	0.438																																						ENST00000380877.3																			0				cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						c.(685-687)tCa>tAa		GA binding protein transcription factor, beta subunit 1							87.0	84.0	85.0					15																	50592997		2196	4295	6491	SO:0001587	stop_gained	2553				positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr15:50592997G>T	D13316	CCDS10135.1, CCDS10136.1, CCDS32239.1, CCDS45258.1	15q21.2	2013-01-10	2008-02-25	2008-02-25	ENSG00000104064	ENSG00000104064		"""Ankyrin repeat domain containing"""	4074	protein-coding gene	gene with protein product		600610	"""GA binding protein transcription factor, beta subunit 2"""	GABPB2		7958862	Standard	NM_016655		Approved	E4TF1-47, GABPB	uc001zyb.3	Q06547	OTTHUMG00000131642	ENST00000220429.8:c.722C>A	15.37:g.50592997G>T	ENSP00000220429:p.Ser241*					GABPB1_ENST00000359031.4_Nonsense_Mutation_p.S229*|GABPB1_ENST00000429662.2_Nonsense_Mutation_p.S241*|GABPB1_ENST00000560825.1_Nonsense_Mutation_p.S229*|GABPB1_ENST00000543881.1_Nonsense_Mutation_p.S165*|GABPB1_ENST00000220429.8_Nonsense_Mutation_p.S241*|GABPB1_ENST00000396464.3_Nonsense_Mutation_p.S229*	p.S229*	NM_005254.5|NM_016654.4	NP_005245.2|NP_057738.1	Q06547	GABP1_HUMAN			6	1109	-			241					A8IE52|Q06545|Q12940|Q12941|Q12942|Q8IYD0	Nonsense_Mutation	SNP	ENST00000220429.8	37	c.686C>A	CCDS32239.1	.	.	.	.	.	.	.	.	.	.	G	38	7.141282	0.98092	.	.	ENSG00000104064	ENST00000220429;ENST00000380877;ENST00000543881;ENST00000396464;ENST00000429662;ENST00000359031	.	.	.	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-14.6095	19.9403	0.97159	0.0:0.0:1.0:0.0	.	.	.	.	X	229;241;165;229;241;229	.	ENSP00000220429:S229X	S	-	2	0	GABPB1	48380289	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.480000	0.81109	2.712000	0.92718	0.650000	0.86243	TCA		0.438	GABPB1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000418294.1			16	42	1	0	1.5739e-10	1	1.76495e-10	16	42				
HIST1H2BD	3017	broad.mit.edu	37	6	26158619	26158619	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr6:26158619C>G	ENST00000289316.2	+	1	246	c.222C>G	c.(220-222)atC>atG	p.I74M	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.I74M	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	74					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						TCGAGCGCATCGCAGGCGAGG	0.602																																						ENST00000289316.2																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						c.(220-222)atC>atG		histone cluster 1, H2bd							151.0	145.0	147.0					6																	26158619		2203	4300	6503	SO:0001583	missense	3017				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26158619C>G	M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"""Histones / Replication-dependent"""	4747	protein-coding gene	gene with protein product		602799	"""H2B histone family, member B"", ""histone 1, H2bd"""	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.222C>G	6.37:g.26158619C>G	ENSP00000289316:p.Ile74Met					HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.I74M	p.I74M	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN			1	246	+			74						Missense_Mutation	SNP	ENST00000289316.2	37	c.222C>G	CCDS4587.1	.	.	.	.	.	.	.	.	.	.	.	15.34	2.803750	0.50315	.	.	ENSG00000158373	ENST00000377777;ENST00000289316	T;T	0.46063	0.88;0.88	5.19	1.39	0.22231	Histone-fold (2);Histone core (1);	0.000000	0.42294	D	0.000730	T	0.53334	0.1790	M	0.90595	3.13	0.36987	D	0.894583	P	0.50066	0.931	P	0.62014	0.897	T	0.60546	-0.7242	10	0.87932	D	0	.	9.0143	0.36159	0.0:0.6741:0.0:0.3259	.	74	P58876	H2B1D_HUMAN	M	74	ENSP00000367008:I74M;ENSP00000289316:I74M	ENSP00000289316:I74M	I	+	3	3	HIST1H2BD	26266598	1.000000	0.71417	0.997000	0.53966	0.290000	0.27261	0.987000	0.29603	0.127000	0.18452	-0.830000	0.03078	ATC		0.602	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040088.1	NM_021063		80	168	0	0	0	1	0	80	168				
BLZF1	8548	broad.mit.edu	37	1	169345966	169345966	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:169345966G>T	ENST00000367808.3	+	3	640	c.217G>T	c.(217-219)Gca>Tca	p.A73S	BLZF1_ENST00000367807.3_Missense_Mutation_p.A73S|BLZF1_ENST00000329281.2_Missense_Mutation_p.A73S			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	73					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|mitotic cell cycle (GO:0000278)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					CACTGAAAAAGCAATGGAAGT	0.398																																						ENST00000367808.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14						c.(217-219)Gca>Tca		basic leucine zipper nuclear factor 1							111.0	121.0	117.0					1																	169345966		2203	4299	6502	SO:0001583	missense	8548				cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr1:169345966G>T	U79751	CCDS1278.1	1q24	2008-08-01	2008-08-01		ENSG00000117475	ENSG00000117475			1065	protein-coding gene	gene with protein product		608692				9129147	Standard	NM_003666		Approved	JEM-1	uc001gfy.3	Q9H2G9	OTTHUMG00000035453	ENST00000367808.3:c.217G>T	1.37:g.169345966G>T	ENSP00000356782:p.Ala73Ser					BLZF1_ENST00000329281.2_Missense_Mutation_p.A73S|BLZF1_ENST00000367807.3_Missense_Mutation_p.A73S	p.A73S			Q9H2G9	GO45_HUMAN			3	640	+	all_hematologic(923;0.208)		73					O15298|Q5T531|Q5T533|Q9GZX4	Missense_Mutation	SNP	ENST00000367808.3	37	c.217G>T	CCDS1278.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.310854	0.40895	.	.	ENSG00000117475	ENST00000367808;ENST00000329281;ENST00000367807;ENST00000420531;ENST00000426663	T;T;T;T;T	0.51071	1.22;1.22;0.72;0.72;1.24	5.4	4.48	0.54585	.	0.208587	0.50627	D	0.000113	T	0.14830	0.0358	L	0.39397	1.21	0.25020	N	0.991347	B;B;B	0.32753	0.074;0.043;0.383	B;B;B	0.30495	0.024;0.024;0.116	T	0.05632	-1.0873	9	0.07175	T	0.84	-38.5153	9.2185	0.37362	0.0791:0.0:0.767:0.1539	.	73;73;73	A8K6R0;Q9H2G9;Q9H2G9-2	.;GO45_HUMAN;.	S	73	ENSP00000356782:A73S;ENSP00000327541:A73S;ENSP00000356781:A73S;ENSP00000414668:A73S;ENSP00000404408:A73S	ENSP00000327541:A73S	A	+	1	0	BLZF1	167612590	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.995000	0.49441	1.254000	0.44035	0.655000	0.94253	GCA		0.398	BLZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086109.1	NM_003666		39	64	1	0	1.47244e-24	1	1.77425e-24	39	64				
COL9A3	1299	broad.mit.edu	37	20	61461171	61461171	+	Splice_Site	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr20:61461171G>A	ENST00000343916.3	+	22	1164	c.1161G>A	c.(1159-1161)gcG>gcA	p.A387A		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	387	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GGGGCTCAGCGGTGAGTGCAG	0.657																																						ENST00000343916.3																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.e22+1		collagen, type IX, alpha 3							22.0	24.0	23.0					20																	61461171		2175	4270	6445	SO:0001630	splice_region_variant	1299				axon guidance	collagen type IX		g.chr20:61461171G>A	AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2219	protein-coding gene	gene with protein product	"""collagen type IX proteoglycan"""	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.1161+1G>A	20.37:g.61461171G>A							p.A387_splice	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN			22	1164	+	Breast(26;5.68e-08)		387			Triple-helical region 3 (COL3).		Q13681|Q9H4G9|Q9UPE2	Splice_Site	SNP	ENST00000343916.3	37	c.1161_splice	CCDS13505.1																																																																																				0.657	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080071.2	NM_001853	Silent	4	5	0	0	0	1	0	4	5				
SLC22A7	10864	broad.mit.edu	37	6	43269338	43269338	+	Silent	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr6:43269338C>T	ENST00000372585.5	+	7	1064	c.969C>T	c.(967-969)gcC>gcT	p.A323A	SLC22A7_ENST00000372589.3_Silent_p.A321A|SLC22A7_ENST00000372574.3_Silent_p.A321A|SLC22A7_ENST00000487175.1_3'UTR	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	323					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GCAAAGTGGCCGCCGGGGAAC	0.582																																						ENST00000372585.5																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26						c.(967-969)gcC>gcT		solute carrier family 22 (organic anion transporter), member 7							67.0	53.0	58.0					6																	43269338		2203	4300	6503	SO:0001819	synonymous_variant	10864					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	g.chr6:43269338C>T	AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"""Solute carriers"""	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.969C>T	6.37:g.43269338C>T						SLC22A7_ENST00000372574.3_Silent_p.A321A|SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372589.3_Silent_p.A321A	p.A323A	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		7	1064	+			323					B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Silent	SNP	ENST00000372585.5	37	c.969C>T	CCDS4893.2																																																																																				0.582	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			11	33	0	0	0	1	0	11	33				
CDK18	5129	broad.mit.edu	37	1	205495568	205495568	+	Silent	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:205495568C>T	ENST00000360066.2	+	7	946	c.645C>T	c.(643-645)ctC>ctT	p.L215L	CDK18_ENST00000506784.1_Silent_p.L245L|CDK18_ENST00000429964.2_Silent_p.L215L|CDK18_ENST00000509056.1_3'UTR	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	213	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						ATCGGTCCCTCACCCTGGTGT	0.592																																					Pancreas(180;489 2072 28461 40831 44265)	ENST00000360066.2																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						c.(643-645)ctC>ctT		cyclin-dependent kinase 18							138.0	116.0	124.0					1																	205495568		2203	4300	6503	SO:0001819	synonymous_variant	5129						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity	g.chr1:205495568C>T	X66362	CCDS1454.1, CCDS44300.1	1q31-q32	2011-11-08	2009-12-16	2009-12-16	ENSG00000117266	ENSG00000117266		"""Cyclin-dependent kinases"""	8751	protein-coding gene	gene with protein product		169190	"""PCTAIRE protein kinase 3"""	PCTK3		1437147, 19884882	Standard	NM_002596		Approved	PCTAIRE3	uc010pri.2	Q07002	OTTHUMG00000037203	ENST00000360066.2:c.645C>T	1.37:g.205495568C>T						CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000429964.2_Silent_p.L215L|CDK18_ENST00000506784.1_Silent_p.L245L	p.L215L	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN			7	946	+			213			Protein kinase.		Q5VXQ2|Q6V3A2|Q6V3A3|Q96F90	Silent	SNP	ENST00000360066.2	37	c.645C>T	CCDS44300.1																																																																																				0.592	CDK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090407.2	NM_002596		40	94	0	0	0	1	0	40	94				
NAPSA	9476	broad.mit.edu	37	19	50861832	50861832	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr19:50861832G>A	ENST00000253719.2	-	9	1449	c.1241C>T	c.(1240-1242)gCg>gTg	p.A414V	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	414					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		CTGCGCCTGCGCAGTCTCTCC	0.662																																						ENST00000253719.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(1240-1242)gCg>gTg		napsin A aspartic peptidase							9.0	11.0	11.0					19																	50861832		2181	4282	6463	SO:0001583	missense	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50861832G>A	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.1241C>T	19.37:g.50861832G>A	ENSP00000253719:p.Ala414Val					NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	p.A414V	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	9	1449	-		all_neural(266;0.057)	414					Q8WWD9	Missense_Mutation	SNP	ENST00000253719.2	37	c.1241C>T	CCDS12794.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354703	0.61293	.	.	ENSG00000131400	ENST00000253719	T	0.54279	0.58	3.38	3.38	0.38709	.	1.104210	0.07073	N	0.835721	T	0.30355	0.0762	N	0.12182	0.205	0.23809	N	0.996782	P	0.46912	0.886	B	0.29524	0.103	T	0.14699	-1.0463	10	0.56958	D	0.05	.	10.9302	0.47213	0.0:0.0:1.0:0.0	.	414	O96009	NAPSA_HUMAN	V	414	ENSP00000253719:A414V	ENSP00000253719:A414V	A	-	2	0	NAPSA	55553644	0.079000	0.21365	0.729000	0.30791	0.103000	0.19146	-0.270000	0.08584	1.815000	0.52974	0.467000	0.42956	GCG		0.662	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		10	21	0	0	0	1	0	10	21				
MRC2	9902	broad.mit.edu	37	17	60766302	60766302	+	Silent	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:60766302C>T	ENST00000303375.5	+	23	3717	c.3315C>T	c.(3313-3315)ttC>ttT	p.F1105F	MRC2_ENST00000446119.2_Missense_Mutation_p.S51L|MRC2_ENST00000580916.1_3'UTR	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1105	C-type lectin 6. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCCATGGCTTCATCTGCCAGA	0.657																																						ENST00000446119.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						c.(151-153)tCa>tTa		mannose receptor, C type 2							48.0	40.0	43.0					17																	60766302		2203	4300	6503	SO:0001819	synonymous_variant	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60766302C>T	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.3315C>T	17.37:g.60766302C>T						MRC2_ENST00000303375.5_Silent_p.F1105F|MRC2_ENST00000580916.1_3'UTR	p.S51L			Q9UBG0	MRC2_HUMAN			5	1171	+			1185			Ricin B-type lectin.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	c.152C>T	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508298	0.44660	.	.	ENSG00000011028	ENST00000446119	T	0.02787	4.16	4.73	4.73	0.59995	.	.	.	.	.	T	0.02888	0.0086	.	.	.	0.21256	N	0.999749	B	0.19200	0.034	B	0.13407	0.009	T	0.34825	-0.9813	8	0.51188	T	0.08	-27.6994	9.7435	0.40433	0.0:0.8401:0.0:0.1599	.	51	E7EME3	.	L	51	ENSP00000400445:S51L	ENSP00000400445:S51L	S	+	2	0	MRC2	58120034	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	1.780000	0.38634	2.444000	0.82710	0.561000	0.74099	TCA		0.657	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			11	22	0	0	0	1	0	11	22				
CPAMD8	27151	broad.mit.edu	37	19	17017783	17017783	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr19:17017783G>A	ENST00000443236.1	-	30	4178	c.4147C>T	c.(4147-4149)Cgt>Tgt	p.R1383C	RN7SL835P_ENST00000579920.1_RNA	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1336						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCCAGGCTACGGAGCTTGCGC	0.637																																						ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(4147-4149)Cgt>Tgt		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							17.0	22.0	20.0					19																	17017783		2099	4213	6312	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17017783G>A	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.4147C>T	19.37:g.17017783G>A	ENSP00000402505:p.Arg1383Cys						p.R1383C	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			30	4178	-			1336					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.4147C>T	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659199	0.47467	.	.	ENSG00000160111	ENST00000291440	.	.	.	3.09	0.639	0.17747	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.289424	0.30781	U	0.008900	T	0.54287	0.1849	L	0.58510	1.815	0.80722	D	1	D	0.64830	0.994	P	0.56612	0.802	T	0.51772	-0.8663	9	0.52906	T	0.07	.	4.4618	0.11669	0.1457:0.0:0.3174:0.5369	.	1336	Q8IZJ3	CPMD8_HUMAN	C	1383	.	ENSP00000291440:R1383C	R	-	1	0	CPAMD8	16878783	1.000000	0.71417	0.965000	0.40720	0.238000	0.25445	3.090000	0.50191	0.321000	0.23259	0.549000	0.68633	CGT		0.637	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		6	10	0	0	0	1	0	6	10				
TTC16	158248	broad.mit.edu	37	9	130479621	130479621	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr9:130479621G>C	ENST00000373289.3	+	3	280	c.200G>C	c.(199-201)aGa>aCa	p.R67T	PTRH1_ENST00000543175.1_5'Flank|TTC16_ENST00000393748.4_5'UTR|PTRH1_ENST00000419060.1_Intron|PTRH1_ENST00000423807.1_5'Flank|PTRH1_ENST00000429848.1_Intron	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	67										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						AGCTACTCCAGAGGCCAGCAG	0.657																																						ENST00000373289.3																			0				central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						c.(199-201)aGa>aCa		tetratricopeptide repeat domain 16							36.0	32.0	34.0					9																	130479621		2203	4300	6503	SO:0001583	missense	158248						binding	g.chr9:130479621G>C	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"""Tetratricopeptide (TTC) repeat domain containing"""	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.200G>C	9.37:g.130479621G>C	ENSP00000362386:p.Arg67Thr					TTC16_ENST00000393748.4_5'UTR|PTRH1_ENST00000419060.1_Intron|PTRH1_ENST00000429848.1_Intron	p.R67T	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN			3	280	+			67					B4DYG4|B5ME24|Q5JU66|Q96M72	Missense_Mutation	SNP	ENST00000373289.3	37	c.200G>C	CCDS6875.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.278563	0.40294	.	.	ENSG00000167094	ENST00000373289;ENST00000316259	T	0.61158	0.13	4.97	-4.21	0.03812	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.899898	0.09164	N	0.839790	T	0.58708	0.2141	M	0.67700	2.07	0.09310	N	0.999996	P;B;P	0.43231	0.801;0.425;0.801	P;B;B	0.49012	0.598;0.182;0.412	T	0.58115	-0.7693	10	0.66056	D	0.02	0.0891	6.9258	0.24414	0.6949:0.0:0.1668:0.1384	.	67;67;67	B4DZ42;B4DH05;Q8NEE8	.;.;TTC16_HUMAN	T	67;60	ENSP00000362386:R67T	ENSP00000319048:R60T	R	+	2	0	TTC16	129519442	0.013000	0.17824	0.000000	0.03702	0.009000	0.06853	0.148000	0.16224	-1.027000	0.03325	-0.497000	0.04613	AGA		0.657	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		7	26	0	0	0	1	0	7	26				
DAXX	1616	broad.mit.edu	37	6	33287306	33287306	+	Silent	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr6:33287306G>A	ENST00000374542.5	-	6	1995	c.1791C>T	c.(1789-1791)ttC>ttT	p.F597F	DAXX_ENST00000477162.1_5'Flank|ZBTB22_ENST00000418724.1_5'Flank|DAXX_ENST00000414083.2_Silent_p.F522F|DAXX_ENST00000266000.6_Silent_p.F597F|ZBTB22_ENST00000431845.2_5'Flank	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	597	Interaction with MAP3K5.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						AGACAGTGGTGAAGGGCTCCT	0.522			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																	ENST00000374542.5				Rec	yes		6	6p21.3	1616	"""Mis, F, N"""	death-domain associated protein			E			Pancreatic neuroendocrine tumors. Paediatric GBM		0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						c.(1789-1791)ttC>ttT		death-domain associated protein							80.0	84.0	83.0					6																	33287306		2203	4300	6503	SO:0001819	synonymous_variant	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33287306G>A	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1791C>T	6.37:g.33287306G>A						DAXX_ENST00000266000.6_Silent_p.F597F|DAXX_ENST00000414083.2_Silent_p.F522F	p.F597F	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN			6	1995	-			597			Interaction with MAP3K5.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Silent	SNP	ENST00000374542.5	37	c.1791C>T	CCDS4776.1																																																																																				0.522	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			42	75	0	0	0	1	0	42	75				
IGHV2-5	28457	broad.mit.edu	37	14	106494257	106494257	+	RNA	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr14:106494257G>A	ENST00000390597.2	-	0	254									immunoglobulin heavy variable 2-5																		GGGCTGTAGCGCTTATCATCA	0.542																																						ENST00000390597.2																			0																				116.0	106.0	109.0					14																	106494257		2013	4161	6174			28457							g.chr14:106494257G>A	X62111		14q32.33	2012-02-08			ENSG00000211937	ENSG00000211937		"""Immunoglobulins / IGH locus"""	5576	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152287		14.37:g.106494257G>A														0	254	-									RNA	SNP	ENST00000390597.2	37																																																																																						0.542	IGHV2-5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325675.1	NG_001019		26	69	0	0	0	1	0	26	69				
GORAB	92344	broad.mit.edu	37	1	170508704	170508704	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:170508704G>A	ENST00000367763.3	+	2	510	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	GORAB_ENST00000465717.1_3'UTR|GORAB_ENST00000367762.1_Missense_Mutation_p.E164K	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	164						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						AAAGAAAGTGGAATTGTTAGT	0.353																																						ENST00000367763.3																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(490-492)Gaa>Aaa		golgin, RAB6-interacting							51.0	52.0	52.0					1																	170508704		2203	4300	6503	SO:0001583	missense	92344					Golgi apparatus|nucleus		g.chr1:170508704G>A	AK021814	CCDS1289.1, CCDS53428.1	1q24.2	2009-02-13	2009-02-13	2009-02-13	ENSG00000120370	ENSG00000120370			25676	protein-coding gene	gene with protein product	"""gerodermia osteodysplastica"""	607983	"""SCY1-like 1 binding protein 1"""	SCYL1BP1		12783284, 15781263, 18997784	Standard	NM_152281		Approved	FLJ11752, NTKL-BP1, GO	uc001gha.2	Q5T7V8	OTTHUMG00000035228	ENST00000367763.3:c.490G>A	1.37:g.170508704G>A	ENSP00000356737:p.Glu164Lys					GORAB_ENST00000367762.1_Missense_Mutation_p.E164K|GORAB_ENST00000465717.1_3'UTR	p.E164K	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN			2	510	+			164					Q49A22|Q6P1P9|Q9HAE6|Q9Y350	Missense_Mutation	SNP	ENST00000367763.3	37	c.490G>A	CCDS1289.1	.	.	.	.	.	.	.	.	.	.	G	31	5.095067	0.94197	.	.	ENSG00000120370	ENST00000367763;ENST00000367762	T;T	0.63913	-0.07;-0.07	5.51	5.51	0.81932	.	0.089980	0.85682	D	0.000000	T	0.75250	0.3824	M	0.73962	2.25	0.54753	D	0.999988	D	0.76494	0.999	D	0.69479	0.964	T	0.76000	-0.3119	10	0.52906	T	0.07	-14.9002	19.0152	0.92890	0.0:0.0:1.0:0.0	.	164	Q5T7V8	GORAB_HUMAN	K	164	ENSP00000356737:E164K;ENSP00000356736:E164K	ENSP00000356736:E164K	E	+	1	0	GORAB	168775328	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.809000	0.86057	2.577000	0.86979	0.585000	0.79938	GAA		0.353	GORAB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085226.1	NM_152281		13	35	0	0	0	1	0	13	35				
DSG4	147409	broad.mit.edu	37	18	28980884	28980884	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr18:28980884G>C	ENST00000308128.4	+	10	1453	c.1318G>C	c.(1318-1320)Gat>Cat	p.D440H	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.D440H|RP11-534N16.1_ENST00000578477.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	440	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GTTAAAAATTGATTCAAGAAC	0.308																																						ENST00000359747.4																			0				NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(1318-1320)Gat>Cat		desmoglein 4							56.0	61.0	59.0					18																	28980884		2200	4287	6487	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28980884G>C	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.1318G>C	18.37:g.28980884G>C	ENSP00000311859:p.Asp440His					RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.D440H|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	p.D440H	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		10	1347	+			440			Cadherin 4.		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.1318G>C	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004354	0.54254	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.65732	-0.17;-0.17	5.42	3.61	0.41365	Cadherin (4);Cadherin-like (1);	0.458525	0.16194	N	0.225233	T	0.75547	0.3864	M	0.78801	2.425	0.43808	D	0.996362	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.72924	-0.4144	10	0.56958	D	0.05	.	6.4482	0.21887	0.1968:0.1495:0.6537:0.0	.	440;440	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	H	440	ENSP00000311859:D440H;ENSP00000352785:D440H	ENSP00000311859:D440H	D	+	1	0	DSG4	27234882	1.000000	0.71417	0.995000	0.50966	0.895000	0.52256	3.472000	0.53114	0.754000	0.32968	-0.282000	0.10007	GAT		0.308	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		23	42	0	0	0	1	0	23	42				
ZNF615	284370	broad.mit.edu	37	19	52497170	52497170	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr19:52497170G>C	ENST00000602063.1	-	6	1508	c.1159C>G	c.(1159-1161)Ctt>Gtt	p.L387V	ZNF615_ENST00000598071.1_Missense_Mutation_p.L398V|ZNF615_ENST00000391795.3_Missense_Mutation_p.L392V|ZNF615_ENST00000594083.1_Missense_Mutation_p.L398V|ZNF615_ENST00000376716.5_Missense_Mutation_p.L387V			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	387					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGTGTGATAAGACTGTTCTTC	0.398																																						ENST00000602063.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42						c.(1159-1161)Ctt>Gtt		zinc finger protein 615							96.0	90.0	92.0					19																	52497170		2203	4300	6503	SO:0001583	missense	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52497170G>C	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1159C>G	19.37:g.52497170G>C	ENSP00000473089:p.Leu387Val					ZNF615_ENST00000391795.3_Missense_Mutation_p.L392V|ZNF615_ENST00000594083.1_Missense_Mutation_p.L398V|ZNF615_ENST00000598071.1_Missense_Mutation_p.L398V|ZNF615_ENST00000376716.5_Missense_Mutation_p.L387V	p.L387V			Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	1508	-		all_neural(266;0.117)	387					B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	c.1159C>G	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.537571	0.45176	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.52983	0.64;0.64	3.26	3.26	0.37387	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.72399	0.3455	M	0.89095	3.005	0.31073	N	0.712825	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;0.999	T	0.76119	-0.3076	9	0.87932	D	0	.	13.7922	0.63148	0.0:0.0:1.0:0.0	.	392;394;398;387	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	V	387;397;392;397	ENSP00000365906:L387V;ENSP00000375672:L392V	ENSP00000347019:L397V	L	-	1	0	ZNF615	57188982	0.285000	0.24296	0.284000	0.24805	0.778000	0.44026	2.867000	0.48428	1.797000	0.52628	0.650000	0.86243	CTT		0.398	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		16	45	0	0	0	1	0	16	45				
GPR112	139378	broad.mit.edu	37	X	135431791	135431791	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chrX:135431791G>T	ENST00000394143.1	+	6	6217	c.5926G>T	c.(5926-5928)Gag>Tag	p.E1976*	GPR112_ENST00000394141.1_Nonsense_Mutation_p.E1771*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.E1913*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.E1771*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.E1976*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1976					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GCACACATTTGAGAAAATGAC	0.428																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(5926-5928)Gag>Tag		G protein-coupled receptor 112							103.0	96.0	98.0					X																	135431791		2203	4299	6502	SO:0001587	stop_gained	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135431791G>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.5926G>T	X.37:g.135431791G>T	ENSP00000377699:p.Glu1976*					GPR112_ENST00000287534.4_Nonsense_Mutation_p.E1913*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.E1771*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.E1771*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.E1976*	p.E1976*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	6217	+	Acute lymphoblastic leukemia(192;0.000127)		1976					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Nonsense_Mutation	SNP	ENST00000394143.1	37	c.5926G>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	g	45	11.832323	0.99608	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	.	.	.	3.57	1.53	0.23141	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	5.0808	0.14655	0.0:0.232:0.5265:0.2415	.	.	.	.	X	1976;1976;1771;1913;1771	.	ENSP00000287534:E1913X	E	+	1	0	GPR112	135259457	1.000000	0.71417	0.187000	0.23214	0.262000	0.26303	1.470000	0.35354	0.670000	0.31165	-0.268000	0.10319	GAG		0.428	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			41	16	1	0	3.09479e-21	1	3.68337e-21	41	16				
SH2D5	400745	broad.mit.edu	37	1	21048305	21048305	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:21048305C>T	ENST00000444387.2	-	10	1649	c.1252G>A	c.(1252-1254)Gag>Aag	p.E418K	SH2D5_ENST00000460804.1_5'UTR|SH2D5_ENST00000375031.1_Missense_Mutation_p.E334K	NM_001103161.1	NP_001096631.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	418										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCCTGCAGCTCTGCCTCGGAC	0.731																																						ENST00000375031.1																			0				lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6						c.(1000-1002)Gag>Aag		SH2 domain containing 5							8.0	11.0	10.0					1																	21048305		1829	4062	5891	SO:0001583	missense	400745							g.chr1:21048305C>T	AK124869, AK123236	CCDS41280.1, CCDS44080.1	1p36.12	2008-02-05			ENSG00000189410	ENSG00000189410			28819	protein-coding gene	gene with protein product							Standard	NM_001103161		Approved		uc009vpy.1	Q6ZV89	OTTHUMG00000002620	ENST00000444387.2:c.1252G>A	1.37:g.21048305C>T	ENSP00000406026:p.Glu418Lys					SH2D5_ENST00000460804.1_5'UTR|SH2D5_ENST00000444387.2_Missense_Mutation_p.E418K	p.E334K	NM_001103160.1	NP_001096630.1	Q6ZV89	SH2D5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	9	1624	-		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	334					B7Z3W3|Q5SSJ2	Missense_Mutation	SNP	ENST00000444387.2	37	c.1000G>A	CCDS44080.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.194308	0.78902	.	.	ENSG00000189410	ENST00000375031;ENST00000444387	.	.	.	5.01	4.03	0.46877	.	0.471757	0.18743	N	0.132388	T	0.28134	0.0694	N	0.19112	0.55	0.24134	N	0.995757	B	0.20671	0.047	B	0.19946	0.027	T	0.19289	-1.0310	9	0.66056	D	0.02	.	10.019	0.42031	0.0:0.7565:0.155:0.0885	.	418	Q6ZV89	SH2D5_HUMAN	K	334;418	.	ENSP00000364171:E334K	E	-	1	0	SH2D5	20920892	0.391000	0.25221	1.000000	0.80357	0.946000	0.59487	2.119000	0.41958	2.330000	0.79161	0.563000	0.77884	GAG		0.731	SH2D5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007455.2	XM_375698		4	9	0	0	0	1	0	4	9				
USP11	8237	broad.mit.edu	37	X	47104856	47104856	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chrX:47104856G>A	ENST00000218348.3	+	17	2374	c.2374G>A	c.(2374-2376)Gag>Aag	p.E792K	USP11_ENST00000377107.2_Missense_Mutation_p.E749K	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	792	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CACCACTGTGGAGACCCTGGA	0.532																																						ENST00000377107.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						c.(2245-2247)Gag>Aag		ubiquitin specific peptidase 11							48.0	40.0	43.0					X																	47104856		2203	4300	6503	SO:0001583	missense	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47104856G>A	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.2374G>A	X.37:g.47104856G>A	ENSP00000218348:p.Glu792Lys					USP11_ENST00000218348.3_Missense_Mutation_p.E792K	p.E749K			P51784	UBP11_HUMAN			17	2599	+			792					B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	c.2245G>A	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	G	35	5.518060	0.96416	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.44881	0.91;0.91	5.08	5.08	0.68730	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.124431	0.52532	D	0.000070	T	0.71264	0.3319	M	0.90082	3.085	0.54753	D	0.999988	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.993	T	0.78974	-0.1992	10	0.87932	D	0	-25.3418	16.3454	0.83126	0.0:0.0:1.0:0.0	.	518;792	B3KP28;P51784	.;UBP11_HUMAN	K	749;792	ENSP00000366311:E749K;ENSP00000218348:E792K	ENSP00000218348:E792K	E	+	1	0	USP11	46989800	1.000000	0.71417	0.743000	0.31040	0.996000	0.88848	9.515000	0.98015	2.113000	0.64589	0.436000	0.28706	GAG		0.532	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		9	16	0	0	0	1	0	9	16				
DYNC2H1	79659	broad.mit.edu	37	11	103128364	103128364	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr11:103128364G>A	ENST00000375735.2	+	69	10633	c.10489G>A	c.(10489-10491)Gag>Aag	p.E3497K	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.E3504K	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3497					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CCCCCTGGCTGAGAGTGCCAG	0.438																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(10489-10491)Gag>Aag		dynein, cytoplasmic 2, heavy chain 1							131.0	122.0	125.0					11																	103128364		1878	4110	5988	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103128364G>A	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.10489G>A	11.37:g.103128364G>A	ENSP00000364887:p.Glu3497Lys					DYNC2H1_ENST00000398093.3_Missense_Mutation_p.E3504K|DYNC2H1_ENST00000334267.7_Intron	p.E3497K	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	69	10633	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	3497					O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.10489G>A	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384629	0.61845	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.53857	0.6;0.6	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.48114	0.1482	L	0.52573	1.65	0.80722	D	1	B;B	0.32425	0.129;0.371	B;B	0.32149	0.046;0.141	T	0.44390	-0.9331	10	0.07030	T	0.85	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	3497;3504	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	K	3497;3504	ENSP00000364887:E3497K;ENSP00000381167:E3504K	ENSP00000364887:E3497K	E	+	1	0	DYNC2H1	102633574	1.000000	0.71417	1.000000	0.80357	0.305000	0.27757	8.031000	0.88826	2.882000	0.98803	0.655000	0.94253	GAG		0.438	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		9	25	0	0	0	1	0	9	25				
LRIG3	121227	broad.mit.edu	37	12	59282176	59282176	+	Silent	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr12:59282176G>A	ENST00000320743.3	-	7	1168	c.882C>T	c.(880-882)ctC>ctT	p.L294L	LRIG3_ENST00000379141.4_Silent_p.L234L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	294					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CATTTTGGCTGAGATGAAGTT	0.463			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(880-882)ctC>ctT		leucine-rich repeats and immunoglobulin-like domains 3							121.0	106.0	112.0					12																	59282176		2203	4300	6503	SO:0001819	synonymous_variant	121227					integral to membrane		g.chr12:59282176G>A	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.882C>T	12.37:g.59282176G>A						LRIG3_ENST00000379141.4_Silent_p.L234L	p.L294L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		7	1168	-			294					Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	37	c.882C>T	CCDS8960.1																																																																																				0.463	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		16	43	0	0	0	1	0	16	43				
FAM47A	158724	broad.mit.edu	37	X	34149314	34149314	+	Missense_Mutation	SNP	C	C	T	rs374052739		TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chrX:34149314C>T	ENST00000346193.3	-	1	1133	c.1082G>A	c.(1081-1083)cGt>cAt	p.R361H		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	361								p.R361H(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TAGGCGGAGACGGGACACTCC	0.647																																						ENST00000346193.3																			1	Substitution - Missense(1)	p.R361H(1)	urinary_tract(1)	NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(1081-1083)cGt>cAt		family with sequence similarity 47, member A		T	HIS/ARG	2,3823		0,2,0,1625,571	29.0	31.0	30.0		1082	0.2	0.0	X		30	1,6723		0,0,1,2427,1869	no	missense	FAM47A	NM_203408.3	29	0,2,1,4052,2440	TT,TC,T,CC,C		0.0149,0.0523,0.0284	benign	361/792	34149314	3,10546	2198	4297	6495	SO:0001583	missense	158724							g.chrX:34149314C>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1082G>A	X.37:g.34149314C>T	ENSP00000345029:p.Arg361His						p.R361H	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	1133	-			361					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.1082G>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	c	0.009	-1.829422	0.00584	5.23E-4	1.49E-4	ENSG00000185448	ENST00000346193	T	0.09538	2.97	0.226	0.226	0.15353	.	.	.	.	.	T	0.02083	0.0065	N	0.00230	-1.795	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42103	-0.9471	8	0.38643	T	0.18	.	.	.	.	.	361	Q5JRC9	FA47A_HUMAN	H	361	ENSP00000345029:R361H	ENSP00000345029:R361H	R	-	2	0	FAM47A	34059235	0.024000	0.19004	0.006000	0.13384	0.006000	0.05464	-1.385000	0.02540	-0.914000	0.03827	-0.947000	0.02670	CGT		0.647	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		26	19	0	0	0	1	0	26	19				
ZNF280A	129025	broad.mit.edu	37	22	22868570	22868570	+	Missense_Mutation	SNP	G	G	C	rs201466267		TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr22:22868570G>C	ENST00000302097.3	-	2	1637	c.1385C>G	c.(1384-1386)aCg>aGg	p.T462R		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	462					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.T462M(1)		endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CTCCTTCAACGTCAAAAACTG	0.423																																						ENST00000302097.3																			1	Substitution - Missense(1)	p.T462M(1)	lung(1)	endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18						c.(1384-1386)aCg>aGg		zinc finger protein 280A							105.0	101.0	102.0					22																	22868570		2203	4300	6503	SO:0001583	missense	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22868570G>C	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.1385C>G	22.37:g.22868570G>C	ENSP00000302855:p.Thr462Arg						p.T462R	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	1637	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	462						Missense_Mutation	SNP	ENST00000302097.3	37	c.1385C>G	CCDS13800.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.006532	0.35415	.	.	ENSG00000169548	ENST00000302097	T	0.60040	0.22	3.76	-0.723	0.11181	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.67785	0.2930	M	0.69523	2.12	0.09310	N	0.999996	D	0.71674	0.998	D	0.64237	0.923	T	0.57757	-0.7756	9	0.44086	T	0.13	0.014	8.7628	0.34685	0.0:0.4063:0.4432:0.1505	.	462	P59817	Z280A_HUMAN	R	462	ENSP00000302855:T462R	ENSP00000302855:T462R	T	-	2	0	ZNF280A	21198570	0.117000	0.22190	0.004000	0.12327	0.528000	0.34623	1.130000	0.31393	-0.005000	0.14395	0.655000	0.94253	ACG		0.423	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		35	27	0	0	0	1	0	35	27				
ADCY2	108	broad.mit.edu	37	5	7717315	7717315	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr5:7717315G>T	ENST00000338316.4	+	12	1757	c.1668G>T	c.(1666-1668)agG>agT	p.R556S	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.R376S	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	556					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TGAATGAAAGGATGATTCAAG	0.269																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(1666-1668)agG>agT		adenylate cyclase 2 (brain)							105.0	113.0	111.0					5																	7717315		2203	4297	6500	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7717315G>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1668G>T	5.37:g.7717315G>T	ENSP00000342952:p.Arg556Ser					ADCY2_ENST00000537121.1_Missense_Mutation_p.R376S|RP11-711G10.1_ENST00000514105.2_RNA	p.R556S	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			12	1757	+			556					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.1668G>T	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819002	0.50633	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;T	0.77750	-1.12;-1.12	6.08	3.37	0.38596	.	0.000000	0.85682	D	0.000000	T	0.74405	0.3712	L	0.50333	1.59	0.44388	D	0.997296	B;B	0.32862	0.387;0.082	B;B	0.39771	0.309;0.105	T	0.69573	-0.5109	10	0.42905	T	0.14	.	11.2342	0.48931	0.1958:0.0:0.8042:0.0	.	376;556	B7Z2C1;Q08462	.;ADCY2_HUMAN	S	556;389;376	ENSP00000342952:R556S;ENSP00000444803:R376S	ENSP00000342952:R556S	R	+	3	2	ADCY2	7770315	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.407000	0.34657	0.468000	0.27243	0.655000	0.94253	AGG		0.269	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		13	44	1	0	3.27435e-08	1	3.58884e-08	13	44				
FAT1	2195	broad.mit.edu	37	4	187542225	187542225	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr4:187542225C>A	ENST00000441802.2	-	10	5724	c.5515G>T	c.(5515-5517)Gaa>Taa	p.E1839*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1839	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATACTTGTTTCTTCATAGTCC	0.373										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(5515-5517)Gaa>Taa		FAT atypical cadherin 1							66.0	68.0	67.0					4																	187542225		1925	4143	6068	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187542225C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.5515G>T	4.37:g.187542225C>A	ENSP00000406229:p.Glu1839*	HNSCC(5;0.00058)					p.E1839*	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	5724	-			1839			Cadherin 16.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.5515G>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	44	10.656623	0.99445	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.4	4.56	0.56223	.	0.105526	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	14.8545	0.70326	0.0:0.7279:0.2721:0.0	.	.	.	.	X	1839;1841	.	ENSP00000260147:E1841X	E	-	1	0	FAT1	187779219	1.000000	0.71417	1.000000	0.80357	0.330000	0.28571	1.973000	0.40550	1.506000	0.48736	0.655000	0.94253	GAA		0.373	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		12	11	1	0	2.27111e-07	1	2.44775e-07	12	11				
HIST3H2BB	128312	broad.mit.edu	37	1	228645991	228645991	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:228645991G>A	ENST00000369160.2	+	1	184	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST3H2A_ENST00000366695.2_5'Flank	NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	54					chromatin organization (GO:0006325)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G54D(2)		skin(1)	1		Prostate(94;0.183)				CCCGACACCGGCATCTCGTCC	0.587																																						ENST00000369160.2																			2	Substitution - Missense(2)	p.G54D(2)	urinary_tract(1)|lung(1)	skin(1)	1						c.(160-162)gGc>gAc		histone cluster 3, H2bb							97.0	95.0	96.0					1																	228645991		2202	4278	6480	SO:0001583	missense	128312				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:228645991G>A	AY131981	CCDS1574.1	1q42.13	2011-01-27	2006-10-11		ENSG00000196890	ENSG00000196890		"""Histones / Replication-dependent"""	20514	protein-coding gene	gene with protein product		615046	"""histone 3, H2bb"""			12408966	Standard	NM_175055		Approved		uc001hsz.3	Q8N257	OTTHUMG00000040045	ENST00000369160.2:c.161G>A	1.37:g.228645991G>A	ENSP00000375736:p.Gly54Asp						p.G54D	NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN			1	184	+		Prostate(94;0.183)	54					A4FU05|Q3ZCP6|Q5TA30	Missense_Mutation	SNP	ENST00000369160.2	37	c.161G>A	CCDS1574.1	.	.	.	.	.	.	.	.	.	.	.	22.0	4.229642	0.79688	.	.	ENSG00000196890	ENST00000369160	T	0.69435	-0.4	3.94	3.94	0.45596	Histone-fold (2);Histone core (1);	0.000000	0.46758	D	0.000262	D	0.87861	0.6284	H	0.98542	4.26	0.58432	D	0.999999	D	0.58970	0.984	D	0.68483	0.958	D	0.92053	0.5650	10	0.87932	D	0	.	14.354	0.66724	0.0:0.0:1.0:0.0	.	54	Q8N257	H2B3B_HUMAN	D	54	ENSP00000375736:G54D	ENSP00000375736:G54D	G	+	2	0	HIST3H2BB	226712614	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.022000	0.76431	2.491000	0.84063	0.586000	0.80456	GGC		0.587	HIST3H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096597.1	NM_175055		5	214	0	0	0	1	0	5	214				
TECTA	7007	broad.mit.edu	37	11	120980009	120980009	+	Silent	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr11:120980009C>T	ENST00000392793.1	+	4	559	c.288C>T	c.(286-288)gtC>gtT	p.V96V	TECTA_ENST00000264037.2_Silent_p.V96V			O75443	TECTA_HUMAN	tectorin alpha	96					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAGCCTTCGTCGCCCCATTTT	0.488																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(286-288)gtC>gtT		tectorin alpha							94.0	85.0	88.0					11																	120980009		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120980009C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.288C>T	11.37:g.120980009C>T						TECTA_ENST00000264037.2_Silent_p.V96V	p.V96V			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	4	559	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	96						Silent	SNP	ENST00000392793.1	37	c.288C>T	CCDS8434.1																																																																																				0.488	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		9	35	0	0	0	1	0	9	35				
MFAP1	4236	broad.mit.edu	37	15	44106836	44106836	+	Missense_Mutation	SNP	T	T	G			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr15:44106836T>G	ENST00000267812.3	-	4	712	c.480A>C	c.(478-480)aaA>aaC	p.K160N		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	160					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		TCTCTTCATTTTTTCTCTCCT	0.458																																						ENST00000267812.3																			0				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15						c.(478-480)aaA>aaC		microfibrillar-associated protein 1							191.0	183.0	186.0					15																	44106836		2198	4298	6496	SO:0001583	missense	4236					microfibril		g.chr15:44106836T>G		CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.480A>C	15.37:g.44106836T>G	ENSP00000267812:p.Lys160Asn						p.K160N	NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN		GBM - Glioblastoma multiforme(94;4.33e-07)	4	712	-		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	160					Q86TG6	Missense_Mutation	SNP	ENST00000267812.3	37	c.480A>C	CCDS10105.1	.	.	.	.	.	.	.	.	.	.	T	17.41	3.382933	0.61845	.	.	ENSG00000140259	ENST00000267812	.	.	.	5.74	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.76564	0.4005	M	0.80183	2.485	0.80722	D	1	D	0.57899	0.981	D	0.67231	0.95	T	0.76969	-0.2762	9	0.41790	T	0.15	-32.4206	11.2118	0.48804	0.0:0.0724:0.0:0.9276	.	160	P55081	MFAP1_HUMAN	N	160	.	ENSP00000267812:K160N	K	-	3	2	MFAP1	41894128	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.888000	0.39708	2.317000	0.78254	0.460000	0.39030	AAA		0.458	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133491.2	NM_005926		63	59	0	0	0	1	0	63	59				
TIMD4	91937	broad.mit.edu	37	5	156381740	156381740	+	Missense_Mutation	SNP	G	G	A	rs375659101		TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr5:156381740G>A	ENST00000274532.2	-	2	142	c.86C>T	c.(85-87)aCg>aTg	p.T29M	TIMD4_ENST00000407087.3_Missense_Mutation_p.T29M	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	29	Ig-like V-type.					integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAAAACCTCCGTCACAACAGT	0.493																																						ENST00000274532.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37						c.(85-87)aCg>aTg		T-cell immunoglobulin and mucin domain containing 4		G	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	52.0	57.0	55.0		86,86	-11.1	0.0	5		55	0,8600		0,0,4300	no	missense,missense	TIMD4	NM_001146726.1,NM_138379.2	81,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	29/351,29/379	156381740	1,13005	2203	4300	6503	SO:0001583	missense	91937					integral to membrane		g.chr5:156381740G>A	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.86C>T	5.37:g.156381740G>A	ENSP00000274532:p.Thr29Met					TIMD4_ENST00000407087.3_Missense_Mutation_p.T29M	p.T29M	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	142	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	29			Ig-like V-type.		B5MCL9	Missense_Mutation	SNP	ENST00000274532.2	37	c.86C>T	CCDS4332.1	.	.	.	.	.	.	.	.	.	.	g	10.25	1.299374	0.23650	2.27E-4	0.0	ENSG00000145850	ENST00000274532;ENST00000407087	T;T	0.68479	-0.33;-0.33	5.54	-11.1	0.00147	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.819375	0.10820	N	0.630592	T	0.34774	0.0909	L	0.31578	0.945	0.09310	N	1	P;P	0.34934	0.476;0.476	B;B	0.27887	0.084;0.084	T	0.09079	-1.0691	10	0.33940	T	0.23	-0.024	0.7109	0.00924	0.2288:0.2374:0.1551:0.3787	.	29;29	B5MCL9;Q96H15	.;TIMD4_HUMAN	M	29	ENSP00000274532:T29M;ENSP00000385973:T29M	ENSP00000274532:T29M	T	-	2	0	TIMD4	156314318	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.893000	0.04127	-2.665000	0.00417	-0.794000	0.03295	ACG		0.493	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		13	37	0	0	0	1	0	13	37				
SRF	6722	broad.mit.edu	37	6	43143452	43143452	+	Silent	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr6:43143452G>A	ENST00000265354.4	+	3	1147	c.789G>A	c.(787-789)ctG>ctA	p.L263L	SRF_ENST00000457278.2_Silent_p.L59L	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	263					angiogenesis involved in wound healing (GO:0060055)|associative learning (GO:0008306)|cardiac myofibril assembly (GO:0055003)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular senescence (GO:0090398)|contractile actin filament bundle assembly (GO:0030038)|developmental growth (GO:0048589)|dorsal aorta morphogenesis (GO:0035912)|epithelial cell-cell adhesion (GO:0090136)|epithelial structure maintenance (GO:0010669)|erythrocyte development (GO:0048821)|eyelid development in camera-type eye (GO:0061029)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|hematopoietic stem cell differentiation (GO:0060218)|hippocampus development (GO:0021766)|long term synaptic depression (GO:0060292)|long-term memory (GO:0007616)|megakaryocyte development (GO:0035855)|mesoderm formation (GO:0001707)|morphogenesis of an epithelial sheet (GO:0002011)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet formation (GO:0030220)|positive regulation of cell differentiation (GO:0045597)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription by glucose (GO:0046016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive thymic T cell selection (GO:0045059)|primitive streak formation (GO:0090009)|regulation of cell adhesion (GO:0030155)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of water loss via skin (GO:0033561)|response to cytokine (GO:0034097)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|sarcomere organization (GO:0045214)|skin morphogenesis (GO:0043589)|stress fiber assembly (GO:0043149)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|tight junction assembly (GO:0070830)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			AGGACACACTGAAGCCGGCGT	0.547																																						ENST00000265354.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12						c.(787-789)ctG>ctA		serum response factor (c-fos serum response element-binding transcription factor)							138.0	134.0	136.0					6																	43143452		2203	4300	6503	SO:0001819	synonymous_variant	6722				angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding	g.chr6:43143452G>A	J03161	CCDS4889.1	6p	2008-02-05			ENSG00000112658	ENSG00000112658			11291	protein-coding gene	gene with protein product		600589				3203386	Standard	NM_003131		Approved	MCM1	uc003oui.3	P11831	OTTHUMG00000014722	ENST00000265354.4:c.789G>A	6.37:g.43143452G>A						SRF_ENST00000457278.2_Silent_p.L59L	p.L263L	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		3	1147	+			263					Q5T648	Silent	SNP	ENST00000265354.4	37	c.789G>A	CCDS4889.1																																																																																				0.547	SRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040581.1	NM_003131		51	123	0	0	0	1	0	51	123				
LRP1	4035	broad.mit.edu	37	12	57550690	57550690	+	Silent	SNP	G	G	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr12:57550690G>C	ENST00000243077.3	+	10	2014	c.1548G>C	c.(1546-1548)ggG>ggC	p.G516G		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	516	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCAGTGACGGGAAGTCATGCA	0.657																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(1546-1548)ggG>ggC		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						34.0	33.0	33.0					12																	57550690		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57550690G>C	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.1548G>C	12.37:g.57550690G>C							p.G516G	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	10	2014	+			516			EGF-like 3.		Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.1548G>C	CCDS8932.1																																																																																				0.657	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		12	29	0	0	0	1	0	12	29				
CCDC39	339829	broad.mit.edu	37	3	180377338	180377338	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr3:180377338G>C	ENST00000442201.2	-	6	759	c.640C>G	c.(640-642)Cgt>Ggt	p.R214G	CCDC39_ENST00000273654.4_Missense_Mutation_p.R298G	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	214					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.R298C(1)|p.R214C(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TGAATCTTACGAAAATCTTGT	0.348																																						ENST00000273654.4																			2	Substitution - Missense(2)	p.R298C(1)|p.R214C(1)	large_intestine(2)	NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(892-894)Cgt>Ggt		coiled-coil domain containing 39							243.0	223.0	230.0					3																	180377338		1870	4112	5982	SO:0001583	missense	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180377338G>C	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.640C>G	3.37:g.180377338G>C	ENSP00000405708:p.Arg214Gly					CCDC39_ENST00000442201.2_Missense_Mutation_p.R214G	p.R298G			Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		12	1511	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		214					B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.892C>G	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591390	0.66219	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	T;T	0.24908	1.83;1.83	5.65	3.84	0.44239	.	0.258546	0.42420	D	0.000716	T	0.46946	0.1419	M	0.82630	2.6	0.47949	D	0.999554	D	0.60575	0.988	P	0.58391	0.838	T	0.49969	-0.8882	10	0.66056	D	0.02	-5.55	10.8821	0.46944	0.0674:0.0:0.8023:0.1303	.	214	Q9UFE4	CCD39_HUMAN	G	298;214	ENSP00000273654:R298G;ENSP00000405708:R214G	ENSP00000273654:R298G	R	-	1	0	CCDC39	181860032	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.947000	0.70242	0.729000	0.32403	-0.196000	0.12772	CGT		0.348	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		11	60	0	0	0	1	0	11	60				
HIST1H4E	8367	broad.mit.edu	37	6	26205145	26205145	+	Silent	SNP	G	G	A	rs143252055	byFrequency	TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr6:26205145G>A	ENST00000360441.4	+	1	288	c.273G>A	c.(271-273)ctG>ctA	p.L91L		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	91					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				TCTACGCGCTGAAGAGACAGG	0.527													G|||	4	0.000798722	0.0023	0.0	5008	,	,		17496	0.001		0.0	False		,,,				2504	0.0					ENST00000360441.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18						c.(271-273)ctG>ctA		histone cluster 1, H4e							130.0	112.0	118.0					6																	26205145		2203	4300	6503	SO:0001819	synonymous_variant	8367				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26205145G>A	Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"""Histones / Replication-dependent"""	4790	protein-coding gene	gene with protein product		602830	"""H4 histone family, member J"", ""histone 1, H4e"""	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441	ENST00000360441.4:c.273G>A	6.37:g.26205145G>A							p.L91L	NM_003545.3	NP_003536.1	P62805	H4_HUMAN			1	288	+		all_hematologic(11;0.196)	91					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000360441.4	37	c.273G>A	CCDS4593.1																																																																																				0.527	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040104.1	NM_003545		16	50	0	0	0	1	0	16	50				
MRPL53	116540	broad.mit.edu	37	2	74699249	74699249	+	Silent	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr2:74699249G>A	ENST00000258105.7	-	3	997	c.336C>T	c.(334-336)cgC>cgT	p.R112R	MRPL53_ENST00000409710.1_3'UTR	NM_053050.4	NP_444278.1	Q96EL3	RM53_HUMAN	mitochondrial ribosomal protein L53	112						mitochondrion (GO:0005739)|ribosome (GO:0005840)				central_nervous_system(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5						GGCGCTGTCAGCGACCAGTAT	0.547																																						ENST00000258105.7																			0				central_nervous_system(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5						c.(334-336)cgC>cgT		mitochondrial ribosomal protein L53							45.0	51.0	49.0					2																	74699249		2195	4299	6494	SO:0001819	synonymous_variant	116540					mitochondrion|ribosome		g.chr2:74699249G>A	BC012163	CCDS1944.1	2p13.1	2012-09-13			ENSG00000204822	ENSG00000204822		"""Mitochondrial ribosomal proteins / large subunits"""	16684	protein-coding gene	gene with protein product		611857				11551941	Standard	NM_053050		Approved		uc002sln.3	Q96EL3	OTTHUMG00000129961	ENST00000258105.7:c.336C>T	2.37:g.74699249G>A						MRPL53_ENST00000409710.1_3'UTR	p.R112R	NM_053050.4	NP_444278.1	Q96EL3	RM53_HUMAN			3	997	-			112						Silent	SNP	ENST00000258105.7	37	c.336C>T	CCDS1944.1																																																																																				0.547	MRPL53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252225.2	NM_053050		25	105	0	0	0	1	0	25	105				
EEF1B2	1933	broad.mit.edu	37	2	207026158	207026158	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr2:207026158G>T	ENST00000392222.2	+	3	667	c.292G>T	c.(292-294)Gat>Tat	p.D98Y	NDUFS1_ENST00000449699.1_5'Flank|NDUFS1_ENST00000423725.1_5'Flank|EEF1B2_ENST00000392221.1_Missense_Mutation_p.D98Y|NDUFS1_ENST00000455934.2_5'Flank|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|SNORD51_ENST00000384320.2_RNA|EEF1B2_ENST00000236957.5_Missense_Mutation_p.D98Y|SNORA41_ENST00000384675.1_RNA	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	98					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)			breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						TAGTAAAGATGATGATGACAT	0.468																																						ENST00000392222.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(292-294)Gat>Tat		eukaryotic translation elongation factor 1 beta 2							188.0	171.0	176.0					2																	207026158		2203	4300	6503	SO:0001583	missense	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207026158G>T	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.292G>T	2.37:g.207026158G>T	ENSP00000376056:p.Asp98Tyr					EEF1B2_ENST00000236957.5_Missense_Mutation_p.D98Y|EEF1B2_ENST00000392221.1_Missense_Mutation_p.D98Y	p.D98Y	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			3	667	+			98					A8K795|Q6IBH9	Missense_Mutation	SNP	ENST00000392222.2	37	c.292G>T	CCDS2367.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690343	0.88735	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222;ENST00000445505	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.17	5.17	0.71159	Translation elongation factor EF1B, beta/delta chains, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.76385	0.3980	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.85000	0.0899	10	0.87932	D	0	-18.9717	18.6581	0.91462	0.0:0.0:1.0:0.0	.	98	P24534	EF1B_HUMAN	Y	98	ENSP00000236957:D98Y;ENSP00000376055:D98Y;ENSP00000376056:D98Y;ENSP00000407730:D98Y	ENSP00000236957:D98Y	D	+	1	0	EEF1B2	206734403	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	8.552000	0.90682	2.413000	0.81919	0.555000	0.69702	GAT		0.468	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		32	52	1	0	1.56442e-22	1	1.87344e-22	32	52				
ADAM29	11086	broad.mit.edu	37	4	175896836	175896836	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr4:175896836T>A	ENST00000359240.3	+	5	830	c.160T>A	c.(160-162)Tat>Aat	p.Y54N	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.Y54N|ADAM29_ENST00000445694.1_Missense_Mutation_p.Y54N|ADAM29_ENST00000514159.1_Missense_Mutation_p.Y54N	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	54					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CTGGCTCTCCTATATCCTGCC	0.522																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(160-162)Tat>Aat		ADAM metallopeptidase domain 29							54.0	51.0	52.0					4																	175896836		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175896836T>A	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.160T>A	4.37:g.175896836T>A	ENSP00000352177:p.Tyr54Asn					ADAM29_ENST00000404450.4_Missense_Mutation_p.Y54N|ADAM29_ENST00000445694.1_Missense_Mutation_p.Y54N|ADAM29_ENST00000514159.1_Missense_Mutation_p.Y54N	p.Y54N	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	830	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	54					Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.160T>A	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	T	11.68	1.711923	0.30322	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000502940;ENST00000404450;ENST00000514159	T;T;T;T;T	0.10099	2.91;2.91;2.91;2.91;2.91	3.77	3.77	0.43336	Peptidase M12B, propeptide (1);	0.000000	0.33199	U	0.005174	T	0.40247	0.1109	H	0.94847	3.59	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.37454	-0.9705	9	.	.	.	.	9.1454	0.36930	0.0:0.0:0.0:1.0	.	54	Q9UKF5	ADA29_HUMAN	N	54	ENSP00000352177:Y54N;ENSP00000414544:Y54N;ENSP00000427674:Y54N;ENSP00000384229:Y54N;ENSP00000423517:Y54N	.	Y	+	1	0	ADAM29	176133411	0.782000	0.28689	0.028000	0.17463	0.066000	0.16364	2.730000	0.47335	1.936000	0.56123	0.519000	0.50382	TAT		0.522	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				15	27	0	0	0	1	0	15	27				
CYFIP2	26999	broad.mit.edu	37	5	156760406	156760406	+	Silent	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr5:156760406G>A	ENST00000521420.1	+	20	2350	c.2259G>A	c.(2257-2259)ttG>ttA	p.L753L	CYFIP2_ENST00000318218.6_Silent_p.L804L|CYFIP2_ENST00000435847.2_Silent_p.L478L|CYFIP2_ENST00000377576.3_Silent_p.L779L|CYFIP2_ENST00000522463.1_Silent_p.L583L|CYFIP2_ENST00000541131.1_Silent_p.L704L|CYFIP2_ENST00000347377.6_Silent_p.L779L|CYFIP2_ENST00000442283.2_Silent_p.L64L					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATAAATCCTTGGACCAAGCTA	0.478																																						ENST00000347377.6																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38						c.(2335-2337)ttG>ttA		cytoplasmic FMR1 interacting protein 2							244.0	242.0	242.0					5																	156760406		1965	4170	6135	SO:0001819	synonymous_variant	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156760406G>A	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.2259G>A	5.37:g.156760406G>A						CYFIP2_ENST00000318218.6_Silent_p.L804L|CYFIP2_ENST00000541131.1_Silent_p.L704L|CYFIP2_ENST00000442283.2_Silent_p.L64L|CYFIP2_ENST00000435847.2_Silent_p.L478L|CYFIP2_ENST00000522463.1_Silent_p.L583L|CYFIP2_ENST00000377576.3_Silent_p.L779L|CYFIP2_ENST00000521420.1_Silent_p.L753L	p.L779L	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		21	2768	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	804						Silent	SNP	ENST00000521420.1	37	c.2337G>A																																																																																					0.478	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		72	222	0	0	0	1	0	72	222				
RGS7	6000	broad.mit.edu	37	1	240990401	240990401	+	Silent	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:240990401C>T	ENST00000407727.1	-	9	680	c.681G>A	c.(679-681)cgG>cgA	p.R227R	RGS7_ENST00000331110.7_Silent_p.R201R|RGS7_ENST00000366563.1_Silent_p.R227R|RGS7_ENST00000366562.4_Silent_p.R227R|RGS7_ENST00000401882.1_Silent_p.R174R|RGS7_ENST00000366565.1_Silent_p.R227R|RGS7_ENST00000348120.2_Silent_p.R174R|RGS7_ENST00000446183.2_Silent_p.R143R|RGS7_ENST00000366564.1_Silent_p.R227R			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	227					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GTTTTACCTTCCGTGTTTTGT	0.408																																						ENST00000366565.1																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(679-681)cgG>cgA		regulator of G-protein signaling 7							184.0	147.0	159.0					1																	240990401		2203	4300	6503	SO:0001819	synonymous_variant	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:240990401C>T	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.681G>A	1.37:g.240990401C>T						RGS7_ENST00000407727.1_Silent_p.R227R|RGS7_ENST00000331110.7_Silent_p.R201R|RGS7_ENST00000401882.1_Silent_p.R174R|RGS7_ENST00000446183.2_Silent_p.R143R|RGS7_ENST00000366562.4_Silent_p.R227R|RGS7_ENST00000366563.1_Silent_p.R227R|RGS7_ENST00000348120.2_Silent_p.R174R|RGS7_ENST00000366564.1_Silent_p.R227R	p.R227R	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		10	1062	-		all_cancers(173;0.0131)	227					Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Silent	SNP	ENST00000407727.1	37	c.681G>A																																																																																					0.408	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		15	36	0	0	0	1	0	15	36				
DPYSL2	1808	broad.mit.edu	37	8	26492304	26492304	+	Silent	SNP	C	C	T	rs529587582	byFrequency	TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr8:26492304C>T	ENST00000311151.5	+	8	1111	c.699C>T	c.(697-699)gcC>gcT	p.A233A	DPYSL2_ENST00000521983.1_3'UTR|DPYSL2_ENST00000521913.1_Silent_p.A197A|DPYSL2_ENST00000523027.1_Silent_p.A197A	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	233					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		AGGTCGAGGCCGAAGCCGTGA	0.567													c|||	2	0.000399361	0.0	0.0014	5008	,	,		16305	0.0		0.001	False		,,,				2504	0.0					ENST00000311151.5																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20						c.(697-699)gcC>gcT		dihydropyrimidinase-like 2							138.0	113.0	122.0					8																	26492304		2203	4300	6503	SO:0001819	synonymous_variant	1808				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding	g.chr8:26492304C>T	D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.699C>T	8.37:g.26492304C>T						DPYSL2_ENST00000521983.1_3'UTR|DPYSL2_ENST00000521913.1_Silent_p.A197A|DPYSL2_ENST00000523027.1_Silent_p.A197A	p.A233A	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)	8	1111	+		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)	233					A8K5H2|B4DR31|D3DSS7|O00424	Silent	SNP	ENST00000311151.5	37	c.699C>T	CCDS6051.1																																																																																				0.567	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216904.3	NM_001386		33	67	0	0	0	1	0	33	67				
CCDC174	51244	broad.mit.edu	37	3	14708357	14708357	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr3:14708357G>C	ENST00000383794.3	+	7	700	c.627G>C	c.(625-627)atG>atC	p.M209I	CCDC174_ENST00000303688.7_Missense_Mutation_p.M209I	NM_016474.4	NP_057558.3	Q6PII3	CC174_HUMAN	coiled-coil domain containing 174	209						cytoplasm (GO:0005737)|nucleus (GO:0005634)											CTGAAGATATGAGAAAAGAAC	0.413																																						ENST00000383794.3																			0											c.(625-627)atG>atC		coiled-coil domain containing 174							111.0	130.0	123.0					3																	14708357		2203	4300	6503	SO:0001583	missense	51244							g.chr3:14708357G>C	AF151046	CCDS2620.2	3p25.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000154781	ENSG00000154781			28033	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 19"""	C3orf19		11042152	Standard	NM_016474		Approved	FLJ33839	uc003byw.3	Q6PII3	OTTHUMG00000129837	ENST00000383794.3:c.627G>C	3.37:g.14708357G>C	ENSP00000373304:p.Met209Ile					CCDC174_ENST00000303688.7_Missense_Mutation_p.M209I	p.M209I	NM_016474.4	NP_057558.3					7	700	+								Q96CS5	Missense_Mutation	SNP	ENST00000383794.3	37	c.627G>C	CCDS2620.2	.	.	.	.	.	.	.	.	.	.	G	26.5	4.748223	0.89663	.	.	ENSG00000154781	ENST00000383794;ENST00000303688;ENST00000285042	T;T	0.49720	0.77;0.78	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.68247	0.2980	M	0.70595	2.14	0.58432	D	0.999999	D	0.76494	0.999	D	0.78314	0.991	T	0.66666	-0.5866	10	0.39692	T	0.17	-15.6731	18.0146	0.89235	0.0:0.0:1.0:0.0	.	209	Q6PII3	CC019_HUMAN	I	209;209;112	ENSP00000373304:M209I;ENSP00000302344:M209I	ENSP00000285042:M112I	M	+	3	0	C3orf19	14683361	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.563000	0.90723	2.550000	0.86006	0.591000	0.81541	ATG		0.413	CCDC174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252077.2	NM_016474		37	59	0	0	0	1	0	37	59				
CFAP46	54777	broad.mit.edu	37	10	134660573	134660573	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr10:134660573C>T	ENST00000368586.5	-	43	6230	c.6130G>A	c.(6130-6132)Gag>Aag	p.E2044K	TTC40_ENST00000263170.5_Missense_Mutation_p.E205K	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						AGCAGCACCTCTGACGCCTGA	0.672																																						ENST00000368586.5																			0				breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						c.(6130-6132)Gag>Aag		tetratricopeptide repeat domain 40							37.0	39.0	38.0					10																	134660573		2201	4299	6500	SO:0001583	missense	54777							g.chr10:134660573C>T																												ENST00000368586.5:c.6130G>A	10.37:g.134660573C>T	ENSP00000357575:p.Glu2044Lys					TTC40_ENST00000263170.5_Missense_Mutation_p.E205K	p.E2044K	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN			43	6230	-			205						Missense_Mutation	SNP	ENST00000368586.5	37	c.6130G>A	CCDS58101.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.654272	0.47467	.	.	ENSG00000171811	ENST00000368586;ENST00000263170	T;T	0.13657	2.63;2.57	4.42	4.42	0.53409	.	0.697924	0.11782	U	0.530055	T	0.33000	0.0848	M	0.64997	1.995	0.80722	D	1	D	0.64830	0.994	D	0.63703	0.917	T	0.01909	-1.1249	10	0.66056	D	0.02	.	12.909	0.58169	0.0:1.0:0.0:0.0	.	205	Q8IYW2	CJ092_HUMAN	K	2044;205	ENSP00000357575:E2044K;ENSP00000263170:E205K	ENSP00000263170:E205K	E	-	1	0	C10orf93	134510563	0.992000	0.36948	0.888000	0.34837	0.119000	0.20118	4.298000	0.59067	2.187000	0.69744	0.491000	0.48974	GAG		0.672	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			23	25	0	0	0	1	0	23	25				
NOP2	4839	broad.mit.edu	37	12	6672621	6672621	+	Silent	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr12:6672621G>A	ENST00000322166.5	-	8	869	c.748C>T	c.(748-750)Ctg>Ttg	p.L250L	NOP2_ENST00000537442.1_Silent_p.L250L|NOP2_ENST00000545200.1_Silent_p.L246L|NOP2_ENST00000399466.2_Silent_p.L246L|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000541778.1_Silent_p.L246L|NOP2_ENST00000382421.3_Silent_p.L283L	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	250					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						AAATCACGCAGAATTCCCACA	0.527											OREG0021630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000541778.1																			0				breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(736-738)Ctg>Ttg		NOP2 nucleolar protein							54.0	55.0	55.0					12																	6672621		1962	4152	6114	SO:0001819	synonymous_variant	4839				positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr12:6672621G>A		CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"""NOP2/Sun domain containing"""	7867	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 1"""	164031	"""nucleolar protein 1 (120kD)"", ""nucleolar protein 1, 120kDa"", ""nucleolar protein 2 homolog (yeast)"", ""NOP2 nucleolar protein homolog (yeast)"""	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.748C>T	12.37:g.6672621G>A			OREG0021630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	635	NOP2_ENST00000322166.5_Silent_p.L250L|NOP2_ENST00000399466.2_Silent_p.L246L|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000382421.3_Silent_p.L283L|NOP2_ENST00000545200.1_Silent_p.L246L|NOP2_ENST00000537442.1_Silent_p.L250L	p.L246L			P46087	NOP2_HUMAN			8	1224	-			250					A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Silent	SNP	ENST00000322166.5	37	c.736C>T	CCDS58203.1																																																																																				0.527	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1	NM_006170		11	15	0	0	0	1	0	11	15				
NUTM2B-AS1	101060691	broad.mit.edu	37	10	81444495	81444495	+	RNA	SNP	C	C	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr10:81444495C>A	ENST00000600376.1	-	0	54				RP11-119F19.2_ENST00000596088.1_RNA																							CCCCTATTCCCCAAGCTCTTC	0.607																																						ENST00000600376.1																			0																																																			101060691							g.chr10:81444495C>A																													10.37:g.81444495C>A						RP11-119F19.2_ENST00000596088.1_RNA								0	54	-									RNA	SNP	ENST00000600376.1	37																																																																																						0.607	RP11-119F19.2-004	KNOWN	basic	antisense	antisense	OTTHUMT00000461766.1			4	10	1	0	1	1	1	4	10				
DLX5	1749	broad.mit.edu	37	7	96651680	96651680	+	Splice_Site	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr7:96651680C>T	ENST00000222598.4	-	2	830	c.357G>A	c.(355-357)gaG>gaA	p.E119E	DLX5_ENST00000486603.2_Splice_Site_p.E119E|DLX5_ENST00000493764.1_Intron	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	119					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell proliferation (GO:0008283)|cellular response to BMP stimulus (GO:0071773)|embryonic limb morphogenesis (GO:0030326)|endochondral ossification (GO:0001958)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|olfactory pit development (GO:0060166)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)	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)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TCACTTCTTTCTCTAAATAAT	0.448																																						ENST00000222598.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20						c.e2-1		distal-less homeobox 5							94.0	93.0	94.0					7																	96651680		2203	4300	6503	SO:0001630	splice_region_variant	1749				cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr7:96651680C>T		CCDS5647.1	7q21.3	2011-06-20	2005-12-22		ENSG00000105880	ENSG00000105880		"""Homeoboxes / ANTP class : NKL subclass"""	2918	protein-coding gene	gene with protein product		600028	"""distal-less homeo box 5"""			7907794	Standard	XM_005250185		Approved		uc003uon.3	P56178	OTTHUMG00000154200	ENST00000222598.4:c.356-1G>A	7.37:g.96651680C>T						DLX5_ENST00000493764.1_Intron|DLX5_ENST00000486603.2_Splice_Site_p.E119_splice	p.E119_splice	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN			2	830	-	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		119					B7Z4P3|Q9UPL1	Splice_Site	SNP	ENST00000222598.4	37	c.355_splice	CCDS5647.1																																																																																				0.448	DLX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334371.2		Silent	17	44	0	0	0	1	0	17	44				
GPR12	2835	broad.mit.edu	37	13	27333245	27333245	+	Silent	SNP	C	C	T	rs534837095		TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr13:27333245C>T	ENST00000381436.2	-	1	1182	c.720G>A	c.(718-720)acG>acA	p.T240T	GPR12_ENST00000405846.3_Silent_p.T240T			P47775	GPR12_HUMAN	G protein-coupled receptor 12	240					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		CATAGTGCGACGTGGCCAGGA	0.537																																						ENST00000405846.3																			0				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(718-720)acG>acA		G protein-coupled receptor 12							61.0	59.0	59.0					13																	27333245		2203	4300	6503	SO:0001819	synonymous_variant	2835					integral to plasma membrane		g.chr13:27333245C>T	U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"""GPCR / Class A : Orphans"""	4466	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 84"""	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.720G>A	13.37:g.27333245C>T						GPR12_ENST00000381436.2_Silent_p.T240T	p.T240T	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)	2	941	-	Colorectal(5;5.77e-05)	Breast(139;0.198)	240					Q5T8P3	Silent	SNP	ENST00000381436.2	37	c.720G>A	CCDS9319.1																																																																																				0.537	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044257.2			15	17	0	0	0	1	0	15	17				
TP53	7157	broad.mit.edu	37	17	7573984	7573984	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:7573984A>G	ENST00000269305.4	-	10	1232	c.1043T>C	c.(1042-1044)tTg>tCg	p.L348S	TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.L348S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	348	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		L -> F (in a sporadic cancer; somatic mutation).|L -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.L348*(2)|p.I332fs*5(1)|p.?(1)|p.L348fs*1(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTTGAGTTCCAAGGCCTCATT	0.592		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000269305.4		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		13	Whole gene deletion(8)|Substitution - Nonsense(2)|Unknown(1)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.0?(8)|p.L348*(2)|p.I332fs*5(1)|p.?(1)|p.L348fs*1(1)	bone(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|stomach(1)|oesophagus(1)|ovary(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(1042-1044)tTg>tCg	Other conserved DNA damage response genes	tumor protein p53							62.0	48.0	53.0					17																	7573984		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7573984A>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1043T>C	17.37:g.7573984A>G	ENSP00000269305:p.Leu348Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.L348S|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron	p.L348S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1232	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	348		L -> F (in a sporadic cancer; somatic mutation).|L -> S (in a sporadic cancer; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.1043T>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.728697	0.89390	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	D;D	0.98684	-5.07;-5.07	5.43	5.43	0.79202	p53, tetramerisation domain (3);	0.000000	0.64402	D	0.000002	D	0.99171	0.9713	M	0.89414	3.03	0.49130	D	0.999758	D	0.89917	1.0	D	0.97110	1.0	D	0.99425	1.0934	10	0.87932	D	0	-16.3606	13.43	0.61049	1.0:0.0:0.0:0.0	.	348	P04637	P53_HUMAN	S	348;348;337	ENSP00000269305:L348S;ENSP00000391478:L348S	ENSP00000269305:L348S	L	-	2	0	TP53	7514709	1.000000	0.71417	0.946000	0.38457	0.965000	0.64279	7.690000	0.84178	2.061000	0.61500	0.459000	0.35465	TTG		0.592	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		10	36	0	0	0	1	0	10	36				
CASC5	57082	broad.mit.edu	37	15	40917336	40917336	+	Missense_Mutation	SNP	A	A	G	rs144727202		TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr15:40917336A>G	ENST00000346991.5	+	11	5342	c.4952A>G	c.(4951-4953)aAg>aGg	p.K1651R	CASC5_ENST00000399668.2_Missense_Mutation_p.K1625R			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1651					acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GAAAATAAAAAGTCTCATAAT	0.358																																						ENST00000346991.5																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(4951-4953)aAg>aGg		cancer susceptibility candidate 5							73.0	72.0	72.0					15																	40917336		1824	4082	5906	SO:0001583	missense	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40917336A>G	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.4952A>G	15.37:g.40917336A>G	ENSP00000335463:p.Lys1651Arg					CASC5_ENST00000399668.2_Missense_Mutation_p.K1625R	p.K1651R			Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	11	5342	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	1651					Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	c.4952A>G	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	A	0.714	-0.786020	0.02907	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.04970	3.52;3.52	5.02	-4.0	0.04057	.	1.733700	0.03063	N	0.156086	T	0.04227	0.0117	N	0.22421	0.69	0.09310	N	1	B;B;B	0.29805	0.006;0.257;0.257	B;B;B	0.29077	0.007;0.098;0.098	T	0.34179	-0.9839	10	0.25751	T	0.34	.	3.8596	0.08990	0.1543:0.3641:0.3638:0.1179	.	1625;1651;1625	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	R	1651;1625;1625	ENSP00000335463:K1651R;ENSP00000382576:K1625R	ENSP00000260369:K1625R	K	+	2	0	CASC5	38704628	0.000000	0.05858	0.000000	0.03702	0.167000	0.22549	-0.120000	0.10660	-0.963000	0.03600	0.372000	0.22366	AAG		0.358	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		36	87	0	0	0	1	0	36	87				
POMGNT1	55624	broad.mit.edu	37	1	46656406	46656406	+	Silent	SNP	G	G	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:46656406G>C	ENST00000371984.3	-	18	1747	c.1590C>G	c.(1588-1590)ctC>ctG	p.L530L	POMGNT1_ENST00000371986.3_Silent_p.L530L|POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371992.1_Silent_p.L530L|POMGNT1_ENST00000535522.1_Silent_p.L508L	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	530					protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					CCACATTCCTGAGCTGGACAC	0.552																																						ENST00000371992.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1588-1590)ctC>ctG		protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)							116.0	100.0	105.0					1																	46656406		2203	4300	6503	SO:0001819	synonymous_variant	55624				protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity	g.chr1:46656406G>C		CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	19139	protein-coding gene	gene with protein product	"""protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"""	606822	"""muscle-eye-brain disease"", ""protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"""	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.1590C>G	1.37:g.46656406G>C						POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371984.3_Silent_p.L530L|POMGNT1_ENST00000371986.3_Silent_p.L530L|POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000535522.1_Silent_p.L508L	p.L530L	NM_001243766.1	NP_001230695.1	Q8WZA1	PMGT1_HUMAN			18	2240	-	Acute lymphoblastic leukemia(166;0.155)		530					D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Silent	SNP	ENST00000371984.3	37	c.1590C>G	CCDS531.1																																																																																				0.552	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1	NM_017739		32	56	0	0	0	1	0	32	56				
SRF	6722	broad.mit.edu	37	6	43143635	43143635	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr6:43143635G>C	ENST00000265354.4	+	3	1330	c.972G>C	c.(970-972)aaG>aaC	p.K324N	SRF_ENST00000457278.2_Missense_Mutation_p.K120N	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	324					angiogenesis involved in wound healing (GO:0060055)|associative learning (GO:0008306)|cardiac myofibril assembly (GO:0055003)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular senescence (GO:0090398)|contractile actin filament bundle assembly (GO:0030038)|developmental growth (GO:0048589)|dorsal aorta morphogenesis (GO:0035912)|epithelial cell-cell adhesion (GO:0090136)|epithelial structure maintenance (GO:0010669)|erythrocyte development (GO:0048821)|eyelid development in camera-type eye (GO:0061029)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|hematopoietic stem cell differentiation (GO:0060218)|hippocampus development (GO:0021766)|long term synaptic depression (GO:0060292)|long-term memory (GO:0007616)|megakaryocyte development (GO:0035855)|mesoderm formation (GO:0001707)|morphogenesis of an epithelial sheet (GO:0002011)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet formation (GO:0030220)|positive regulation of cell differentiation (GO:0045597)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription by glucose (GO:0046016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive thymic T cell selection (GO:0045059)|primitive streak formation (GO:0090009)|regulation of cell adhesion (GO:0030155)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of water loss via skin (GO:0033561)|response to cytokine (GO:0034097)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|sarcomere organization (GO:0045214)|skin morphogenesis (GO:0043589)|stress fiber assembly (GO:0043149)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|tight junction assembly (GO:0070830)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CTGTGCTGAAGAGTACAGGCA	0.607																																						ENST00000265354.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12						c.(970-972)aaG>aaC		serum response factor (c-fos serum response element-binding transcription factor)							106.0	94.0	98.0					6																	43143635		2203	4300	6503	SO:0001583	missense	6722				angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding	g.chr6:43143635G>C	J03161	CCDS4889.1	6p	2008-02-05			ENSG00000112658	ENSG00000112658			11291	protein-coding gene	gene with protein product		600589				3203386	Standard	NM_003131		Approved	MCM1	uc003oui.3	P11831	OTTHUMG00000014722	ENST00000265354.4:c.972G>C	6.37:g.43143635G>C	ENSP00000265354:p.Lys324Asn					SRF_ENST00000457278.2_Missense_Mutation_p.K120N	p.K324N	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		3	1330	+			324					Q5T648	Missense_Mutation	SNP	ENST00000265354.4	37	c.972G>C	CCDS4889.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.157514	0.57368	.	.	ENSG00000112658	ENST00000265354;ENST00000457278	D	0.85088	-1.94	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.82990	0.5157	L	0.50333	1.59	0.52501	D	0.999956	D	0.62365	0.991	P	0.58013	0.831	D	0.83917	0.0299	10	0.46703	T	0.11	-2.7796	9.0884	0.36596	0.1643:0.0:0.8357:0.0	.	324	P11831	SRF_HUMAN	N	324;120	ENSP00000265354:K324N	ENSP00000265354:K324N	K	+	3	2	SRF	43251613	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.315000	0.43752	2.273000	0.75805	0.561000	0.74099	AAG		0.607	SRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040581.1	NM_003131		25	76	0	0	0	1	0	25	76				
CR1	1378	broad.mit.edu	37	1	207790136	207790136	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:207790136C>G	ENST00000367049.4	+	41	6878	c.6878C>G	c.(6877-6879)tCt>tGt	p.S2293C	CR1_ENST00000367052.1_Missense_Mutation_p.S1843C|CR1_ENST00000367051.1_Missense_Mutation_p.S1843C|CR1_ENST00000400960.2_Missense_Mutation_p.S1843C|CR1_ENST00000367053.1_Missense_Mutation_p.S1843C	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1843					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGTGAACTTTCTGTTCCTGCT	0.488																																						ENST00000367049.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(6877-6879)tCt>tGt		complement component (3b/4b) receptor 1 (Knops blood group)							121.0	120.0	120.0					1																	207790136		1931	4128	6059	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207790136C>G	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6878C>G	1.37:g.207790136C>G	ENSP00000356016:p.Ser2293Cys					CR1_ENST00000367053.1_Missense_Mutation_p.S1843C|CR1_ENST00000367051.1_Missense_Mutation_p.S1843C|CR1_ENST00000367052.1_Missense_Mutation_p.S1843C|CR1_ENST00000400960.2_Missense_Mutation_p.S1843C	p.S2293C	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			41	6878	+			1843					Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.6878C>G	CCDS44308.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.97|12.97	2.097864|2.097864	0.37048|0.37048	.|.	.|.	ENSG00000203710|ENSG00000203710	ENST00000529814|ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	.|T;T;T;T;T	.|0.35973	.|1.3;1.41;1.28;1.28;1.28	3.88|3.88	1.95|1.95	0.26073|0.26073	.|.	.|.	.|.	.|.	.|.	T|T	0.55545|0.55545	0.1927|0.1927	M|M	0.82323|0.82323	2.585|2.585	0.09310|0.09310	N|N	1|1	.|D;D	.|0.89917	.|0.999;1.0	.|P;D	.|0.69824	.|0.89;0.966	T|T	0.38972|0.38972	-0.9636|-0.9636	5|9	.|0.52906	.|T	.|0.07	.|.	4.7658|4.7658	0.13132|0.13132	0.2112:0.6767:0.0:0.1121|0.2112:0.6767:0.0:0.1121	.|.	.|1843;2293	.|P17927;E9PDY4	.|CR1_HUMAN;.	V|C	466|1843;1843;1843;1843;2293	.|ENSP00000356019:S1843C;ENSP00000356018:S1843C;ENSP00000356020:S1843C;ENSP00000383744:S1843C;ENSP00000356016:S2293C	.|ENSP00000356016:S2293C	L|S	+|+	1|2	2|0	CR1|CR1	205856759|205856759	0.015000|0.015000	0.18098|0.18098	0.001000|0.001000	0.08648|0.08648	0.228000|0.228000	0.25075|0.25075	0.642000|0.642000	0.24735|0.24735	0.579000|0.579000	0.29504|0.29504	0.609000|0.609000	0.83330|0.83330	CTG|TCT		0.488	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		35	89	0	0	0	1	0	35	89				
MYCBP2	23077	broad.mit.edu	37	13	77650977	77650977	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr13:77650977C>A	ENST00000544440.2	-	68	11635	c.11618G>T	c.(11617-11619)gGa>gTa	p.G3873V	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000407578.2_Missense_Mutation_p.G3911V|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2-AS1_ENST00000596342.1_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.G3873V|MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2-AS1_ENST00000448470.2_RNA					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GATGAGCTTTCCAAATACCTG	0.378																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(11731-11733)gGa>gTa		MYC binding protein 2, E3 ubiquitin protein ligase							127.0	117.0	121.0					13																	77650977		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77650977C>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.11618G>T	13.37:g.77650977C>A	ENSP00000444596:p.Gly3873Val					MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.G3873V|MYCBP2-AS1_ENST00000596342.1_RNA|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.G3873V|MYCBP2-AS1_ENST00000593933.1_RNA	p.G3911V	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	68	11998	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	3873						Missense_Mutation	SNP	ENST00000544440.2	37	c.11732G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.6|26.6	4.756313|4.756313	0.89843|0.89843	.|.	.|.	ENSG00000005810|ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440|ENST00000429715	T;T;T|.	0.35605|.	1.3;1.3;1.3|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76695|0.76695	0.4023|0.4023	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	T|T	0.74150|0.74150	-0.3758|-0.3758	10|5	0.87932|.	D|.	0|.	.|.	20.114|20.114	0.97919|0.97919	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3873|.	O75592|.	MYCB2_HUMAN|.	V|C	3873;3911;3873|296	ENSP00000349892:G3873V;ENSP00000384288:G3911V;ENSP00000444596:G3873V|.	ENSP00000349892:G3873V|.	G|W	-|-	2|3	0|0	MYCBP2|MYCBP2	76548978|76548978	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	7.487000|7.487000	0.81328|0.81328	2.763000|2.763000	0.94921|0.94921	0.585000|0.585000	0.79938|0.79938	GGA|TGG		0.378	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		12	26	1	0	0.00185496	1	0.00188409	12	26				
MSH3	4437	broad.mit.edu	37	5	79965953	79965953	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr5:79965953C>G	ENST00000265081.6	+	4	697	c.617C>G	c.(616-618)tCa>tGa	p.S206*		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	206	Interaction with EXO1.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TTTGGATCATCAAATACAAGT	0.338								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(616-618)tCa>tGa	Mismatch excision repair (MMR)	mutS homolog 3							71.0	70.0	70.0					5																	79965953		2203	4300	6503	SO:0001587	stop_gained	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:79965953C>G	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.617C>G	5.37:g.79965953C>G	ENSP00000265081:p.Ser206*						p.S206*	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	4	697	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	206			Interaction with EXO1.		A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Nonsense_Mutation	SNP	ENST00000265081.6	37	c.617C>G	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191579	0.78902	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	.	.	.	4.64	3.76	0.43208	.	3.891560	0.00357	N	0.000037	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.6535	10.4661	0.44609	0.0:0.9071:0.0:0.0929	.	.	.	.	X	206;197	.	.	S	+	2	0	MSH3	80001709	0.004000	0.15560	0.762000	0.31397	0.312000	0.27988	1.217000	0.32455	0.956000	0.37904	0.655000	0.94253	TCA		0.338	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		4	21	0	0	0	1	0	4	21				
CTCFL	140690	broad.mit.edu	37	20	56098196	56098196	+	Nonsense_Mutation	SNP	C	C	A	rs371746850		TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr20:56098196C>A	ENST00000608263.1	-	2	1343	c.682G>T	c.(682-684)Gag>Tag	p.E228*	CTCFL_ENST00000433949.3_Nonsense_Mutation_p.E23*|CTCFL_ENST00000432255.2_Nonsense_Mutation_p.E228*|CTCFL_ENST00000422869.2_Nonsense_Mutation_p.E228*|CTCFL_ENST00000481655.2_Nonsense_Mutation_p.E228*|CTCFL_ENST00000539382.1_Nonsense_Mutation_p.E23*|CTCFL_ENST00000243914.3_Nonsense_Mutation_p.E228*|CTCFL_ENST00000608425.1_Nonsense_Mutation_p.E228*|CTCFL_ENST00000371196.2_Nonsense_Mutation_p.E228*|CTCFL_ENST00000608158.1_Nonsense_Mutation_p.E228*|CTCFL_ENST00000608440.1_Nonsense_Mutation_p.E228*|CTCFL_ENST00000429804.3_Nonsense_Mutation_p.E228*|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000423479.3_Nonsense_Mutation_p.E228*|CTCFL_ENST00000609232.1_Nonsense_Mutation_p.E228*|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000502686.2_Intron	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	228					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)			GGTTGATCCTCTTGTTCTTCC	0.388																																						ENST00000426658.2																			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.(682-684)Gag>Tag		CCCTC-binding factor (zinc finger protein)-like							220.0	202.0	208.0					20																	56098196		2202	4300	6502	SO:0001587	stop_gained	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.chr20:56098196C>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.682G>T	20.37:g.56098196C>A	ENSP00000476783:p.Glu228*					CTCFL_ENST00000371196.2_Nonsense_Mutation_p.E228*|CTCFL_ENST00000539382.1_Nonsense_Mutation_p.E23*|CTCFL_ENST00000243914.3_Nonsense_Mutation_p.E228*|CTCFL_ENST00000422109.2_Nonsense_Mutation_p.E228*|CTCFL_ENST00000433949.2_Nonsense_Mutation_p.E228*|CTCFL_ENST00000432255.2_Nonsense_Mutation_p.E228*|CTCFL_ENST00000429804.2_Nonsense_Mutation_p.E228*|CTCFL_ENST00000423479.2_Nonsense_Mutation_p.E228*|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000422869.2_Nonsense_Mutation_p.E228*	p.E228*			Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		2	1343	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		228					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Nonsense_Mutation	SNP	ENST00000608263.1	37	c.682G>T	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	C	40	7.960089	0.98583	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000422109;ENST00000426658;ENST00000432255;ENST00000539382;ENST00000422869	.	.	.	4.87	1.35	0.21983	.	0.602211	0.13624	N	0.374218	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-6.7343	6.9757	0.24674	0.0:0.4481:0.4493:0.1026	.	.	.	.	X	228;228;228;228;228;228;228;228;23;228	.	ENSP00000243914:E228X	E	-	1	0	CTCFL	55531602	0.000000	0.05858	0.001000	0.08648	0.037000	0.13140	0.049000	0.14099	0.354000	0.24105	0.591000	0.81541	GAG		0.388	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		32	49	1	0	1.30897e-18	1	1.52976e-18	32	49				
CDCA7L	55536	broad.mit.edu	37	7	21948040	21948040	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr7:21948040G>A	ENST00000406877.3	-	4	668	c.389C>T	c.(388-390)cCt>cTt	p.P130L	CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000373934.4_Missense_Mutation_p.P84L|CDCA7L_ENST00000356195.5_Missense_Mutation_p.P96L	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	130					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						GCTTCTTCTAGGGGTAGCCTT	0.438																																						ENST00000406877.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						c.(388-390)cCt>cTt		cell division cycle associated 7-like							116.0	102.0	107.0					7																	21948040		2203	4300	6503	SO:0001583	missense	55536				positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus		g.chr7:21948040G>A		CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.389C>T	7.37:g.21948040G>A	ENSP00000383986:p.Pro130Leu					CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000356195.5_Missense_Mutation_p.P96L|CDCA7L_ENST00000373934.4_Missense_Mutation_p.P84L	p.P130L	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN			4	668	-			130					A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Missense_Mutation	SNP	ENST00000406877.3	37	c.389C>T	CCDS5374.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886579	0.33348	.	.	ENSG00000164649	ENST00000356195;ENST00000406877;ENST00000373934;ENST00000457951;ENST00000447180;ENST00000435031	T;T;T;T	0.48836	0.92;0.91;0.84;0.8	5.1	4.22	0.49857	.	1.569730	0.04156	N	0.322248	T	0.45094	0.1325	L	0.47716	1.5	0.09310	N	1	B;B;B;B	0.23249	0.049;0.049;0.049;0.082	B;B;B;B	0.21708	0.016;0.016;0.016;0.036	T	0.29336	-1.0015	10	0.29301	T	0.29	-5.3144	9.703	0.40198	0.0936:0.0:0.9064:0.0	.	130;84;130;129	A8K8X5;C9K0Y1;Q96GN5;Q96GN5-2	.;.;CDA7L_HUMAN;.	L	96;130;84;83;95;96	ENSP00000348523:P96L;ENSP00000383986:P130L;ENSP00000363045:P84L;ENSP00000406616:P83L	ENSP00000348523:P96L	P	-	2	0	CDCA7L	21914565	0.020000	0.18652	0.002000	0.10522	0.001000	0.01503	2.312000	0.43726	1.531000	0.49152	-0.140000	0.14226	CCT		0.438	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719		18	77	0	0	0	1	0	18	77				
PSTPIP1	9051	broad.mit.edu	37	15	77324641	77324641	+	Silent	SNP	C	C	G			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr15:77324641C>G	ENST00000558012.1	+	11	1233	c.744C>G	c.(742-744)ctC>ctG	p.L248L	PSTPIP1_ENST00000557995.1_3'UTR|PSTPIP1_ENST00000267939.5_Silent_p.L247L|PSTPIP1_ENST00000379595.3_Silent_p.L248L|PSTPIP1_ENST00000559295.1_Silent_p.L248L	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	248					cell adhesion (GO:0007155)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|signal transduction (GO:0007165)	actomyosin contractile ring (GO:0005826)|cell projection (GO:0042995)|cleavage furrow (GO:0032154)|cytosol (GO:0005829)|membrane (GO:0016020)|stress fiber (GO:0001725)				breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						TGCCCCAGCTCTACGAGGAAG	0.667																																						ENST00000558012.1																			0				breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(742-744)ctC>ctG		proline-serine-threonine phosphatase interacting protein 1							24.0	28.0	26.0					15																	77324641		2061	4179	6240	SO:0001819	synonymous_variant	9051				cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity	g.chr15:77324641C>G	U94778	CCDS45312.1	15q24.3	2014-09-17			ENSG00000140368	ENSG00000140368			9580	protein-coding gene	gene with protein product	"""CD2 cytoplasmic tail-binding protein"", ""CD2 antigen-binding protein 1"", ""PEST phosphatase-interacting protein 1"""	606347				9857189	Standard	NM_003978		Approved	PSTPIP, CD2BP1L, CD2BP1, CD2BP1S, H-PIP, PAPAS	uc002bcf.2	O43586	OTTHUMG00000172594	ENST00000558012.1:c.744C>G	15.37:g.77324641C>G						PSTPIP1_ENST00000559295.1_Silent_p.L248L|PSTPIP1_ENST00000379595.3_Silent_p.L248L|PSTPIP1_ENST00000557995.1_3'UTR|PSTPIP1_ENST00000267939.5_Silent_p.L247L	p.L248L	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN			11	1233	+			248					B5BU74|B5BUK4|O43585|O95657	Silent	SNP	ENST00000558012.1	37	c.744C>G	CCDS45312.1																																																																																				0.667	PSTPIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000419373.2	NM_003978		8	59	0	0	0	1	0	8	59				
HECTD4	283450	broad.mit.edu	37	12	112699209	112699209	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr12:112699209G>A	ENST00000430131.2	-	17	2622	c.1477C>T	c.(1477-1479)Ctt>Ttt	p.L493F	RP3-521E19.2_ENST00000547401.1_RNA|HECTD4_ENST00000550722.1_Missense_Mutation_p.L779F|HECTD4_ENST00000377560.5_Missense_Mutation_p.L743F			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	493					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TGGGTGGCAAGAGCCAAAATA	0.403																																						ENST00000550722.1																			0											c.(2335-2337)Ctt>Ttt		HECT domain containing E3 ubiquitin protein ligase 4							104.0	96.0	99.0					12																	112699209		2203	4300	6503	SO:0001583	missense	283450							g.chr12:112699209G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.1477C>T	12.37:g.112699209G>A	ENSP00000404379:p.Leu493Phe					HECTD4_ENST00000430131.2_Missense_Mutation_p.L493F|HECTD4_ENST00000377560.5_Missense_Mutation_p.L743F	p.L779F	NM_001109662.3	NP_001103132.3					18	2730	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.2335C>T		.	.	.	.	.	.	.	.	.	.	G	22.5	4.291912	0.80914	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.63096	-0.02;-0.0;-0.02	6.02	6.02	0.97574	.	0.140669	0.47093	D	0.000244	T	0.66674	0.2813	N	0.19112	0.55	0.45979	D	0.998793	D;D;D	0.69078	0.997;0.995;0.997	D;D;D	0.78314	0.991;0.979;0.991	T	0.69833	-0.5038	10	0.87932	D	0	.	13.7061	0.62639	0.07:0.0:0.93:0.0	.	493;493;493	Q9Y4D8-2;Q9Y4D8;Q9Y4D8-3	.;K0614_HUMAN;.	F	743;493;779	ENSP00000366783:L743F;ENSP00000404379:L493F;ENSP00000449784:L779F	ENSP00000366783:L743F	L	-	1	0	C12orf51	111183592	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.459000	0.66685	2.850000	0.98022	0.650000	0.86243	CTT		0.403	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		15	42	0	0	0	1	0	15	42				
NPFFR2	10886	broad.mit.edu	37	4	73013516	73013516	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr4:73013516G>A	ENST00000308744.6	+	4	1654	c.1556G>A	c.(1555-1557)aGc>aAc	p.S519N	NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.S417N|NPFFR2_ENST00000395999.1_Missense_Mutation_p.S420N	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	519					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			ACTACTAACAGCAGTGAGATT	0.338																																						ENST00000308744.6																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1555-1557)aGc>aAc		neuropeptide FF receptor 2							38.0	41.0	40.0					4																	73013516		2202	4300	6502	SO:0001583	missense	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:73013516G>A	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.1556G>A	4.37:g.73013516G>A	ENSP00000307822:p.Ser519Asn					NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000395999.1_Missense_Mutation_p.S420N|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.S417N	p.S519N	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		4	1654	+			519					Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	c.1556G>A	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.467845	0.26335	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.73152	-0.72;-0.49;-0.51	4.71	-3.35	0.04928	.	0.538491	0.17059	N	0.188621	T	0.56077	0.1961	L	0.37630	1.12	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.004;0.003	T	0.41124	-0.9526	10	0.35671	T	0.21	.	13.5825	0.61911	0.8288:0.0:0.1712:0.0	.	420;519	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	N	519;420;417	ENSP00000307822:S519N;ENSP00000379321:S420N;ENSP00000351599:S417N	ENSP00000307822:S519N	S	+	2	0	NPFFR2	73232380	0.000000	0.05858	0.000000	0.03702	0.166000	0.22503	-0.007000	0.12810	-0.648000	0.05437	-0.253000	0.11424	AGC		0.338	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		22	26	0	0	0	1	0	22	26				
MUC5B	727897	broad.mit.edu	37	11	1268756	1268756	+	Missense_Mutation	SNP	G	G	A	rs572495631		TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr11:1268756G>A	ENST00000529681.1	+	31	10704	c.10646G>A	c.(10645-10647)cGc>cAc	p.R3549H	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.R3552H	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3549	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGCAAGACCCGCACCTCGACC	0.687													-|||	1	0.000199681	0.0	0.0	5008	,	,		15753	0.0		0.0	False		,,,				2504	0.001					ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(10654-10656)cGc>cAc		mucin 5B, oligomeric mucus/gel-forming							54.0	83.0	73.0					11																	1268756		2063	4188	6251	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1268756G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10646G>A	11.37:g.1268756G>A	ENSP00000436812:p.Arg3549His					MUC5B_ENST00000529681.1_Missense_Mutation_p.R3549H|RP11-532E4.2_ENST00000532061.2_RNA	p.R3552H			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	10713	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3549	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.10655G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	7.649	0.682460	0.14907	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.16743	2.32;2.5	2.03	-4.07	0.03975	.	.	.	.	.	T	0.25005	0.0607	L	0.50333	1.59	0.09310	N	1	D;P	0.65815	0.995;0.858	P;B	0.61201	0.885;0.244	T	0.21245	-1.0251	9	0.87932	D	0	.	5.9433	0.19205	0.165:0.5755:0.2595:0.0	.	4077;3552	A7Y9J9;E9PBJ0	.;.	H	3549;3552;3521;3454	ENSP00000436812:R3549H;ENSP00000415793:R3552H	ENSP00000343037:R3521H	R	+	2	0	MUC5B	1225332	0.000000	0.05858	0.002000	0.10522	0.049000	0.14656	-1.629000	0.02029	-0.339000	0.08401	0.297000	0.19635	CGC		0.687	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		4	164	0	0	0	1	0	4	164				
LRRN4	164312	broad.mit.edu	37	20	6031435	6031435	+	Silent	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr20:6031435G>A	ENST00000378858.4	-	3	1074	c.850C>T	c.(850-852)Ctg>Ttg	p.L284L		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	284					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						TTCTGGAACAGAAGGACCTGT	0.458																																						ENST00000378858.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						c.(850-852)Ctg>Ttg		leucine rich repeat neuronal 4							159.0	156.0	157.0					20																	6031435		2203	4300	6503	SO:0001819	synonymous_variant	164312					integral to membrane		g.chr20:6031435G>A	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.850C>T	20.37:g.6031435G>A							p.L284L	NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN			3	1074	-			284					A8K258|Q5JWV6|Q9H419	Silent	SNP	ENST00000378858.4	37	c.850C>T	CCDS13097.1																																																																																				0.458	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		38	94	0	0	0	1	0	38	94				
FRG1B	284802	broad.mit.edu	37	20	29628301	29628301	+	Silent	SNP	T	T	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr20:29628301T>C	ENST00000278882.3	+	6	683	c.303T>C	c.(301-303)agT>agC	p.S101S	FRG1B_ENST00000439954.2_Silent_p.S106S|FRG1B_ENST00000358464.4_Silent_p.S101S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AAGCAAAAAGTAAAACAGCAG	0.353																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)agT>agC																																						SO:0001819	synonymous_variant	284802							g.chr20:29628301T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.303T>C	20.37:g.29628301T>C						FRG1B_ENST00000358464.4_Silent_p.S101S|FRG1B_ENST00000439954.2_Silent_p.S106S	p.S101S							6	683	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.303T>C																																																																																					0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	73	0	0	0	1	0	5	73				
GDF10	2662	broad.mit.edu	37	10	48438681	48438681	+	Silent	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr10:48438681C>T	ENST00000224605.2	-	1	295	c.30G>A	c.(28-30)ccG>ccA	p.P10P		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	10					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GCCCGGGTCCCGGGCTGGTCC	0.721																																						ENST00000224605.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						c.(28-30)ccG>ccA		growth differentiation factor 10							7.0	9.0	8.0					10																	48438681		1748	3811	5559	SO:0001819	synonymous_variant	2662				growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr10:48438681C>T	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.30G>A	10.37:g.48438681C>T							p.P10P	NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN			1	295	-			10					Q5VSQ8|Q9UCX6	Silent	SNP	ENST00000224605.2	37	c.30G>A	CCDS7220.1																																																																																				0.721	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		10	15	0	0	0	1	0	10	15				
CHN1	1123	broad.mit.edu	37	2	175689193	175689193	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr2:175689193C>A	ENST00000409900.3	-	8	994	c.681G>T	c.(679-681)tgG>tgT	p.W227C	CHN1_ENST00000409156.3_Missense_Mutation_p.W201C|CHN1_ENST00000409597.1_Missense_Mutation_p.W43C|CHN1_ENST00000295497.7_Missense_Mutation_p.W102C|CHN1_ENST00000488080.1_5'UTR	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	227					ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			CAATGAGACCCCACATAAAGT	0.463			T	TAF15	extraskeletal myxoid chondrosarcoma																																	ENST00000409900.3				Dom	yes		2	2q31-q32.1	1123	T	chimerin (chimaerin) 1			M	TAF15		extraskeletal myxoid chondrosarcoma		0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(679-681)tgG>tgT		chimerin 1							84.0	75.0	78.0					2																	175689193		1952	4183	6135	SO:0001583	missense	1123				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr2:175689193C>A		CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1943	protein-coding gene	gene with protein product	"""Chimerin 1 (GTPase-activating protein, rho, 2)"", ""chimaerin 1"""	118423	"""Duane retraction syndrome 2"", ""chimerin (chimaerin) 1"""	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.681G>T	2.37:g.175689193C>A	ENSP00000386741:p.Trp227Cys					CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000409597.1_Missense_Mutation_p.W43C|CHN1_ENST00000295497.7_Missense_Mutation_p.W102C|CHN1_ENST00000409156.3_Missense_Mutation_p.W201C	p.W227C	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.226)		8	994	-			227					A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Missense_Mutation	SNP	ENST00000409900.3	37	c.681G>T	CCDS46455.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453852	0.84209	.	.	ENSG00000128656	ENST00000409900;ENST00000295497;ENST00000409597;ENST00000409156;ENST00000409089;ENST00000444394;ENST00000413882;ENST00000443238;ENST00000444573	D;D;D;D;D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-1.95;-3.24;-3.24;-3.24;-3.24	5.41	5.41	0.78517	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.000000	0.85682	D	0.000000	D	0.98134	0.9384	H	0.97682	4.055	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99222	1.0879	10	0.87932	D	0	.	19.1488	0.93479	0.0:1.0:0.0:0.0	.	201;227;102	B4DV19;P15882;P15882-2	.;CHIN_HUMAN;.	C	227;102;43;201;2;2;45;53;102	ENSP00000386741:W227C;ENSP00000295497:W102C;ENSP00000386469:W43C;ENSP00000386470:W201C;ENSP00000386322:W2C;ENSP00000411911:W2C;ENSP00000410496:W45C;ENSP00000409798:W53C;ENSP00000392603:W102C	ENSP00000295497:W102C	W	-	3	0	CHN1	175397439	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.426000	0.80270	2.688000	0.91661	0.655000	0.94253	TGG		0.463	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334453.1	NM_001822		7	11	1	0	0.000274275	1	0.000284542	7	11				
ZNF586	54807	broad.mit.edu	37	19	58290907	58290907	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr19:58290907G>A	ENST00000396154.2	+	3	1125	c.952G>A	c.(952-954)Gag>Aag	p.E318K	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000396150.4_3'UTR|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000391702.3_Missense_Mutation_p.E275K|ZNF586_ENST00000598885.1_Intron	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	318					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGAAAGGCATGAGTGCGGGCA	0.453																																						ENST00000391702.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15						c.(823-825)Gag>Aag		zinc finger protein 586							74.0	79.0	77.0					19																	58290907		2200	4299	6499	SO:0001583	missense	54807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58290907G>A	AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"""Zinc fingers, C2H2-type"", ""-"""	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000396154.2:c.952G>A	19.37:g.58290907G>A	ENSP00000379458:p.Glu318Lys					ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000396150.4_3'UTR|ZNF586_ENST00000396154.2_Missense_Mutation_p.E318K	p.E275K	NM_001204814.1	NP_001191743.1	Q9NXT0	ZN586_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1190	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	318					A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Missense_Mutation	SNP	ENST00000396154.2	37	c.823G>A	CCDS42640.1	.	.	.	.	.	.	.	.	.	.	G	7.969	0.748681	0.15710	.	.	ENSG00000083828	ENST00000449441;ENST00000391702;ENST00000396154	T;T	0.06608	3.28;3.28	1.56	-0.875	0.10628	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02455	0.0075	N	0.04768	-0.165	0.09310	N	1	P	0.35923	0.528	B	0.36335	0.222	T	0.42310	-0.9459	9	0.21014	T	0.42	.	2.2526	0.04047	0.4757:0.0:0.282:0.2424	.	318	Q9NXT0	ZN586_HUMAN	K	318;275;318	ENSP00000375583:E275K;ENSP00000379458:E318K	ENSP00000375583:E275K	E	+	1	0	ZNF586	62982719	0.012000	0.17670	0.327000	0.25402	0.269000	0.26545	0.560000	0.23500	-0.025000	0.13918	0.591000	0.81541	GAG		0.453	ZNF586-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466825.2	NM_017652		29	48	0	0	0	1	0	29	48				
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			4	48	0	0	0	1	0	4	48				
FARSB	10056	broad.mit.edu	37	2	223436724	223436724	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr2:223436724C>T	ENST00000281828.6	-	17	1899	c.1636G>A	c.(1636-1638)Ggg>Agg	p.G546R	RP11-16P6.1_ENST00000568928.1_RNA|FARSB_ENST00000536361.1_Missense_Mutation_p.G447R	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	546					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	GCACATCGCCCGGGGAAGAAA	0.468																																						ENST00000281828.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(1636-1638)Ggg>Agg		phenylalanyl-tRNA synthetase, beta subunit	L-Phenylalanine(DB00120)						40.0	41.0	40.0					2																	223436724		2203	4300	6503	SO:0001583	missense	10056				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding	g.chr2:223436724C>T	AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	17800	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, beta, cytoplasmic"""	609690	"""phenylalanyl-tRNA synthetase-like, beta subunit"""	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.1636G>A	2.37:g.223436724C>T	ENSP00000281828:p.Gly546Arg					FARSB_ENST00000536361.1_Missense_Mutation_p.G447R	p.G546R	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	17	1899	-		Renal(207;0.0183)	546					B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Missense_Mutation	SNP	ENST00000281828.6	37	c.1636G>A	CCDS2454.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.990995	0.93106	.	.	ENSG00000116120	ENST00000281828;ENST00000536361	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.87382	0.6163	H	0.95365	3.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.67382	0.951;0.951	D	0.90944	0.4800	9	0.87932	D	0	-11.6953	19.3887	0.94570	0.0:1.0:0.0:0.0	.	546;546	A8K666;Q9NSD9	.;SYFB_HUMAN	R	546;447	.	ENSP00000281828:G546R	G	-	1	0	FARSB	223144968	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	7.347000	0.79356	2.571000	0.86741	0.655000	0.94253	GGG		0.468	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	NM_005687		14	25	0	0	0	1	0	14	25				
BRINP1	1620	broad.mit.edu	37	9	121929934	121929934	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr9:121929934A>T	ENST00000265922.3	-	8	2175	c.1714T>A	c.(1714-1716)Tcg>Acg	p.S572T	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	572					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											CAGCCCTCCGAATGGCTCCCG	0.562																																						ENST00000265922.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1714-1716)Tcg>Acg									43.0	44.0	43.0					9																	121929934		2203	4296	6499	SO:0001583	missense	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121929934A>T	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1714T>A	9.37:g.121929934A>T	ENSP00000265922:p.Ser572Thr					DBC1_ENST00000482797.1_Intron	p.S572T	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN			8	2175	-			572					Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.1714T>A	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	A	18.69	3.678205	0.68042	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.19532	2.14	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.41026	0.1141	M	0.61703	1.905	0.80722	D	1	P	0.49447	0.924	P	0.57776	0.827	T	0.22417	-1.0217	10	0.72032	D	0.01	-9.3865	15.8802	0.79197	1.0:0.0:0.0:0.0	.	572	O60477	DBC1_HUMAN	T	572	ENSP00000265922:S572T	ENSP00000265922:S572T	S	-	1	0	DBC1	120969755	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	9.243000	0.95416	2.145000	0.66743	0.533000	0.62120	TCG		0.562	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		29	46	0	0	0	1	0	29	46				
CANX	821	broad.mit.edu	37	5	179143227	179143227	+	Silent	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr5:179143227C>T	ENST00000247461.4	+	8	1043	c.843C>T	c.(841-843)gaC>gaT	p.D281D	CANX_ENST00000503126.1_3'UTR|CANX_ENST00000512607.2_Silent_p.D173D|CANX_ENST00000504734.1_Silent_p.D281D|CANX_ENST00000452673.2_Silent_p.D281D|CANX_ENST00000415618.2_Silent_p.D316D	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	281	4 X approximate repeats.|P domain (Extended arm). {ECO:0000250}.				aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	ACCCAGAAGACCGGAAGCCCG	0.463																																						ENST00000247461.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22						c.(841-843)gaC>gaT		calnexin	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)						88.0	90.0	89.0					5																	179143227		2203	4300	6503	SO:0001819	synonymous_variant	821				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding	g.chr5:179143227C>T	L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"""major histocompatibility complex class I antigen-binding protein p88"""	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.843C>T	5.37:g.179143227C>T						CANX_ENST00000503126.1_3'UTR|CANX_ENST00000452673.2_Silent_p.D281D|CANX_ENST00000504734.1_Silent_p.D281D|CANX_ENST00000512607.2_Silent_p.D173D|CANX_ENST00000415618.2_Silent_p.D316D	p.D281D	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1043	+	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	281			4 X approximate repeats.|P domain (Extended arm) (By similarity).		B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Silent	SNP	ENST00000247461.4	37	c.843C>T	CCDS4447.1																																																																																				0.463	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253500.2	NM_001024649		14	53	0	0	0	1	0	14	53				
TG	7038	broad.mit.edu	37	8	133925400	133925400	+	Missense_Mutation	SNP	G	G	A	rs146594373		TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr8:133925400G>A	ENST00000220616.4	+	20	4308	c.4268G>A	c.(4267-4269)cGc>cAc	p.R1423H	TG_ENST00000377869.1_Missense_Mutation_p.R1423H	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1423					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.R1423H(1)|p.R1423L(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAAACCATCCGCTTCCTCCAA	0.557																																						ENST00000220616.4																			2	Substitution - Missense(2)	p.R1423H(1)|p.R1423L(1)	large_intestine(1)|lung(1)	NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(4267-4269)cGc>cAc		thyroglobulin		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	109.0	89.0	96.0		4268	0.7	0.0	8	dbSNP_134	96	0,8600		0,0,4300	yes	missense	TG	NM_003235.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1423/2769	133925400	1,13005	2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133925400G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4268G>A	8.37:g.133925400G>A	ENSP00000220616:p.Arg1423His					TG_ENST00000377869.1_Missense_Mutation_p.R1423H	p.R1423H	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	20	4308	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1423					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.4268G>A	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	7.100	0.573976	0.13623	2.27E-4	0.0	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616	T;T	0.63580	-0.05;-0.05	5.81	0.696	0.18075	.	1.193210	0.05844	N	0.619874	T	0.41073	0.1143	N	0.08118	0	0.09310	N	1	B	0.15719	0.014	B	0.06405	0.002	T	0.19745	-1.0296	10	0.18710	T	0.47	.	10.2234	0.43212	0.2359:0.0:0.7641:0.0	.	1423	P01266	THYG_HUMAN	H	1423;229;1423	ENSP00000367100:R1423H;ENSP00000220616:R1423H	ENSP00000220616:R1423H	R	+	2	0	TG	133994582	0.000000	0.05858	0.004000	0.12327	0.800000	0.45204	-0.491000	0.06474	-0.160000	0.11002	0.650000	0.86243	CGC		0.557	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		18	40	0	0	0	1	0	18	40				
URI1	8725	broad.mit.edu	37	19	30500249	30500249	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr19:30500249G>C	ENST00000542441.2	+	8	1321	c.1024G>C	c.(1024-1026)Gag>Cag	p.E342Q	URI1_ENST00000392271.1_Missense_Mutation_p.E266Q|URI1_ENST00000360605.4_Missense_Mutation_p.E324Q|URI1_ENST00000312051.6_Missense_Mutation_p.E302Q			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	342					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)										ACATACTGTTGAGCCTAAGAG	0.323																																						ENST00000392271.1																			0											c.(796-798)Gag>Cag		URI1, prefoldin-like chaperone							80.0	73.0	75.0					19																	30500249		2203	4300	6503	SO:0001583	missense	8725				protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding	g.chr19:30500249G>C	AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	13236	protein-coding gene	gene with protein product	"""unconventional prefoldin RPB5 interactor"", ""RPB5-mediating protein"", ""protein phosphatase 1, regulatory subunit 19"""	603494	"""chromosome 19 open reading frame 2"""	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.1024G>C	19.37:g.30500249G>C	ENSP00000442436:p.Glu342Gln					URI1_ENST00000360605.4_Missense_Mutation_p.E324Q|URI1_ENST00000312051.6_Missense_Mutation_p.E302Q|URI1_ENST00000542441.2_Missense_Mutation_p.E342Q	p.E266Q	NM_003796.3	NP_003787.2	O94763	RMP_HUMAN			8	1321	+			342					A8K805|H7BY42|Q8TC23|Q9UNU3	Missense_Mutation	SNP	ENST00000542441.2	37	c.796G>C	CCDS12420.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712212	0.89112	.	.	ENSG00000105176	ENST00000360605;ENST00000392271;ENST00000542441;ENST00000312051	T	0.61040	0.14	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.75744	0.3891	M	0.67397	2.05	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.997;0.995	T	0.71377	-0.4611	10	0.35671	T	0.21	-29.4578	20.2267	0.98341	0.0:0.0:1.0:0.0	.	302;342;339	F8W9T0;O94763;Q8TC23	.;RMP_HUMAN;.	Q	340;266;342;302	ENSP00000442436:E342Q	ENSP00000312530:E302Q	E	+	1	0	C19orf2	35192089	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.174000	0.77620	2.791000	0.96007	0.491000	0.48974	GAG		0.323	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447		5	14	0	0	0	1	0	5	14				
EPHA5	2044	broad.mit.edu	37	4	66233087	66233087	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr4:66233087G>T	ENST00000273854.3	-	10	2512	c.1912C>A	c.(1912-1914)Cat>Aat	p.H638N	EPHA5_ENST00000432638.2_Missense_Mutation_p.H475N|EPHA5_ENST00000511294.1_Missense_Mutation_p.H639N|EPHA5_ENST00000354839.4_Missense_Mutation_p.H616N	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	638					axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.H638N(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGCCCATTATGAAAATGCATC	0.338										TSP Lung(17;0.13)																												ENST00000273854.3																			1	Substitution - Missense(1)	p.H638N(1)	large_intestine(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(1912-1914)Cat>Aat		EPH receptor A5							117.0	101.0	106.0					4																	66233087		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66233087G>T	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1912C>A	4.37:g.66233087G>T	ENSP00000273854:p.His638Asn	TSP Lung(17;0.13)				EPHA5_ENST00000511294.1_Missense_Mutation_p.H639N|EPHA5_ENST00000354839.4_Missense_Mutation_p.H616N|EPHA5_ENST00000432638.2_Missense_Mutation_p.H475N	p.H638N	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			10	2512	-			638					Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.1912C>A	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.290970	0.40494	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.09817	2.94;2.94;2.94;2.94	5.28	5.28	0.74379	.	0.000000	0.52532	D	0.000063	T	0.10937	0.0267	L	0.29908	0.895	0.49130	D	0.999757	B;B;B;P	0.36483	0.258;0.024;0.375;0.555	B;B;B;B	0.36922	0.119;0.009;0.236;0.22	T	0.19063	-1.0317	10	0.28530	T	0.3	.	18.5097	0.90911	0.0:0.0:1.0:0.0	.	617;639;616;638	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	N	638;475;616;639	ENSP00000273854:H638N;ENSP00000389208:H475N;ENSP00000346899:H616N;ENSP00000427638:H639N	ENSP00000273854:H638N	H	-	1	0	EPHA5	65915682	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.793000	0.99091	2.465000	0.83290	0.460000	0.39030	CAT		0.338	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		10	20	1	0	0.000673444	1	0.00069126	10	20				
CDC42EP4	23580	broad.mit.edu	37	17	71282441	71282441	+	Missense_Mutation	SNP	C	C	T	rs185165304		TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:71282441C>T	ENST00000335793.3	-	2	593	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	CDC42EP4_ENST00000581014.1_Intron|CDC42EP4_ENST00000439510.2_Intron			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	67					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			GAGGGCTGTTCGTCCAAGGAC	0.642																																						ENST00000335793.3																			0				cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14						c.(199-201)Gaa>Aaa		CDC42 effector protein (Rho GTPase binding) 4							58.0	57.0	58.0					17																	71282441		2203	4300	6503	SO:0001583	missense	23580				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding	g.chr17:71282441C>T	AB042237	CCDS11695.1	17q24-q25	2008-07-18				ENSG00000179604			17147	protein-coding gene	gene with protein product	"""Cdc42 effector protein 4"", ""binder of Rho GTPases 4"""	605468				11035016, 10490598	Standard	NM_012121		Approved	CEP4, KAIA1777, BORG4, MGC3740, MGC17125	uc002jjo.3	Q9H3Q1		ENST00000335793.3:c.199G>A	17.37:g.71282441C>T	ENSP00000338258:p.Glu67Lys					CDC42EP4_ENST00000581014.1_Intron|CDC42EP4_ENST00000439510.2_Intron	p.E67K			Q9H3Q1	BORG4_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)		2	593	-			67					B3KUS7|O95828|Q96FT3	Missense_Mutation	SNP	ENST00000335793.3	37	c.199G>A	CCDS11695.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.904064	0.33628	.	.	ENSG00000179604	ENST00000335793	D	0.85702	-2.02	4.95	4.95	0.65309	PAK-box/P21-Rho-binding (1);	0.488092	0.22576	N	0.058266	T	0.77691	0.4168	L	0.46157	1.445	0.37835	D	0.928861	B	0.19331	0.035	B	0.14023	0.01	T	0.71069	-0.4699	10	0.06625	T	0.88	-12.8365	12.7002	0.57026	0.1656:0.8344:0.0:0.0	.	67	Q9H3Q1	BORG4_HUMAN	K	67	ENSP00000338258:E67K	ENSP00000338258:E67K	E	-	1	0	CDC42EP4	68794036	0.702000	0.27816	0.910000	0.35882	0.186000	0.23388	2.135000	0.42112	2.296000	0.77279	0.585000	0.79938	GAA		0.642	CDC42EP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441898.1	NM_012121		32	74	0	0	0	1	0	32	74				
FBXW2	26190	broad.mit.edu	37	9	123540631	123540631	+	Missense_Mutation	SNP	G	G	A	rs368572383		TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr9:123540631G>A	ENST00000608872.1	-	4	870	c.683C>T	c.(682-684)gCg>gTg	p.A228V	FBXW2_ENST00000340778.5_Intron|FBXW2_ENST00000493559.1_5'Flank	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	228					cellular protein modification process (GO:0006464)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						CAACCCACCCGCCCCCGTGTG	0.488																																						ENST00000373926.3																			0				ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						c.(682-684)gCg>gTg		F-box and WD repeat domain containing 2		G	VAL/ALA	1,3655		0,1,1827	23.0	24.0	23.0		683	5.5	1.0	9		23	0,8140		0,0,4070	no	missense	FBXW2	NM_012164.3	64	0,1,5897	AA,AG,GG		0.0,0.0274,0.0085	probably-damaging	228/455	123540631	1,11795	1828	4070	5898	SO:0001583	missense	26190				proteolysis		protein binding|ubiquitin-protein ligase activity	g.chr9:123540631G>A	AF129531	CCDS43872.1	9q34	2013-01-09	2007-02-08		ENSG00000119402	ENSG00000119402		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13608	protein-coding gene	gene with protein product		609071	"""F-box and WD-40 domain protein 2"""			10531035, 10828603	Standard	NM_012164		Approved	FBW2, Md6, Fwd2	uc004bkm.1	Q9UKT8	OTTHUMG00000020576	ENST00000608872.1:c.683C>T	9.37:g.123540631G>A	ENSP00000476369:p.Ala228Val					FBXW2_ENST00000340778.5_Intron	p.A228V	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN			4	870	-			228					B3KRL8|Q4VXH2|Q7Z4V6|Q8WV51|Q9HA09|Q9UKA3	Missense_Mutation	SNP	ENST00000608872.1	37	c.683C>T	CCDS43872.1	.	.	.	.	.	.	.	.	.	.	G	36	5.638643	0.96693	2.74E-4	0.0	ENSG00000119402	ENST00000373926;ENST00000444833;ENST00000453291	T;T	0.61158	0.13;0.13	5.51	5.51	0.81932	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.69106	0.3074	L	0.41573	1.285	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79108	0.992;0.992	T	0.68830	-0.5305	10	0.52906	T	0.07	-5.4081	17.2728	0.87107	0.0:0.0:1.0:0.0	.	228;228	B2RAW3;Q9UKT8	.;FBXW2_HUMAN	V	228;228;99	ENSP00000363036:A228V;ENSP00000398662:A99V	ENSP00000363036:A228V	A	-	2	0	FBXW2	122580452	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.747000	0.98863	2.738000	0.93877	0.655000	0.94253	GCG		0.488	FBXW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053834.2			6	28	0	0	0	1	0	6	28				
OLFML2B	25903	broad.mit.edu	37	1	161954039	161954039	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:161954039G>A	ENST00000294794.3	-	8	2102	c.1679C>T	c.(1678-1680)cCg>cTg	p.P560L	OLFML2B_ENST00000367940.2_Missense_Mutation_p.P561L|OLFML2B_ENST00000367938.1_Missense_Mutation_p.P43L	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	560	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CCAGCTGTACGGGAGCTTGTA	0.572																																						ENST00000294794.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1678-1680)cCg>cTg		olfactomedin-like 2B							80.0	75.0	77.0					1																	161954039		2203	4300	6503	SO:0001583	missense	25903							g.chr1:161954039G>A	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1679C>T	1.37:g.161954039G>A	ENSP00000294794:p.Pro560Leu					OLFML2B_ENST00000367938.1_Missense_Mutation_p.P43L|OLFML2B_ENST00000367940.2_Missense_Mutation_p.P561L	p.P560L	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		8	2102	-	all_hematologic(112;0.156)		560			Olfactomedin-like.		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	c.1679C>T	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556732	0.86231	.	.	ENSG00000162745	ENST00000294794;ENST00000367940;ENST00000367938	D;D;D	0.91295	-2.82;-2.82;-2.82	5.17	5.17	0.71159	Olfactomedin-like (3);	.	.	.	.	D	0.95862	0.8653	M	0.91249	3.19	0.45318	D	0.998318	D;D	0.89917	1.0;0.999	D;D	0.76575	0.988;0.988	D	0.96673	0.9498	8	0.87932	D	0	.	16.1511	0.81624	0.0:0.0:1.0:0.0	.	561;560	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	L	560;561;43	ENSP00000294794:P560L;ENSP00000356917:P561L;ENSP00000356915:P43L	ENSP00000294794:P560L	P	-	2	0	OLFML2B	160220663	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	7.839000	0.86812	2.400000	0.81607	0.561000	0.74099	CCG		0.572	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		34	65	0	0	0	1	0	34	65				
NOP2	4839	broad.mit.edu	37	12	6672578	6672578	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr12:6672578G>A	ENST00000322166.5	-	8	912	c.791C>T	c.(790-792)tCt>tTt	p.S264F	NOP2_ENST00000537442.1_Missense_Mutation_p.S264F|NOP2_ENST00000545200.1_Missense_Mutation_p.S260F|NOP2_ENST00000399466.2_Missense_Mutation_p.S260F|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000541778.1_Missense_Mutation_p.S260F|NOP2_ENST00000382421.3_Missense_Mutation_p.S297F	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	264					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						CAGGTATTCAGAACGAGACCG	0.542											OREG0021630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000541778.1																			0				breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(778-780)tCt>tTt		NOP2 nucleolar protein							75.0	76.0	76.0					12																	6672578		1940	4143	6083	SO:0001583	missense	4839				positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr12:6672578G>A		CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"""NOP2/Sun domain containing"""	7867	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 1"""	164031	"""nucleolar protein 1 (120kD)"", ""nucleolar protein 1, 120kDa"", ""nucleolar protein 2 homolog (yeast)"", ""NOP2 nucleolar protein homolog (yeast)"""	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.791C>T	12.37:g.6672578G>A	ENSP00000313272:p.Ser264Phe		OREG0021630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	635	NOP2_ENST00000322166.5_Missense_Mutation_p.S264F|NOP2_ENST00000399466.2_Missense_Mutation_p.S260F|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000382421.3_Missense_Mutation_p.S297F|NOP2_ENST00000545200.1_Missense_Mutation_p.S260F|NOP2_ENST00000537442.1_Missense_Mutation_p.S264F	p.S260F			P46087	NOP2_HUMAN			8	1267	-			264					A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	ENST00000322166.5	37	c.779C>T	CCDS58203.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.005824	0.54254	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778;ENST00000542944	T;T;T;T;T;T;T	0.48201	2.4;2.42;2.43;2.4;2.4;2.4;0.82	5.19	5.19	0.71726	.	1.209700	0.05601	N	0.576322	T	0.66247	0.2770	M	0.84082	2.675	0.20563	N	0.999886	P	0.41131	0.739	P	0.49276	0.605	T	0.56463	-0.7975	10	0.66056	D	0.02	-1.1433	11.9695	0.53055	0.0:0.0:0.7038:0.2962	.	260	P46087-2	.	F	264;297;260;260;264;260;140	ENSP00000444437:S264F;ENSP00000371858:S297F;ENSP00000439422:S260F;ENSP00000382392:S260F;ENSP00000313272:S264F;ENSP00000443150:S260F;ENSP00000440754:S140F	ENSP00000313272:S264F	S	-	2	0	NOP2	6542839	0.016000	0.18221	0.035000	0.18076	0.993000	0.82548	1.893000	0.39758	2.436000	0.82500	0.561000	0.74099	TCT		0.542	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1	NM_006170		9	7	0	0	0	1	0	9	7				
FAM188B	84182	broad.mit.edu	37	7	30825451	30825451	+	Missense_Mutation	SNP	C	C	T	rs111491161	byFrequency	TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr7:30825451C>T	ENST00000265299.6	+	4	583	c.506C>T	c.(505-507)cCg>cTg	p.P169L	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	169								p.P169L(1)|p.P169Q(1)		endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGACGGTCCCGGGTGAAACT	0.473													C|||	5	0.000998403	0.0	0.0	5008	,	,		19374	0.0		0.0	False		,,,				2504	0.0051					ENST00000265299.6																			2	Substitution - Missense(2)	p.P169L(1)|p.P169Q(1)	large_intestine(1)|lung(1)	endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(505-507)cCg>cTg		family with sequence similarity 188, member B		C	LEU/PRO	0,3748		0,0,1874	104.0	108.0	107.0		506	3.4	0.0	7	dbSNP_132	107	3,8229		0,3,4113	yes	missense	FAM188B	NM_032222.2	98	0,3,5987	TT,TC,CC		0.0364,0.0,0.025	benign	169/758	30825451	3,11977	1874	4116	5990	SO:0001583	missense	84182							g.chr7:30825451C>T	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.506C>T	7.37:g.30825451C>T	ENSP00000265299:p.Pro169Leu					INMT-FAM188B_ENST00000458257.1_3'UTR	p.P169L	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN			4	583	+			169					Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	c.506C>T	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	C	1.198	-0.633358	0.03584	0.0	3.64E-4	ENSG00000106125	ENST00000265299	T	0.22336	1.96	5.19	3.36	0.38483	.	1.198200	0.05747	N	0.602442	T	0.11410	0.0278	N	0.04043	-0.29	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.24799	-1.0150	10	0.87932	D	0	0.0788	5.8434	0.18647	0.1905:0.7113:0.0:0.0983	.	169	Q4G0A6	F188B_HUMAN	L	169	ENSP00000265299:P169L	ENSP00000265299:P169L	P	+	2	0	FAM188B	30791976	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.078000	0.14761	0.749000	0.32854	0.650000	0.86243	CCG		0.473	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		30	140	0	0	0	1	0	30	140				
WWC2	80014	broad.mit.edu	37	4	184182526	184182526	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr4:184182526G>A	ENST00000403733.3	+	11	1949	c.1750G>A	c.(1750-1752)Gac>Aac	p.D584N	WWC2_ENST00000378925.3_Missense_Mutation_p.D486N|WWC2_ENST00000504005.1_Missense_Mutation_p.D266N|WWC2_ENST00000448232.2_Missense_Mutation_p.D584N|WWC2_ENST00000513834.1_Missense_Mutation_p.D584N	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	584					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		GTTCACTGCTGACTTTGAAGA	0.483																																						ENST00000403733.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32						c.(1750-1752)Gac>Aac		WW and C2 domain containing 2							79.0	60.0	66.0					4																	184182526		2203	4300	6503	SO:0001583	missense	80014							g.chr4:184182526G>A	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.1750G>A	4.37:g.184182526G>A	ENSP00000384222:p.Asp584Asn					WWC2_ENST00000378925.3_Missense_Mutation_p.D486N|WWC2_ENST00000513834.1_Missense_Mutation_p.D584N|WWC2_ENST00000448232.2_Missense_Mutation_p.D584N|WWC2_ENST00000504005.1_Missense_Mutation_p.D266N	p.D584N	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	11	1949	+		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	584					Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	ENST00000403733.3	37	c.1750G>A	CCDS34109.2	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892396	0.72524	.	.	ENSG00000151718	ENST00000403733;ENST00000378925;ENST00000513834;ENST00000448232;ENST00000504005	T;T;T;T;T	0.18657	2.21;2.21;2.2;2.21;2.21	5.07	5.07	0.68467	.	0.068846	0.64402	D	0.000012	T	0.46132	0.1377	M	0.66939	2.045	0.44966	D	0.997987	P;D	0.71674	0.868;0.998	B;D	0.81914	0.383;0.995	T	0.24835	-1.0149	10	0.40728	T	0.16	-30.0723	18.643	0.91401	0.0:0.0:1.0:0.0	.	584;584	Q6AWC2;Q6AWC2-4	WWC2_HUMAN;.	N	584;486;584;584;266	ENSP00000384222:D584N;ENSP00000368205:D486N;ENSP00000425054:D584N;ENSP00000398577:D584N;ENSP00000427569:D266N	ENSP00000368205:D486N	D	+	1	0	WWC2	184419520	1.000000	0.71417	0.981000	0.43875	0.966000	0.64601	5.770000	0.68873	2.638000	0.89438	0.650000	0.86243	GAC		0.483	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949		6	16	0	0	0	1	0	6	16				
TBC1D4	9882	broad.mit.edu	37	13	75923344	75923344	+	Missense_Mutation	SNP	G	G	C	rs375499221	byFrequency	TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr13:75923344G>C	ENST00000377636.3	-	5	1716	c.1370C>G	c.(1369-1371)cCg>cGg	p.P457R	TBC1D4_ENST00000377625.2_Missense_Mutation_p.P457R|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.P457R	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	457	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.P457R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		AGAGTGCATCGGGCAGGCCTC	0.478																																						ENST00000377636.3																			1	Substitution - Missense(1)	p.P457R(1)	breast(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1369-1371)cCg>cGg		TBC1 domain family, member 4							69.0	69.0	69.0					13																	75923344		1931	4129	6060	SO:0001583	missense	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75923344G>C	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.1370C>G	13.37:g.75923344G>C	ENSP00000366863:p.Pro457Arg					TBC1D4_ENST00000377625.2_Missense_Mutation_p.P457R|TBC1D4_ENST00000431480.2_Missense_Mutation_p.P457R|TBC1D4_ENST00000425511.1_5'UTR	p.P457R	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	5	1716	-		Prostate(6;0.014)|Breast(118;0.0982)	457			PID 2.		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	c.1370C>G	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025993	0.93518	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625	T;T;T	0.19669	2.2;2.13;2.26	6.04	6.04	0.98038	.	0.000000	0.64402	D	0.000001	T	0.52125	0.1715	M	0.77486	2.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.50750	-0.8791	10	0.87932	D	0	-22.5512	20.5875	0.99426	0.0:0.0:1.0:0.0	.	457;457;457	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	R	457	ENSP00000366863:P457R;ENSP00000395986:P457R;ENSP00000366852:P457R	ENSP00000366852:P457R	P	-	2	0	TBC1D4	74821345	1.000000	0.71417	0.979000	0.43373	0.955000	0.61496	9.326000	0.96389	2.861000	0.98227	0.643000	0.83706	CCG		0.478	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		15	39	0	0	0	1	0	15	39				
PIGV	55650	broad.mit.edu	37	1	27121446	27121446	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:27121446C>G	ENST00000374145.1	+	3	1603	c.921C>G	c.(919-921)atC>atG	p.I307M	PIGV_ENST00000078527.4_Missense_Mutation_p.I307M|PIGV_ENST00000449950.2_Missense_Mutation_p.I79M	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	307					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		ACAGCTATATCCAGGATGTCT	0.478																																						ENST00000374145.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14						c.(919-921)atC>atG		phosphatidylinositol glycan anchor biosynthesis, class V							221.0	233.0	229.0					1																	27121446		2203	4300	6503	SO:0001583	missense	55650				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity	g.chr1:27121446C>G	AK000484	CCDS287.1	1p36.11	2013-02-26	2006-06-28		ENSG00000060642	ENSG00000060642		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	26031	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 2"", ""dol-P-Man dependent GPI mannosyltransferase"""	610274	"""phosphatidylinositol glycan, class V"""			15623507	Standard	NM_017837		Approved	FLJ20477	uc001bmz.3	Q9NUD9	OTTHUMG00000004005	ENST00000374145.1:c.921C>G	1.37:g.27121446C>G	ENSP00000363260:p.Ile307Met					PIGV_ENST00000449950.2_Missense_Mutation_p.I79M|PIGV_ENST00000078527.4_Missense_Mutation_p.I307M	p.I307M	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)	3	1603	+		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	307					D3DPL2|Q5JYG7|Q5JYG8|Q5JYG9|Q9NX26	Missense_Mutation	SNP	ENST00000374145.1	37	c.921C>G	CCDS287.1	.	.	.	.	.	.	.	.	.	.	c	14.56	2.572769	0.45798	.	.	ENSG00000060642	ENST00000078527;ENST00000449950;ENST00000374145	D;D;D	0.87334	-2.24;-2.24;-2.24	5.47	1.38	0.22167	.	0.054548	0.64402	D	0.000001	D	0.90813	0.7115	M	0.80183	2.485	0.80722	D	1	D;D	0.71674	0.983;0.998	D;D	0.72625	0.951;0.978	D	0.86843	0.2018	10	0.59425	D	0.04	-9.1447	4.0361	0.09730	0.366:0.3658:0.0:0.2682	.	307;79	Q9NUD9;B4DWP9	PIGV_HUMAN;.	M	307;79;307	ENSP00000078527:I307M;ENSP00000395156:I79M;ENSP00000363260:I307M	ENSP00000078527:I307M	I	+	3	3	PIGV	26994033	0.942000	0.31987	0.996000	0.52242	0.974000	0.67602	0.138000	0.16016	0.003000	0.14656	-0.532000	0.04303	ATC		0.478	PIGV-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011441.1	NM_017837		83	212	0	0	0	1	0	83	212				
KLK3	354	broad.mit.edu	37	19	51359642	51359642	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr19:51359642C>A	ENST00000326003.2	+	2	234	c.193C>A	c.(193-195)Cac>Aac	p.H65N	KLK3_ENST00000360617.3_Missense_Mutation_p.H65N|KLK3_ENST00000595952.1_Missense_Mutation_p.H65N|KLK3_ENST00000593997.1_Missense_Mutation_p.H65N|KLK3_ENST00000597483.1_Missense_Mutation_p.H65N	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	65	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CACAGCTGCCCACTGCATCAG	0.612																																					Colon(185;1767 2023 13025 30120 37630)	ENST00000360617.3																			0				breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(193-195)Cac>Aac		kallikrein-related peptidase 3							73.0	74.0	74.0					19																	51359642		2203	4300	6503	SO:0001583	missense	354				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51359642C>A	X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"""Kallikreins"""	6364	protein-coding gene	gene with protein product		176820	"""kallikrein 3, (prostate specific antigen)"""	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.193C>A	19.37:g.51359642C>A	ENSP00000314151:p.His65Asn					KLK3_ENST00000597483.1_Missense_Mutation_p.H65N|KLK3_ENST00000593997.1_Missense_Mutation_p.H65N|KLK3_ENST00000326003.2_Missense_Mutation_p.H65N|KLK3_ENST00000595952.1_Missense_Mutation_p.H65N	p.H65N			P07288	KLK3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)	2	193	+		all_neural(266;0.057)	65			Peptidase S1.		C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Missense_Mutation	SNP	ENST00000326003.2	37	c.193C>A	CCDS12807.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.907777	0.33721	.	.	ENSG00000142515	ENST00000326003;ENST00000422986;ENST00000360617;ENST00000435152;ENST00000326052	D;D;D	0.95482	-3.72;-3.72;-3.72	2.91	1.81	0.25067	.	0.000000	0.33813	N	0.004537	D	0.97974	0.9333	H	0.95260	3.645	0.45883	D	0.998738	D;D;D;D	0.89917	0.965;0.969;0.996;1.0	D;D;P;D	0.97110	0.914;0.936;0.903;1.0	D	0.97314	0.9939	10	0.87932	D	0	.	9.5003	0.39013	0.0:0.7805:0.2195:0.0	.	65;65;65;65	Q8NCW4;G3XAE3;G3V0H4;C9JXH3	.;.;.;.	N	65	ENSP00000314151:H65N;ENSP00000393628:H65N;ENSP00000353829:H65N	ENSP00000314151:H65N	H	+	1	0	KLK3	56051454	0.989000	0.36119	0.964000	0.40570	0.132000	0.20833	2.176000	0.42500	0.518000	0.28383	0.436000	0.28706	CAC		0.612	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464067.1	NM_145864		30	86	1	0	3.65163e-15	1	4.16715e-15	30	86				
SDHAP1	255812	broad.mit.edu	37	3	195711423	195711423	+	RNA	SNP	A	A	G	rs201502468		TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr3:195711423A>G	ENST00000427841.1	-	0	524					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		CTCTTGTACTAGAAACAGACC	0.552																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			255812							g.chr3:195711423A>G	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195711423A>G								NR_003264.2						0	524	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.552	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			6	39	0	0	0	1	0	6	39				
UNC5B	219699	broad.mit.edu	37	10	73039678	73039678	+	Silent	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr10:73039678G>A	ENST00000335350.6	+	2	596	c.180G>A	c.(178-180)gtG>gtA	p.V60V	UNC5B_ENST00000373192.4_Silent_p.V60V	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	60	Ig-like.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CCTACATTGTGAAGAACAAGC	0.622																																						ENST00000335350.6																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.(178-180)gtG>gtA		unc-5 homolog B (C. elegans)							72.0	69.0	70.0					10																	73039678		2203	4300	6503	SO:0001819	synonymous_variant	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73039678G>A	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.180G>A	10.37:g.73039678G>A						UNC5B_ENST00000373192.4_Silent_p.V60V	p.V60V	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN			2	596	+			60			Ig-like.		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Silent	SNP	ENST00000335350.6	37	c.180G>A	CCDS7309.1																																																																																				0.622	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		41	88	0	0	0	1	0	41	88				
OR8B12	219858	broad.mit.edu	37	11	124413189	124413189	+	Missense_Mutation	SNP	C	C	T	rs369152224		TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr11:124413189C>T	ENST00000306842.2	-	1	386	c.362G>A	c.(361-363)cGc>cAc	p.R121H		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GGCCACGTAGCGGTCATACGC	0.502																																						ENST00000306842.2																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(361-363)cGc>cAc		olfactory receptor, family 8, subfamily B, member 12		C	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	97.0	85.0	89.0		362	3.0	1.0	11		89	0,8598		0,0,4299	no	missense	OR8B12	NM_001005195.1	29	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	121/311	124413189	1,12999	2201	4299	6500	SO:0001583	missense	219858				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124413189C>T		CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"""GPCR / Class A : Olfactory receptors"""	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.362G>A	11.37:g.124413189C>T	ENSP00000307159:p.Arg121His						p.R121H	NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)	1	386	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	121					B2RNF6|Q6IEW8|Q96RC7	Missense_Mutation	SNP	ENST00000306842.2	37	c.362G>A	CCDS31711.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392891	0.62066	2.27E-4	0.0	ENSG00000170953	ENST00000306842	T	0.77489	-1.1	3.89	2.96	0.34315	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000024	D	0.84138	0.5406	M	0.71871	2.18	0.39888	D	0.973737	D	0.76494	0.999	P	0.62435	0.902	D	0.86343	0.1706	10	0.87932	D	0	.	11.6445	0.51253	0.0:0.9073:0.0:0.0927	.	121	Q8NGG6	OR8BC_HUMAN	H	121	ENSP00000307159:R121H	ENSP00000307159:R121H	R	-	2	0	OR8B12	123918399	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	4.628000	0.61282	1.200000	0.43188	0.650000	0.86243	CGC		0.502	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1			23	51	0	0	0	1	0	23	51				
RBFOX1	54715	broad.mit.edu	37	16	7568329	7568329	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr16:7568329C>A	ENST00000550418.1	+	5	1196	c.208C>A	c.(208-210)Cag>Aag	p.Q70K	RBFOX1_ENST00000422070.4_Missense_Mutation_p.Q113K|RBFOX1_ENST00000355637.4_Missense_Mutation_p.Q90K|RBFOX1_ENST00000311745.5_Missense_Mutation_p.Q90K|RBFOX1_ENST00000553186.1_Missense_Mutation_p.Q70K|RBFOX1_ENST00000547372.1_Missense_Mutation_p.Q113K|RBFOX1_ENST00000547338.1_Missense_Mutation_p.Q70K|RBFOX1_ENST00000552089.1_Missense_Mutation_p.Q106K|RBFOX1_ENST00000436368.2_Missense_Mutation_p.Q90K|RBFOX1_ENST00000340209.4_Missense_Mutation_p.Q75K|RBFOX1_ENST00000535565.2_Missense_Mutation_p.Q106K	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	70					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CCCTCCCGCCCAGACGCACTC	0.642																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(223-225)Cag>Aag		RNA binding protein, fox-1 homolog (C. elegans) 1							114.0	108.0	110.0					16																	7568329		2197	4300	6497	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7568329C>A	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.208C>A	16.37:g.7568329C>A	ENSP00000450031:p.Gln70Lys					RBFOX1_ENST00000436368.2_Missense_Mutation_p.Q90K|RBFOX1_ENST00000552089.1_Missense_Mutation_p.Q106K|RBFOX1_ENST00000422070.4_Missense_Mutation_p.Q113K|RBFOX1_ENST00000550418.1_Missense_Mutation_p.Q70K|RBFOX1_ENST00000311745.5_Missense_Mutation_p.Q90K|RBFOX1_ENST00000553186.1_Missense_Mutation_p.Q70K|RBFOX1_ENST00000547338.1_Missense_Mutation_p.Q70K|RBFOX1_ENST00000355637.4_Missense_Mutation_p.Q90K|RBFOX1_ENST00000535565.2_Missense_Mutation_p.Q106K|RBFOX1_ENST00000547372.1_Missense_Mutation_p.Q113K	p.Q75K			Q9NWB1	RFOX1_HUMAN			2	520	+			70					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.223C>A	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	C	32	5.173498	0.94807	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T	0.34859	1.78;1.35;1.71;1.6;1.6;1.72;1.35;1.47;1.63;1.61;1.34	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.59376	0.2189	M	0.65498	2.005	0.58432	D	0.999998	D;D;D;D;D;P;P;P;D	0.60575	0.986;0.982;0.987;0.988;0.982;0.934;0.938;0.939;0.967	D;D;D;D;D;D;P;P;P	0.75020	0.979;0.968;0.943;0.985;0.918;0.937;0.81;0.83;0.888	T	0.64558	-0.6379	10	0.72032	D	0.01	-5.8338	17.5929	0.88003	0.0:1.0:0.0:0.0	.	90;106;113;90;90;90;70;70;113	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;.;RFOX1_HUMAN;.	K	70;70;70;113;113;106;106;70;70;90;90;90;90;75	ENSP00000450402:Q70K;ENSP00000450031:Q70K;ENSP00000447753:Q70K;ENSP00000446842:Q113K;ENSP00000391269:Q113K;ENSP00000447281:Q70K;ENSP00000447717:Q70K;ENSP00000402745:Q90K;ENSP00000309117:Q90K;ENSP00000347855:Q90K;ENSP00000344196:Q75K	ENSP00000309117:Q90K	Q	+	1	0	RBFOX1	7508330	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.042000	0.76565	2.129000	0.65627	0.557000	0.71058	CAG		0.642	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		50	154	1	0	3.88204e-17	1	4.48283e-17	50	154				
KEAP1	9817	broad.mit.edu	37	19	10600019	10600019	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr19:10600019G>C	ENST00000171111.5	-	5	2104	c.1557C>G	c.(1555-1557)atC>atG	p.I519M	KEAP1_ENST00000393623.2_Missense_Mutation_p.I519M|CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000588024.1_5'Flank	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	519					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	CAGCAGCATAGATACAGTTGT	0.577																																						ENST00000171111.5																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92						c.(1555-1557)atC>atG		kelch-like ECH-associated protein 1							66.0	51.0	56.0					19																	10600019		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10600019G>C	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1557C>G	19.37:g.10600019G>C	ENSP00000171111:p.Ile519Met					KEAP1_ENST00000393623.2_Missense_Mutation_p.I519M	p.I519M	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		5	2104	-			519					B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.1557C>G	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653282	0.47362	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	D;D	0.85171	-1.95;-1.95	5.73	1.1	0.20463	Kelch-type beta propeller (1);	0.259629	0.39985	N	0.001203	D	0.89667	0.6781	M	0.86953	2.85	0.44366	D	0.997269	D	0.56968	0.978	P	0.62560	0.904	D	0.86114	0.1564	10	0.45353	T	0.12	.	5.2695	0.15617	0.2373:0.2653:0.4974:0.0	.	519	Q14145	KEAP1_HUMAN	M	519	ENSP00000171111:I519M;ENSP00000377245:I519M	ENSP00000171111:I519M	I	-	3	3	KEAP1	10461019	1.000000	0.71417	0.928000	0.36995	0.371000	0.29859	1.902000	0.39848	0.374000	0.24650	0.585000	0.79938	ATC		0.577	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		9	42	0	0	0	1	0	9	42				
DMXL2	23312	broad.mit.edu	37	15	51741298	51741298	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr15:51741298C>T	ENST00000251076.5	-	43	9281	c.8994G>A	c.(8992-8994)atG>atA	p.M2998I	DMXL2_ENST00000543779.2_Missense_Mutation_p.M2999I|DMXL2_ENST00000449909.3_Missense_Mutation_p.M2362I|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2998						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGTCAATCTGCATGACTCCAG	0.458																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(8992-8994)atG>atA		Dmx-like 2							130.0	107.0	115.0					15																	51741298		2196	4293	6489	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51741298C>T	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.8994G>A	15.37:g.51741298C>T	ENSP00000251076:p.Met2998Ile					DMXL2_ENST00000449909.3_Missense_Mutation_p.M2362I|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.M2999I	p.M2998I	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	43	9281	-			2998					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.8994G>A	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.648225	0.47258	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909;ENST00000436119	T;T;T	0.01258	5.09;5.09;5.09	5.6	3.69	0.42338	WD40 repeat-like-containing domain (1);	0.085387	0.85682	D	0.000000	T	0.02012	0.0063	M	0.65498	2.005	0.41327	D	0.987216	B;B;B;B	0.30973	0.007;0.302;0.007;0.002	B;B;B;B	0.20577	0.018;0.03;0.014;0.004	T	0.51926	-0.8643	10	0.51188	T	0.08	.	8.5213	0.33277	0.0:0.7154:0.1382:0.1464	.	2999;2362;2998;2999	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	I	2998;2999;2362;564	ENSP00000251076:M2998I;ENSP00000441858:M2999I;ENSP00000400855:M2362I	ENSP00000251076:M2998I	M	-	3	0	DMXL2	49528590	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.076000	0.41548	1.492000	0.48499	0.563000	0.77884	ATG		0.458	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		22	99	0	0	0	1	0	22	99				
MSH5	4439	broad.mit.edu	37	6	31729648	31729648	+	Silent	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr6:31729648C>T	ENST00000375755.3	+	23	2521	c.2235C>T	c.(2233-2235)tgC>tgT	p.C745C	MSH5-SAPCD1_ENST00000491552.1_Intron|MSH5_ENST00000375740.3_Intron|MSH5_ENST00000375742.3_Silent_p.C762C|MSH5_ENST00000375703.3_Silent_p.C746C|SAPCD1-AS1_ENST00000419679.1_RNA|MSH5_ENST00000431848.2_Silent_p.C444C|MSH5_ENST00000375750.3_Silent_p.C745C|MSH5_ENST00000534153.4_Silent_p.C762C|SAPCD1_ENST00000415669.2_5'Flank|MSH5-SAPCD1_ENST00000493662.2_Silent_p.C762C|SAPCD1_ENST00000425424.1_5'Flank|MSH5_ENST00000395853.1_Silent_p.C419C	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	745					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						ATCAGGTTTGCGAAGGTGTTG	0.507								Direct reversal of damage;Mismatch excision repair (MMR)																														ENST00000493662.2																			0											c.(2284-2286)tgC>tgT									150.0	160.0	157.0					6																	31729648		1510	2709	4219	SO:0001819	synonymous_variant	100532732							g.chr6:31729648C>T	AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"""mutS (E. coli) homolog 5"", ""mutS homolog 5 (E. coli)"""			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.2235C>T	6.37:g.31729648C>T						MSH5_ENST00000431848.2_Silent_p.C444C|MSH5_ENST00000375755.3_Silent_p.C745C|MSH5_ENST00000375740.3_Intron|MSH5_ENST00000395853.1_Silent_p.C419C|MSH5_ENST00000375742.3_Silent_p.C762C|MSH5_ENST00000375750.3_Silent_p.C745C|MSH5_ENST00000375703.3_Silent_p.C746C|MSH5_ENST00000534153.4_Silent_p.C762C|MSH5-SAPCD1_ENST00000491552.1_Intron	p.C762C							23	2342	+								B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Silent	SNP	ENST00000375755.3	37	c.2286C>T	CCDS4720.1																																																																																				0.507	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4			51	89	0	0	0	1	0	51	89				
TYW1	55253	broad.mit.edu	37	7	66479369	66479369	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr7:66479369G>T	ENST00000359626.5	+	5	555	c.391G>T	c.(391-393)Gtc>Ttc	p.V131F		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	131	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				TAGTAAAAATGTCTGTGTCTT	0.383																																						ENST00000359626.5																			0				breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(391-393)Gtc>Ttc		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)							74.0	68.0	70.0					7																	66479369		2203	4298	6501	SO:0001583	missense	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66479369G>T	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.391G>T	7.37:g.66479369G>T	ENSP00000352645:p.Val131Phe						p.V131F	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			5	555	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	131			Flavodoxin-like.		Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	37	c.391G>T	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084441	0.36758	.	.	ENSG00000198874	ENST00000359626	T	0.73363	-0.74	4.8	1.79	0.24919	Flavodoxin/nitric oxide synthase (2);	0.256767	0.32593	U	0.005886	T	0.60958	0.2309	L	0.41079	1.255	0.44454	D	0.997385	B	0.29716	0.255	B	0.34242	0.178	T	0.45877	-0.9231	10	0.16896	T	0.51	.	6.9945	0.24774	0.1758:0.1442:0.6801:0.0	.	131	Q9NV66	TYW1_HUMAN	F	131	ENSP00000352645:V131F	ENSP00000352645:V131F	V	+	1	0	TYW1	66116804	0.215000	0.23574	0.231000	0.23993	0.116000	0.19942	0.587000	0.23909	0.567000	0.29293	0.456000	0.33151	GTC		0.383	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		12	53	1	0	0.00136819	1	0.001397	12	53				
ITGA5	3678	broad.mit.edu	37	12	54797556	54797556	+	Silent	SNP	T	T	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr12:54797556T>C	ENST00000293379.4	-	17	1890	c.1629A>G	c.(1627-1629)acA>acG	p.T543T	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	543					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GAAGTTCCACTGTGAAACCTG	0.557																																						ENST00000293379.4																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						c.(1627-1629)acA>acG		integrin, alpha 5 (fibronectin receptor, alpha polypeptide)							80.0	74.0	76.0					12																	54797556		2203	4300	6503	SO:0001819	synonymous_variant	3678				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54797556T>C		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.1629A>G	12.37:g.54797556T>C						RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	p.T543T	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN			17	1890	-			543					Q96HA5	Silent	SNP	ENST00000293379.4	37	c.1629A>G	CCDS8880.1																																																																																				0.557	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			28	62	0	0	0	1	0	28	62				
PKHD1L1	93035	broad.mit.edu	37	8	110422190	110422190	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr8:110422190G>T	ENST00000378402.5	+	19	2172	c.2068G>T	c.(2068-2070)Gaa>Taa	p.E690*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	690					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)			CAGAGACTATGAAACTGATTT	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.(2068-2070)Gaa>Taa		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							47.0	45.0	46.0					8																	110422190		1797	4056	5853	SO:0001587	stop_gained	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110422190G>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.2068G>T	8.37:g.110422190G>T	ENSP00000367655:p.Glu690*	HNSCC(38;0.096)					p.E690*	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		19	2172	+			690					Q567P2|Q9UF27	Nonsense_Mutation	SNP	ENST00000378402.5	37	c.2068G>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	41	8.642593	0.98897	.	.	ENSG00000205038	ENST00000378402	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.3732	0.90420	0.0:0.0:1.0:0.0	.	.	.	.	X	690	.	ENSP00000367655:E690X	E	+	1	0	PKHD1L1	110491366	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.060000	0.71141	2.941000	0.99782	0.655000	0.94253	GAA		0.294	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		5	6	1	0	0.000602214	1	0.000621434	5	6				
DND1	373863	broad.mit.edu	37	5	140052314	140052314	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr5:140052314G>A	ENST00000542735.1	-	3	363	c.320C>T	c.(319-321)tCg>tTg	p.S107L		NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	107	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of gene silencing by miRNA (GO:0060965)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGCGCCTCGAGCTGTAGCG	0.687																																						ENST00000542735.1																			0				central_nervous_system(1)|prostate(4)	5						c.(319-321)tCg>tTg		DND microRNA-mediated repression inhibitor 1							8.0	10.0	10.0					5																	140052314		2164	4261	6425	SO:0001583	missense	373863				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding	g.chr5:140052314G>A	AY321065	CCDS4236.1	5q31.3	2013-07-31	2013-07-31		ENSG00000256453	ENSG00000256453		"""RNA binding motif (RRM) containing"""	23799	protein-coding gene	gene with protein product		609385	"""dead end homolog 1 (zebrafish)"""			12932328	Standard	NM_194249		Approved	MGC34750, RBMS4	uc003lgt.3	Q8IYX4	OTTHUMG00000129499	ENST00000542735.1:c.320C>T	5.37:g.140052314G>A	ENSP00000445366:p.Ser107Leu						p.S107L	NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	363	-			107			RRM 1.			Missense_Mutation	SNP	ENST00000542735.1	37	c.320C>T	CCDS4236.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192275	0.78902	.	.	ENSG00000256453	ENST00000542735	T	0.07800	3.16	5.71	5.71	0.89125	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.317725	0.26532	N	0.023854	T	0.22898	0.0553	M	0.77406	2.37	0.33258	D	0.559339	D	0.67145	0.996	P	0.55222	0.771	T	0.29027	-1.0025	10	0.72032	D	0.01	-14.9246	12.6839	0.56936	0.0:0.0:0.7294:0.2706	.	107	Q8IYX4	DND1_HUMAN	L	107	ENSP00000445366:S107L	ENSP00000445366:S107L	S	-	2	0	DND1	140032498	0.882000	0.30256	1.000000	0.80357	0.450000	0.32258	1.129000	0.31381	2.700000	0.92200	0.460000	0.39030	TCG		0.687	DND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251669.2	NM_194249		8	17	0	0	0	1	0	8	17				
ATP13A5	344905	broad.mit.edu	37	3	193039614	193039614	+	Missense_Mutation	SNP	C	C	A	rs374086408		TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr3:193039614C>A	ENST00000342358.4	-	16	1888	c.1771G>T	c.(1771-1773)Gcc>Tcc	p.A591S		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	591						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GTGATGATGGCTTCCACTGGA	0.473																																						ENST00000342358.4																			0				NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(1771-1773)Gcc>Tcc		ATPase type 13A5							83.0	79.0	81.0					3																	193039614		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193039614C>A	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.1771G>T	3.37:g.193039614C>A	ENSP00000341942:p.Ala591Ser						p.A591S	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	16	1888	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		591					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.1771G>T	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	C	8.522	0.868989	0.17322	.	.	ENSG00000187527	ENST00000342358	T	0.70164	-0.46	5.67	3.82	0.43975	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.379004	0.25587	N	0.029660	T	0.39009	0.1062	N	0.03194	-0.395	0.27936	N	0.937685	B	0.18013	0.025	B	0.24974	0.057	T	0.27226	-1.0080	10	0.12103	T	0.63	-5.2256	8.7859	0.34821	0.1505:0.7695:0.0:0.08	.	591	Q4VNC0	AT135_HUMAN	S	591	ENSP00000341942:A591S	ENSP00000341942:A591S	A	-	1	0	ATP13A5	194522308	0.998000	0.40836	0.710000	0.30468	0.104000	0.19210	3.603000	0.54074	0.698000	0.31739	0.655000	0.94253	GCC		0.473	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		34	52	1	0	9.8876e-21	1	1.16963e-20	34	52				
MAPKBP1	23005	broad.mit.edu	37	15	42117612	42117612	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr15:42117612G>A	ENST00000456763.2	+	32	4719	c.4523G>A	c.(4522-4524)cGg>cAg	p.R1508Q	RP11-23P13.4_ENST00000512295.1_RNA|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.R1341Q|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R1225Q|JMJD7_ENST00000397299.4_5'Flank|JMJD7_ENST00000408047.1_5'Flank|RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R1385Q|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.R1502Q|JMJD7-PLA2G4B_ENST00000382448.4_5'Flank|PLA2G4B_ENST00000542534.2_5'Flank|JMJD7-PLA2G4B_ENST00000342159.4_5'Flank	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1508										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GCCGTGGAACGGCGTATGGAA	0.592																																						ENST00000457542.2																			0				breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(4504-4506)cGg>cAg		mitogen-activated protein kinase binding protein 1							29.0	28.0	28.0					15																	42117612		2203	4300	6503	SO:0001583	missense	23005							g.chr15:42117612G>A	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.4523G>A	15.37:g.42117612G>A	ENSP00000393099:p.Arg1508Gln					RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R1225Q|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R1385Q|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.R1341Q|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.R1508Q	p.R1502Q	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	31	4791	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	1508					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.4505G>A	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	.	20.6	4.020394	0.75275	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.62232	0.34;0.36;0.04;0.39;0.19	4.64	1.77	0.24775	.	0.281258	0.30800	N	0.008860	T	0.72220	0.3433	M	0.67397	2.05	0.27275	N	0.958269	B;B;B;B;D;D	0.76494	0.135;0.135;0.231;0.011;0.994;0.999	B;B;B;B;P;D	0.80764	0.01;0.016;0.015;0.005;0.677;0.994	T	0.63247	-0.6680	10	0.72032	D	0.01	-5.3019	7.7368	0.28819	0.3229:0.0:0.6771:0.0	.	1341;1383;1341;1225;1508;1502	F8WC21;O60336-3;B4DYK7;O60336-2;O60336;O60336-6	.;.;.;.;MABP1_HUMAN;.	Q	1502;1385;1341;1508;1225	ENSP00000397570:R1502Q;ENSP00000221214:R1385Q;ENSP00000260357:R1341Q;ENSP00000393099:R1508Q;ENSP00000426154:R1225Q	ENSP00000221214:R1385Q	R	+	2	0	MAPKBP1	39904904	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	2.729000	0.47327	0.214000	0.20742	0.655000	0.94253	CGG		0.592	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		19	28	0	0	0	1	0	19	28				
HIST1H3D	8351	broad.mit.edu	37	6	26197305	26197305	+	Silent	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr6:26197305C>T	ENST00000356476.2	-	1	173	c.174G>A	c.(172-174)tcG>tcA	p.S58S	HIST1H2BF_ENST00000359985.1_5'Flank|HIST1H3D_ENST00000377831.5_Silent_p.S58S			P68431	H31_HUMAN	histone cluster 1, H3d	58					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				GCAGCTCGGTCGACTTCTGGT	0.627																																					GBM(108;3816 4467)	ENST00000377831.5																			0				NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14						c.(172-174)tcG>tcA		histone cluster 1, H3d							62.0	64.0	63.0					6																	26197305		2203	4300	6503	SO:0001819	synonymous_variant	8351				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26197305C>T	Z80784	CCDS4590.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197409	ENSG00000197409		"""Histones / Replication-dependent"""	4767	protein-coding gene	gene with protein product		602811	"""H3 histone family, member B"", ""histone 1, H3d"""	H3FB		9119399, 12408966	Standard	NM_003530		Approved	H3/b	uc003ngv.4	P68431	OTTHUMG00000014433	ENST00000356476.2:c.174G>A	6.37:g.26197305C>T						HIST1H3D_ENST00000356476.2_Silent_p.S58S	p.S58S	NM_003530.3	NP_003521.2	P68431	H31_HUMAN			2	627	-		all_hematologic(11;0.196)	58					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000356476.2	37	c.174G>A	CCDS4590.1																																																																																				0.627	HIST1H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040096.1	NM_003530		42	82	0	0	0	1	0	42	82				
AMPD1	270	broad.mit.edu	37	1	115222935	115222935	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:115222935C>A	ENST00000520113.2	-	6	826	c.811G>T	c.(811-813)Gac>Tac	p.D271Y	AMPD1_ENST00000369538.3_Missense_Mutation_p.D267Y|AMPD1_ENST00000353928.6_Missense_Mutation_p.D238Y			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	271					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AAGAAGGTGTCCAGATTTGGG	0.408																																						ENST00000369538.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45						c.(799-801)Gac>Tac		adenosine monophosphate deaminase 1	Adenosine monophosphate(DB00131)						192.0	178.0	183.0					1																	115222935		2203	4300	6503	SO:0001583	missense	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115222935C>A	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.811G>T	1.37:g.115222935C>A	ENSP00000430075:p.Asp271Tyr					AMPD1_ENST00000353928.6_Missense_Mutation_p.D238Y|AMPD1_ENST00000520113.2_Missense_Mutation_p.D271Y	p.D267Y	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	846	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	238					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	c.799G>T	CCDS876.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028140	0.75390	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.91464	-2.85;-2.85;-2.85	6.07	5.16	0.70880	.	0.316146	0.41823	D	0.000818	D	0.84620	0.5512	L	0.43152	1.355	0.48571	D	0.999674	B;B	0.33857	0.429;0.153	B;B	0.40101	0.319;0.104	D	0.85724	0.1327	10	0.72032	D	0.01	-13.7431	10.9442	0.47292	0.0:0.8616:0.0:0.1384	.	267;238	Q5TF02;P23109	.;AMPD1_HUMAN	Y	271;267;238	ENSP00000430075:D271Y;ENSP00000358551:D267Y;ENSP00000316520:D238Y	ENSP00000316520:D238Y	D	-	1	0	AMPD1	115024458	1.000000	0.71417	0.958000	0.39756	0.977000	0.68977	1.644000	0.37228	2.890000	0.99128	0.585000	0.79938	GAC		0.408	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			28	51	1	0	3.80469e-20	1	4.4734e-20	28	51				
OR10H1	26539	broad.mit.edu	37	19	15918304	15918304	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr19:15918304G>A	ENST00000334920.2	-	1	632	c.544C>T	c.(544-546)Cca>Tca	p.P182S		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	182						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(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						AACAGAGGTGGCACATGGCAA	0.577																																						ENST00000334920.2																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						c.(544-546)Cca>Tca		olfactory receptor, family 10, subfamily H, member 1							196.0	153.0	167.0					19																	15918304		2203	4300	6503	SO:0001583	missense	26539				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15918304G>A	AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"""GPCR / Class A : Olfactory receptors"""	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.544C>T	19.37:g.15918304G>A	ENSP00000335596:p.Pro182Ser						p.P182S	NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN			1	632	-			182					Q6IFQ2|Q96R59	Missense_Mutation	SNP	ENST00000334920.2	37	c.544C>T	CCDS12335.1	.	.	.	.	.	.	.	.	.	.	.	2.507	-0.313753	0.05422	.	.	ENSG00000186723	ENST00000334920	T	0.00202	8.56	4.62	4.62	0.57501	GPCR, rhodopsin-like superfamily (1);	0.281218	0.25598	N	0.029568	T	0.00178	0.0005	N	0.26092	0.79	0.09310	N	1	P	0.42337	0.776	B	0.43155	0.41	T	0.65063	-0.6259	10	0.14252	T	0.57	.	14.9333	0.70933	0.0:0.0:1.0:0.0	.	182	Q9Y4A9	O10H1_HUMAN	S	182	ENSP00000335596:P182S	ENSP00000335596:P182S	P	-	1	0	OR10H1	15779304	0.001000	0.12720	0.538000	0.28064	0.111000	0.19643	0.868000	0.27982	2.111000	0.64477	0.643000	0.83706	CCA		0.577	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460364.1			22	70	0	0	0	1	0	22	70				
EGR2	1959	broad.mit.edu	37	10	64573021	64573021	+	Silent	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr10:64573021G>A	ENST00000242480.3	-	2	1702	c.1377C>T	c.(1375-1377)agC>agT	p.S459S	EGR2_ENST00000439032.1_Silent_p.S459S|EGR2_ENST00000493899.2_5'Flank|EGR2_ENST00000411732.1_Silent_p.S409S	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	459					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					CGCCAAGACTGCTGCTGTTAC	0.657																																						ENST00000242480.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36						c.(1375-1377)agC>agT		early growth response 2							79.0	81.0	80.0					10																	64573021		2203	4300	6503	SO:0001819	synonymous_variant	1959				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr10:64573021G>A	BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"""Zinc fingers, C2H2-type"""	3239	protein-coding gene	gene with protein product	"""Krox-20 homolog, Drosophila"""	129010	"""early growth response 2 (Krox-20 homolog, Drosophila)"""	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.1377C>T	10.37:g.64573021G>A						EGR2_ENST00000411732.1_Silent_p.S409S|EGR2_ENST00000439032.1_Silent_p.S459S	p.S459S	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN			2	1702	-	Prostate(12;0.0297)|all_hematologic(501;0.228)		459					B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Silent	SNP	ENST00000242480.3	37	c.1377C>T	CCDS7267.1																																																																																				0.657	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399		42	93	0	0	0	1	0	42	93				
C1RL	51279	broad.mit.edu	37	12	7249421	7249421	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr12:7249421C>G	ENST00000266542.4	-	6	1122	c.1030G>C	c.(1030-1032)Gag>Cag	p.E344Q	C1RL_ENST00000545280.1_Intron|C1RL_ENST00000504702.2_Intron|C1RL_ENST00000544702.1_3'UTR	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	344	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGCTGCAGCTCCAGGAGGGCG	0.612																																						ENST00000266542.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1030-1032)Gag>Cag		complement component 1, r subcomponent-like							103.0	84.0	90.0					12																	7249421		2203	4300	6503	SO:0001583	missense	51279				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity	g.chr12:7249421C>G	AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178			21265	protein-coding gene	gene with protein product		608974				12838346	Standard	XM_005253385		Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000266542.4:c.1030G>C	12.37:g.7249421C>G	ENSP00000266542:p.Glu344Gln					C1RL_ENST00000545280.1_Intron|C1RL_ENST00000504702.2_Intron|C1RL_ENST00000544702.1_3'UTR	p.E344Q	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN			6	1122	-			344			Peptidase S1.		Q53GX9	Missense_Mutation	SNP	ENST00000266542.4	37	c.1030G>C	CCDS8573.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.33|13.33	2.205627|2.205627	0.39003|0.39003	.|.	.|.	ENSG00000139178|ENSG00000139178	ENST00000266542;ENST00000396661|ENST00000534950	D|.	0.88431|.	-2.38|.	4.98|4.98	4.98|4.98	0.66077|0.66077	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	0.074664|.	0.56097|.	D|.	0.000035|.	T|T	0.56514|0.56514	0.1990|0.1990	L|L	0.37897|0.37897	1.145|1.145	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.51679|0.51679	-0.8675|-0.8675	10|5	0.12103|.	T|.	0.63|.	.|.	13.1857|13.1857	0.59680|0.59680	0.0:0.8401:0.1599:0.0|0.0:0.8401:0.1599:0.0	.|.	344|.	Q9NZP8|.	C1RL_HUMAN|.	Q|A	344|176	ENSP00000266542:E344Q|.	ENSP00000266542:E344Q|.	E|G	-|-	1|2	0|0	C1RL|C1RL	7140563|7140563	0.658000|0.658000	0.27402|0.27402	1.000000|1.000000	0.80357|0.80357	0.774000|0.774000	0.43823|0.43823	0.620000|0.620000	0.24403|0.24403	2.595000|2.595000	0.87683|0.87683	0.511000|0.511000	0.50034|0.50034	GAG|GGA		0.612	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398367.1	NM_016546		29	59	0	0	0	1	0	29	59				
SLC4A1	6521	broad.mit.edu	37	17	42335044	42335044	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:42335044C>T	ENST00000262418.6	-	12	1569	c.1414G>A	c.(1414-1416)Gag>Aag	p.E472K	SLC4A1_ENST00000471005.1_5'Flank|AC003043.1_ENST00000597382.1_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	472	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AAGGCTTCCTCAAACACCAGC	0.612																																						ENST00000262418.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40						c.(1414-1416)Gag>Aag		solute carrier family 4 (anion exchanger), member 1							56.0	57.0	57.0					17																	42335044		2203	4300	6503	SO:0001583	missense	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42335044C>T		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.1414G>A	17.37:g.42335044C>T	ENSP00000262418:p.Glu472Lys						p.E472K	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	12	1569	-		Breast(137;0.014)|Prostate(33;0.0181)	472			Membrane (anion exchange).		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	ENST00000262418.6	37	c.1414G>A	CCDS11481.1	.	.	.	.	.	.	.	.	.	.	c	36	5.615829	0.96649	.	.	ENSG00000004939	ENST00000262418	D	0.83075	-1.68	5.57	5.57	0.84162	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94195	0.8137	H	0.95470	3.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.95493	0.8571	10	0.87932	D	0	.	19.1573	0.93516	0.0:1.0:0.0:0.0	.	472;472	E2RVJ0;P02730	.;B3AT_HUMAN	K	472	ENSP00000262418:E472K	ENSP00000262418:E472K	E	-	1	0	SLC4A1	39690570	1.000000	0.71417	0.988000	0.46212	0.887000	0.51463	7.794000	0.85869	2.619000	0.88677	0.561000	0.74099	GAG		0.612	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		18	19	0	0	0	1	0	18	19				
REG1P	5969	broad.mit.edu	37	2	79363221	79363221	+	RNA	SNP	G	G	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr2:79363221G>C	ENST00000444841.1	-	0	1117									regenerating islet-derived 1 pseudogene																		GGAAGGGCCAGAACAGGGGCA	0.483																																						ENST00000444841.1																			0																																																			5969							g.chr2:79363221G>C			2p12	2008-06-04	2008-06-04	2008-06-04	ENSG00000204787	ENSG00000204787			9953	pseudogene	pseudogene			"""rat regenerating islet-derived-like, human homolog (pancreatic stone protein-like, pancreatic thread protein-like)"", ""regenerating islet-derived-like, pancreatic stone protein-like, pancreatic thread protein-like (rat)"""	REGL		8333731	Standard	NR_002714		Approved	RS	uc002soc.1		OTTHUMG00000152978		2.37:g.79363221G>C														0	1117	-									RNA	SNP	ENST00000444841.1	37																																																																																						0.483	REG1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328851.1	NR_002714		8	19	0	0	0	1	0	8	19				
SMARCA4	6597	broad.mit.edu	37	19	11143985	11143985	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr19:11143985G>A	ENST00000429416.3	+	27	3847	c.3566G>A	c.(3565-3567)cGa>cAa	p.R1189Q	SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1189Q|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1189Q|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1189Q|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1189Q|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1189Q|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1189Q|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R1189Q|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1189Q	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1189	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.R1189Q(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCGCAGGACCGAGCCCACCGC	0.612			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		2	Substitution - Missense(1)|Unknown(1)	p.R1189Q(1)|p.?(1)	upper_aerodigestive_tract(1)|lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(3565-3567)cGa>cAa		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							55.0	55.0	55.0					19																	11143985		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11143985G>A	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3566G>A	19.37:g.11143985G>A	ENSP00000395654:p.Arg1189Gln					SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1189Q|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1189Q|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1189Q|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1189Q|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1189Q|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1189Q|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1189Q|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1189Q	p.R1189Q	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			26	3850	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1189			Helicase C-terminal.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3566G>A	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.911869	0.92178	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.99143	-5.48;-5.48;-5.48;-5.48;-5.48;-5.48;-5.48	4.74	4.74	0.60224	Helicase, C-terminal (3);	0.156736	0.43919	D	0.000508	D	0.99739	0.9897	H	0.99982	5.21	0.58432	D	0.999997	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	0.998;0.999;0.999;0.998;0.995;1.0;0.999	D	0.96487	0.9361	10	0.87932	D	0	-20.177	16.7067	0.85374	0.0:0.0:1.0:0.0	.	1189;1189;1189;1189;1189;409;1189	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	Q	1189;1189;1253;1189;1189;1189;1189;1189	ENSP00000395654:R1189Q;ENSP00000350720:R1189Q;ENSP00000343896:R1189Q;ENSP00000445036:R1189Q;ENSP00000392837:R1189Q;ENSP00000397783:R1189Q;ENSP00000414727:R1189Q	ENSP00000343896:R1189Q	R	+	2	0	SMARCA4	11004985	1.000000	0.71417	0.969000	0.41365	0.990000	0.78478	9.313000	0.96297	2.488000	0.83962	0.558000	0.71614	CGA		0.612	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		43	70	0	0	0	1	0	43	70				
MKI67	4288	broad.mit.edu	37	10	129904082	129904082	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr10:129904082C>G	ENST00000368654.3	-	13	6397	c.6022G>C	c.(6022-6024)Gtg>Ctg	p.V2008L	MKI67_ENST00000368653.3_Missense_Mutation_p.V1648L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2008	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCTTCTTTCACACCTACTTTC	0.493																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(6022-6024)Gtg>Ctg		marker of proliferation Ki-67							294.0	282.0	286.0					10																	129904082		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129904082C>G	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6022G>C	10.37:g.129904082C>G	ENSP00000357643:p.Val2008Leu					MKI67_ENST00000368653.3_Missense_Mutation_p.V1648L	p.V2008L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	6397	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2008			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.6022G>C	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.295905	0.40594	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.04194	3.68;3.68	3.72	-1.74	0.08056	.	2.200360	0.02306	N	0.071677	T	0.04318	0.0119	L	0.43152	1.355	0.09310	N	1	B;B;B	0.28880	0.004;0.226;0.005	B;B;B	0.23852	0.004;0.049;0.007	T	0.37056	-0.9722	10	0.26408	T	0.33	.	0.9806	0.01435	0.1465:0.2436:0.3145:0.2954	.	2007;1648;2008	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	L	2008;1648;2007	ENSP00000357643:V2008L;ENSP00000357642:V1648L	ENSP00000357642:V1648L	V	-	1	0	MKI67	129794072	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.166000	0.03129	-0.223000	0.09943	-0.122000	0.15005	GTG		0.493	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		83	199	0	0	0	1	0	83	199				
TAS2R8	50836	broad.mit.edu	37	12	10959134	10959134	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr12:10959134G>T	ENST00000240615.2	-	1	758	c.446C>A	c.(445-447)gCa>gAa	p.A149E		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	149					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CAGTACTATTGCTGCTATAAG	0.398																																						ENST00000240615.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(445-447)gCa>gAa		taste receptor, type 2, member 8							118.0	105.0	110.0					12																	10959134		2203	4300	6503	SO:0001583	missense	50836				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10959134G>T	AF227134	CCDS8632.1	12p13	2012-08-22			ENSG00000121314	ENSG00000121314		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14915	protein-coding gene	gene with protein product		604794				10761934, 10766242	Standard	NM_023918		Approved	T2R8, TRB5	uc010shh.2	Q9NYW2	OTTHUMG00000168506	ENST00000240615.2:c.446C>A	12.37:g.10959134G>T	ENSP00000240615:p.Ala149Glu						p.A149E	NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN			1	758	-			149					Q4KN29|Q645Y2	Missense_Mutation	SNP	ENST00000240615.2	37	c.446C>A	CCDS8632.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.598381	0.28445	.	.	ENSG00000121314	ENST00000240615	T	0.38401	1.14	5.24	-5.04	0.02964	GPCR, rhodopsin-like superfamily (1);	1.839950	0.03182	U	0.172213	T	0.21590	0.0520	N	0.08118	0	0.09310	N	1	B	0.30179	0.271	B	0.38156	0.266	T	0.21381	-1.0247	10	0.18710	T	0.47	.	9.1339	0.36861	0.6376:0.0:0.2533:0.1091	.	149	Q9NYW2	TA2R8_HUMAN	E	149	ENSP00000240615:A149E	ENSP00000240615:A149E	A	-	2	0	TAS2R8	10850401	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.567000	0.23608	-0.904000	0.03876	-0.259000	0.10710	GCA		0.398	TAS2R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399932.1			15	37	1	0	4.7546e-09	1	5.27082e-09	15	37				
SNHG14	104472715	broad.mit.edu	37	15	25457036	25457036	+	RNA	SNP	G	G	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr15:25457036G>C	ENST00000424208.1	+	0	2516				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA|SNORD115-24_ENST00000363528.1_RNA|SNORD115-23_ENST00000364461.1_RNA|SNORD115-22_ENST00000364456.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		ACCTAGGTGAGAAATTTGGAG	0.512																																						ENST00000424208.1																			0																				221.0	231.0	228.0					15																	25457036		876	1991	2867			104472715							g.chr15:25457036G>C			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.25457036G>C						SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA		NR_003305.1						0	2516	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.512	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			65	215	0	0	0	1	0	65	215				
KIF18A	81930	broad.mit.edu	37	11	28090877	28090877	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr11:28090877C>T	ENST00000263181.6	-	11	1809	c.1519G>A	c.(1519-1521)Gag>Aag	p.E507K		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	507					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						TTAGTATTCTCATCAAATTGC	0.403																																						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.(1519-1521)Gag>Aag		kinesin family member 18A							121.0	110.0	113.0					11																	28090877		2202	4299	6501	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.chr11:28090877C>T	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.1519G>A	11.37:g.28090877C>T	ENSP00000263181:p.Glu507Lys						p.E507K	NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN			11	1809	-			507					Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	ENST00000263181.6	37	c.1519G>A	CCDS7867.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942916	0.73672	.	.	ENSG00000121621	ENST00000263181	T	0.74002	-0.8	5.49	5.49	0.81192	.	0.202761	0.51477	D	0.000095	D	0.83691	0.5309	M	0.68952	2.095	0.58432	D	0.999991	D	0.76494	0.999	P	0.61328	0.887	T	0.82275	-0.0538	10	0.37606	T	0.19	.	18.9698	0.92711	0.0:1.0:0.0:0.0	.	507	Q8NI77	KI18A_HUMAN	K	507	ENSP00000263181:E507K	ENSP00000263181:E507K	E	-	1	0	KIF18A	28047453	1.000000	0.71417	1.000000	0.80357	0.296000	0.27459	3.831000	0.55776	2.593000	0.87608	0.655000	0.94253	GAG		0.403	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217		11	33	0	0	0	1	0	11	33				
LRP2	4036	broad.mit.edu	37	2	170003273	170003273	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr2:170003273C>G	ENST00000263816.3	-	69	13072	c.12787G>C	c.(12787-12789)Gat>Cat	p.D4263H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4263					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ACTCTCCTATCAGTCCCATCA	0.333																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(12787-12789)Gat>Cat		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						97.0	97.0	97.0					2																	170003273		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170003273C>G		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.12787G>C	2.37:g.170003273C>G	ENSP00000263816:p.Asp4263His						p.D4263H	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	69	13072	-			4263					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.12787G>C	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012162	0.54468	.	.	ENSG00000081479	ENST00000263816	D	0.91237	-2.81	5.81	5.81	0.92471	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.044518	0.85682	D	0.000000	D	0.94202	0.8139	L	0.52364	1.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93495	0.6839	10	0.49607	T	0.09	.	20.0695	0.97716	0.0:1.0:0.0:0.0	.	4263	P98164	LRP2_HUMAN	H	4263	ENSP00000263816:D4263H	ENSP00000263816:D4263H	D	-	1	0	LRP2	169711519	1.000000	0.71417	0.656000	0.29637	0.041000	0.13682	7.814000	0.86154	2.738000	0.93877	0.655000	0.94253	GAT		0.333	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		19	64	0	0	0	1	0	19	64				
SLC22A12	116085	broad.mit.edu	37	11	64368958	64368958	+	Splice_Site	SNP	A	A	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr11:64368958A>T	ENST00000377574.1	+	10	2345		c.e10-1		SLC22A12_ENST00000377572.1_Splice_Site|SLC22A12_ENST00000473690.1_Splice_Site|SLC22A12_ENST00000336464.7_Splice_Site|SLC22A12_ENST00000377567.2_Splice_Site	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12						cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	CTTCCTGAACAGGGCAGTAAA	0.587																																						ENST00000377574.1																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.e10-1		solute carrier family 22 (organic anion/urate transporter), member 12							127.0	88.0	101.0					11																	64368958		2201	4297	6498	SO:0001630	splice_region_variant	116085				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity	g.chr11:64368958A>T	AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"""Solute carriers"""	17989	protein-coding gene	gene with protein product		607096	"""solute carrier family 22 (organic anion/cation transporter), member 12"""			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.1599-1A>T	11.37:g.64368958A>T						SLC22A12_ENST00000473690.1_Splice_Site|SLC22A12_ENST00000377572.1_Splice_Site|SLC22A12_ENST00000336464.7_Splice_Site|SLC22A12_ENST00000377567.2_Splice_Site		NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN			10	2345	+								B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Splice_Site	SNP	ENST00000377574.1	37		CCDS8075.1	.	.	.	.	.	.	.	.	.	.	A	13.03	2.115209	0.37339	.	.	ENSG00000197891	ENST00000377567;ENST00000377574;ENST00000377572;ENST00000473690;ENST00000336464	.	.	.	3.2	3.2	0.36748	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1607	0.31196	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC22A12	64125534	1.000000	0.71417	0.953000	0.39169	0.126000	0.20510	3.897000	0.56273	1.695000	0.51148	0.459000	0.35465	.		0.587	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2	NM_144585	Intron	4	20	0	0	0	1	0	4	20				
ACTN3	89	broad.mit.edu	37	11	66326839	66326839	+	lincRNA	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr11:66326839C>T	ENST00000504911.1	-	0	220				ACTN3_ENST00000502692.1_RNA|ACTN3_ENST00000513398.1_RNA																							CACATTGCCGCGCTGGCCCAG	0.736																																						ENST00000504911.1																			0																				13.0	14.0	14.0					11																	66326839		2174	4278	6452			89							g.chr11:66326839C>T																													11.37:g.66326839C>T						ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA								0	220	-									RNA	SNP	ENST00000504911.1	37																																																																																						0.736	CTD-3074O7.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000362463.1			8	17	0	0	0	1	0	8	17				
BAHCC1	57597	broad.mit.edu	37	17	79427630	79427630	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:79427630C>T	ENST00000307745.7	+	29	6100	c.6100C>T	c.(6100-6102)Ccg>Tcg	p.P2034S	RP11-1055B8.8_ENST00000572590.1_RNA																							TGAGGCACCCCCGCCTAGTGA	0.592																																						ENST00000307745.7																			0											c.(6100-6102)Ccg>Tcg									14.0	17.0	16.0					17																	79427630		2006	4160	6166	SO:0001583	missense	57597							g.chr17:79427630C>T																												ENST00000307745.7:c.6100C>T	17.37:g.79427630C>T	ENSP00000303486:p.Pro2034Ser						p.P2034S							29	6100	+									Missense_Mutation	SNP	ENST00000307745.7	37	c.6100C>T		.	.	.	.	.	.	.	.	.	.	C	2.953	-0.216319	0.06101	.	.	ENSG00000171282	ENST00000307745	T	0.11063	2.81	5.4	2.18	0.27775	.	0.646733	0.14021	N	0.346802	T	0.09024	0.0223	L	0.57536	1.79	0.09310	N	1	B;B	0.30605	0.084;0.287	B;B	0.26864	0.024;0.074	T	0.30416	-0.9979	10	0.30078	T	0.28	.	2.3183	0.04204	0.1454:0.4927:0.1925:0.1694	.	2034;2034	Q9P281;F8WBW8	BAHC1_HUMAN;.	S	2034	ENSP00000303486:P2034S	ENSP00000303486:P2034S	P	+	1	0	AC110285.1	77042225	0.000000	0.05858	0.004000	0.12327	0.015000	0.08874	-0.430000	0.06973	0.568000	0.29311	0.555000	0.69702	CCG		0.592	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				6	13	0	0	0	1	0	6	13				
KIF13A	63971	broad.mit.edu	37	6	17779326	17779326	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr6:17779326G>A	ENST00000259711.6	-	33	4049	c.3944C>T	c.(3943-3945)aCt>aTt	p.T1315I	KIF13A_ENST00000378826.2_Missense_Mutation_p.T1315I|KIF13A_ENST00000378843.2_Missense_Mutation_p.T1302I|KIF13A_ENST00000378816.5_Missense_Mutation_p.T1315I|KIF13A_ENST00000378814.5_Missense_Mutation_p.T1302I	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1315					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TATCTCCTCAGTTGCCTACGA	0.473																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(3904-3906)aCt>aTt		kinesin family member 13A							86.0	83.0	84.0					6																	17779326		2109	4217	6326	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17779326G>A	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.3944C>T	6.37:g.17779326G>A	ENSP00000259711:p.Thr1315Ile					KIF13A_ENST00000378826.2_Missense_Mutation_p.T1315I|KIF13A_ENST00000378816.5_Missense_Mutation_p.T1315I|KIF13A_ENST00000259711.6_Missense_Mutation_p.T1315I|KIF13A_ENST00000378843.2_Missense_Mutation_p.T1302I	p.T1302I	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		32	3904	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	1315					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.3905C>T	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590523	0.86851	.	.	ENSG00000137177	ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T;T	0.71461	-0.56;1.9;-0.57;-0.56;-0.56;-0.56	5.47	5.47	0.80525	.	0.054833	0.85682	D	0.000000	T	0.73393	0.3581	L	0.40543	1.245	0.51012	D	0.999904	B;D;B;D	0.63880	0.082;0.993;0.049;0.984	B;P;B;P	0.60886	0.053;0.88;0.016;0.839	T	0.74657	-0.3592	10	0.59425	D	0.04	.	19.7017	0.96057	0.0:0.0:1.0:0.0	.	1302;1315;1315;1302	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	I	1302;319;1315;1315;1302;1315	ENSP00000368091:T1302I;ENSP00000425616:T319I;ENSP00000259711:T1315I;ENSP00000368103:T1315I;ENSP00000368120:T1302I;ENSP00000368093:T1315I	ENSP00000259711:T1315I	T	-	2	0	KIF13A	17887305	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	9.420000	0.97426	2.724000	0.93272	0.561000	0.74099	ACT		0.473	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			9	18	0	0	0	1	0	9	18				
TRPM3	80036	broad.mit.edu	37	9	73296482	73296482	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr9:73296482G>A	ENST00000377111.2	-	9	1528	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	TRPM3_ENST00000377105.1_Missense_Mutation_p.R276W|TRPM3_ENST00000358082.3_Missense_Mutation_p.R301W|TRPM3_ENST00000408909.2_Missense_Mutation_p.R276W|TRPM3_ENST00000377110.3_Missense_Mutation_p.R429W|TRPM3_ENST00000377106.1_Missense_Mutation_p.R301W|TRPM3_ENST00000357533.2_Missense_Mutation_p.R431W|TRPM3_ENST00000396285.1_Missense_Mutation_p.R276W|TRPM3_ENST00000423814.3_Missense_Mutation_p.R456W|TRPM3_ENST00000396280.5_Missense_Mutation_p.R276W|TRPM3_ENST00000360823.2_Missense_Mutation_p.R301W|TRPM3_ENST00000396292.4_Missense_Mutation_p.R301W	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	454					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GATCCCATCCGAAATACCGTA	0.393																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(1285-1287)Cgg>Tgg		transient receptor potential cation channel, subfamily M, member 3							169.0	163.0	165.0					9																	73296482		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73296482G>A	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.1285C>T	9.37:g.73296482G>A	ENSP00000366315:p.Arg429Trp					TRPM3_ENST00000377111.2_Missense_Mutation_p.R429W|TRPM3_ENST00000360823.2_Missense_Mutation_p.R301W|TRPM3_ENST00000358082.3_Missense_Mutation_p.R301W|TRPM3_ENST00000408909.2_Missense_Mutation_p.R276W|TRPM3_ENST00000377106.1_Missense_Mutation_p.R301W|TRPM3_ENST00000396280.5_Missense_Mutation_p.R276W|TRPM3_ENST00000423814.3_Missense_Mutation_p.R456W|TRPM3_ENST00000377105.1_Missense_Mutation_p.R276W|TRPM3_ENST00000396292.4_Missense_Mutation_p.R301W|TRPM3_ENST00000396285.1_Missense_Mutation_p.R276W|TRPM3_ENST00000357533.2_Missense_Mutation_p.R431W	p.R429W	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			9	1528	-			454					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.1285C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.121049|4.121049	0.77436|0.77436	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	T;T;T;T;T;T;T;T;T;T;T|.	0.58358|.	1.64;1.64;0.36;0.34;1.64;1.64;1.64;1.64;0.36;0.34;0.38|.	5.95|5.95	5.04|5.04	0.67666|0.67666	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73369|0.73369	0.3578|0.3578	M|M	0.74258|0.74258	2.255|2.255	0.45762|0.45762	D|D	0.998656|0.998656	D;D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;0.997;1.0;0.988;0.999|.	D;D;D;D;D;D;D;P;D|.	0.76575|.	0.982;0.988;0.962;0.984;0.937;0.96;0.984;0.674;0.973|.	T|T	0.74182|0.74182	-0.3748|-0.3748	10|5	0.59425|.	D|.	0.04|.	-19.4347|-19.4347	13.8299|13.8299	0.63373|0.63373	0.0:0.0:0.8466:0.1534|0.0:0.0:0.8466:0.1534	.|.	454;429;429;429;431;301;276;429;276|.	Q9HCF6;Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	TRPM3_HUMAN;.;.;.;.;.;.;.;.|.	W|L	429;429;301;301;276;431;276;276;301;301;456|275	ENSP00000366315:R429W;ENSP00000366314:R429W;ENSP00000366310:R301W;ENSP00000354066:R301W;ENSP00000366309:R276W;ENSP00000350140:R431W;ENSP00000386127:R276W;ENSP00000379581:R276W;ENSP00000379587:R301W;ENSP00000350791:R301W;ENSP00000389542:R456W|.	ENSP00000350140:R431W|.	R|S	-|-	1|2	2|0	TRPM3|TRPM3	72486302|72486302	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.315000|4.315000	0.59172|0.59172	1.495000|1.495000	0.48549|0.48549	0.563000|0.563000	0.77884|0.77884	CGG|TCG		0.393	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		11	43	0	0	0	1	0	11	43				
PCDHB7	56129	broad.mit.edu	37	5	140553994	140553994	+	Silent	SNP	G	G	T	rs374392843		TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A526A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCGTTCGAGTTCC	0.706													g|||	1	0.000199681	0.0	0.0	5008	,	,		16269	0.0		0.001	False		,,,				2504	0.0					ENST00000231137.3																			1	Substitution - coding silent(1)	p.A526A(1)	lung(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1576-1578)gcG>gcT									62.0	68.0	66.0					5																	140553994		2203	4300	6503	SO:0001819	synonymous_variant	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553994G>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1578G>T	5.37:g.140553994G>T							p.A526A	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1752	+			526			Cadherin 5.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1578G>T	CCDS4249.1																																																																																				0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		5	197	1	0	1.23904e-05	1	1.31352e-05	5	197				
SLC9A3R2	9351	broad.mit.edu	37	16	2087943	2087943	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr16:2087943G>C	ENST00000424542.2	+	7	1110	c.972G>C	c.(970-972)caG>caC	p.Q324H	SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.Q213H|NTHL1_ENST00000562951.1_5'Flank|SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.Q218H|SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.Q313H	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2	324					negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|protein complex assembly (GO:0006461)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatase binding (GO:0019902)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)	2						GCGCGCCACAGATGGACTGGA	0.642																																					Ovarian(69;105 1552 17724 23473)	ENST00000424542.2																			0				central_nervous_system(1)|endometrium(1)	2						c.(970-972)caG>caC		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2							45.0	55.0	51.0					16																	2087943		2113	4214	6327	SO:0001583	missense	9351				protein complex assembly	apical plasma membrane|endomembrane system|nucleus	beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding	g.chr16:2087943G>C	AF004900	CCDS45382.1, CCDS45383.1, CCDS58407.1	16p13.3	2014-09-04	2012-03-22		ENSG00000065054	ENSG00000065054			11076	protein-coding gene	gene with protein product		606553	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2"""			9054412, 9671706	Standard	NM_001130012		Approved	SIP-1, TKA-1, NHERF-2, E3KARP	uc002coi.3	Q15599	OTTHUMG00000176956	ENST00000424542.2:c.972G>C	16.37:g.2087943G>C	ENSP00000408005:p.Gln324His					SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.Q218H|SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.Q213H|SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.Q313H	p.Q324H	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN			7	1110	+			324					D3DU84|D3DU85|H3BSV6|O00272|O00556|Q3KQY7	Missense_Mutation	SNP	ENST00000424542.2	37	c.972G>C	CCDS45382.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.329857	0.41297	.	.	ENSG00000065054	ENST00000424542;ENST00000432365	T;T	0.25749	1.84;1.78	5.09	3.1	0.35709	EBP50, C-terminal (2);	0.069913	0.64402	D	0.000011	T	0.43188	0.1236	L	0.58101	1.795	0.53688	D	0.999979	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.77557	0.99;0.984;0.981	T	0.23691	-1.0181	10	0.72032	D	0.01	-24.5788	9.6537	0.39912	0.078:0.1419:0.7801:0.0	.	359;313;324	Q6NTG0;D3DU85;Q15599	.;.;NHRF2_HUMAN	H	324;313	ENSP00000408005:Q324H;ENSP00000402857:Q313H	ENSP00000408005:Q324H	Q	+	3	2	SLC9A3R2	2027944	1.000000	0.71417	0.994000	0.49952	0.737000	0.42083	3.981000	0.56902	0.539000	0.28788	0.491000	0.48974	CAG		0.642	SLC9A3R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434448.1			8	27	0	0	0	1	0	8	27				
GRK5	2869	broad.mit.edu	37	10	121086086	121086086	+	Silent	SNP	T	T	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr10:121086086T>A	ENST00000392870.2	+	2	440	c.111T>A	c.(109-111)ccT>ccA	p.P37P		NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	37	Interaction with calmodulin.|N-terminal.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TGAAGTTCCCTCACATTAGCC	0.562																																						ENST00000392870.2																			0				endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27						c.(109-111)ccT>ccA		G protein-coupled receptor kinase 5							74.0	68.0	70.0					10																	121086086		2203	4300	6503	SO:0001819	synonymous_variant	2869				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	g.chr10:121086086T>A	L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.111T>A	10.37:g.121086086T>A							p.P37P	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN		all cancers(201;0.0227)	2	440	+		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)	37			N-terminal.		D3DRD0|Q5T059	Silent	SNP	ENST00000392870.2	37	c.111T>A	CCDS7612.1																																																																																				0.562	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050652.2	NM_005308		14	29	0	0	0	1	0	14	29				
MRPL22	29093	broad.mit.edu	37	5	154330430	154330430	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr5:154330430C>T	ENST00000523037.1	+	3	168	c.127C>T	c.(127-129)Cga>Tga	p.R43*	MRPL22_ENST00000439747.3_Nonsense_Mutation_p.R69*|MRPL22_ENST00000265229.8_Intron|MRPL22_ENST00000522038.1_Nonsense_Mutation_p.R49*	NM_014180.3	NP_054899.2	Q9NWU5	RM22_HUMAN	mitochondrial ribosomal protein L22	43					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGACATTTCTCGAAAATGGGA	0.393																																						ENST00000523037.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2)	10						c.(127-129)Cga>Tga		mitochondrial ribosomal protein L22							115.0	112.0	113.0					5																	154330430		2203	4300	6503	SO:0001587	stop_gained	29093				translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome	g.chr5:154330430C>T	AB051622	CCDS4331.1, CCDS43391.1	5q33.2	2012-09-13			ENSG00000082515	ENSG00000082515		"""Mitochondrial ribosomal proteins / large subunits"""	14480	protein-coding gene	gene with protein product		611835					Standard	NM_014180		Approved	MRP-L25, RPML25, HSPC158	uc003lvy.4	Q9NWU5	OTTHUMG00000130190	ENST00000523037.1:c.127C>T	5.37:g.154330430C>T	ENSP00000431040:p.Arg43*					MRPL22_ENST00000522038.1_Nonsense_Mutation_p.R49*|MRPL22_ENST00000265229.8_Intron|MRPL22_ENST00000439747.3_Nonsense_Mutation_p.R69*	p.R43*	NM_014180.3	NP_054899.2	Q9NWU5	RM22_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		3	168	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	43					A6NGJ8|Q5H9Q1|Q96Q51|Q9P006	Nonsense_Mutation	SNP	ENST00000523037.1	37	c.127C>T	CCDS4331.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.775282	0.70107	.	.	ENSG00000082515	ENST00000523037;ENST00000439747;ENST00000522038	.	.	.	4.9	-0.777	0.10981	.	0.334305	0.31031	N	0.008388	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.2585	3.4261	0.07412	0.2748:0.2332:0.404:0.088	.	.	.	.	X	43;69;49	.	ENSP00000411177:R69X	R	+	1	2	MRPL22	154310623	0.811000	0.29063	0.989000	0.46669	0.951000	0.60555	0.787000	0.26858	0.128000	0.18479	0.591000	0.81541	CGA		0.393	MRPL22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252508.2			15	37	0	0	0	1	0	15	37				
SLC2A2	6514	broad.mit.edu	37	3	170715727	170715727	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr3:170715727C>T	ENST00000314251.3	-	11	1619	c.1540G>A	c.(1540-1542)Gaa>Aaa	p.E514K	SLC2A2_ENST00000382808.4_Missense_Mutation_p.E395K|RNU1-70P_ENST00000362618.1_RNA	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	514					carbohydrate metabolic process (GO:0005975)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transmembrane transport (GO:0035428)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	brush border (GO:0005903)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|hexose transmembrane transporter activity (GO:0015149)			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Streptozocin(DB00428)	AATTTCATTTCTACAGCAGCT	0.378																																						ENST00000314251.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1540-1542)Gaa>Aaa		solute carrier family 2 (facilitated glucose transporter), member 2							71.0	77.0	75.0					3																	170715727		2197	4293	6490	SO:0001583	missense	6514				carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity	g.chr3:170715727C>T	J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"""Solute carriers"""	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.1540G>A	3.37:g.170715727C>T	ENSP00000323568:p.Glu514Lys					SLC2A2_ENST00000382808.4_Missense_Mutation_p.E395K	p.E514K	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		11	1619	-	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		514					A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Missense_Mutation	SNP	ENST00000314251.3	37	c.1540G>A	CCDS3215.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345534	0.61073	.	.	ENSG00000163581	ENST00000314251;ENST00000382808	D;D	0.84070	-1.71;-1.8	6.17	5.29	0.74685	.	0.086055	0.85682	D	0.000000	T	0.77412	0.4126	L	0.31578	0.945	0.51482	D	0.999926	B	0.17465	0.022	B	0.19946	0.027	T	0.72786	-0.4188	10	0.59425	D	0.04	.	17.2675	0.87092	0.0:0.8705:0.1295:0.0	.	514	P11168	GTR2_HUMAN	K	514;395	ENSP00000323568:E514K;ENSP00000372258:E395K	ENSP00000323568:E514K	E	-	1	0	SLC2A2	172198421	0.999000	0.42202	0.918000	0.36340	0.487000	0.33371	3.963000	0.56773	1.585000	0.49928	0.655000	0.94253	GAA		0.378	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352834.1	NM_000340		22	105	0	0	0	1	0	22	105				
MGA	23269	broad.mit.edu	37	15	41988704	41988704	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr15:41988704C>A	ENST00000570161.1	+	2	1496	c.1496C>A	c.(1495-1497)tCt>tAt	p.S499Y	MGA_ENST00000566586.1_Missense_Mutation_p.S499Y|MGA_ENST00000568630.1_3'UTR|MGA_ENST00000219905.7_Missense_Mutation_p.S499Y|MGA_ENST00000545763.1_Missense_Mutation_p.S499Y|MGA_ENST00000389936.4_Missense_Mutation_p.S499Y			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AAGGATAAATCTTCTATGTTG	0.408																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(1495-1497)tCt>tAt		MGA, MAX dimerization protein							78.0	73.0	75.0					15																	41988704		1841	4091	5932	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:41988704C>A	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.1496C>A	15.37:g.41988704C>A	ENSP00000457035:p.Ser499Tyr					MGA_ENST00000570161.1_Missense_Mutation_p.S499Y|MGA_ENST00000566586.1_Missense_Mutation_p.S499Y|MGA_ENST00000389936.4_Missense_Mutation_p.S499Y|MGA_ENST00000568630.1_3'UTR|MGA_ENST00000545763.1_Missense_Mutation_p.S499Y	p.S499Y	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	3	1677	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	499					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.1496C>A	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332121	0.60853	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.86769	-2.15;-2.17;-2.1	4.63	4.63	0.57726	.	0.366225	0.25786	N	0.028317	D	0.89118	0.6624	L	0.32530	0.975	0.31248	N	0.694403	D;D	0.71674	0.994;0.998	D;D	0.77004	0.989;0.966	D	0.88509	0.3088	10	0.87932	D	0	.	12.59	0.56437	0.1661:0.8339:0.0:0.0	.	499;499	F5H7K2;E7ENI0	.;.	Y	499	ENSP00000219905:S499Y;ENSP00000374586:S499Y;ENSP00000442467:S499Y	ENSP00000219905:S499Y	S	+	2	0	MGA	39775996	0.995000	0.38212	0.992000	0.48379	0.992000	0.81027	3.204000	0.51082	2.128000	0.65567	0.462000	0.41574	TCT		0.408	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		17	70	1	0	0.00741294	1	0.00745135	17	70				
SMYD1	150572	broad.mit.edu	37	2	88367419	88367419	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr2:88367419C>G	ENST00000419482.2	+	1	121	c.36C>G	c.(34-36)ttC>ttG	p.F12L	SMYD1_ENST00000438570.1_Missense_Mutation_p.F12L|SMYD1_ENST00000444564.2_Missense_Mutation_p.F12L	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	12	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						TGGAGGTCTTCACCGCTGAGG	0.512																																						ENST00000419482.2																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(34-36)ttC>ttG		SET and MYND domain containing 1							210.0	232.0	225.0					2																	88367419		2203	4300	6503	SO:0001583	missense	150572				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr2:88367419C>G	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.36C>G	2.37:g.88367419C>G	ENSP00000393453:p.Phe12Leu					SMYD1_ENST00000444564.2_Missense_Mutation_p.F12L|SMYD1_ENST00000438570.1_Missense_Mutation_p.F12L	p.F12L	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN			1	121	+			12					A0AV30|A6NE13	Missense_Mutation	SNP	ENST00000419482.2	37	c.36C>G	CCDS33240.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952429	0.73787	.	.	ENSG00000115593	ENST00000419482;ENST00000444564;ENST00000438570	T;T;T	0.13778	2.56;2.56;2.56	5.85	4.05	0.47172	SET domain (1);	0.000000	0.85682	D	0.000000	T	0.36991	0.0987	M	0.82823	2.61	0.48632	D	0.999689	D;B	0.89917	1.0;0.261	D;B	0.65010	0.931;0.071	T	0.23084	-1.0198	10	0.62326	D	0.03	-19.2938	12.3499	0.55143	0.0:0.8624:0.0:0.1376	.	12;12	Q8NB12;C9JUP3	SMYD1_HUMAN;.	L	12	ENSP00000393453:F12L;ENSP00000407888:F12L;ENSP00000387482:F12L	ENSP00000393453:F12L	F	+	3	2	SMYD1	88148534	0.979000	0.34478	0.882000	0.34594	0.777000	0.43975	0.899000	0.28417	0.797000	0.33971	-0.126000	0.14955	TTC		0.512	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		80	242	0	0	0	1	0	80	242				
ENAM	10117	broad.mit.edu	37	4	71509073	71509073	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr4:71509073G>A	ENST00000396073.3	+	9	2211	c.1930G>A	c.(1930-1932)Gac>Aac	p.D644N	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	644					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AAATACCCCAGACCAGAAGGA	0.438																																						ENST00000396073.3																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.(1930-1932)Gac>Aac		enamelin							112.0	118.0	116.0					4																	71509073		2203	4300	6503	SO:0001583	missense	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71509073G>A	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.1930G>A	4.37:g.71509073G>A	ENSP00000379383:p.Asp644Asn					ENAM_ENST00000472903.1_Intron	p.D644N	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	2211	+			644					Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	c.1930G>A	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	G	12.10	1.836943	0.32421	.	.	ENSG00000132464	ENST00000396073	T	0.36520	1.25	5.77	3.06	0.35304	.	0.717383	0.13057	N	0.417166	T	0.36496	0.0969	M	0.63428	1.95	0.09310	N	1	B	0.25351	0.124	B	0.32624	0.149	T	0.33954	-0.9848	10	0.42905	T	0.14	-2.9977	6.878	0.24156	0.1603:0.1423:0.6973:0.0	.	644	Q9NRM1	ENAM_HUMAN	N	644	ENSP00000379383:D644N	ENSP00000379383:D644N	D	+	1	0	ENAM	71727937	0.020000	0.18652	0.775000	0.31657	0.971000	0.66376	0.420000	0.21263	0.771000	0.33359	0.655000	0.94253	GAC		0.438	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		43	126	0	0	0	1	0	43	126				
DNAH9	1770	broad.mit.edu	37	17	11833298	11833298	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:11833298C>A	ENST00000262442.4	+	63	12061	c.11993C>A	c.(11992-11994)cCt>cAt	p.P3998H	DNAH9_ENST00000608377.1_Missense_Mutation_p.P310H|DNAH9_ENST00000454412.2_Intron|DNAH9_ENST00000396001.2_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3998	AAA 6. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCACCCTCCCCTGAGGGCCAC	0.602																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(11992-11994)cCt>cAt		dynein, axonemal, heavy chain 9							79.0	60.0	66.0					17																	11833298		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11833298C>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.11993C>A	17.37:g.11833298C>A	ENSP00000262442:p.Pro3998His					DNAH9_ENST00000454412.2_Intron|DNAH9_ENST00000396001.2_Missense_Mutation_p.P310H	p.P3998H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	63	12061	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3998			AAA 6 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.11993C>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741594	0.69304	.	.	ENSG00000007174	ENST00000262442;ENST00000396001	T;T	0.26660	1.72;2.2	5.19	3.17	0.36434	Dynein heavy chain (1);	0.470634	0.24470	N	0.038246	T	0.42921	0.1224	M	0.85373	2.75	0.58432	D	0.999992	B	0.28378	0.209	B	0.43225	0.412	T	0.42899	-0.9424	10	0.72032	D	0.01	.	9.7864	0.40679	0.1405:0.7872:0.0:0.0723	.	3998	Q9NYC9	DYH9_HUMAN	H	3998;310	ENSP00000262442:P3998H;ENSP00000379323:P310H	ENSP00000262442:P3998H	P	+	2	0	DNAH9	11774023	0.092000	0.21681	0.972000	0.41901	0.907000	0.53573	3.158000	0.50723	0.740000	0.32651	0.563000	0.77884	CCT		0.602	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		13	27	1	0	0.00010058	1	0.000105473	13	27				
GIMAP2	26157	broad.mit.edu	37	7	150389761	150389761	+	Silent	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr7:150389761G>A	ENST00000223293.5	+	3	481	c.387G>A	c.(385-387)gtG>gtA	p.V129V		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	129	AIG1-type G.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	GTP binding (GO:0005525)			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACAGAGGGTGAAGGAGATCT	0.552																																						ENST00000223293.5																			0				kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13						c.(385-387)gtG>gtA		GTPase, IMAP family member 2							59.0	46.0	51.0					7																	150389761		2203	4300	6503	SO:0001819	synonymous_variant	26157					integral to membrane	GTP binding	g.chr7:150389761G>A	AL110151	CCDS5905.1	7q36.1	2014-04-04			ENSG00000106560	ENSG00000106560		"""GTPases, IMAP"""	21789	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 12"""	608085				15474311	Standard	NM_015660		Approved	DKFZp586D0824, HIMAP2, IMAP2, IAN12	uc003who.3	Q9UG22	OTTHUMG00000157488	ENST00000223293.5:c.387G>A	7.37:g.150389761G>A							p.V129V	NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	481	+			129					Q96L25	Silent	SNP	ENST00000223293.5	37	c.387G>A	CCDS5905.1																																																																																				0.552	GIMAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348948.1	NM_015660		21	34	0	0	0	1	0	21	34				
KLHL6	89857	broad.mit.edu	37	3	183273362	183273362	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr3:183273362G>C	ENST00000341319.3	-	1	115	c.80C>G	c.(79-81)tCt>tGt	p.S27C		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	27					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CTCATCTGTAGAAGGTGCCAG	0.522																																						ENST00000341319.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(79-81)tCt>tGt		kelch-like family member 6							112.0	123.0	119.0					3																	183273362		2203	4300	6503	SO:0001583	missense	89857							g.chr3:183273362G>C	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.80C>G	3.37:g.183273362G>C	ENSP00000341342:p.Ser27Cys						p.S27C	NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		1	115	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		27					B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	ENST00000341319.3	37	c.80C>G	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449576	0.43531	.	.	ENSG00000172578	ENST00000341319	T	0.74947	-0.89	5.54	4.55	0.56014	.	0.596506	0.17493	N	0.172269	T	0.52581	0.1743	N	0.14661	0.345	0.09310	N	1	P	0.36438	0.553	B	0.34824	0.19	T	0.47995	-0.9073	10	0.59425	D	0.04	.	3.6096	0.08055	0.3511:0.0:0.6489:0.0	.	27	Q8WZ60	KLHL6_HUMAN	C	27	ENSP00000341342:S27C	ENSP00000341342:S27C	S	-	2	0	KLHL6	184756056	0.050000	0.20438	0.011000	0.14972	0.919000	0.55068	2.504000	0.45416	2.599000	0.87857	0.643000	0.83706	TCT		0.522	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		46	196	0	0	0	1	0	46	196				
ANKRD30A	91074	broad.mit.edu	37	10	37419270	37419270	+	Silent	SNP	G	G	T	rs370367803		TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr10:37419270G>T	ENST00000602533.1	+	3	405	c.306G>T	c.(304-306)ctG>ctT	p.L102L	ANKRD30A_ENST00000374660.1_Silent_p.L102L|ANKRD30A_ENST00000361713.1_Silent_p.L102L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	158					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGGCAAAACTGCTGTCCCATG	0.378																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(304-306)ctG>ctT		ankyrin repeat domain 30A							80.0	73.0	75.0					10																	37419270		1930	4146	6076	SO:0001819	synonymous_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37419270G>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.306G>T	10.37:g.37419270G>T						ANKRD30A_ENST00000602533.1_Silent_p.L102L|ANKRD30A_ENST00000361713.1_Silent_p.L102L	p.L102L			Q9BXX3	AN30A_HUMAN			3	405	+			158					Q5W025	Silent	SNP	ENST00000602533.1	37	c.306G>T																																																																																					0.378	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		14	36	1	0	7.93312e-07	1	8.45618e-07	14	36				
THOC6	79228	broad.mit.edu	37	16	3076099	3076099	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr16:3076099G>A	ENST00000326266.8	+	4	552	c.256G>A	c.(256-258)Gat>Aat	p.D86N	HCFC1R1_ENST00000248089.3_5'Flank|HCFC1R1_ENST00000572355.1_5'Flank|THOC6_ENST00000253952.9_Missense_Mutation_p.D86N|THOC6_ENST00000575576.1_Missense_Mutation_p.D62N|HCFC1R1_ENST00000354679.3_5'Flank|THOC6_ENST00000574549.1_Missense_Mutation_p.D62N|HCFC1R1_ENST00000574980.1_5'Flank|HCFC1R1_ENST00000574151.1_5'Flank|HCFC1R1_ENST00000396916.1_5'Flank	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	86					apoptotic process (GO:0006915)|central nervous system development (GO:0007417)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						GGTTTCCACCGATCGACATCT	0.557																																						ENST00000326266.8																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						c.(256-258)Gat>Aat		THO complex 6 homolog (Drosophila)							148.0	156.0	154.0					16																	3076099		2198	4300	6498	SO:0001583	missense	79228				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding	g.chr16:3076099G>A	BC050674	CCDS10491.1, CCDS45392.1	16p13.3	2013-02-11	2006-03-02	2006-03-02		ENSG00000131652		"""WD repeat domain containing"", ""THO complex subunits"""	28369	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 35"""	615403	"""WD repeat domain 58"""	WDR58		12477932	Standard	NM_024339		Approved	MGC2655, fSAP35	uc002ctb.2	Q86W42		ENST00000326266.8:c.256G>A	16.37:g.3076099G>A	ENSP00000326531:p.Asp86Asn					THOC6_ENST00000574549.1_Missense_Mutation_p.D62N|THOC6_ENST00000253952.9_Missense_Mutation_p.D86N|THOC6_ENST00000575576.1_Missense_Mutation_p.D62N	p.D86N	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN			4	552	+			86					B2RA85|Q8NBR1|Q9BTV9	Missense_Mutation	SNP	ENST00000326266.8	37	c.256G>A	CCDS10491.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384319	0.42308	.	.	ENSG00000131652	ENST00000326266;ENST00000253952	T;T	0.28255	1.62;1.62	5.55	5.55	0.83447	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.200195	0.51477	D	0.000087	T	0.27832	0.0685	L	0.55481	1.735	0.54753	D	0.999989	P;P	0.42296	0.675;0.775	B;B	0.30716	0.095;0.119	T	0.09552	-1.0669	10	0.44086	T	0.13	-23.2803	16.9895	0.86349	0.0:0.0:1.0:0.0	.	86;86	Q86W42-3;Q86W42	.;THOC6_HUMAN	N	86	ENSP00000326531:D86N;ENSP00000253952:D86N	ENSP00000253952:D86N	D	+	1	0	THOC6	3016100	1.000000	0.71417	0.314000	0.25224	0.813000	0.45954	8.054000	0.89451	2.620000	0.88729	0.561000	0.74099	GAT		0.557	THOC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436981.1	NM_024339		66	139	0	0	0	1	0	66	139				
L3MBTL2	83746	broad.mit.edu	37	22	41620989	41620989	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr22:41620989G>C	ENST00000216237.5	+	11	1428	c.1270G>C	c.(1270-1272)Gaa>Caa	p.E424Q		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	424					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGTCTACACAGAAGGCGGTTG	0.592																																						ENST00000216237.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1270-1272)Gaa>Caa		l(3)mbt-like 2 (Drosophila)							169.0	155.0	160.0					22																	41620989		2203	4300	6503	SO:0001583	missense	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41620989G>C	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.1270G>C	22.37:g.41620989G>C	ENSP00000216237:p.Glu424Gln						p.E424Q	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN			11	1428	+			424					Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	37	c.1270G>C	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699589	0.68501	.	.	ENSG00000100395	ENST00000216237	T	0.42900	0.96	5.52	4.51	0.55191	.	0.258318	0.45361	D	0.000370	T	0.40670	0.1126	L	0.36672	1.1	0.42968	D	0.994429	P;P	0.50528	0.936;0.813	P;P	0.50192	0.634;0.482	T	0.12941	-1.0528	10	0.15066	T	0.55	.	14.1001	0.65049	0.0721:0.0:0.9278:0.0	.	424;424	Q969R5-3;Q969R5	.;LMBL2_HUMAN	Q	424	ENSP00000216237:E424Q	ENSP00000216237:E424Q	E	+	1	0	L3MBTL2	39950935	0.998000	0.40836	0.983000	0.44433	0.974000	0.67602	3.173000	0.50839	1.336000	0.45506	0.561000	0.74099	GAA		0.592	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		30	41	0	0	0	1	0	30	41				
BAG3	9531	broad.mit.edu	37	10	121411304	121411304	+	Silent	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr10:121411304C>T	ENST00000369085.3	+	1	423	c.117C>T	c.(115-117)ttC>ttT	p.F39F		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	39	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of apoptotic process (GO:0043066)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|Z disc (GO:0030018)				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GGCCCTTCTTCGTGGACCACA	0.706																																						ENST00000369085.3																			0				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(115-117)ttC>ttT		BCL2-associated athanogene 3							25.0	22.0	23.0					10																	121411304		2191	4287	6478	SO:0001819	synonymous_variant	9531				anti-apoptosis|apoptosis|protein folding	cytosol		g.chr10:121411304C>T	AF095193	CCDS7615.1	10q25.2-q26.2	2014-09-17			ENSG00000151929	ENSG00000151929			939	protein-coding gene	gene with protein product		603883				9873016, 18094623	Standard	XM_005270287		Approved		uc001lem.3	O95817	OTTHUMG00000019155	ENST00000369085.3:c.117C>T	10.37:g.121411304C>T							p.F39F	NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)	1	423	+		Lung NSC(174;0.109)|all_lung(145;0.142)	39			WW 1.		A8K5L8|Q3B763|Q9NT20|Q9P120	Silent	SNP	ENST00000369085.3	37	c.117C>T	CCDS7615.1																																																																																				0.706	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050662.1	NM_004281		16	28	0	0	0	1	0	16	28				
CSPG4	1464	broad.mit.edu	37	15	75980260	75980260	+	Missense_Mutation	SNP	G	G	A	rs531178999	byFrequency	TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr15:75980260G>A	ENST00000308508.5	-	3	3238	c.3146C>T	c.(3145-3147)tCg>tTg	p.S1049L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1049	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AGCAAAGCCCGAGTCAGCATC	0.647													G|||	3	0.000599042	0.0	0.0	5008	,	,		19866	0.003		0.0	False		,,,				2504	0.0					ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(3145-3147)tCg>tTg		chondroitin sulfate proteoglycan 4							50.0	53.0	52.0					15																	75980260		2197	4292	6489	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75980260G>A	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.3146C>T	15.37:g.75980260G>A	ENSP00000312506:p.Ser1049Leu						p.S1049L	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	3238	-			1049			Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.3146C>T	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	14.65	2.597928	0.46318	.	.	ENSG00000173546	ENST00000308508	T	0.46451	0.87	4.89	3.97	0.46021	.	0.112995	0.40469	N	0.001093	T	0.62405	0.2425	M	0.75777	2.31	0.48762	D	0.999706	D	0.89917	1.0	D	0.83275	0.996	T	0.64550	-0.6381	10	0.54805	T	0.06	.	12.1566	0.54081	0.083:0.0:0.917:0.0	.	1049	Q6UVK1	CSPG4_HUMAN	L	1049	ENSP00000312506:S1049L	ENSP00000312506:S1049L	S	-	2	0	CSPG4	73767315	1.000000	0.71417	0.431000	0.26735	0.804000	0.45430	5.833000	0.69349	1.054000	0.40438	0.555000	0.69702	TCG		0.647	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		39	105	0	0	0	1	0	39	105				
SPAG9	9043	broad.mit.edu	37	17	49059980	49059980	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:49059980G>A	ENST00000262013.7	-	25	3350	c.3142C>T	c.(3142-3144)Cat>Tat	p.H1048Y	SPAG9_ENST00000510283.1_Missense_Mutation_p.H891Y|SPAG9_ENST00000505279.1_Missense_Mutation_p.H1038Y|SPAG9_ENST00000357122.4_Missense_Mutation_p.H1034Y	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	1048					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CGGATGGAATGATGAGGCCGT	0.413																																						ENST00000262013.7																			0				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(3142-3144)Cat>Tat		sperm associated antigen 9							142.0	135.0	138.0					17																	49059980		2203	4300	6503	SO:0001583	missense	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49059980G>A	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.3142C>T	17.37:g.49059980G>A	ENSP00000262013:p.His1048Tyr					SPAG9_ENST00000510283.1_Missense_Mutation_p.H891Y|SPAG9_ENST00000505279.1_Missense_Mutation_p.H1038Y|SPAG9_ENST00000357122.4_Missense_Mutation_p.H1034Y	p.H1048Y	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		25	3350	-			1048					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	c.3142C>T	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696199	0.68386	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000357791;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.83	5.83	0.93111	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.090425	0.85682	D	0.000000	T	0.29288	0.0729	L	0.39245	1.2	0.58432	D	0.999998	P;P;B;P	0.41524	0.593;0.458;0.415;0.753	B;B;B;B	0.39027	0.187;0.15;0.124;0.288	T	0.01914	-1.1248	10	0.18710	T	0.47	-16.9579	20.1218	0.97964	0.0:0.0:1.0:0.0	.	1038;1048;1034;891	O60271-2;O60271;O60271-4;E7ENU2	.;JIP4_HUMAN;.;.	Y	1048;805;795;585;891;1038;1034;646	ENSP00000262013:H1048Y;ENSP00000423165:H891Y;ENSP00000426900:H1038Y;ENSP00000349636:H1034Y	ENSP00000262013:H1048Y	H	-	1	0	SPAG9	46414979	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.970000	0.88000	2.763000	0.94921	0.561000	0.74099	CAT		0.413	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		4	106	0	0	0	1	0	4	106				
SLC39A11	201266	broad.mit.edu	37	17	70645094	70645094	+	Silent	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:70645094C>T	ENST00000542342.2	-	9	886	c.798G>A	c.(796-798)ggG>ggA	p.G266G	SLC39A11_ENST00000579988.1_5'UTR|SLC39A11_ENST00000255559.3_Silent_p.G259G	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11	266					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CGCTCAGCTGCCCATACCTAA	0.622																																					NSCLC(95;736 1527 12296 39625 41839)	ENST00000542342.2																			0				endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(796-798)ggG>ggA		solute carrier family 39, member 11							29.0	29.0	29.0					17																	70645094		2201	4299	6500	SO:0001819	synonymous_variant	201266				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr17:70645094C>T	AF331643	CCDS11690.1, CCDS54160.1	17q24.3-q25.1	2014-08-12	2013-07-17	2003-10-24	ENSG00000133195	ENSG00000133195		"""Solute carriers"""	14463	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 26"""	C17orf26		11707075	Standard	NM_139177		Approved		uc002jjb.3	Q8N1S5	OTTHUMG00000178306	ENST00000542342.2:c.798G>A	17.37:g.70645094C>T						SLC39A11_ENST00000579988.1_5'UTR|SLC39A11_ENST00000255559.3_Silent_p.G259G	p.G266G	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN			9	886	-			266					B2R8H7|Q8WZ81	Silent	SNP	ENST00000542342.2	37	c.798G>A	CCDS54160.1																																																																																				0.622	SLC39A11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441442.1			7	14	0	0	0	1	0	7	14				
SNX10	29887	broad.mit.edu	37	7	26412152	26412152	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr7:26412152C>T	ENST00000338523.4	+	7	753	c.566C>T	c.(565-567)tCa>tTa	p.S189L	AC004540.4_ENST00000451368.1_RNA|SNX10_ENST00000396376.1_Missense_Mutation_p.S189L|SNX10_ENST00000409367.1_Missense_Mutation_p.S149L|AC004540.4_ENST00000451264.1_RNA|SNX10_ENST00000462993.1_3'UTR|SNX10_ENST00000409838.1_Missense_Mutation_p.S105L|SNX10_ENST00000446848.2_Missense_Mutation_p.S215L	NM_001199835.1|NM_013322.2	NP_001186764.1|NP_037454.2	Q9Y5X0	SNX10_HUMAN	sorting nexin 10	189					cilium assembly (GO:0042384)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|osteoclast differentiation (GO:0030316)|protein localization to centrosome (GO:0071539)|protein localization to cilium (GO:0061512)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extrinsic component of endosome membrane (GO:0031313)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|ATPase binding (GO:0051117)			endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	6						GACAGCAGTTCACATGGATGT	0.373																																						ENST00000338523.4																			0				endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	6						c.(565-567)tCa>tTa		sorting nexin 10							159.0	169.0	166.0					7																	26412152		2203	4300	6503	SO:0001583	missense	29887				cell communication|endosome organization|protein transport	extrinsic to endosome membrane	1-phosphatidylinositol binding	g.chr7:26412152C>T	AF121860	CCDS5399.1, CCDS56470.1	7p15.2	2008-05-22			ENSG00000086300	ENSG00000086300		"""Sorting nexins"""	14974	protein-coding gene	gene with protein product		614780				17012226	Standard	NM_013322		Approved		uc010kuu.3	Q9Y5X0	OTTHUMG00000023650	ENST00000338523.4:c.566C>T	7.37:g.26412152C>T	ENSP00000343709:p.Ser189Leu					SNX10_ENST00000409838.1_Missense_Mutation_p.S105L|SNX10_ENST00000446848.2_Missense_Mutation_p.S215L|SNX10_ENST00000396376.1_Missense_Mutation_p.S189L|SNX10_ENST00000462993.1_3'UTR|SNX10_ENST00000409367.1_Missense_Mutation_p.S149L|AC004540.4_ENST00000451368.1_RNA|AC004540.4_ENST00000451264.1_RNA	p.S189L	NM_001199835.1|NM_013322.2	NP_001186764.1|NP_037454.2	Q9Y5X0	SNX10_HUMAN			7	753	+			189					E9PFH5|Q8IYT5	Missense_Mutation	SNP	ENST00000338523.4	37	c.566C>T	CCDS5399.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.233705	0.39498	.	.	ENSG00000086300	ENST00000338523;ENST00000446848;ENST00000396376;ENST00000409367;ENST00000409838	T;T;T;T;T	0.64260	0.5;0.46;0.5;-0.09;0.88	5.33	5.33	0.75918	.	0.682462	0.14583	N	0.310709	T	0.52419	0.1733	L	0.36672	1.1	0.36174	D	0.848974	B;B	0.24186	0.099;0.0	B;B	0.14578	0.011;0.0	T	0.57711	-0.7764	10	0.51188	T	0.08	.	12.3853	0.55328	0.0:0.9229:0.0:0.0771	.	215;189	B4DJM0;Q9Y5X0	.;SNX10_HUMAN	L	189;215;189;149;105	ENSP00000343709:S189L;ENSP00000395474:S215L;ENSP00000379661:S189L;ENSP00000387274:S149L;ENSP00000386540:S105L	ENSP00000343709:S189L	S	+	2	0	SNX10	26378677	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.757000	0.55212	2.470000	0.83445	0.650000	0.86243	TCA		0.373	SNX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214120.1			77	143	0	0	0	1	0	77	143				
CCDC88C	440193	broad.mit.edu	37	14	91804414	91804414	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr14:91804414C>G	ENST00000389857.6	-	10	1071	c.985G>C	c.(985-987)Gag>Cag	p.E329Q		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	329					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				AGCTCCAGCTCCAGCCTCTCC	0.642																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(985-987)Gag>Cag		coiled-coil domain containing 88C							45.0	51.0	49.0					14																	91804414		2117	4237	6354	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91804414C>G		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.985G>C	14.37:g.91804414C>G	ENSP00000374507:p.Glu329Gln						p.E329Q	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			10	1071	-		all_cancers(154;0.0468)	329					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.985G>C	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	C	36	5.634176	0.96682	.	.	ENSG00000015133	ENST00000389857	T	0.35048	1.33	5.36	5.36	0.76844	.	0.000000	0.48767	U	0.000164	T	0.61173	0.2326	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63989	-0.6512	10	0.87932	D	0	-32.8771	19.075	0.93158	0.0:1.0:0.0:0.0	.	329	Q9P219	DAPLE_HUMAN	Q	329	ENSP00000374507:E329Q	ENSP00000374507:E329Q	E	-	1	0	CCDC88C	90874167	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.818000	0.86416	2.521000	0.84997	0.561000	0.74099	GAG		0.642	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		19	44	0	0	0	1	0	19	44				
TMF1	7110	broad.mit.edu	37	3	69101126	69101126	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr3:69101126A>T	ENST00000398559.2	-	1	328	c.112T>A	c.(112-114)Tgg>Agg	p.W38R	CTD-2013N24.2_ENST00000595925.1_RNA|MIR3136_ENST00000583498.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.W38R			P82094	TMF1_HUMAN	TATA element modulatory factor 1	38					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)		GTCTCGGCCCAGATGCTCGGC	0.602																																						ENST00000543976.1																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(112-114)Tgg>Agg		TATA element modulatory factor 1							76.0	82.0	80.0					3																	69101126		1906	4128	6034	SO:0001583	missense	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69101126A>T		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.112T>A	3.37:g.69101126A>T	ENSP00000381567:p.Trp38Arg					TMF1_ENST00000398559.2_Missense_Mutation_p.W38R|CTD-2013N24.2_ENST00000595925.1_RNA	p.W38R	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)	1	358	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	38					B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	ENST00000398559.2	37	c.112T>A	CCDS43105.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.196805	0.79015	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248;ENST00000438636	T;T	0.18810	2.19;2.19	5.31	5.31	0.75309	.	0.052398	0.85682	D	0.000000	T	0.38612	0.1047	M	0.71581	2.175	0.80722	D	1	P;D	0.61080	0.865;0.989	P;P	0.61477	0.485;0.889	T	0.15122	-1.0448	10	0.19147	T	0.46	-4.5144	12.1297	0.53936	0.8569:0.1431:0.0:0.0	.	38;38	P82094-2;P82094	.;TMF1_HUMAN	R	38	ENSP00000381567:W38R;ENSP00000438706:W38R	ENSP00000348582:W38R	W	-	1	0	TMF1	69183816	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.682000	0.61671	2.127000	0.65507	0.482000	0.46254	TGG		0.602	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		48	36	0	0	0	1	0	48	36				
MSL2	55167	broad.mit.edu	37	3	135870279	135870279	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr3:135870279G>A	ENST00000309993.2	-	2	2176	c.1444C>T	c.(1444-1446)Cct>Tct	p.P482S	MSL2_ENST00000434835.2_Missense_Mutation_p.P408S	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	482					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						GAGTAGCAAGGGCAGCGTTGG	0.483																																						ENST00000309993.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(1444-1446)Cct>Tct		male-specific lethal 2 homolog (Drosophila)							57.0	55.0	56.0					3																	135870279		2203	4300	6503	SO:0001583	missense	55167				histone H4-K16 acetylation	MSL complex	zinc ion binding	g.chr3:135870279G>A	AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"""RING-type (C3HC4) zinc fingers"""	25544	protein-coding gene	gene with protein product	"""male-specific lethal-2 homolog (Drosophila)"""	614802	"""ring finger protein 184"", ""male-specific lethal 2-like 1 (Drosophila)"""	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.1444C>T	3.37:g.135870279G>A	ENSP00000311827:p.Pro482Ser					MSL2_ENST00000434835.2_Missense_Mutation_p.P408S	p.P482S	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN			2	2176	-			482					B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Missense_Mutation	SNP	ENST00000309993.2	37	c.1444C>T	CCDS33861.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.768962	0.69992	.	.	ENSG00000174579	ENST00000309993;ENST00000434835	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.83552	0.5279	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84305	0.0507	9	0.62326	D	0.03	-7.5651	19.1813	0.93625	0.0:0.0:1.0:0.0	.	482	Q9HCI7	MSL2_HUMAN	S	482;408	.	ENSP00000311827:P482S	P	-	1	0	MSL2	137352969	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.866000	0.99616	2.771000	0.95319	0.563000	0.77884	CCT		0.483	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357347.1	NM_018133		12	39	0	0	0	1	0	12	39				
TRBV5-4	28611	broad.mit.edu	37	7	142168862	142168862	+	RNA	SNP	A	A	G			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr7:142168862A>G	ENST00000454561.2	-	0	183									T cell receptor beta variable 5-4																		TGGGCCAGGCAGCACTGCACC	0.597																																						ENST00000454561.2																			0																				28.0	28.0	28.0					7																	142168862		1933	4131	6064			28611							g.chr7:142168862A>G	L36092		7q34	2012-02-07			ENSG00000230099	ENSG00000230099		"""T cell receptors / TRB locus"""	12221	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV54, TCRBV5S4, TCRBV5S6A3N2T			OTTHUMG00000158524		7.37:g.142168862A>G														0	183	-									RNA	SNP	ENST00000454561.2	37																																																																																						0.597	TRBV5-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351230.2	NG_001333		6	30	0	0	0	1	0	6	30				
CORO2A	7464	broad.mit.edu	37	9	100899883	100899883	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr9:100899883C>G	ENST00000343933.5	-	3	546	c.289G>C	c.(289-291)Gag>Cag	p.E97Q	CORO2A_ENST00000375077.4_Missense_Mutation_p.E97Q	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	97					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GAGGCGATCTCAAAATCATCA	0.542																																						ENST00000343933.5																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26						c.(289-291)Gag>Cag		coronin, actin binding protein, 2A							133.0	128.0	129.0					9																	100899883		2203	4300	6503	SO:0001583	missense	7464				actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding	g.chr9:100899883C>G	U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"""Coronins"", ""WD repeat domain containing"""	2255	protein-coding gene	gene with protein product	"""coronin 2A"", ""coronin-like protein B"", ""WD protein IR10"", ""WD-repeat protein 2"""	602159	"""coronin, actin-binding protein, 2A"""			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.289G>C	9.37:g.100899883C>G	ENSP00000343746:p.Glu97Gln					CORO2A_ENST00000375077.4_Missense_Mutation_p.E97Q	p.E97Q	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN			3	546	-		Acute lymphoblastic leukemia(62;0.0559)	97					Q5TBR5|Q92829|Q9BWS5	Missense_Mutation	SNP	ENST00000343933.5	37	c.289G>C	CCDS6735.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225674	0.58668	.	.	ENSG00000106789	ENST00000343933;ENST00000375077	T;T	0.59364	0.27;0.27	4.58	3.66	0.41972	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.171732	0.51477	D	0.000097	T	0.38612	0.1047	N	0.03294	-0.36	0.26380	N	0.976752	P	0.34639	0.461	B	0.40602	0.334	T	0.38520	-0.9657	10	0.37606	T	0.19	-18.7126	13.7601	0.62961	0.0:0.8442:0.1558:0.0	.	97	Q92828	COR2A_HUMAN	Q	97	ENSP00000343746:E97Q;ENSP00000364218:E97Q	ENSP00000343746:E97Q	E	-	1	0	CORO2A	99939704	0.577000	0.26708	0.986000	0.45419	0.838000	0.47535	0.431000	0.21444	1.244000	0.43870	0.561000	0.74099	GAG		0.542	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053357.1	NM_003389		56	127	0	0	0	1	0	56	127				
ZNF684	127396	broad.mit.edu	37	1	41012549	41012549	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:41012549A>C	ENST00000372699.3	+	5	805	c.554A>C	c.(553-555)aAa>aCa	p.K185T	ZNF684_ENST00000493756.1_3'UTR	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	185					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(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			ACAAGGAAAAAACCTTTTGAA	0.368																																						ENST00000372699.3																			0				breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(553-555)aAa>aCa		zinc finger protein 684							49.0	50.0	50.0					1																	41012549		2203	4300	6503	SO:0001583	missense	127396				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:41012549A>C		CCDS454.1	1p34.2	2013-01-08			ENSG00000117010	ENSG00000117010		"""Zinc fingers, C2H2-type"", ""-"""	28418	protein-coding gene	gene with protein product	"""hypothetical protein MGC27466"""					12477932	Standard	NM_152373		Approved	MGC27466	uc001cft.2	Q5T5D7	OTTHUMG00000007359	ENST00000372699.3:c.554A>C	1.37:g.41012549A>C	ENSP00000361784:p.Lys185Thr					ZNF684_ENST00000493756.1_3'UTR	p.K185T	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)		5	805	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	185					Q2NKY4	Missense_Mutation	SNP	ENST00000372699.3	37	c.554A>C	CCDS454.1	.	.	.	.	.	.	.	.	.	.	A	16.21	3.059709	0.55325	.	.	ENSG00000117010	ENST00000372699	T	0.08458	3.09	4.04	4.04	0.47022	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37178	N	0.002206	T	0.25568	0.0622	M	0.85099	2.735	0.80722	D	1	D	0.62365	0.991	P	0.58013	0.831	T	0.03818	-1.1001	10	0.66056	D	0.02	.	11.2679	0.49120	1.0:0.0:0.0:0.0	.	185	Q5T5D7	ZN684_HUMAN	T	185	ENSP00000361784:K185T	ENSP00000361784:K185T	K	+	2	0	ZNF684	40785136	0.002000	0.14202	0.612000	0.29024	0.941000	0.58515	-0.270000	0.08584	1.842000	0.53543	0.477000	0.44152	AAA		0.368	ZNF684-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019260.3	NM_152373		14	38	0	0	0	1	0	14	38				
AGT	183	broad.mit.edu	37	1	230846356	230846356	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:230846356C>T	ENST00000366667.4	-	2	455	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	RP11-99J16__A.2_ENST00000412344.1_RNA	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	81					activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGGCCTTTTCATCCACAGGG	0.562																																						ENST00000366667.4																			0				endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25						c.(241-243)Gaa>Aaa		angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)						87.0	88.0	88.0					1																	230846356		2203	4300	6503	SO:0001583	missense	183				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding	g.chr1:230846356C>T	K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"""Serine (or cysteine) peptidase inhibitors"", ""Endogenous ligands"""	333	protein-coding gene	gene with protein product	"""alpha-1 antiproteinase, antitrypsin"""	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.241G>A	1.37:g.230846356C>T	ENSP00000355627:p.Glu81Lys						p.E81K	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	2	455	-	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)	81					Q16358|Q16359|Q96F91	Missense_Mutation	SNP	ENST00000366667.4	37	c.241G>A	CCDS1585.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632818	0.67015	.	.	ENSG00000135744	ENST00000366667;ENST00000430091	D	0.82619	-1.63	5.19	5.19	0.71726	Serpin domain (1);	0.000000	0.64402	D	0.000006	D	0.90755	0.7098	M	0.69823	2.125	0.54753	D	0.999984	D;D	0.89917	1.0;1.0	D;D	0.87578	0.984;0.998	D	0.90731	0.4642	10	0.52906	T	0.07	.	19.0643	0.93104	0.0:1.0:0.0:0.0	.	81;81	B2R5S1;P01019	.;ANGT_HUMAN	K	81	ENSP00000355627:E81K	ENSP00000355627:E81K	E	-	1	0	AGT	228912979	0.997000	0.39634	0.911000	0.35937	0.049000	0.14656	4.938000	0.63519	2.574000	0.86865	0.561000	0.74099	GAA		0.562	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1	NM_000029		25	55	0	0	0	1	0	25	55				
CYB5R2	51700	broad.mit.edu	37	11	7694000	7694000	+	Silent	SNP	C	C	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr11:7694000C>A	ENST00000533558.1	-	2	613	c.57G>T	c.(55-57)ccG>ccT	p.P19P	CYB5R2_ENST00000299498.6_Silent_p.P19P|CYB5R2_ENST00000299497.9_Silent_p.P19P|CYB5R2_ENST00000524790.1_Silent_p.P19P			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	19	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				oxidation-reduction process (GO:0055114)|sterol biosynthetic process (GO:0016126)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCAAGGGCAGCGGGTACTTGG	0.552																																						ENST00000533558.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						c.(55-57)ccG>ccT		cytochrome b5 reductase 2							176.0	143.0	154.0					11																	7694000		2201	4296	6497	SO:0001819	synonymous_variant	51700				sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity	g.chr11:7694000C>A	AF169802	CCDS7780.1	11p15.4	2014-08-12			ENSG00000166394	ENSG00000166394	1.6.2.2		24376	protein-coding gene	gene with protein product		608342				10611283	Standard	XM_005252973		Approved		uc001mfm.3	Q6BCY4	OTTHUMG00000165665	ENST00000533558.1:c.57G>T	11.37:g.7694000C>A						CYB5R2_ENST00000524790.1_Silent_p.P19P|CYB5R2_ENST00000299498.6_Silent_p.P19P|CYB5R2_ENST00000299497.9_Silent_p.P19P	p.P19P			Q6BCY4	NB5R2_HUMAN		Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	613	-			19			FAD-binding FR-type.		Q9BVA3|Q9UF68|Q9UHJ0	Silent	SNP	ENST00000533558.1	37	c.57G>T	CCDS7780.1																																																																																				0.552	CYB5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385679.1	NM_016229		9	46	1	0	1.08611e-07	1	1.17712e-07	9	46				
ZNF521	25925	broad.mit.edu	37	18	22804708	22804708	+	Silent	SNP	G	G	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr18:22804708G>T	ENST00000361524.3	-	4	3322	c.3174C>A	c.(3172-3174)ggC>ggA	p.G1058G	ZNF521_ENST00000584787.1_Silent_p.G838G|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Silent_p.G1058G	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1058					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GGACGTGCTGGCCCCGCCCTG	0.502			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(3172-3174)ggC>ggA		zinc finger protein 521							74.0	60.0	65.0					18																	22804708		2203	4300	6503	SO:0001819	synonymous_variant	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22804708G>T	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3174C>A	18.37:g.22804708G>T						ZNF521_ENST00000584787.1_Silent_p.G838G|ZNF521_ENST00000538137.2_Silent_p.G1058G	p.G1058G	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	3322	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		1058					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	37	c.3174C>A	CCDS32806.1																																																																																				0.502	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		15	33	1	0	1.05317e-09	1	1.17422e-09	15	33				
ECE2	9718	broad.mit.edu	37	3	184003327	184003327	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr3:184003327C>T	ENST00000402825.3	+	10	1564	c.1564C>T	c.(1564-1566)Cgc>Tgc	p.R522C	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.R404C|ECE2_ENST00000357474.5_Missense_Mutation_p.R450C|ECE2_ENST00000359140.4_Missense_Mutation_p.R375C	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	522	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCTGGACCGACGCTTTGAGTC	0.498																																						ENST00000402825.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49						c.(1564-1566)Cgc>Tgc		endothelin converting enzyme 2							125.0	118.0	120.0					3																	184003327		2203	4300	6503	SO:0001583	missense	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:184003327C>T	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.1564C>T	3.37:g.184003327C>T	ENSP00000384223:p.Arg522Cys					ECE2_ENST00000404464.3_Missense_Mutation_p.R404C|ECE2_ENST00000359140.4_Missense_Mutation_p.R375C|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.R450C	p.R522C	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		10	1564	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		522			Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.1564C>T	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	C	18.07	3.542581	0.65198	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66	4.23	4.23	0.50019	Peptidase M13 (1);	0.000000	0.85682	D	0.000000	D	0.92251	0.7542	M	0.90425	3.115	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	0.998;0.999;0.999;0.956;0.998;0.997;1.0	D	0.93772	0.7076	10	0.66056	D	0.02	-13.1289	15.3347	0.74241	0.0:1.0:0.0:0.0	.	124;375;393;404;450;375;522	B4DHU4;B4DKF3;B4DF19;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;.;ECE2_HUMAN	C	522;375;404;450;396	ENSP00000384223:R522C;ENSP00000352052:R375C;ENSP00000385846:R404C;ENSP00000350066:R450C;ENSP00000398444:R396C	ENSP00000350066:R450C	R	+	1	0	ECE2	185486021	0.984000	0.35163	0.981000	0.43875	0.990000	0.78478	1.278000	0.33179	2.206000	0.71126	0.467000	0.42956	CGC		0.498	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		53	56	0	0	0	1	0	53	56				
BTBD7	55727	broad.mit.edu	37	14	93712182	93712182	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr14:93712182C>A	ENST00000334746.5	-	10	2879	c.2572G>T	c.(2572-2574)Gag>Tag	p.E858*	BTBD7_ENST00000393170.2_Nonsense_Mutation_p.E432*|BTBD7_ENST00000554565.1_Nonsense_Mutation_p.E507*	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	858					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		ACTTGCTTCTCAGAtgctgct	0.532																																						ENST00000334746.5																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(2572-2574)Gag>Tag		BTB (POZ) domain containing 7							26.0	29.0	28.0					14																	93712182		2198	4296	6494	SO:0001587	stop_gained	55727							g.chr14:93712182C>A	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.2572G>T	14.37:g.93712182C>A	ENSP00000335615:p.Glu858*					BTBD7_ENST00000393170.2_Nonsense_Mutation_p.E432*|BTBD7_ENST00000554565.1_Nonsense_Mutation_p.E507*	p.E858*	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	10	2879	-		all_cancers(154;0.08)	858					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Nonsense_Mutation	SNP	ENST00000334746.5	37	c.2572G>T	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	C	36	5.613882	0.96637	.	.	ENSG00000011114	ENST00000334746;ENST00000554565;ENST00000553975;ENST00000393170	.	.	.	5.73	5.73	0.89815	.	0.403672	0.29444	N	0.012133	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.8942	0.96945	0.0:1.0:0.0:0.0	.	.	.	.	X	858;507;473;432	.	ENSP00000335615:E858X	E	-	1	0	BTBD7	92781935	1.000000	0.71417	0.959000	0.39883	0.500000	0.33767	5.006000	0.63978	2.708000	0.92522	0.650000	0.86243	GAG		0.532	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		19	41	1	0	1.67942e-08	1	1.85117e-08	19	41				
VPS25	84313	broad.mit.edu	37	17	40925508	40925508	+	Silent	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:40925508C>T	ENST00000253794.2	+	1	55	c.15C>T	c.(13-15)ttC>ttT	p.F5F		NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)	5					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CGATGAGTTTCGAGTGGCCGT	0.622																																						ENST00000253794.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5						c.(13-15)ttC>ttT		vacuolar protein sorting 25 homolog (S. cerevisiae)							182.0	155.0	164.0					17																	40925508		2203	4300	6503	SO:0001819	synonymous_variant	84313				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endosome membrane|nucleoplasm		g.chr17:40925508C>T	AB014763	CCDS11438.1	17q21.31	2014-02-12	2006-04-04		ENSG00000131475	ENSG00000131475			28122	protein-coding gene	gene with protein product		610907	"""vacuolar protein sorting 25 (yeast)"""			15511219	Standard	NM_032353		Approved	MGC10540, EAP20, DERP9	uc002ibi.3	Q9BRG1		ENST00000253794.2:c.15C>T	17.37:g.40925508C>T							p.F5F	NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0745)	1	55	+		Breast(137;0.00104)	5					B2R581	Silent	SNP	ENST00000253794.2	37	c.15C>T	CCDS11438.1																																																																																				0.622	VPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452383.1	NM_032353		47	105	0	0	0	1	0	47	105				
POGZ	23126	broad.mit.edu	37	1	151378561	151378561	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:151378561C>A	ENST00000271715.2	-	19	3264	c.2950G>T	c.(2950-2952)Gct>Tct	p.A984S	POGZ_ENST00000368863.2_Missense_Mutation_p.A889S|POGZ_ENST00000409503.1_Missense_Mutation_p.A975S|POGZ_ENST00000361398.3_Missense_Mutation_p.A931S|POGZ_ENST00000491586.1_Missense_Mutation_p.A940S|POGZ_ENST00000540984.1_Missense_Mutation_p.A346S|POGZ_ENST00000531094.1_Missense_Mutation_p.A922S|POGZ_ENST00000392723.1_Missense_Mutation_p.A931S	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	984					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCATAGAGCAAACAGTACT	0.532																																						ENST00000271715.2																			0				NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47						c.(2950-2952)Gct>Tct		pogo transposable element with ZNF domain							91.0	84.0	86.0					1																	151378561		2203	4300	6503	SO:0001583	missense	23126				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	g.chr1:151378561C>A	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.2950G>T	1.37:g.151378561C>A	ENSP00000271715:p.Ala984Ser					POGZ_ENST00000368863.2_Missense_Mutation_p.A889S|POGZ_ENST00000361398.3_Missense_Mutation_p.A931S|POGZ_ENST00000531094.1_Missense_Mutation_p.A922S|POGZ_ENST00000491586.1_Missense_Mutation_p.A940S|POGZ_ENST00000540984.1_Missense_Mutation_p.A346S|POGZ_ENST00000409503.1_Missense_Mutation_p.A975S|POGZ_ENST00000392723.1_Missense_Mutation_p.A931S	p.A984S	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		19	3264	-	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		984					B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	37	c.2950G>T	CCDS997.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080423	0.76528	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586	T;T;T;T;T;T;T;T	0.42131	4.94;4.93;4.94;4.77;4.93;4.91;0.98;4.4	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000005	T	0.37705	0.1013	N	0.08118	0	0.58432	D	0.999997	D;D;D;D;D;D	0.76494	0.984;0.999;0.996;0.996;0.99;0.984	D;D;D;D;D;D	0.76071	0.956;0.987;0.987;0.987;0.98;0.956	T	0.54589	-0.8271	10	0.87932	D	0	-18.2302	18.0215	0.89255	0.0:1.0:0.0:0.0	.	922;975;889;940;931;984	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	S	931;984;931;889;975;922;346;940	ENSP00000376484:A931S;ENSP00000271715:A984S;ENSP00000354467:A931S;ENSP00000357856:A889S;ENSP00000386836:A975S;ENSP00000431259:A922S;ENSP00000443547:A346S;ENSP00000418408:A940S	ENSP00000271715:A984S	A	-	1	0	POGZ	149645185	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.302000	0.65733	2.607000	0.88179	0.655000	0.94253	GCT		0.532	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		25	64	1	0	6.21321e-17	1	7.13233e-17	25	64				
FAM171B	165215	broad.mit.edu	37	2	187611928	187611928	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr2:187611928G>C	ENST00000304698.5	+	4	878	c.675G>C	c.(673-675)ttG>ttC	p.L225F		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	225						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.L225L(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AACAGTTTTTGAAAGTGGACA	0.313																																						ENST00000304698.5																			1	Substitution - coding silent(1)	p.L225L(1)	breast(1)	NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(673-675)ttG>ttC		family with sequence similarity 171, member B							104.0	102.0	103.0					2																	187611928		2202	4300	6502	SO:0001583	missense	165215					integral to membrane	DNA binding	g.chr2:187611928G>C	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.675G>C	2.37:g.187611928G>C	ENSP00000304108:p.Leu225Phe						p.L225F	NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN			4	878	+			225					Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	c.675G>C	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	G	9.737	1.163878	0.21538	.	.	ENSG00000144369	ENST00000304698;ENST00000272804	T	0.31769	1.48	5.27	1.78	0.24846	.	0.365437	0.26173	N	0.025911	T	0.40094	0.1103	L	0.50333	1.59	0.34356	D	0.690435	D;D	0.76494	0.999;0.999	D;D	0.75020	0.985;0.985	T	0.47420	-0.9119	10	0.10902	T	0.67	-8.7618	8.9112	0.35555	0.4723:0.0:0.5277:0.0	.	225;226	Q6P995;A8K122	F171B_HUMAN;.	F	225	ENSP00000304108:L225F	ENSP00000272804:L225F	L	+	3	2	FAM171B	187320173	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	0.791000	0.26915	0.103000	0.17682	-0.459000	0.05422	TTG		0.313	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		13	12	0	0	0	1	0	13	12				
PAPOLB	56903	broad.mit.edu	37	7	4899702	4899702	+	Silent	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr7:4899702C>T	ENST00000404991.1	-	1	1923	c.1737G>A	c.(1735-1737)gtG>gtA	p.V579V	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	579					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		CATTGGTATTCACCTGTTGCA	0.468																																						ENST00000404991.1																			0				kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14						c.(1735-1737)gtG>gtA		poly(A) polymerase beta (testis specific)							91.0	91.0	91.0					7																	4899702		2055	4239	6294	SO:0001819	synonymous_variant	56903				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr7:4899702C>T	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.1737G>A	7.37:g.4899702C>T						RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	p.V579V	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	1	1923	-		Ovarian(82;0.0175)	579					Q75LH1|Q8NE14	Silent	SNP	ENST00000404991.1	37	c.1737G>A																																																																																					0.468	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		22	89	0	0	0	1	0	22	89				
FAM155A	728215	broad.mit.edu	37	13	108518661	108518661	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr13:108518661T>C	ENST00000375915.2	-	1	422	c.284A>G	c.(283-285)cAg>cGg	p.Q95R		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	95	Poly-Gln.					integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ctgccgccgctgctgctgctg	0.731																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(283-285)cAg>cGg		family with sequence similarity 155, member A							8.0	11.0	10.0					13																	108518661		1836	3781	5617	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:108518661T>C	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.284A>G	13.37:g.108518661T>C	ENSP00000365080:p.Gln95Arg						p.Q95R	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			1	422	-			95			Poly-Gln.		B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.284A>G	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	T	0.110	-1.140286	0.01728	.	.	ENSG00000204442	ENST00000375915	T	0.57436	0.4	5.23	3.12	0.35913	Armadillo-like helical (1);	0.660669	0.12437	N	0.469027	T	0.30417	0.0764	N	0.25332	0.735	0.19300	N	0.999978	B	0.02656	0.0	B	0.01281	0.0	T	0.27806	-1.0063	10	0.07030	T	0.85	.	3.3913	0.07290	0.0:0.517:0.2156:0.2674	.	95	B1AL88	F155A_HUMAN	R	95	ENSP00000365080:Q95R	ENSP00000365080:Q95R	Q	-	2	0	FAM155A	107316662	0.206000	0.23470	1.000000	0.80357	0.982000	0.71751	0.127000	0.15790	1.195000	0.43115	-0.181000	0.13052	CAG		0.731	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		3	43	0	0	0	1	0	3	43				
SLC12A1	6557	broad.mit.edu	37	15	48524979	48524979	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr15:48524979G>A	ENST00000558405.1	+	7	1045	c.1031G>A	c.(1030-1032)gGa>gAa	p.G344E	SLC12A1_ENST00000396577.3_Missense_Mutation_p.G344E|SLC12A1_ENST00000559723.1_3'UTR|SLC12A1_ENST00000330289.6_Missense_Mutation_p.G344E|SLC12A1_ENST00000380993.3_Missense_Mutation_p.G344E			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	344					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TTCTTCATTGGAACTGTCATT	0.343																																						ENST00000396577.3																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59						c.(1030-1032)gGa>gAa		solute carrier family 12 (sodium/potassium/chloride transporter), member 1	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						149.0	156.0	153.0					15																	48524979		2198	4297	6495	SO:0001583	missense	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48524979G>A		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.1031G>A	15.37:g.48524979G>A	ENSP00000453409:p.Gly344Glu					SLC12A1_ENST00000559723.1_3'UTR|SLC12A1_ENST00000380993.3_Missense_Mutation_p.G344E|SLC12A1_ENST00000558405.1_Missense_Mutation_p.G344E|SLC12A1_ENST00000330289.6_Missense_Mutation_p.G344E	p.G344E	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	8	1246	+		all_lung(180;0.00219)	344					A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	c.1031G>A	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	G	28.6	4.932410	0.92458	.	.	ENSG00000074803	ENST00000428362;ENST00000380993;ENST00000396577;ENST00000330289	D;D;D	0.98849	-5.18;-5.18;-5.18	5.74	5.74	0.90152	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99465	0.9810	H	0.95712	3.71	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.98472	1.0601	10	0.87932	D	0	.	19.9336	0.97129	0.0:0.0:1.0:0.0	.	344;344;344	Q8IUN5;E9PDW4;Q13621	.;.;S12A1_HUMAN	E	157;344;344;344	ENSP00000370381:G344E;ENSP00000379822:G344E;ENSP00000331550:G344E	ENSP00000331550:G344E	G	+	2	0	SLC12A1	46312271	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.717000	0.92951	0.563000	0.77884	GGA		0.343	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			26	76	0	0	0	1	0	26	76				
TMEM2	23670	broad.mit.edu	37	9	74360219	74360219	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr9:74360219G>A	ENST00000377044.4	-	4	1288	c.749C>T	c.(748-750)tCa>tTa	p.S250L	TMEM2_ENST00000377066.5_Missense_Mutation_p.S250L	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	250					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GGGCAAGCCTGAGGAATTCAG	0.507																																						ENST00000377044.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.(748-750)tCa>tTa		transmembrane protein 2							85.0	78.0	80.0					9																	74360219		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74360219G>A		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.749C>T	9.37:g.74360219G>A	ENSP00000366243:p.Ser250Leu					TMEM2_ENST00000377066.5_Missense_Mutation_p.S250L	p.S250L	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	4	1288	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	250					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.749C>T	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.400545	0.42613	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	T;T	0.74737	-0.87;-0.83	6.03	6.03	0.97812	.	0.328350	0.33670	N	0.004661	T	0.64843	0.2635	L	0.28400	0.85	0.80722	D	1	B;B	0.19331	0.005;0.035	B;B	0.18561	0.008;0.022	T	0.61397	-0.7071	10	0.62326	D	0.03	.	13.7134	0.62682	0.0699:0.0:0.9301:0.0	.	250;250	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	L	250	ENSP00000366243:S250L;ENSP00000366266:S250L	ENSP00000366243:S250L	S	-	2	0	TMEM2	73550039	1.000000	0.71417	0.954000	0.39281	0.396000	0.30629	7.415000	0.80131	2.861000	0.98227	0.655000	0.94253	TCA		0.507	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		17	34	0	0	0	1	0	17	34				
CD163	9332	broad.mit.edu	37	12	7651747	7651747	+	Silent	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr12:7651747C>T	ENST00000359156.4	-	4	697	c.495G>A	c.(493-495)ggG>ggA	p.G165G	CD163_ENST00000396620.3_Silent_p.G165G|CD163_ENST00000541972.1_Silent_p.G153G|CD163_ENST00000432237.2_Silent_p.G165G	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	165	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	AACACATATTCCCTCCACGCG	0.403																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(493-495)ggG>ggA		CD163 molecule																																				SO:0001819	synonymous_variant	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7651747C>T	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.495G>A	12.37:g.7651747C>T						CD163_ENST00000541972.1_Silent_p.G153G|CD163_ENST00000396620.3_Silent_p.G165G|CD163_ENST00000432237.2_Silent_p.G165G	p.G165G	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			4	697	-			165			SRCR 2.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Silent	SNP	ENST00000359156.4	37	c.495G>A	CCDS8578.1																																																																																				0.403	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		53	149	0	0	0	1	0	53	149				
SHANK1	50944	broad.mit.edu	37	19	51201121	51201121	+	Missense_Mutation	SNP	G	G	A	rs537360024		TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr19:51201121G>A	ENST00000293441.1	-	12	1858	c.1840C>T	c.(1840-1842)Cgc>Tgc	p.R614C	SHANK1_ENST00000391814.1_Missense_Mutation_p.R614C|SHANK1_ENST00000359082.3_Missense_Mutation_p.R614C	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	614					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)	p.R614C(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TCCTGAGAGCGATTCGCCACT	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		19316	0.0		0.001	False		,,,				2504	0.0					ENST00000293441.1																			1	Substitution - Missense(1)	p.R614C(1)	skin(1)	breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(1840-1842)Cgc>Tgc		SH3 and multiple ankyrin repeat domains 1							86.0	75.0	79.0					19																	51201121		2203	4300	6503	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51201121G>A	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.1840C>T	19.37:g.51201121G>A	ENSP00000293441:p.Arg614Cys					SHANK1_ENST00000359082.3_Missense_Mutation_p.R614C|SHANK1_ENST00000391814.1_Missense_Mutation_p.R614C	p.R614C	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	12	1858	-		all_neural(266;0.057)	614					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.1840C>T	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.607301	0.28623	.	.	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.14144	2.53;2.53;2.53	3.27	3.27	0.37495	Src homology-3 domain (1);	0.351137	0.21186	U	0.078724	T	0.23532	0.0569	L	0.42245	1.32	0.22378	N	0.999158	D	0.89917	1.0	D	0.64595	0.927	T	0.01448	-1.1352	10	0.87932	D	0	-24.5534	8.2711	0.31844	0.0:0.0:0.6219:0.3781	.	614	Q9Y566	SHAN1_HUMAN	C	614	ENSP00000293441:R614C;ENSP00000351984:R614C;ENSP00000375690:R614C	ENSP00000293441:R614C	R	-	1	0	SHANK1	55892933	0.948000	0.32251	0.999000	0.59377	0.688000	0.40055	3.589000	0.53972	1.836000	0.53414	0.457000	0.33378	CGC		0.572	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		7	35	0	0	0	1	0	7	35				
JMY	133746	broad.mit.edu	37	5	78610397	78610397	+	Silent	SNP	A	A	G			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr5:78610397A>G	ENST00000396137.4	+	9	2844	c.2382A>G	c.(2380-2382)gaA>gaG	p.E794E	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	794	Pro-rich.				'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		ACAACCTCGAACCATGTTCTG	0.517																																						ENST00000396137.4																			0				endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16						c.(2380-2382)gaA>gaG		junction mediating and regulatory protein, p53 cofactor							168.0	167.0	167.0					5																	78610397		1969	4164	6133	SO:0001819	synonymous_variant	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78610397A>G	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2382A>G	5.37:g.78610397A>G						JMY_ENST00000412001.1_Intron	p.E794E	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	9	2844	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	794			Pro-rich.		A1L4P5|B5MDS2|B5MDT0	Silent	SNP	ENST00000396137.4	37	c.2382A>G	CCDS4047.3																																																																																				0.517	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	NM_152405		38	88	0	0	0	1	0	38	88				
BIN2	51411	broad.mit.edu	37	12	51693066	51693066	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr12:51693066C>A	ENST00000267012.4	-	7	584	c.523G>T	c.(523-525)Gaa>Taa	p.E175*	BIN2_ENST00000452142.2_Nonsense_Mutation_p.E143*|BIN2_ENST00000544402.1_Nonsense_Mutation_p.E149*|BIN2_ENST00000604560.1_Nonsense_Mutation_p.E148*	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	175	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						TTGAACTCTTCCTCTGCCTAG	0.418																																						ENST00000267012.4																			0				NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						c.(523-525)Gaa>Taa		bridging integrator 2							118.0	106.0	110.0					12																	51693066		2203	4300	6503	SO:0001587	stop_gained	51411					cytoplasm	protein binding	g.chr12:51693066C>A	AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.523G>T	12.37:g.51693066C>A	ENSP00000267012:p.Glu175*					BIN2_ENST00000544402.1_Nonsense_Mutation_p.E149*|BIN2_ENST00000604560.1_Nonsense_Mutation_p.E148*|BIN2_ENST00000452142.2_Nonsense_Mutation_p.E143*	p.E175*	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN			7	584	-			175			BAR.		Q86VV0|Q9NWK4|Q9UKN4	Nonsense_Mutation	SNP	ENST00000267012.4	37	c.523G>T	CCDS8811.1	.	.	.	.	.	.	.	.	.	.	C	36	5.731069	0.96856	.	.	ENSG00000110934	ENST00000452142;ENST00000267012;ENST00000544402	.	.	.	4.19	4.19	0.49359	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-9.4585	16.5072	0.84274	0.0:1.0:0.0:0.0	.	.	.	.	X	143;175;149	.	ENSP00000267012:E175X	E	-	1	0	BIN2	49979333	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.259000	0.78381	2.611000	0.88343	0.655000	0.94253	GAA		0.418	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000469800.1			23	28	1	0	9.86323e-18	1	1.14579e-17	23	28				
NPAS1	4861	broad.mit.edu	37	19	47548510	47548510	+	Silent	SNP	C	C	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr19:47548510C>A	ENST00000602212.1	+	12	1594	c.1374C>A	c.(1372-1374)acC>acA	p.T458T	NPAS1_ENST00000602189.1_Silent_p.T283T|NPAS1_ENST00000449844.2_Silent_p.T458T|NPAS1_ENST00000439365.2_3'UTR			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	458					central nervous system development (GO:0007417)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		CCCCCCAGACCCAGGGCAAAC	0.672																																						ENST00000602212.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6						c.(1372-1374)acC>acA		neuronal PAS domain protein 1							40.0	45.0	43.0					19																	47548510		2201	4300	6501	SO:0001819	synonymous_variant	4861				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr19:47548510C>A	U77968	CCDS12694.1	19q13.2-q13.3	2013-05-21				ENSG00000130751		"""Basic helix-loop-helix proteins"""	7894	protein-coding gene	gene with protein product	"""neuronal PAS1"", ""member of PAS superfamily 5"""	603346				9012850, 9079689	Standard	NM_002517		Approved	MOP5, PASD5, bHLHe11	uc002pfy.3	Q99742		ENST00000602212.1:c.1374C>A	19.37:g.47548510C>A						NPAS1_ENST00000602189.1_Silent_p.T283T|NPAS1_ENST00000449844.2_Silent_p.T458T|NPAS1_ENST00000439365.2_3'UTR	p.T458T			Q99742	NPAS1_HUMAN		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)	12	1594	+		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)	458					B4DR69|Q99632|Q9BY83	Silent	SNP	ENST00000602212.1	37	c.1374C>A	CCDS12694.1																																																																																				0.672	NPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466658.1	NM_002517		16	45	1	0	3.32936e-07	1	3.56848e-07	16	45				
AGRN	375790	broad.mit.edu	37	1	980739	980748	+	Splice_Site	DEL	GTGCCTGCCA	GTGCCTGCCA	-			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:980739_980748delGTGCCTGCCA	ENST00000379370.2	+	14	2422_2431	c.2372_2381delGTGCCTGCCA	c.(2371-2382)agtgcctgccag>ag	p.SACQ791fs		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	791					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GGCCTTTCAGGTGCCTGCCAGTGCAACCCC	0.7																																						ENST00000379370.2																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.e14-1		agrin																																				SO:0001630	splice_region_variant	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:980739_980748delGTGCCTGCCA	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.2372-1GTGCCTGCCA>-	1.37:g.980739_980748delGTGCCTGCCA							p.SACQ791_splice	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	14	2422_2431	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	791					Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Splice_Site	DEL	ENST00000379370.2	37	c.2371_splice	CCDS30551.1																																																																																				0.700	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576	Frame_Shift_Del	19	54						19	54	---	---	---	---
RLF	6018	broad.mit.edu	37	1	40661392	40661394	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:40661392_40661394delTTC	ENST00000372771.4	+	4	590_592	c.563_565delTTC	c.(562-567)gttctt>gtt	p.L190del		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	190					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AAAAACCCAGTTCTTCTTAAAAT	0.369																																						ENST00000372771.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68						c.(562-567)gtt>g		rearranged L-myc fusion																																				SO:0001651	inframe_deletion	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40661392_40661394delTTC		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.563_565delTTC	1.37:g.40661395_40661397delTTC	ENSP00000361857:p.Leu190del						p.VL188del	NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		4	590_592	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	188					Q14CQ1|Q9NU60	In_Frame_Del	DEL	ENST00000372771.4	37	c.563_565delTTC	CCDS448.1																																																																																				0.369	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		15	31						15	31	---	---	---	---
RALGPS2	55103	broad.mit.edu	37	1	178745957	178745958	+	Splice_Site	INS	-	-	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:178745957_178745958insT	ENST00000367635.3	+	2	395		c.e2+1		RALGPS2_ENST00000367634.2_Splice_Site	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2						small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TGCTTCTGAGGTAAGATATTTA	0.396																																						ENST00000367635.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.e2+1		Ral GEF with PH domain and SH3 binding motif 2																																				SO:0001630	splice_region_variant	55103				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:178745957_178745958insT	AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"""Pleckstrin homology (PH) domain containing"""	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.57+1->T	1.37:g.178745958_178745958dupT						RALGPS2_ENST00000324778.4_Splice_Site|RALGPS2_ENST00000367634.2_Splice_Site		NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN			2	395	+								B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Splice_Site	INS	ENST00000367635.3	37		CCDS1325.1																																																																																				0.396	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	NM_152663	Intron	10	23						10	23	---	---	---	---
SF3B6	51639	broad.mit.edu	37	2	24297025	24297026	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr2:24297025_24297026insTA	ENST00000233468.4	-	2	282_283	c.69_70insTA	c.(67-72)ataagafs	p.R24fs		NM_016047.3	NP_057131.1														NS(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCAAATTTCTTATATACAATA	0.292																																						ENST00000233468.4																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(67-72)atgaaafs																																						SO:0001589	frameshift_variant	51639				nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr2:24297025_24297026insTA																												ENST00000233468.4:c.68_69dupTA	2.37:g.24297030_24297031dupTA	ENSP00000233468:p.Arg24fs						p.MK23fs	NM_016047.3	NP_057131.1	Q9Y3B4	PM14_HUMAN			2	282_283	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		23			RRM.			Frame_Shift_Ins	INS	ENST00000233468.4	37	c.69_70insTA	CCDS1707.1																																																																																				0.292	SF3B14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246826.1			10	23						10	23	---	---	---	---
CYP1B1	1545	broad.mit.edu	37	2	38298106	38298107	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr2:38298106_38298107insA	ENST00000260630.3	-	3	1791_1792	c.1390_1391insT	c.(1390-1392)tcafs	p.S464fs	CYP1B1_ENST00000494864.1_5'UTR|CYP1B1_ENST00000407341.1_Frame_Shift_Ins_p.S464fs	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	464					angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|blood vessel morphogenesis (GO:0048514)|cell adhesion (GO:0007155)|cellular aromatic compound metabolic process (GO:0006725)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to organic cyclic compound (GO:0071407)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell-cell adhesion (GO:0071603)|epoxygenase P450 pathway (GO:0019373)|estrogen metabolic process (GO:0008210)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|membrane lipid catabolic process (GO:0046466)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nitric oxide biosynthetic process (GO:0006809)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to toxic substance (GO:0009636)|retinal blood vessel morphogenesis (GO:0061304)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|toxin metabolic process (GO:0009404)|trabecular meshwork development (GO:0002930)|visual perception (GO:0007601)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Biotin(DB00121)|Caffeine(DB00201)|Clozapine(DB00363)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Flutamide(DB00499)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Melatonin(DB01065)|Mitoxantrone(DB01204)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Primaquine(DB01087)|Procarbazine(DB01168)|Progesterone(DB00396)|Propofol(DB00818)|Tamoxifen(DB00675)|Testosterone(DB00624)|Theophylline(DB00277)	TTTGCCCACTGAAAAAATCATC	0.505																																						ENST00000260630.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13						c.(1390-1392)agtfs		cytochrome P450, family 1, subfamily B, polypeptide 1	Estrone(DB00655)																																			SO:0001589	frameshift_variant	1545				visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr2:38298106_38298107insA	U56438	CCDS1793.1	2p22.2	2008-02-05	2003-01-14		ENSG00000138061	ENSG00000138061		"""Cytochrome P450s"""	2597	protein-coding gene	gene with protein product		601771	"""cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)"""	GLC3A		8175734, 15128046	Standard	NM_000104		Approved	CP1B	uc002rqo.2	Q16678	OTTHUMG00000100970	ENST00000260630.3:c.1391dupT	2.37:g.38298112_38298112dupA	ENSP00000260630:p.Ser464fs					CYP1B1_ENST00000407341.1_Frame_Shift_Ins_p.S464fs|CYP1B1_ENST00000494864.1_5'UTR	p.S464fs	NM_000104.3	NP_000095.2	Q16678	CP1B1_HUMAN			3	1791_1792	-		all_hematologic(82;0.21)	464					Q5TZW8|Q93089|Q9H316	Frame_Shift_Ins	INS	ENST00000260630.3	37	c.1390_1391insT	CCDS1793.1																																																																																				0.505	CYP1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218580.3	NM_000104		21	58						21	58	---	---	---	---
POU4F2	5458	broad.mit.edu	37	4	147560458	147560466	+	In_Frame_Del	DEL	GGCGGCGGC	GGCGGCGGC	-	rs189899086|rs72269802		TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr4:147560458_147560466delGGCGGCGGC	ENST00000281321.3	+	1	414_422	c.166_174delGGCGGCGGC	c.(166-174)ggcggcggcdel	p.GGG65del	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	65	Poly-Gly.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	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 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)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CGCTggtggtggcggcggcggcggcggcg	0.761																																						ENST00000281321.3																			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33						c.(166-174)del		POU class 4 homeobox 2																																				SO:0001651	inframe_deletion	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147560458_147560466delGGCGGCGGC	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.166_174delGGCGGCGGC	4.37:g.147560467_147560475delGGCGGCGGC	ENSP00000281321:p.Gly65_Gly67del					AC093887.1_ENST00000584185.1_RNA	p.GGG65del	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN			1	414_422	+	all_hematologic(180;0.151)		65			Poly-Gly.		B1PJR6|B2RC84|Q13883|Q14987	In_Frame_Del	DEL	ENST00000281321.3	37	c.166_174delGGCGGCGGC	CCDS34074.1																																																																																				0.761	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		7	15						7	15	---	---	---	---
INHBA	3624	broad.mit.edu	37	7	41729741	41729743	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr7:41729741_41729743delTTC	ENST00000242208.4	-	3	1032_1034	c.786_788delGAA	c.(784-789)aagaaa>aaa	p.262_263KK>K	AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_In_Frame_Del_p.262_263KK>K|INHBA_ENST00000464515.1_5'UTR	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	262					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ctcctcttctttcttcttcttct	0.581										TSP Lung(11;0.080)																												ENST00000242208.4																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(784-789)aaa>aa		inhibin, beta A																																				SO:0001651	inframe_deletion	3624				cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41729741_41729743delTTC		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.786_788delGAA	7.37:g.41729750_41729752delTTC	ENSP00000242208:p.Lys263del	TSP Lung(11;0.080)				INHBA_ENST00000442711.1_In_Frame_Del_p.KK262del|INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA	p.KK262del	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN			3	1032_1034	-			262					Q14599	In_Frame_Del	DEL	ENST00000242208.4	37	c.786_788delGAA	CCDS5464.1																																																																																				0.581	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			7	95						7	95	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88847522	88847522	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr7:88847522delC	ENST00000333190.4	+	2	771	c.162delC	c.(160-162)aacfs	p.N54fs		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	54							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TAAAGGCAAACTTTTACTGTG	0.363										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(160-162)aafs		zinc finger protein 804B							96.0	93.0	94.0					7																	88847522		2203	4300	6503	SO:0001589	frameshift_variant	219578					intracellular	zinc ion binding	g.chr7:88847522delC	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.162delC	7.37:g.88847522delC	ENSP00000329638:p.Asn54fs	HNSCC(36;0.09)					p.N54fs	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		2	771	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		54					B2RTV2|Q7Z714|Q96MN7	Frame_Shift_Del	DEL	ENST00000333190.4	37	c.162delC	CCDS5613.1																																																																																				0.363	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		16	40						16	40	---	---	---	---
TRBV7-1	28597	broad.mit.edu	37	7	142032162	142032163	+	RNA	DEL	GA	GA	-	rs149220181|rs549861664	byFrequency	TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr7:142032162_142032163delGA	ENST00000547918.2	+	0	82									T cell receptor beta variable 7-1 (non-functional)																		atgtgtgtgtgAGAGAGAGAGA	0.505																																						ENST00000547918.2																			0																																																			28597							g.chr7:142032162_142032163delGA	X61444		7q34	2012-02-07	2008-09-12		ENSG00000211707	ENSG00000211707		"""T cell receptors / TRB locus"""	12235	other	T cell receptor gene			"""T cell receptor beta variable 7-1"""			8650574	Standard	NG_001333		Approved	TRBV71, TCRBV6S7P, TCRBV7S1			OTTHUMG00000158529		7.37:g.142032172_142032173delGA														0	82	+									RNA	DEL	ENST00000547918.2	37																																																																																						0.505	TRBV7-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351235.1	NG_001333		5	11						5	11	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21971128	21971128	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr9:21971128delG	ENST00000304494.5	-	2	500	c.230delC	c.(229-231)actfs	p.T77fs	CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.T77fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.T26fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.T77fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.H91fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.T77fs|CDKN2A_ENST00000579755.1_Frame_Shift_Del_p.H91fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.T26fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.T26fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.H132fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.T26fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.T26fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	77			T -> P (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.L78fs*41(3)|p.L65fs*38(1)|p.0(1)|p.A76fs*64(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.T77S(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCGGGTGAGAGTGGCGGGGTC	0.716		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000579755.1		17																	1368	Whole gene deletion(1316)|Unknown(44)|Deletion - Frameshift(6)|Substitution - Missense(1)|Deletion - In frame(1)	p.0?(1315)|p.?(44)|p.L78fs*41(3)|p.L65fs*38(1)|p.0(1)|p.A76fs*64(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.T77S(1)	haematopoietic_and_lymphoid_tissue(284)|skin(174)|central_nervous_system(168)|lung(145)|urinary_tract(91)|bone(75)|soft_tissue(57)|oesophagus(53)|pleura(51)|upper_aerodigestive_tract(49)|ovary(36)|kidney(32)|pancreas(32)|breast(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199						c.(271-273)cafs		cyclin-dependent kinase inhibitor 2A							10.0	13.0	12.0					9																	21971128		2173	4239	6412	SO:0001589	frameshift_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971128delG	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.230delC	9.37:g.21971128delG	ENSP00000307101:p.Thr77fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.T26fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.T26fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.T77fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.T26fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.T77fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.T26fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.T77fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.T77fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.H91fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.H132fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.T26fs	p.H91fs			P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	565	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	0					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	ENST00000304494.5	37	c.273delC	CCDS6510.1																																																																																				0.716	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		9	18						9	18	---	---	---	---
SPDYC	387778	broad.mit.edu	37	11	64943050	64943050	+	IGR	DEL	T	T	-	rs185303412		TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr11:64943050delT	ENST00000377185.2	+	0	991				AP003068.18_ENST00000534819.1_RNA	NM_001008778.1	NP_001008778.1			speedy/RINGO cell cycle regulator family member C											breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						gcccggctaattttttttttg	0.522																																						ENST00000534819.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr11:64943050delT	AY820305	CCDS31606.1	11q13.1	2013-05-08	2013-05-08		ENSG00000204710	ENSG00000204710		"""Speedy homologs"""	32681	protein-coding gene	gene with protein product		614030	"""speedy homolog C (Xenopus laevis)"""			15611625	Standard	NM_001008778		Approved	Ringo2	uc010rnz.2	Q5MJ68	OTTHUMG00000165611		11.37:g.64943050delT														0	891	-									RNA	DEL	ENST00000377185.2	37		CCDS31606.1																																																																																				0.522	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385299.1	NM_001008778		2	4						2	4	---	---	---	---
ANKRD13D	338692	broad.mit.edu	37	11	67069025	67069031	+	Frame_Shift_Del	DEL	GCATGGA	GCATGGA	-			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr11:67069025_67069031delGCATGGA	ENST00000447274.2	+	13	2329_2335	c.1154_1160delGCATGGA	c.(1153-1161)ggcatggagfs	p.GME385fs	ANKRD13D_ENST00000511455.2_Frame_Shift_Del_p.GME472fs|ANKRD13D_ENST00000515828.1_Frame_Shift_Del_p.GME122fs|ANKRD13D_ENST00000514166.1_Frame_Shift_Del_p.GME385fs|ANKRD13D_ENST00000308440.6_Frame_Shift_Del_p.GME385fs|SSH3_ENST00000308127.4_5'Flank|SSH3_ENST00000308298.7_5'Flank|SSH3_ENST00000376757.5_5'Flank|ANKRD13D_ENST00000504236.1_3'UTR			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	385						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			AGCGTGCTGGGCATGGAGCGCAACGAG	0.657																																						ENST00000447274.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9						c.(1153-1161)ggfs		ankyrin repeat domain 13 family, member D																																				SO:0001589	frameshift_variant	338692							g.chr11:67069025_67069031delGCATGGA	AK027313	CCDS31616.1, CCDS31616.2	11q13.2	2013-01-11		2005-08-09	ENSG00000172932	ENSG00000172932		"""Ankyrin repeat domain containing"""	27880	protein-coding gene	gene with protein product		615126					Standard	NM_207354		Approved		uc001okd.2	Q6ZTN6	OTTHUMG00000162929	ENST00000447274.2:c.1154_1160delGCATGGA	11.37:g.67069025_67069031delGCATGGA	ENSP00000402616:p.Gly385fs					ANKRD13D_ENST00000308440.6_Frame_Shift_Del_p.GME385fs|ANKRD13D_ENST00000515828.1_Frame_Shift_Del_p.GME122fs|ANKRD13D_ENST00000504236.1_3'UTR|ANKRD13D_ENST00000514166.1_Frame_Shift_Del_p.GME385fs|ANKRD13D_ENST00000511455.2_Frame_Shift_Del_p.GME472fs	p.GME385fs			Q6ZTN6	AN13D_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		13	2329_2335	+			385					D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Frame_Shift_Del	DEL	ENST00000447274.2	37	c.1154_1160delGCATGGA																																																																																					0.657	ANKRD13D-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000371067.2	NM_207354		16	92						16	92	---	---	---	---
ZFYVE26	23503	broad.mit.edu	37	14	68265002	68265002	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr14:68265002delC	ENST00000347230.4	-	11	2115	c.1977delG	c.(1975-1977)gggfs	p.G659fs	ZFYVE26_ENST00000555452.1_Frame_Shift_Del_p.G659fs	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	659					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCCTATGAGGCCCTGGGTAAC	0.488																																						ENST00000347230.4																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(1975-1977)ggfs		zinc finger, FYVE domain containing 26							97.0	102.0	100.0					14																	68265002		2203	4300	6503	SO:0001589	frameshift_variant	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68265002delC	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.1977delG	14.37:g.68265002delC	ENSP00000251119:p.Gly659fs					ZFYVE26_ENST00000555452.1_Frame_Shift_Del_p.G659fs	p.G659fs	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	11	2115	-			659					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Frame_Shift_Del	DEL	ENST00000347230.4	37	c.1977delG	CCDS9788.1																																																																																				0.488	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		30	61						30	61	---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23312380	23312381	+	RNA	DEL	TT	TT	-			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr15:23312380_23312381delTT	ENST00000560464.1	-	0	3118									hect domain and RLD 2 pseudogene 2																		TGTTAttttctttttttttttt	0.401																																						ENST00000560464.1																			0																																																			400322							g.chr15:23312380_23312381delTT	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23312390_23312391delTT														0	3118	-									RNA	DEL	ENST00000560464.1	37																																																																																						0.401	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			2	4						2	4	---	---	---	---
CASC5	57082	broad.mit.edu	37	15	40915630	40915631	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr15:40915630_40915631insC	ENST00000346991.5	+	11	3636_3637	c.3246_3247insC	c.(3247-3249)cctfs	p.P1083fs	CASC5_ENST00000399668.2_Frame_Shift_Ins_p.P1057fs			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1083	2 X 104 AA approximate repeats.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TTCTGAATGAACCTCTATCAAG	0.351																																						ENST00000346991.5																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(3244-3249)gactctfs		cancer susceptibility candidate 5																																				SO:0001589	frameshift_variant	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40915630_40915631insC	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.3248dupC	15.37:g.40915632_40915632dupC	ENSP00000335463:p.Pro1083fs					CASC5_ENST00000399668.2_Frame_Shift_Ins_p.S1057fs	p.S1083fs			Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	11	3636_3637	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	1083			2 X 104 AA approximate repeats.		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Frame_Shift_Ins	INS	ENST00000346991.5	37	c.3246_3247insC	CCDS42023.1																																																																																				0.351	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		12	60						12	60	---	---	---	---
EFTUD1P1	648809	broad.mit.edu	37	15	84773616	84773631	+	RNA	DEL	TGCAATTGGTTTTTTT	TGCAATTGGTTTTTTT	-	rs546084401	byFrequency	TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr15:84773616_84773631delTGCAATTGGTTTTTTT	ENST00000558187.1	+	0	546									elongation factor Tu GTP binding domain containing 1 pseudogene 1																		AGATTTTATATGCAATTGGTTttttttagtgaaact	0.384																																						ENST00000558187.1																			0																																																			648809							g.chr15:84773616_84773631delTGCAATTGGTTTTTTT			15q25.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000259404	ENSG00000259404			31739	pseudogene	pseudogene	"""similar to hypothetical protein FLJ13119"""		"""family with sequence similarity 42, member B"""	FAM42B			Standard	NR_036652		Approved	HsT19321	uc021stg.1		OTTHUMG00000172493		15.37:g.84773616_84773631delTGCAATTGGTTTTTTT														0	546	+									RNA	DEL	ENST00000558187.1	37																																																																																						0.384	EFTUD1P1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000418794.1	NR_036652		9	26						9	26	---	---	---	---
NLGN2	57555	broad.mit.edu	37	17	7320905	7320905	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:7320905delC	ENST00000302926.2	+	7	2368	c.2295delC	c.(2293-2295)tgcfs	p.C765fs	RP11-104H15.7_ENST00000575310.1_RNA|SPEM1_ENST00000323675.3_5'Flank|NLGN2_ENST00000575301.1_Frame_Shift_Del_p.C765fs	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	765					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)				GCCCTGCCTGCCCGCCCGACT	0.751																																						ENST00000302926.2																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22						c.(2293-2295)tgfs		neuroligin 2							5.0	5.0	5.0					17																	7320905		1969	3883	5852	SO:0001589	frameshift_variant	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.chr17:7320905delC	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.2295delC	17.37:g.7320905delC	ENSP00000305288:p.Cys765fs					NLGN2_ENST00000575301.1_Frame_Shift_Del_p.C765fs	p.C765fs	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN			7	2368	+		Prostate(122;0.157)	765					Q9P2I1	Frame_Shift_Del	DEL	ENST00000302926.2	37	c.2295delC	CCDS11103.1																																																																																				0.751	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226941.2	NM_020795		2	4						2	4	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577503	7577503	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:7577503delA	ENST00000269305.4	-	7	967	c.778delT	c.(778-780)tccfs	p.S261fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.S261fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.S261fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Frame_Shift_Del_p.S261fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.S260fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.S261fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	261	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		S -> C (in a sporadic cancer; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> N (in a sporadic cancer; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.S260fs*85(2)|p.S260A(2)|p.S260fs*3(2)|p.?(1)|p.E258fs*85(1)|p.S260P(1)|p.E258fs*71(1)|p.S260_S261delSS(1)|p.S260fs*4(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.S260del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCTGACCTGGAGTCTTCCAGT	0.577		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		23	Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(3)|Substitution - Missense(3)|Insertion - Frameshift(1)|Unknown(1)	p.0?(8)|p.S260fs*85(2)|p.S260A(2)|p.S260fs*3(2)|p.?(1)|p.E258fs*85(1)|p.S260P(1)|p.E258fs*71(1)|p.S260_S261delSS(1)|p.S260fs*4(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.S260del(1)	bone(4)|upper_aerodigestive_tract(3)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(2)|breast(2)|ovary(2)|stomach(1)|oesophagus(1)|lung(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(778-780)ccfs	Other conserved DNA damage response genes	tumor protein p53							132.0	93.0	106.0					17																	7577503		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577503delA	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.778delT	17.37:g.7577503delA	ENSP00000269305:p.Ser261fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Frame_Shift_Del_p.S261fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.S261fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.S260fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.S261fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.S261fs	p.S261fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	910	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	261		S -> C (in a sporadic cancer; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> N (in a sporadic cancer; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.778delT	CCDS11118.1																																																																																				0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		21	46						21	46	---	---	---	---
