#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
S100PBP	64766	broad.mit.edu	37	1	33291705	33291705	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr1:33291705T>C	ENST00000373475.5	+	3	259	c.5T>C	c.(4-6)aTg>aCg	p.M2T	S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Missense_Mutation_p.M2T|S100PBP_ENST00000398243.3_Missense_Mutation_p.M2T	NM_022753.3	NP_073590.2			S100P binding protein									p.M2T(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCAGAAATGATGTGCTCACGG	0.428																																						ENST00000373475.5																			1	Substitution - Missense(1)	p.M2T(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16						c.(4-6)aTg>aCg		S100P binding protein							101.0	96.0	97.0					1																	33291705		2203	4300	6503	SO:0001583	missense	64766					nucleus	calcium-dependent protein binding	g.chr1:33291705T>C	BX647916	CCDS30666.1	1p35.1	2008-02-05			ENSG00000116497	ENSG00000116497			25768	protein-coding gene	gene with protein product	"""S100P binding protein 1"""	611889				12477932	Standard	NM_022753		Approved	FLJ12903, S100PBPR	uc001bwc.4	Q96BU1	OTTHUMG00000003955	ENST00000373475.5:c.5T>C	1.37:g.33291705T>C	ENSP00000362574:p.Met2Thr		Somatic				S100PBP_ENST00000373476.1_Missense_Mutation_p.M2T|S100PBP_ENST00000398243.3_Missense_Mutation_p.M2T|S100PBP_ENST00000356689.3_3'UTR	p.M2T	NM_022753.3	NP_073590.2	WXS	Illumina GAIIx	Phase_I	Q96BU1	S1PBP_HUMAN			3	259	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	2						Missense_Mutation	SNP	ENST00000373475.5	37	c.5T>C	CCDS30666.1	.	.	.	.	.	.	.	.	.	.	T	0.018	-1.482349	0.01027	.	.	ENSG00000116497	ENST00000530710;ENST00000373476;ENST00000373475;ENST00000529027;ENST00000531123;ENST00000398243;ENST00000356689;ENST00000526230;ENST00000531256;ENST00000482212;ENST00000530552	.	.	.	5.32	-1.53	0.08611	.	0.644054	0.15814	N	0.243325	T	0.09949	0.0244	N	0.01576	-0.805	0.22330	N	0.999197	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.36261	-0.9755	9	0.02654	T	1	2.0926	9.53	0.39187	0.0:0.4877:0.0:0.5123	.	2;2	A8MTZ6;Q96BU1	.;S1PBP_HUMAN	T	2	.	ENSP00000349117:M2T	M	+	2	0	S100PBP	33064292	0.983000	0.35010	0.950000	0.38849	0.823000	0.46562	-0.070000	0.11523	-0.351000	0.08249	-0.250000	0.11733	ATG		0.428	S100PBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011266.1	NM_022753		48	106	48	106	---	---	---	---
C1orf177	163747	broad.mit.edu	37	1	55280637	55280637	+	Silent	SNP	C	C	T	rs200876449		TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr1:55280637C>T	ENST00000371273.3	+	8	990	c.975C>T	c.(973-975)ccC>ccT	p.P325P	C1orf177_ENST00000358193.3_Silent_p.P325P	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	325								p.P325P(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						AATGCAAACCCGTCAACCAGC	0.547													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20294	0.0		0.0	False		,,,				2504	0.0					ENST00000358193.3																			1	Substitution - coding silent(1)	p.P325P(1)	prostate(1)	breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						c.(973-975)ccC>ccT		chromosome 1 open reading frame 177							113.0	114.0	113.0					1																	55280637		2203	4300	6503	SO:0001819	synonymous_variant	163747							g.chr1:55280637C>T	AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.975C>T	1.37:g.55280637C>T			Somatic				C1orf177_ENST00000371273.3_Silent_p.P325P	p.P325P	NM_152607.2	NP_689820	WXS	Illumina GAIIx	Phase_I	Q3ZCV2	CA177_HUMAN			8	1029	+			325					B7WPL2|Q8N7Y9	Silent	SNP	ENST00000371273.3	37	c.975C>T	CCDS44153.1																																																																																				0.547	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607		41	140	41	140	---	---	---	---
LRIG2	9860	broad.mit.edu	37	1	113636959	113636959	+	Splice_Site	SNP	A	A	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr1:113636959A>T	ENST00000361127.5	+	5	713		c.e5-1			NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2						innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(2)		breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TGTTTATTTTAGGAATTTAAG	0.323																																						ENST00000361127.5																			2	Unknown(2)	p.?(2)	prostate(2)	breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31						c.e5-1		leucine-rich repeats and immunoglobulin-like domains 2							33.0	33.0	33.0					1																	113636959		2203	4300	6503	SO:0001630	splice_region_variant	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113636959A>T	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.516-1A>T	1.37:g.113636959A>T			Somatic						NM_014813.1	NP_055628.1	WXS	Illumina GAIIx	Phase_I	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	5	713	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)						Q9NSN2	Splice_Site	SNP	ENST00000361127.5	37		CCDS30808.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.048488	0.75846	.	.	ENSG00000198799	ENST00000361127	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1864	0.81955	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRIG2	113438482	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.168000	0.94781	2.281000	0.76405	0.528000	0.53228	.		0.323	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813	Intron	4	80	4	80	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181762828	181762828	+	Missense_Mutation	SNP	G	G	A	rs547396023		TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr1:181762828G>A	ENST00000367573.2	+	45	5926	c.5926G>A	c.(5926-5928)Gtg>Atg	p.V1976M	CACNA1E_ENST00000367567.4_Intron|CACNA1E_ENST00000367570.1_Intron|CACNA1E_ENST00000526775.1_Intron|CACNA1E_ENST00000358338.5_Intron|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1927M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1957M	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1976					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.V1976M(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ATTAAAAAGCGTGCAGCCCTC	0.517																																						ENST00000357570.5																			1	Substitution - Missense(1)	p.V1976M(1)	prostate(1)	NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(5779-5781)Gtg>Atg		calcium channel, voltage-dependent, R type, alpha 1E subunit							28.0	25.0	26.0					1																	181762828		876	1991	2867	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181762828G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.5926G>A	1.37:g.181762828G>A	ENSP00000356545:p.Val1976Met		Somatic				CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1957M|CACNA1E_ENST00000526775.1_Intron|CACNA1E_ENST00000367567.4_Intron|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V1976M|CACNA1E_ENST00000358338.5_Intron|CACNA1E_ENST00000367570.1_Intron	p.V1927M			WXS	Illumina GAIIx	Phase_I	Q15878	CAC1E_HUMAN			45	6091	+			1976					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.5779G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.178579	0.57692	.	.	ENSG00000198216	ENST00000357570;ENST00000360108;ENST00000367573	D;D;D	0.96168	-3.93;-3.93;-3.93	5.8	5.8	0.92144	.	1.727870	0.02584	N	0.099229	D	0.93585	0.7952	N	0.08118	0	0.80722	D	1	.	.	.	.	.	.	T	0.74657	-0.3592	8	0.30078	T	0.28	.	19.6581	0.95851	0.0:0.0:1.0:0.0	.	.	.	.	M	1927;1957;1976	ENSP00000350183:V1927M;ENSP00000353222:V1957M;ENSP00000356545:V1976M	ENSP00000350183:V1927M	V	+	1	0	CACNA1E	180029451	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.203000	0.72137	2.735000	0.93741	0.655000	0.94253	GTG		0.517	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		6	27	6	27	---	---	---	---
WDR43	23160	broad.mit.edu	37	2	29148007	29148007	+	Silent	SNP	T	T	G			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr2:29148007T>G	ENST00000407426.3	+	8	1130	c.1074T>G	c.(1072-1074)acT>acG	p.T358T	SNORD53_SNORD92_ENST00000577887.1_RNA|Y_RNA_ENST00000410292.1_RNA|SNORD53_ENST00000579969.1_RNA	NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	358						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.T401T(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					TTCAGCCTACTATTGAGCGAG	0.413																																						ENST00000407426.3																			1	Substitution - coding silent(1)	p.T401T(1)	prostate(1)	breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20						c.(1072-1074)acT>acG		WD repeat domain 43							98.0	91.0	93.0					2																	29148007		1906	4120	6026	SO:0001819	synonymous_variant	23160					nucleolus		g.chr2:29148007T>G	D87716	CCDS46251.1	2p23.3	2013-01-09			ENSG00000163811	ENSG00000163811		"""WD repeat domain containing"""	28945	protein-coding gene	gene with protein product	"""UTP5, small subunit (SSU) processome component, homolog (yeast)"""					7584026, 7584028, 17699751	Standard	NM_015131		Approved	KIAA0007, NET12, UTP5	uc002rmo.2	Q15061	OTTHUMG00000152015	ENST00000407426.3:c.1074T>G	2.37:g.29148007T>G			Somatic					p.T358T	NM_015131.1	NP_055946.1	WXS	Illumina GAIIx	Phase_I	Q15061	WDR43_HUMAN			8	1130	+	Acute lymphoblastic leukemia(172;0.155)		358					Q15395|Q92577	Silent	SNP	ENST00000407426.3	37	c.1074T>G	CCDS46251.1																																																																																				0.413	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324865.1	XM_087089		12	39	12	39	---	---	---	---
PTH2R	5746	broad.mit.edu	37	2	209292995	209292995	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr2:209292995G>T	ENST00000272847.2	+	2	358	c.145G>T	c.(145-147)Gaa>Taa	p.E49*	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	49					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)	p.E49*(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	AGTACAATGTGAACTCAACAT	0.413																																						ENST00000272847.2																			1	Substitution - Nonsense(1)	p.E49*(1)	prostate(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(145-147)Gaa>Taa		parathyroid hormone 2 receptor							111.0	92.0	99.0					2																	209292995		2203	4300	6503	SO:0001587	stop_gained	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209292995G>T	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.145G>T	2.37:g.209292995G>T	ENSP00000272847:p.Glu49*		Somatic				PTH2R_ENST00000413482.1_3'UTR	p.E49*	NM_005048.2	NP_005039.1	WXS	Illumina GAIIx	Phase_I	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	2	358	+			49					Q8N429	Nonsense_Mutation	SNP	ENST00000272847.2	37	c.145G>T	CCDS2383.1	.	.	.	.	.	.	.	.	.	.	G	37	6.550086	0.97654	.	.	ENSG00000144407	ENST00000272847	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	16.7583	0.85506	0.0:0.0:1.0:0.0	.	.	.	.	X	49	.	ENSP00000272847:E49X	E	+	1	0	PTH2R	209001240	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.029000	0.57253	2.646000	0.89796	0.591000	0.81541	GAA		0.413	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		3	43	3	43	---	---	---	---
IKZF2	22807	broad.mit.edu	37	2	213886796	213886796	+	Silent	SNP	C	C	G			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr2:213886796C>G	ENST00000434687.1	-	7	942	c.633G>C	c.(631-633)ctG>ctC	p.L211L	AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000457361.1_Silent_p.L211L|IKZF2_ENST00000451136.2_Intron|IKZF2_ENST00000374327.4_Silent_p.L66L|IKZF2_ENST00000413091.3_Silent_p.L211L|IKZF2_ENST00000374319.4_Silent_p.L185L|IKZF2_ENST00000342002.2_Silent_p.L217L|IKZF2_ENST00000421754.2_Silent_p.L185L			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	211					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L211L(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TGTGCTCCTCCAGTGAACTGC	0.507																																						ENST00000457361.1																			1	Substitution - coding silent(1)	p.L211L(1)	prostate(1)	NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(631-633)ctG>ctC		IKAROS family zinc finger 2 (Helios)							147.0	120.0	129.0					2																	213886796		2203	4300	6503	SO:0001819	synonymous_variant	22807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:213886796C>G	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.633G>C	2.37:g.213886796C>G			Somatic				IKZF2_ENST00000342002.2_Silent_p.L217L|IKZF2_ENST00000421754.2_Silent_p.L185L|IKZF2_ENST00000451136.2_Intron|IKZF2_ENST00000374327.4_Silent_p.L66L|IKZF2_ENST00000374319.4_Silent_p.L185L|IKZF2_ENST00000413091.3_Silent_p.L211L|IKZF2_ENST00000434687.1_Silent_p.L211L	p.L211L	NM_016260.2	NP_057344.2	WXS	Illumina GAIIx	Phase_I	Q9UKS7	IKZF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)	6	801	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	211					Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Silent	SNP	ENST00000434687.1	37	c.633G>C	CCDS2395.1																																																																																				0.507	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260		6	122	6	122	---	---	---	---
FN1	2335	broad.mit.edu	37	2	216236934	216236934	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr2:216236934C>A	ENST00000359671.1	-	39	6404	c.6139G>T	c.(6139-6141)Ggg>Tgg	p.G2047W	FN1_ENST00000357867.4_Intron|FN1_ENST00000446046.1_Missense_Mutation_p.G2022W|FN1_ENST00000336916.4_Missense_Mutation_p.G2047W|FN1_ENST00000443816.1_Missense_Mutation_p.G1957W|FN1_ENST00000356005.4_Missense_Mutation_p.G1957W|FN1_ENST00000354785.4_Missense_Mutation_p.G2138W|FN1_ENST00000323926.6_Missense_Mutation_p.G2138W|FN1_ENST00000346544.3_Intron|FN1_ENST00000432072.2_Intron|FN1_ENST00000357009.2_Intron|FN1_ENST00000345488.5_Intron|FN1_ENST00000421182.1_Missense_Mutation_p.G1932W			P02751	FINC_HUMAN	fibronectin 1	2047	Connecting strand 3 (CS-3) (V region).				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.G2047W(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	ATTTGTTGCCCAACACTGGGT	0.532																																						ENST00000354785.4																		FN1/ALK(2)	1	Substitution - Missense(1)	p.G2047W(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(6412-6414)Ggg>Tgg		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						102.0	91.0	95.0					2																	216236934		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216236934C>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.6139G>T	2.37:g.216236934C>A	ENSP00000352696:p.Gly2047Trp		Somatic				FN1_ENST00000323926.6_Missense_Mutation_p.G2138W|FN1_ENST00000336916.4_Missense_Mutation_p.G2047W|FN1_ENST00000357867.4_Intron|FN1_ENST00000346544.3_Intron|FN1_ENST00000357009.2_Intron|FN1_ENST00000359671.1_Missense_Mutation_p.G2047W|FN1_ENST00000421182.1_Missense_Mutation_p.G1932W|FN1_ENST00000432072.2_Intron|FN1_ENST00000345488.5_Intron|FN1_ENST00000446046.1_Missense_Mutation_p.G2022W|FN1_ENST00000356005.4_Missense_Mutation_p.G1957W|FN1_ENST00000443816.1_Missense_Mutation_p.G1957W	p.G2138W			WXS	Illumina GAIIx	Phase_I	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	40	6781	-		Renal(323;0.127)	2047			Fibronectin type-III 16.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.6412G>T		.	.	.	.	.	.	.	.	.	.	C	21.8	4.207290	0.79240	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000446046;ENST00000443816;ENST00000356005;ENST00000456923;ENST00000438981	T;T;T;T;T;T;T;T;T;T	0.60797	0.16;2.15;2.29;2.35;2.0;1.65;1.57;1.4;0.78;1.85	6.16	6.16	0.99307	.	0.075011	0.56097	D	0.000033	T	0.74824	0.3767	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;1.0;0.999;1.0;1.0;0.998;0.999	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.967;0.992;0.981;0.992;0.986;1.0;1.0;0.981;0.986	T	0.73720	-0.3894	10	0.72032	D	0.01	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	1838;2138;1957;2022;2047;2048;1932;1957;2138;2047	Q68CX6;P02751-7;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;FINC_HUMAN	W	1932;2138;2047;2138;2048;2047;2022;1957;1957;764;141	ENSP00000394423:G1932W;ENSP00000323534:G2138W;ENSP00000338200:G2047W;ENSP00000346839:G2138W;ENSP00000352696:G2047W;ENSP00000410422:G2022W;ENSP00000415018:G1957W;ENSP00000348285:G1957W;ENSP00000416139:G764W;ENSP00000392565:G141W	ENSP00000265313:G2048W	G	-	1	0	FN1	215945179	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.359000	0.66074	2.937000	0.99478	0.650000	0.86243	GGG		0.532	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		4	145	4	145	---	---	---	---
IGF2BP2	10644	broad.mit.edu	37	3	185542687	185542687	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr3:185542687T>C	ENST00000382199.2	-	1	157	c.62A>G	c.(61-63)cAg>cGg	p.Q21R	IGF2BP2_ENST00000457616.2_Missense_Mutation_p.Q21R|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.Q21R	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	21	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)	p.Q21R(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			CCCAAAGAGCTGCCGGAGGTC	0.682																																						ENST00000382199.2																			1	Substitution - Missense(1)	p.Q21R(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20						c.(61-63)cAg>cGg		insulin-like growth factor 2 mRNA binding protein 2							23.0	26.0	25.0					3																	185542687		2202	4299	6501	SO:0001583	missense	10644				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr3:185542687T>C	BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"""RNA binding motif (RRM) containing"""	28867	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 2"""	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.62A>G	3.37:g.185542687T>C	ENSP00000371634:p.Gln21Arg		Somatic				IGF2BP2_ENST00000457616.2_Missense_Mutation_p.Q21R|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.Q21R	p.Q21R	NM_006548.4	NP_006539.3	WXS	Illumina GAIIx	Phase_I	Q9Y6M1	IF2B2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)		1	157	-	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		21			RRM 1.		A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Missense_Mutation	SNP	ENST00000382199.2	37	c.62A>G	CCDS3273.2	.	.	.	.	.	.	.	.	.	.	T	11.86	1.763597	0.31228	.	.	ENSG00000073792	ENST00000382199;ENST00000457616;ENST00000346192	T;T;T	0.17213	2.29;2.29;2.29	2.33	2.33	0.28932	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.105285	0.37715	U	0.001973	T	0.08088	0.0202	N	0.16066	0.365	0.80722	D	1	B;B;B	0.16603	0.008;0.018;0.009	B;B;B	0.22152	0.022;0.015;0.038	T	0.22034	-1.0228	10	0.20046	T	0.44	-4.6004	5.1301	0.14905	0.0:0.153:0.0:0.847	.	21;21;21	F8W930;Q9Y6M1-1;Q9Y6M1	.;.;IF2B2_HUMAN	R	21	ENSP00000371634:Q21R;ENSP00000410242:Q21R;ENSP00000320204:Q21R	ENSP00000320204:Q21R	Q	-	2	0	IGF2BP2	187025381	0.899000	0.30636	1.000000	0.80357	0.990000	0.78478	1.987000	0.40687	1.071000	0.40834	0.323000	0.21402	CAG		0.682	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157087.2	NM_006548		3	14	3	14	---	---	---	---
SLC2A9	56606	broad.mit.edu	37	4	9828095	9828095	+	Silent	SNP	T	T	G			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr4:9828095T>G	ENST00000264784.3	-	12	1602	c.1549A>C	c.(1549-1551)Agg>Cgg	p.R517R	SLC2A9_ENST00000506583.1_Silent_p.R488R|SLC2A9_ENST00000309065.3_Silent_p.R488R	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	517					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)	p.R488R(1)|p.R517R(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	GCTTTGTTCCTTTTGGAAAAT	0.428																																						ENST00000506583.1																			2	Substitution - coding silent(2)	p.R488R(1)|p.R517R(1)	prostate(2)	NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						c.(1462-1464)Agg>Cgg		solute carrier family 2 (facilitated glucose transporter), member 9							174.0	161.0	166.0					4																	9828095		2203	4300	6503	SO:0001819	synonymous_variant	56606				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	g.chr4:9828095T>G	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.1549A>C	4.37:g.9828095T>G			Somatic				SLC2A9_ENST00000264784.3_Silent_p.R517R|SLC2A9_ENST00000309065.3_Silent_p.R488R	p.R488R			WXS	Illumina GAIIx	Phase_I	Q9NRM0	GTR9_HUMAN			14	1679	-			517					Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Silent	SNP	ENST00000264784.3	37	c.1462A>C	CCDS3407.1																																																																																				0.428	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			6	316	6	316	---	---	---	---
ANKRD17	26057	broad.mit.edu	37	4	74043162	74043162	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr4:74043162C>A	ENST00000358602.4	-	2	598	c.482G>T	c.(481-483)gGt>gTt	p.G161V	ANKRD17_ENST00000330838.6_Missense_Mutation_p.G161V|ANKRD17_ENST00000509867.2_Missense_Mutation_p.G48V	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	161					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G161V(2)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAGGTCTGCACCATCAGCAGT	0.413																																						ENST00000358602.4																			2	Substitution - Missense(2)	p.G161V(2)	prostate(2)	NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(481-483)gGt>gTt		ankyrin repeat domain 17							119.0	108.0	112.0					4																	74043162		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:74043162C>A	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.482G>T	4.37:g.74043162C>A	ENSP00000351416:p.Gly161Val		Somatic				ANKRD17_ENST00000509867.2_Missense_Mutation_p.G48V|ANKRD17_ENST00000330838.6_Missense_Mutation_p.G161V	p.G161V	NM_032217.3	NP_115593.3	WXS	Illumina GAIIx	Phase_I	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		2	598	-	Breast(15;0.000295)		161					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.482G>T	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983771	0.74474	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000411811	D;D;T	0.81499	-1.5;-1.5;-0.34	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000004	D	0.85639	0.5743	L	0.40543	1.245	0.80722	D	1	B;D;B;B	0.61697	0.04;0.99;0.11;0.242	B;D;B;B	0.63957	0.06;0.92;0.092;0.092	D	0.87013	0.2124	10	0.87932	D	0	.	19.1512	0.93488	0.0:1.0:0.0:0.0	.	161;161;161;48	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	V	161;161;161;48;161	ENSP00000351416:G161V;ENSP00000332265:G161V;ENSP00000427151:G48V	ENSP00000332265:G161V	G	-	2	0	ANKRD17	74262026	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.513000	0.84729	0.591000	0.81541	GGT		0.413	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		8	231	8	231	---	---	---	---
RIOK1	83732	broad.mit.edu	37	6	7405482	7405482	+	Splice_Site	SNP	A	A	G			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr6:7405482A>G	ENST00000379834.2	+	12	1604	c.1097A>G	c.(1096-1098)gAt>gGt	p.D366G		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	366	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D359G(1)|p.D366G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					CTTCTGACAGATTTCTTTATG	0.363																																						ENST00000379834.2																			2	Substitution - Missense(2)	p.D359G(1)|p.D366G(1)	prostate(2)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1096-1098)gAt>gGt		RIO kinase 1							79.0	72.0	74.0					6																	7405482		2203	4300	6503	SO:0001630	splice_region_variant	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7405482A>G	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.1097-1A>G	6.37:g.7405482A>G			Somatic					p.D366G	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	WXS	Illumina GAIIx	Phase_I	Q9BRS2	RIOK1_HUMAN			12	1604	+	Ovarian(93;0.0418)		366			Protein kinase.		B2RB28|Q8NDC8|Q96NV9	Splice_Site	SNP	ENST00000379834.2	37	c.1097A>G	CCDS4500.1	.	.	.	.	.	.	.	.	.	.	A	12.03	1.815451	0.32145	.	.	ENSG00000124784	ENST00000379834	T	0.06849	3.25	5.37	4.18	0.49190	RIO kinase (1);Protein kinase-like domain (1);RIO-like kinase (1);	0.144148	0.64402	D	0.000009	T	0.03783	0.0107	L	0.60012	1.86	0.58432	D	0.999998	B	0.18863	0.031	B	0.23852	0.049	T	0.20840	-1.0263	9	.	.	.	.	9.5185	0.39120	0.8501:0.0:0.1499:0.0	.	366	Q9BRS2	RIOK1_HUMAN	G	366	ENSP00000369162:D366G	.	D	+	2	0	RIOK1	7350481	1.000000	0.71417	0.998000	0.56505	0.363000	0.29612	3.778000	0.55371	0.852000	0.35287	0.460000	0.39030	GAT		0.363	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	NM_031480	Missense_Mutation	32	79	32	79	---	---	---	---
TRAF3IP2	10758	broad.mit.edu	37	6	111912533	111912533	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr6:111912533G>T	ENST00000340026.6	-	3	1378	c.784C>A	c.(784-786)Ccc>Acc	p.P262T	TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000368761.5_Missense_Mutation_p.P253T|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.P253T|TRAF3IP2_ENST00000392556.4_5'UTR			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	262					B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)			p.P253T(1)|p.P262T(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		GAAAGATTGGGAGGCAGCATC	0.537																																						ENST00000368761.5																			2	Substitution - Missense(2)	p.P253T(1)|p.P262T(1)	prostate(2)	central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(757-759)Ccc>Acc		TRAF3 interacting protein 2							99.0	92.0	95.0					6																	111912533		2203	4300	6503	SO:0001583	missense	10758				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		g.chr6:111912533G>T	AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"""chromosome 6 open reading frame 5"", ""chromosome 6 open reading frame 2"""	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.784C>A	6.37:g.111912533G>T	ENSP00000345984:p.Pro262Thr		Somatic				TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.P253T|TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.P262T|TRAF3IP2_ENST00000392556.4_5'UTR	p.P253T	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	WXS	Illumina GAIIx	Phase_I	O43734	CIKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)	2	1235	-		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)	262					B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Missense_Mutation	SNP	ENST00000340026.6	37	c.757C>A		.	.	.	.	.	.	.	.	.	.	G	10.72	1.430289	0.25726	.	.	ENSG00000056972	ENST00000392555;ENST00000368761;ENST00000340026;ENST00000359831	T;T;T	0.32753	1.45;1.44;1.44	5.84	4.05	0.47172	.	0.353536	0.28036	N	0.016855	T	0.18467	0.0443	M	0.61703	1.905	0.80722	D	1	B;B;B	0.26845	0.1;0.161;0.1	B;B;B	0.31495	0.062;0.131;0.062	T	0.03268	-1.1054	10	0.51188	T	0.08	0.4512	10.6512	0.45649	0.0698:0.1315:0.7988:0.0	.	262;253;253	O43734;O43734-2;Q7Z6Q1	CIKS_HUMAN;.;.	T	262;253;262;253	ENSP00000357750:P253T;ENSP00000345984:P262T;ENSP00000352889:P253T	ENSP00000345984:P262T	P	-	1	0	TRAF3IP2	112019226	0.993000	0.37304	0.561000	0.28357	0.398000	0.30690	2.914000	0.48797	0.797000	0.33971	-0.273000	0.10243	CCC		0.537	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2			31	48	31	48	---	---	---	---
NPC1L1	29881	broad.mit.edu	37	7	44561339	44561339	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr7:44561339A>C	ENST00000289547.4	-	12	2980	c.2925T>G	c.(2923-2925)aaT>aaG	p.N975K	NPC1L1_ENST00000381160.3_Missense_Mutation_p.N975K|NPC1L1_ENST00000546276.1_Missense_Mutation_p.N929K	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	975					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)	p.N975K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ACTTGTCCTTATTGGGGCCAG	0.577																																						ENST00000289547.4																			1	Substitution - Missense(1)	p.N975K(1)	prostate(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(2923-2925)aaT>aaG		NPC1-like 1	Ezetimibe(DB00973)						78.0	77.0	77.0					7																	44561339		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44561339A>C		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.2925T>G	7.37:g.44561339A>C	ENSP00000289547:p.Asn975Lys		Somatic				NPC1L1_ENST00000546276.1_Missense_Mutation_p.N929K|NPC1L1_ENST00000381160.3_Missense_Mutation_p.N975K	p.N975K	NM_013389.2	NP_037521.2	WXS	Illumina GAIIx	Phase_I	Q9UHC9	NPCL1_HUMAN			12	2980	-			975					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.2925T>G	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.486841	0.26686	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	D;D;D	0.93189	-3.07;-3.07;-3.18	5.49	-4.95	0.03048	.	0.128206	0.48767	D	0.000180	T	0.82263	0.4999	L	0.38838	1.175	0.21325	N	0.999727	B;B;P	0.36990	0.417;0.018;0.577	B;B;B	0.32864	0.093;0.017;0.154	T	0.78425	-0.2209	10	0.07990	T	0.79	-9.2902	7.8959	0.29706	0.2123:0.0:0.5473:0.2404	.	929;975;975	B7ZLE6;Q17RV5;D3DVK9	.;.;.	K	975;975;929	ENSP00000289547:N975K;ENSP00000370552:N975K;ENSP00000438033:N929K	ENSP00000289547:N975K	N	-	3	2	NPC1L1	44527864	0.001000	0.12720	0.011000	0.14972	0.026000	0.11368	-0.145000	0.10265	-0.401000	0.07644	0.533000	0.62120	AAT		0.577	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		3	110	3	110	---	---	---	---
SLC25A13	10165	broad.mit.edu	37	7	95750981	95750981	+	Silent	SNP	A	A	G			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr7:95750981A>G	ENST00000265631.5	-	17	1963	c.1827T>C	c.(1825-1827)atT>atC	p.I609I	SLC25A13_ENST00000494085.1_5'UTR|SLC25A13_ENST00000542654.1_Silent_p.I501I|SLC25A13_ENST00000416240.2_Silent_p.I610I			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	609					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)	p.I609I(1)		breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	CTCCAAAATCAATGTAGAACC	0.413																																						ENST00000416240.2																			1	Substitution - coding silent(1)	p.I609I(1)	prostate(1)	breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42						c.(1828-1830)atT>atC		solute carrier family 25 (aspartate/glutamate carrier), member 13	L-Aspartic Acid(DB00128)						159.0	159.0	159.0					7																	95750981		2203	4300	6503	SO:0001819	synonymous_variant	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	g.chr7:95750981A>G	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1827T>C	7.37:g.95750981A>G			Somatic				SLC25A13_ENST00000265631.5_Silent_p.I609I|SLC25A13_ENST00000494085.1_5'UTR|SLC25A13_ENST00000542654.1_Silent_p.I501I	p.I610I	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	WXS	Illumina GAIIx	Phase_I	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)		17	2020	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		609					O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Silent	SNP	ENST00000265631.5	37	c.1830T>C	CCDS5645.1																																																																																				0.413	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		79	244	79	244	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100684772	100684772	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr7:100684772A>G	ENST00000306151.4	+	3	10139	c.10075A>G	c.(10075-10077)Acc>Gcc	p.T3359A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3359	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.T3359A(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGAGGCTAGCACCCTTTCCAC	0.488																																						ENST00000306151.4																			1	Substitution - Missense(1)	p.T3359A(1)	prostate(1)	NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(10075-10077)Acc>Gcc		mucin 17, cell surface associated							308.0	317.0	314.0					7																	100684772		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684772A>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10075A>G	7.37:g.100684772A>G	ENSP00000302716:p.Thr3359Ala		Somatic					p.T3359A	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			3	10139	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3359			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.10075A>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	7.783	0.709952	0.15239	.	.	ENSG00000169876	ENST00000306151	T	0.01887	4.58	1.44	-2.88	0.05682	.	.	.	.	.	T	0.03220	0.0094	N	0.24115	0.695	0.09310	N	1	D	0.58268	0.982	D	0.67548	0.952	T	0.33033	-0.9884	9	0.23891	T	0.37	.	2.2978	0.04154	0.581:0.0:0.1777:0.2414	.	3359	Q685J3	MUC17_HUMAN	A	3359	ENSP00000302716:T3359A	ENSP00000302716:T3359A	T	+	1	0	MUC17	100471492	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.999000	0.01467	-0.908000	0.03857	0.165000	0.16767	ACC		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		123	436	123	436	---	---	---	---
TNFRSF10A	8797	broad.mit.edu	37	8	23056931	23056931	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr8:23056931C>A	ENST00000221132.3	-	8	926	c.862G>T	c.(862-864)Ggg>Tgg	p.G288W		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	288					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|signal transduction (GO:0007165)|TRAIL-activated apoptotic signaling pathway (GO:0036462)	integral component of membrane (GO:0016021)	death receptor activity (GO:0005035)|protease binding (GO:0002020)|receptor activity (GO:0004872)|TRAIL binding (GO:0045569)|transcription factor binding (GO:0008134)	p.G288W(2)		NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		GCCCCAGGCCCTCGTAGGAGA	0.602																																						ENST00000221132.3																			2	Substitution - Missense(2)	p.G288W(2)	prostate(2)	NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16						c.(862-864)Ggg>Tgg		tumor necrosis factor receptor superfamily, member 10a							78.0	79.0	79.0					8																	23056931		2203	4300	6503	SO:0001583	missense	8797				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding	g.chr8:23056931C>A	U90875	CCDS6039.1	8p21	2006-02-22			ENSG00000104689	ENSG00000104689		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11904	protein-coding gene	gene with protein product		603611				9311998, 9082980	Standard	NM_003844		Approved	DR4, Apo2, TRAILR-1, CD261	uc003xda.3	O00220	OTTHUMG00000097843	ENST00000221132.3:c.862G>T	8.37:g.23056931C>A	ENSP00000221132:p.Gly288Trp		Somatic					p.G288W	NM_003844.3	NP_003835.3	WXS	Illumina GAIIx	Phase_I	O00220	TR10A_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)	8	926	-		Prostate(55;0.0421)|Breast(100;0.14)	288					A8K5I4|Q53Y72|Q96E62	Missense_Mutation	SNP	ENST00000221132.3	37	c.862G>T	CCDS6039.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076509	0.36662	.	.	ENSG00000104689	ENST00000221132	D	0.84660	-1.88	3.69	-0.429	0.12303	.	12.694400	0.00797	N	0.001383	T	0.79834	0.4514	L	0.50333	1.59	0.09310	N	1	P	0.39131	0.661	B	0.36186	0.219	T	0.66168	-0.5991	10	0.72032	D	0.01	.	2.6408	0.04970	0.2117:0.4169:0.0:0.3713	.	288	O00220	TR10A_HUMAN	W	288	ENSP00000221132:G288W	ENSP00000221132:G288W	G	-	1	0	TNFRSF10A	23112876	0.002000	0.14202	0.000000	0.03702	0.011000	0.07611	0.222000	0.17699	-0.009000	0.14296	0.591000	0.81541	GGG		0.602	TNFRSF10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215133.2	NM_003844		4	90	4	90	---	---	---	---
CACNB2	783	broad.mit.edu	37	10	18828621	18828621	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr10:18828621G>A	ENST00000324631.7	+	14	2011	c.1951G>A	c.(1951-1953)Gag>Aag	p.E651K	CACNB2_ENST00000377315.4_Missense_Mutation_p.E603K|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377328.1_Missense_Mutation_p.E401K|CACNB2_ENST00000377329.4_Missense_Mutation_p.E597K|CACNB2_ENST00000282343.8_Missense_Mutation_p.E623K|RP11-499P20.2_ENST00000436485.1_RNA|CACNB2_ENST00000396576.2_Missense_Mutation_p.E596K|CACNB2_ENST00000377319.3_Missense_Mutation_p.E558K|CACNB2_ENST00000377331.2_Missense_Mutation_p.E599K|CACNB2_ENST00000352115.6_Missense_Mutation_p.E627K	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	651					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)	p.E596K(1)|p.E627K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGAGGCTGGGGAGTGGAACAG	0.423																																						ENST00000396576.2																			2	Substitution - Missense(2)	p.E596K(1)|p.E627K(1)	prostate(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31						c.(1786-1788)Gag>Aag		calcium channel, voltage-dependent, beta 2 subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						69.0	67.0	67.0					10																	18828621		2203	4299	6502	SO:0001583	missense	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18828621G>A	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1951G>A	10.37:g.18828621G>A	ENSP00000320025:p.Glu651Lys		Somatic				CACNB2_ENST00000352115.6_Missense_Mutation_p.E627K|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377319.3_Missense_Mutation_p.E558K|CACNB2_ENST00000324631.7_Missense_Mutation_p.E651K|CACNB2_ENST00000377328.1_Missense_Mutation_p.E401K|CACNB2_ENST00000377331.2_Missense_Mutation_p.E599K|CACNB2_ENST00000282343.8_Missense_Mutation_p.E623K|CACNB2_ENST00000377329.4_Missense_Mutation_p.E597K|CACNB2_ENST00000377315.4_Missense_Mutation_p.E603K	p.E596K	NM_000724.3	NP_000715.2	WXS	Illumina GAIIx	Phase_I	Q08289	CACB2_HUMAN			13	2287	+			651					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	c.1786G>A	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998954	0.74818	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;D;D;D;D;D;D;D;D	0.84070	-1.75;-1.76;-1.8;-1.74;-1.77;-1.75;-1.77;-1.75;-1.74	5.17	5.17	0.71159	.	0.342118	0.33875	N	0.004462	T	0.79845	0.4516	L	0.38175	1.15	0.58432	D	0.999993	B;P;D;P;B;P;P;B;B;P;B;P;P	0.53745	0.155;0.77;0.962;0.568;0.425;0.694;0.469;0.081;0.425;0.852;0.286;0.695;0.77	B;B;P;B;B;B;B;B;B;B;B;B;B	0.44422	0.034;0.101;0.449;0.063;0.063;0.204;0.05;0.046;0.101;0.204;0.169;0.423;0.101	T	0.80591	-0.1314	10	0.42905	T	0.14	-14.4893	18.8737	0.92327	0.0:0.0:1.0:0.0	.	565;623;401;603;573;597;607;558;599;623;613;627;651	B7Z1U5;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	K	651;627;401;623;599;596;558;597;603	ENSP00000320025:E651K;ENSP00000344474:E627K;ENSP00000366545:E401K;ENSP00000282343:E623K;ENSP00000366548:E599K;ENSP00000379821:E596K;ENSP00000366536:E558K;ENSP00000366546:E597K;ENSP00000366532:E603K	ENSP00000282343:E623K	E	+	1	0	CACNB2	18868627	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.160000	0.94734	2.703000	0.92315	0.655000	0.94253	GAG		0.423	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		9	120	9	120	---	---	---	---
OR5I1	10798	broad.mit.edu	37	11	55703643	55703643	+	Missense_Mutation	SNP	G	G	T	rs144543203		TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr11:55703643G>T	ENST00000301532.3	-	1	233	c.234C>A	c.(232-234)gaC>gaA	p.D78E		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	78					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D78E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGGGAACAATGTCTGAGAAAT	0.383																																						ENST00000301532.3																			1	Substitution - Missense(1)	p.D78E(1)	prostate(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(232-234)gaC>gaA		olfactory receptor, family 5, subfamily I, member 1							49.0	51.0	50.0					11																	55703643		2198	4295	6493	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703643G>T	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.234C>A	11.37:g.55703643G>T	ENSP00000301532:p.Asp78Glu		Somatic					p.D78E	NM_006637.1	NP_006628.1	WXS	Illumina GAIIx	Phase_I	Q13606	OR5I1_HUMAN			1	233	-			78					Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.234C>A	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.558810	0.27827	.	.	ENSG00000167825	ENST00000301532	T	0.00428	7.44	5.05	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	0.338625	0.21274	N	0.077269	T	0.00241	0.0007	L	0.34521	1.04	0.09310	N	1	B	0.17667	0.023	B	0.12837	0.008	T	0.49716	-0.8910	10	0.72032	D	0.01	.	1.8233	0.03115	0.1784:0.1621:0.4922:0.1674	.	78	Q13606	OR5I1_HUMAN	E	78	ENSP00000301532:D78E	ENSP00000301532:D78E	D	-	3	2	OR5I1	55460219	0.000000	0.05858	0.974000	0.42286	0.631000	0.37964	-1.582000	0.02117	0.624000	0.30286	0.637000	0.83480	GAC		0.383	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		4	104	4	104	---	---	---	---
ROBO4	54538	broad.mit.edu	37	11	124756546	124756546	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr11:124756546C>T	ENST00000306534.3	-	16	3093	c.2608G>A	c.(2608-2610)Gag>Aag	p.E870K	RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.E725K	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	870					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.E870K(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		AAGGAGCCCTCGCTGGGGGTG	0.667																																						ENST00000306534.3																			1	Substitution - Missense(1)	p.E870K(1)	prostate(1)	NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76						c.(2608-2610)Gag>Aag		roundabout, axon guidance receptor, homolog 4 (Drosophila)							21.0	24.0	23.0					11																	124756546		2200	4299	6499	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124756546C>T	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.2608G>A	11.37:g.124756546C>T	ENSP00000304945:p.Glu870Lys		Somatic				RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.E725K	p.E870K	NM_019055.5	NP_061928.4	WXS	Illumina GAIIx	Phase_I	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	16	3093	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	870					A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.2608G>A	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212673	0.79240	.	.	ENSG00000154133	ENST00000306534;ENST00000533054	T;T	0.64438	-0.1;0.27	4.94	4.03	0.46877	.	0.000000	0.36893	N	0.002358	T	0.70465	0.3227	M	0.69823	2.125	0.30237	N	0.79533	D;D	0.67145	0.995;0.996	P;P	0.54312	0.748;0.642	T	0.71368	-0.4614	10	0.42905	T	0.14	.	13.3088	0.60368	0.0:0.9236:0.0:0.0764	.	870;870	Q8WZ75-2;Q8WZ75	.;ROBO4_HUMAN	K	870;725	ENSP00000304945:E870K;ENSP00000437129:E725K	ENSP00000304945:E870K	E	-	1	0	ROBO4	124261756	1.000000	0.71417	0.969000	0.41365	0.995000	0.86356	4.981000	0.63819	1.202000	0.43218	0.655000	0.94253	GAG		0.667	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		14	33	14	33	---	---	---	---
ATP2B1	490	broad.mit.edu	37	12	90020309	90020309	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr12:90020309T>C	ENST00000428670.3	-	8	1507	c.1051A>G	c.(1051-1053)Aaa>Gaa	p.K351E	ATP2B1_ENST00000393164.2_Missense_Mutation_p.K94E|ATP2B1_ENST00000359142.3_Missense_Mutation_p.K351E|ATP2B1_ENST00000261173.2_Missense_Mutation_p.K351E|ATP2B1_ENST00000348959.3_Missense_Mutation_p.K351E			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	351					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.K351E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						AAATTTGCTTTCTTTTTATCT	0.373																																						ENST00000428670.3																			1	Substitution - Missense(1)	p.K351E(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(1051-1053)Aaa>Gaa		ATPase, Ca++ transporting, plasma membrane 1							113.0	108.0	110.0					12																	90020309		2203	4300	6503	SO:0001583	missense	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:90020309T>C	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.1051A>G	12.37:g.90020309T>C	ENSP00000392043:p.Lys351Glu		Somatic				ATP2B1_ENST00000348959.3_Missense_Mutation_p.K351E|ATP2B1_ENST00000393164.2_Missense_Mutation_p.K94E|ATP2B1_ENST00000359142.3_Missense_Mutation_p.K351E|ATP2B1_ENST00000261173.2_Missense_Mutation_p.K351E	p.K351E			WXS	Illumina GAIIx	Phase_I	P20020	AT2B1_HUMAN			8	1507	-			351					Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	c.1051A>G	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.147228	0.57151	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.94457	-3.26;-3.23;-3.27;-3.26;-3.43	5.56	5.56	0.83823	.	0.046083	0.85682	D	0.000000	D	0.92378	0.7581	L	0.55103	1.725	0.48632	D	0.999684	B;B;B	0.33694	0.421;0.049;0.01	B;B;B	0.33750	0.169;0.101;0.01	D	0.90956	0.4809	9	.	.	.	-11.339	15.7182	0.77685	0.0:0.0:0.0:1.0	.	351;351;351	P20020-3;P20020-2;P20020-6	.;.;.	E	351;351;351;351;94	ENSP00000261173:K351E;ENSP00000343599:K351E;ENSP00000352054:K351E;ENSP00000392043:K351E;ENSP00000376869:K94E	.	K	-	1	0	ATP2B1	88544440	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.290000	0.72712	2.122000	0.65172	0.533000	0.62120	AAA		0.373	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682		21	190	21	190	---	---	---	---
PDS5B	23047	broad.mit.edu	37	13	33252986	33252986	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr13:33252986A>G	ENST00000315596.10	+	10	1163	c.977A>G	c.(976-978)cAt>cGt	p.H326R		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	326				H -> N (in Ref. 8; AAH39256). {ECO:0000305}.	cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.H326R(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AATGATATCCATGTACCAATC	0.333																																						ENST00000315596.10																			1	Substitution - Missense(1)	p.H326R(1)	prostate(1)	NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62						c.(976-978)cAt>cGt		PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)							111.0	99.0	103.0					13																	33252986		1835	4088	5923	SO:0001583	missense	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33252986A>G	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.977A>G	13.37:g.33252986A>G	ENSP00000313851:p.His326Arg		Somatic					p.H326R	NM_015032.3	NP_055847.1	WXS	Illumina GAIIx	Phase_I	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	10	1163	+		Lung SC(185;0.0367)	326	H -> N (in Ref. 8; AAH39256).				Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	c.977A>G	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.620733	0.87460	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	T	0.67523	-0.27	5.49	5.49	0.81192	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72020	0.3409	L	0.51422	1.61	0.80722	D	1	P;P	0.51057	0.941;0.529	P;B	0.54026	0.74;0.228	T	0.71669	-0.4523	10	0.39692	T	0.17	-25.7285	15.5881	0.76502	1.0:0.0:0.0:0.0	.	326;326	Q9NTI5;Q9NTI5-3	PDS5B_HUMAN;.	R	326	ENSP00000313851:H326R	ENSP00000313851:H326R	H	+	2	0	PDS5B	32150986	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.233000	0.95337	2.090000	0.63153	0.459000	0.35465	CAT		0.333	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		17	84	17	84	---	---	---	---
CHD8	57680	broad.mit.edu	37	14	21871248	21871248	+	Silent	SNP	A	A	G			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr14:21871248A>G	ENST00000557364.1	-	18	3905	c.3642T>C	c.(3640-3642)ctT>ctC	p.L1214L	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Silent_p.L935L|CHD8_ENST00000399982.2_Silent_p.L1214L			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1214	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.L1214L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GATTAATACCAAGTCCACCAG	0.483																																						ENST00000399982.2																			1	Substitution - coding silent(1)	p.L1214L(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(3640-3642)ctT>ctC		chromodomain helicase DNA binding protein 8							67.0	70.0	69.0					14																	21871248		2152	4282	6434	SO:0001819	synonymous_variant	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21871248A>G	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.3642T>C	14.37:g.21871248A>G			Somatic				CHD8_ENST00000430710.3_Silent_p.L935L|CHD8_ENST00000557364.1_Silent_p.L1214L|CHD8_ENST00000555962.1_Intron	p.L1214L	NM_001170629.1	NP_001164100.1	WXS	Illumina GAIIx	Phase_I	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	17	3706	-	all_cancers(95;0.00121)		1214			Helicase C-terminal.		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Silent	SNP	ENST00000557364.1	37	c.3642T>C	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	A	6.905	0.536553	0.13188	.	.	ENSG00000100888	ENST00000555935	.	.	.	5.32	4.18	0.49190	.	.	.	.	.	T	0.56031	0.1958	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52170	-0.8611	4	.	.	.	-17.3752	6.9407	0.24490	0.7706:0.15:0.0794:0.0	.	.	.	.	R	440	.	.	W	-	1	0	CHD8	20941088	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.806000	0.38892	1.034000	0.39945	0.533000	0.62120	TGG		0.483	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		3	89	3	89	---	---	---	---
OSGIN1	29948	broad.mit.edu	37	16	83998851	83998851	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr16:83998851T>C	ENST00000343939.2	+	7	1305	c.922T>C	c.(922-924)Ttc>Ctc	p.F308L	OSGIN1_ENST00000393306.1_Missense_Mutation_p.F225L|OSGIN1_ENST00000361711.3_Missense_Mutation_p.F225L			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	308					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)	p.F308L(1)		autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						GGTGAGCGGCTTCCTGACCAG	0.692																																						ENST00000343939.2																			1	Substitution - Missense(1)	p.F308L(1)	prostate(1)	autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(922-924)Ttc>Ctc		oxidative stress induced growth inhibitor 1							46.0	52.0	50.0					16																	83998851		2200	4299	6499	SO:0001583	missense	29948				cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	g.chr16:83998851T>C	AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived growth inhibitor"", ""pregnancy induced growth inhibitor"""	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.922T>C	16.37:g.83998851T>C	ENSP00000343376:p.Phe308Leu		Somatic				OSGIN1_ENST00000361711.3_Missense_Mutation_p.F225L|OSGIN1_ENST00000393306.1_Missense_Mutation_p.F225L	p.F308L			WXS	Illumina GAIIx	Phase_I	Q9UJX0	OSGI1_HUMAN			7	1305	+			308					Q52M33|Q86UQ1|Q96S88|Q9BZ70	Missense_Mutation	SNP	ENST00000343939.2	37	c.922T>C		.	.	.	.	.	.	.	.	.	.	T	8.471	0.857606	0.17106	.	.	ENSG00000140961	ENST00000343939;ENST00000361711;ENST00000393306	T;T;T	0.37235	1.21;1.21;1.21	4.8	1.03	0.20045	.	0.224686	0.47093	D	0.000256	T	0.25938	0.0632	L	0.48642	1.525	0.80722	D	1	B	0.21071	0.051	B	0.17433	0.018	T	0.05099	-1.0906	10	0.30854	T	0.27	-8.5591	6.3826	0.21544	0.2745:0.0:0.1433:0.5822	.	308	Q9UJX0	OSGI1_HUMAN	L	308;225;225	ENSP00000343376:F308L;ENSP00000355374:F225L;ENSP00000376983:F225L	ENSP00000343376:F308L	F	+	1	0	OSGIN1	82556352	0.999000	0.42202	0.869000	0.34112	0.073000	0.16967	1.635000	0.37134	-0.114000	0.11936	-0.691000	0.03719	TTC		0.692	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	NM_013370		21	69	21	69	---	---	---	---
FXR2	9513	broad.mit.edu	37	17	7495581	7495581	+	Silent	SNP	T	T	C			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr17:7495581T>C	ENST00000250113.7	-	16	2251	c.1917A>G	c.(1915-1917)tcA>tcG	p.S639S	FXR2_ENST00000573057.1_5'UTR|SOX15_ENST00000250055.2_5'Flank|SOX15_ENST00000538513.2_5'Flank|MPDU1_ENST00000423172.2_Intron|SOX15_ENST00000570788.1_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	639						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S639S(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CCTTCTGTCCTGAAAGAGAGT	0.507																																						ENST00000250113.7																			1	Substitution - coding silent(1)	p.S639S(1)	prostate(1)	NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(1915-1917)tcA>tcG		fragile X mental retardation, autosomal homolog 2							124.0	124.0	124.0					17																	7495581		1963	4160	6123	SO:0001819	synonymous_variant	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7495581T>C	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1917A>G	17.37:g.7495581T>C			Somatic				MPDU1_ENST00000423172.2_Intron|FXR2_ENST00000573057.1_5'UTR	p.S639S	NM_004860.3	NP_004851.2	WXS	Illumina GAIIx	Phase_I	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	16	2251	-			639					B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Silent	SNP	ENST00000250113.7	37	c.1917A>G	CCDS45604.1																																																																																				0.507	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			3	144	3	144	---	---	---	---
STAT5B	6777	broad.mit.edu	37	17	40362212	40362212	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr17:40362212G>A	ENST00000293328.3	-	15	2051	c.1883C>T	c.(1882-1884)aCc>aTc	p.T628I		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	628	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.T628I(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	CCAAGCAATGGTGATGCCGCC	0.428																																						ENST00000293328.3																			1	Substitution - Missense(1)	p.T628I(1)	prostate(1)	breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1882-1884)aCc>aTc		signal transducer and activator of transcription 5B	Dasatinib(DB01254)						122.0	108.0	112.0					17																	40362212		2203	4300	6503	SO:0001583	missense	6777				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity	g.chr17:40362212G>A	BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1883C>T	17.37:g.40362212G>A	ENSP00000293328:p.Thr628Ile		Somatic					p.T628I	NM_012448.3	NP_036580.2	WXS	Illumina GAIIx	Phase_I	P51692	STA5B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.135)	15	2051	-		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)	628			SH2.		Q8WWS8	Missense_Mutation	SNP	ENST00000293328.3	37	c.1883C>T	CCDS11423.1	.	.	.	.	.	.	.	.	.	.	G	33	5.284250	0.95517	.	.	ENSG00000173757	ENST00000293328	T	0.54675	0.56	5.44	5.44	0.79542	SH2 motif (4);	0.000000	0.85682	D	0.000000	T	0.74230	0.3689	M	0.76727	2.345	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76066	-0.3095	10	0.87932	D	0	-1.0439	19.4568	0.94895	0.0:0.0:1.0:0.0	.	628	P51692	STA5B_HUMAN	I	628	ENSP00000293328:T628I	ENSP00000293328:T628I	T	-	2	0	STAT5B	37615738	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.461000	0.97646	2.832000	0.97577	0.655000	0.94253	ACC		0.428	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448		3	86	3	86	---	---	---	---
GIPC3	126326	broad.mit.edu	37	19	3589510	3589510	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr19:3589510C>A	ENST00000322315.5	+	4	707	c.662C>A	c.(661-663)aCc>aAc	p.T221N		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	221			T -> I (in DFNB15). {ECO:0000269|PubMed:21660509}.					p.T221N(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGAGGGAGACCCTGCGGCTT	0.612																																						ENST00000322315.5																			1	Substitution - Missense(1)	p.T221N(1)	prostate(1)	breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10						c.(661-663)aCc>aAc		GIPC PDZ domain containing family, member 3							51.0	56.0	55.0					19																	3589510		2203	4300	6503	SO:0001583	missense	126326							g.chr19:3589510C>A	AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855			18183	protein-coding gene	gene with protein product		608792	"""chromosome 19 open reading frame 64"", ""deafness, autosomal recessive 72"", ""deafness, autosomal recessive 15"""	C19orf64, DFNB72, DFNB15		11836571, 21326233	Standard	NM_133261		Approved	DFNB95	uc002lyd.4	Q8TF64		ENST00000322315.5:c.662C>A	19.37:g.3589510C>A	ENSP00000319254:p.Thr221Asn		Somatic					p.T221N	NM_133261.2	NP_573568.1	WXS	Illumina GAIIx	Phase_I	Q8TF64	GIPC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)	4	707	+			221					O75227	Missense_Mutation	SNP	ENST00000322315.5	37	c.662C>A	CCDS32871.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474872	0.84640	.	.	ENSG00000179855	ENST00000322315	D	0.87179	-2.22	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	D	0.93357	0.7882	M	0.83312	2.635	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	D	0.94404	0.7625	10	0.87932	D	0	-33.5991	14.6376	0.68702	0.0:1.0:0.0:0.0	.	221	Q8TF64	GIPC3_HUMAN	N	221	ENSP00000319254:T221N	ENSP00000319254:T221N	T	+	2	0	GIPC3	3540510	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	6.368000	0.73104	2.034000	0.60081	0.484000	0.47621	ACC		0.612	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394577.1	NM_133261		10	81	10	81	---	---	---	---
ZNF181	339318	broad.mit.edu	37	19	35232275	35232275	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr19:35232275T>C	ENST00000492450.1	+	4	1078	c.989T>C	c.(988-990)tTt>tCt	p.F330S	ZNF181_ENST00000459757.2_Missense_Mutation_p.F329S|ZNF181_ENST00000392232.3_Missense_Mutation_p.F374S			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	330					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.F266S(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GGAAAGTCTTTTAGTCGTGTG	0.398																																						ENST00000392232.3																			1	Substitution - Missense(1)	p.F266S(1)	prostate(1)	endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22						c.(1120-1122)tTt>tCt		zinc finger protein 181							82.0	81.0	81.0					19																	35232275		2203	4300	6503	SO:0001583	missense	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35232275T>C	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"""Zinc fingers, C2H2-type"", ""-"""	12971	protein-coding gene	gene with protein product		606741	"""zinc finger protein 181 (HHZ181)"""				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.989T>C	19.37:g.35232275T>C	ENSP00000420727:p.Phe330Ser		Somatic				ZNF181_ENST00000459757.2_Missense_Mutation_p.F329S|ZNF181_ENST00000492450.1_Missense_Mutation_p.F330S	p.F374S			WXS	Illumina GAIIx	Phase_I	Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		6	1289	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		330					B7ZKX3|Q49A75	Missense_Mutation	SNP	ENST00000492450.1	37	c.1121T>C	CCDS32990.2	.	.	.	.	.	.	.	.	.	.	T	17.07	3.295411	0.60086	.	.	ENSG00000197841	ENST00000392232;ENST00000425140;ENST00000492450;ENST00000459757	T;T;T	0.47869	0.83;0.83;0.83	2.99	2.99	0.34606	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.70622	0.3245	M	0.90019	3.08	0.37232	D	0.905749	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78259	-0.2273	9	0.87932	D	0	.	9.7095	0.40236	0.0:0.0:0.0:1.0	.	329;330	B7ZKX3;Q2M3W8	.;ZN181_HUMAN	S	374;329;330;329	ENSP00000376065:F374S;ENSP00000420727:F330S;ENSP00000419435:F329S	ENSP00000376065:F374S	F	+	2	0	ZNF181	39924115	1.000000	0.71417	0.992000	0.48379	0.930000	0.56654	6.786000	0.75094	1.604000	0.50143	0.459000	0.35465	TTT		0.398	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997		3	168	3	168	---	---	---	---
ZNFX1	57169	broad.mit.edu	37	20	47864642	47864642	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr20:47864642A>G	ENST00000396105.1	-	14	5165	c.4919T>C	c.(4918-4920)cTa>cCa	p.L1640P	ZNFX1_ENST00000371752.1_Missense_Mutation_p.L1640P|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1640							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.L1640P(2)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AATCTCTTCTAGCCGCTGTTT	0.507																																						ENST00000396105.1																			2	Substitution - Missense(2)	p.L1640P(2)	prostate(2)	cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(4918-4920)cTa>cCa		zinc finger, NFX1-type containing 1							61.0	60.0	60.0					20																	47864642		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47864642A>G	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.4919T>C	20.37:g.47864642A>G	ENSP00000379412:p.Leu1640Pro		Somatic				ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.L1640P	p.L1640P	NM_021035.2	NP_066363.1	WXS	Illumina GAIIx	Phase_I	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		14	5165	-			1640					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.4919T>C	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	A	17.48	3.400193	0.62177	.	.	ENSG00000124201	ENST00000371752;ENST00000396105	T;T	0.57595	0.39;0.39	6.04	6.04	0.98038	.	0.078488	0.53938	D	0.000055	T	0.70971	0.3285	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.73547	-0.3948	10	0.72032	D	0.01	-7.3466	15.4003	0.74834	1.0:0.0:0.0:0.0	.	1640	Q9P2E3	ZNFX1_HUMAN	P	1640	ENSP00000360817:L1640P;ENSP00000379412:L1640P	ENSP00000360817:L1640P	L	-	2	0	ZNFX1	47298049	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	9.283000	0.95860	2.317000	0.78254	0.459000	0.35465	CTA		0.507	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		42	82	42	82	---	---	---	---
SHOX	6473	broad.mit.edu	37	X	601572	601572	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chrX:601572G>A	ENST00000554971.1	+	3	594	c.503G>A	c.(502-504)cGg>cAg	p.R168Q	SHOX_ENST00000381578.1_Missense_Mutation_p.R168Q|SHOX_ENST00000334060.3_Missense_Mutation_p.R168Q|SHOX_ENST00000381575.1_Missense_Mutation_p.R168Q			O15266	SHOX_HUMAN	short stature homeobox	168			R -> W (in LMD). {ECO:0000269|PubMed:11889214}.		skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R168Q(1)		endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTCCAGAACCGGAGAGCCAAG	0.592																																					Ovarian(95;18 1419 12424 14056 28266)	ENST00000381578.1																			1	Substitution - Missense(1)	p.R168Q(1)	prostate(1)	endometrium(3)|lung(9)|prostate(1)	13	GRCh37	CM014908	SHOX	M		c.(502-504)cGg>cAg		short stature homeobox							155.0	165.0	161.0					X																	601572		2203	4296	6499	SO:0001583	missense	6473				skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:601572G>A	U82668	CCDS14106.1, CCDS14107.1	Xp22.33 and Yp11.32	2014-07-16			ENSG00000185960	ENSG00000185960		"""Pseudoautosomal regions / PAR1"", ""Homeoboxes / PRD class"""	10853	protein-coding gene	gene with protein product		312865, 400020				9259282, 9140395	Standard	XR_247282		Approved	PHOG, GCFX, SS, SHOXY	uc004cph.1	O15266	OTTHUMG00000021053	ENST00000554971.1:c.503G>A	X.37:g.601572G>A	ENSP00000452016:p.Arg168Gln		Somatic				SHOX_ENST00000334060.3_Missense_Mutation_p.R168Q|SHOX_ENST00000554971.1_Missense_Mutation_p.R168Q|SHOX_ENST00000381575.1_Missense_Mutation_p.R168Q	p.R168Q	NM_000451.3	NP_000442.1	WXS	Illumina GAIIx	Phase_I	O15266	SHOX_HUMAN			4	1194	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	168		R -> W (in LMD).			O00412|O00413|O15267	Missense_Mutation	SNP	ENST00000554971.1	37	c.503G>A	CCDS14107.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.661595	0.47572	.	.	ENSG00000185960	ENST00000334060;ENST00000381578;ENST00000554971;ENST00000381575	D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36	1.36	1.36	0.22044	Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.98429	0.9477	M	0.93106	3.38	0.09310	N	0.999999	D;D	0.89917	0.997;1.0	D;D	0.77557	0.922;0.99	D	0.94127	0.7385	10	0.87932	D	0	.	11.1805	0.48625	0.0:0.0:1.0:0.0	.	168;168	O15266-2;O15266	.;SHOX_HUMAN	Q	168	ENSP00000335505:R168Q;ENSP00000370990:R168Q;ENSP00000452016:R168Q;ENSP00000370987:R168Q	ENSP00000335505:R168Q	R	+	2	0	SHOX	521572	1.000000	0.71417	0.987000	0.45799	0.576000	0.36127	7.194000	0.77789	0.723000	0.32274	0.115000	0.15696	CGG		0.592	SHOX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411999.3	NM_000451		45	137	45	137	---	---	---	---
MID2	11043	broad.mit.edu	37	X	107159358	107159358	+	Splice_Site	SNP	A	A	G			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chrX:107159358A>G	ENST00000262843.6	+	6	1748	c.1200A>G	c.(1198-1200)acA>acG	p.T400T	MID2_ENST00000443968.2_Splice_Site_p.T400T|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	400	Fibronectin type-III.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.T380T(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						ATTATTTAACAGGTGTGAAAA	0.274																																						ENST00000262843.6																			1	Substitution - coding silent(1)	p.T380T(1)	prostate(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						c.(1198-1200)acA>acG		midline 2							78.0	83.0	81.0					X																	107159358		2202	4295	6497	SO:0001630	splice_region_variant	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107159358A>G		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.1201+1A>G	X.37:g.107159358A>G			Somatic				RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Splice_Site_p.T400T	p.T400T	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	WXS	Illumina GAIIx	Phase_I	Q9UJV3	TRIM1_HUMAN			6	1748	+			400			Fibronectin type-III.		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Splice_Site	SNP	ENST00000262843.6	37	c.1200A>G	CCDS14532.2																																																																																				0.274	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216	Silent	3	196	3	196	---	---	---	---
SPANXN1	494118	broad.mit.edu	37	X	144337274	144337274	+	Silent	SNP	G	G	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chrX:144337274G>T	ENST00000370493.3	+	2	918	c.159G>T	c.(157-159)gcG>gcT	p.A53A		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	53								p.A53A(4)		endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					CAGTATTAGCGTTTTGCTACA	0.433																																						ENST00000370493.3																			4	Substitution - coding silent(4)	p.A53A(4)	urinary_tract(2)|prostate(2)	endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14						c.(157-159)gcG>gcT		SPANX family, member N1							181.0	156.0	164.0					X																	144337274		2203	4297	6500	SO:0001819	synonymous_variant	494118							g.chrX:144337274G>T		CCDS35421.1	Xq27.3	2009-03-25				ENSG00000203923			33174	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 6"""	300664				14973187, 17012309	Standard	NM_001009614		Approved	SPANX-N1, CT11.6	uc004fcb.2	Q5VSR9		ENST00000370493.3:c.159G>T	X.37:g.144337274G>T			Somatic					p.A53A	NM_001009614.2	NP_001009614.1	WXS	Illumina GAIIx	Phase_I	Q5VSR9	SPXN1_HUMAN			2	918	+	Acute lymphoblastic leukemia(192;6.56e-05)		53						Silent	SNP	ENST00000370493.3	37	c.159G>T	CCDS35421.1																																																																																				0.433	SPANXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058631.2	NM_001009614		3	123	3	123	---	---	---	---
USP31	57478	broad.mit.edu	37	16	23080918	23080918	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr16:23080918delT	ENST00000219689.7	-	16	2507	c.2508delA	c.(2506-2508)ccafs	p.P836fs	USP31_ENST00000567975.1_Frame_Shift_Del_p.P129fs	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TTCTCACAAATGGTCGAGTTG	0.443																																						ENST00000219689.7																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57						c.(2506-2508)ccafs		ubiquitin specific peptidase 31							44.0	39.0	40.0					16																	23080918		2197	4300	6497	SO:0001589	frameshift_variant	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23080918delT	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.2508delA	16.37:g.23080918delT	ENSP00000219689:p.Pro836fs		Somatic				USP31_ENST00000567975.1_Frame_Shift_Del_p.P129fs	p.P836fs	NM_020718.3	NP_065769.3	WXS	Illumina GAIIx	Phase_I	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	16	2507	-			836			Ser-rich.		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Frame_Shift_Del	DEL	ENST00000219689.7	37	c.2508delA	CCDS10607.1																																																																																				0.443	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		12	49	12	49	---	---	---	---
