#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
PRAMEF1	65121	broad.mit.edu	37	1	12854346	12854346	+	Silent	SNP	G	G	A	rs577183721	byFrequency	TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr1:12854346G>A	ENST00000332296.7	+	3	673	c.570G>A	c.(568-570)acG>acA	p.T190T	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	190					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATTATCTAACGCCGATTAAAT	0.408													g|||	3	0.000599042	0.0	0.0	5008	,	,		28156	0.0		0.0	False		,,,				2504	0.0031					ENST00000332296.7																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(568-570)acG>acA		PRAME family member 1							197.0	211.0	206.0					1																	12854346		2203	4300	6503	SO:0001819	synonymous_variant	65121							g.chr1:12854346G>A	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.570G>A	1.37:g.12854346G>A			Somatic					p.T190T	NM_023013.2	NP_075389.1	WXS	Illumina GAIIx	Phase_I	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	673	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	190					Q9UQP2	Silent	SNP	ENST00000332296.7	37	c.570G>A	CCDS148.1																																																																																				0.408	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		9	576	9	576	---	---	---	---
KAZN	23254	broad.mit.edu	37	1	15386729	15386729	+	Silent	SNP	C	C	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr1:15386729C>T	ENST00000376030.2	+	6	1272	c.978C>T	c.(976-978)gcC>gcT	p.A326A	KAZN_ENST00000361144.5_Silent_p.A320A|KAZN_ENST00000503743.1_Silent_p.A326A|KAZN_ENST00000400797.3_Silent_p.A232A|KAZN_ENST00000422387.2_Silent_p.A326A|KAZN_ENST00000400798.2_Silent_p.A232A	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	326	Interaction with PPL.				keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CATCTGCCGCCGAAGGCGACC	0.672																																						ENST00000376030.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						c.(976-978)gcC>gcT		kazrin, periplakin interacting protein							88.0	89.0	89.0					1																	15386729		2203	4300	6503	SO:0001819	synonymous_variant	23254				keratinization	cornified envelope|cytoplasm|desmosome|nucleus		g.chr1:15386729C>T	AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"""Sterile alpha motif (SAM) domain containing"""	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.978C>T	1.37:g.15386729C>T			Somatic				KAZN_ENST00000503743.1_Silent_p.A326A|KAZN_ENST00000400798.2_Silent_p.A232A|KAZN_ENST00000361144.5_Silent_p.A320A|KAZN_ENST00000422387.2_Silent_p.A326A|KAZN_ENST00000400797.3_Silent_p.A232A	p.A326A	NM_201628.2	NP_963922.2	WXS	Illumina GAIIx	Phase_I	Q674X7	KAZRN_HUMAN			6	1272	+			326			Interaction with PPL.		B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Silent	SNP	ENST00000376030.2	37	c.978C>T	CCDS152.2																																																																																				0.672	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999		8	102	8	102	---	---	---	---
ARHGEF2	9181	broad.mit.edu	37	1	155931510	155931510	+	Missense_Mutation	SNP	C	C	G			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr1:155931510C>G	ENST00000361247.4	-	11	1509	c.1410G>C	c.(1408-1410)agG>agC	p.R470S	ARHGEF2_ENST00000368316.1_Missense_Mutation_p.R442S|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R469S|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R442S|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.R471S|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.R515S	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	470					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGAGTTTGCGCCTCAGAAGTT	0.602																																					Melanoma(178;35 2768 6610 28839)	ENST00000462460.2																			0				breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40						c.(1543-1545)agG>agC		Rho/Rac guanine nucleotide exchange factor (GEF) 2							68.0	66.0	67.0					1																	155931510		2203	4300	6503	SO:0001583	missense	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155931510C>G	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1410G>C	1.37:g.155931510C>G	ENSP00000354837:p.Arg470Ser		Somatic				ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R469S|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.R442S|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R442S|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.R471S|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R470S	p.R515S			WXS	Illumina GAIIx	Phase_I	Q92974	ARHG2_HUMAN			15	1799	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					PH.		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	c.1545G>C	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893267	0.72524	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05	4.95	1.69	0.24217	Pleckstrin homology-type (1);	0.000000	0.44285	D	0.000478	T	0.59128	0.2171	L	0.55481	1.735	0.40437	D	0.98	P;D;D	0.76494	0.938;0.999;0.983	P;D;P	0.78314	0.771;0.991;0.885	T	0.57230	-0.7847	10	0.30854	T	0.27	-31.5745	8.7245	0.34460	0.2952:0.5607:0.1441:0.0	.	514;470;469	D3DVA5;Q92974;Q92974-2	.;ARHG2_HUMAN;.	S	442;470;471;442;469	ENSP00000315325:R442S;ENSP00000354837:R470S;ENSP00000357298:R471S;ENSP00000357299:R442S;ENSP00000314787:R469S	ENSP00000314787:R469S	R	-	3	2	ARHGEF2	154198134	0.133000	0.22466	1.000000	0.80357	0.955000	0.61496	-0.247000	0.08866	0.722000	0.32252	0.655000	0.94253	AGG		0.602	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		23	33	23	33	---	---	---	---
OR10K2	391107	broad.mit.edu	37	1	158390007	158390007	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr1:158390007G>T	ENST00000314902.2	-	1	649	c.650C>A	c.(649-651)tCc>tAc	p.S217Y		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GTGAACATAGGACACCAAGAT	0.448																																						ENST00000314902.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(649-651)tCc>tAc		olfactory receptor, family 10, subfamily K, member 2							152.0	141.0	144.0					1																	158390007		2203	4300	6503	SO:0001583	missense	391107				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158390007G>T	AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"""GPCR / Class A : Olfactory receptors"""	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.650C>A	1.37:g.158390007G>T	ENSP00000324251:p.Ser217Tyr		Somatic					p.S217Y	NM_001004476.1	NP_001004476.1	WXS	Illumina GAIIx	Phase_I	Q6IF99	O10K2_HUMAN			1	649	-	all_hematologic(112;0.0378)		217						Missense_Mutation	SNP	ENST00000314902.2	37	c.650C>A	CCDS30896.1	.	.	.	.	.	.	.	.	.	.	g	12.19	1.863787	0.32884	.	.	ENSG00000180708	ENST00000314902	T	0.46063	0.88	4.13	4.13	0.48395	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45867	D	0.000322	T	0.72669	0.3489	H	0.97390	3.995	0.43330	D	0.995364	D	0.89917	1.0	D	0.91635	0.999	D	0.83575	0.0114	10	0.87932	D	0	.	15.662	0.77193	0.0:0.0:1.0:0.0	.	217	Q6IF99	O10K2_HUMAN	Y	217	ENSP00000324251:S217Y	ENSP00000324251:S217Y	S	-	2	0	OR10K2	156656631	1.000000	0.71417	0.276000	0.24689	0.073000	0.16967	7.209000	0.77916	2.285000	0.76669	0.461000	0.40582	TCC		0.448	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	NM_001004476		24	39	24	39	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158639228	158639228	+	Missense_Mutation	SNP	C	C	G			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr1:158639228C>G	ENST00000368147.4	-	14	1983	c.1803G>C	c.(1801-1803)aaG>aaC	p.K601N		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	601					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCAACTTTTTCTTCTTGTTGA	0.423																																						ENST00000368147.4																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(1801-1803)aaG>aaC		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							283.0	264.0	270.0					1																	158639228		1913	4130	6043	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158639228C>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1803G>C	1.37:g.158639228C>G	ENSP00000357129:p.Lys601Asn		Somatic					p.K601N	NM_003126.2	NP_003117.2	WXS	Illumina GAIIx	Phase_I	P02549	SPTA1_HUMAN			14	1983	-	all_hematologic(112;0.0378)							Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.1803G>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699627	0.68501	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.56941	0.43;0.43	4.72	0.605	0.17553	.	0.000000	0.33477	N	0.004866	T	0.65270	0.2675	M	0.91920	3.255	0.45541	D	0.998497	D	0.89917	1.0	D	0.87578	0.998	T	0.67914	-0.5547	10	0.66056	D	0.02	.	8.131	0.31027	0.0:0.6397:0.0:0.3603	.	601	P02549	SPTA1_HUMAN	N	601	ENSP00000357130:K601N;ENSP00000357129:K601N	ENSP00000357129:K601N	K	-	3	2	SPTA1	156905852	0.997000	0.39634	0.998000	0.56505	0.953000	0.61014	0.482000	0.22276	0.022000	0.15160	0.655000	0.94253	AAG		0.423	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		79	140	79	140	---	---	---	---
OR2T10	127069	broad.mit.edu	37	1	248756250	248756250	+	Missense_Mutation	SNP	A	A	G			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr1:248756250A>G	ENST00000330500.2	-	1	850	c.820T>C	c.(820-822)Tca>Cca	p.S274P	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAAAAGGATGACATCATATCT	0.428																																						ENST00000330500.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26						c.(820-822)Tca>Cca		olfactory receptor, family 2, subfamily T, member 10							56.0	63.0	61.0					1																	248756250		2043	4233	6276	SO:0001583	missense	127069				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248756250A>G		CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.820T>C	1.37:g.248756250A>G	ENSP00000329210:p.Ser274Pro		Somatic					p.S274P	NM_001004693.1	NP_001004693.1	WXS	Illumina GAIIx	Phase_I	Q8NGZ9	O2T10_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	850	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		274					B2RNK7	Missense_Mutation	SNP	ENST00000330500.2	37	c.820T>C	CCDS31121.1	.	.	.	.	.	.	.	.	.	.	.	0.307	-0.970301	0.02232	.	.	ENSG00000184022	ENST00000330500	T	0.37411	1.2	2.35	0.359	0.16088	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.25121	0.0610	L	0.33245	0.995	0.09310	N	1	B	0.15719	0.014	B	0.15052	0.012	T	0.21965	-1.0230	9	0.87932	D	0	.	5.7832	0.18318	0.1946:0.6801:0.0:0.1253	.	274	Q8NGZ9	O2T10_HUMAN	P	274	ENSP00000329210:S274P	ENSP00000329210:S274P	S	-	1	0	OR2T10	246822873	0.000000	0.05858	0.005000	0.12908	0.000000	0.00434	-3.373000	0.00493	-0.636000	0.05524	-3.377000	0.00040	TCA		0.428	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1	NM_001004693		20	41	20	41	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179430936	179430936	+	Missense_Mutation	SNP	C	C	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr2:179430936C>A	ENST00000591111.1	-	276	75224	c.75000G>T	c.(74998-75000)aaG>aaT	p.K25000N	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K26641N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K24073N|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K17701N|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K17576N|TTN_ENST00000342175.6_Missense_Mutation_p.K17768N|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25000	Ig-like 123.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTTACTCCCTTTTCAATTT	0.398																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(79921-79923)aaG>aaT		titin							132.0	127.0	128.0					2																	179430936		1873	4109	5982	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179430936C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.75000G>T	2.37:g.179430936C>A	ENSP00000465570:p.Lys25000Asn		Somatic				TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K17701N|TTN_ENST00000342175.6_Missense_Mutation_p.K17768N|TTN_ENST00000591111.1_Missense_Mutation_p.K25000N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K24073N|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K17576N|TTN-AS1_ENST00000592600.1_RNA	p.K26641N	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	80147	-			25000			Fibronectin type-III 94.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.79923G>T		.	.	.	.	.	.	.	.	.	.	C	8.926	0.962262	0.18583	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.82	2.36	0.29203	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46171	0.1379	N	0.05199	-0.095	0.42195	D	0.991749	P;P;P;P	0.43231	0.801;0.801;0.801;0.801	B;B;B;B	0.43225	0.339;0.339;0.339;0.412	T	0.50162	-0.8860	9	0.87932	D	0	.	8.8507	0.35199	0.0:0.5403:0.0:0.4597	.	17576;17701;17768;25000	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	24073;17576;17768;17701;17574	ENSP00000343764:K24073N;ENSP00000434586:K17576N;ENSP00000340554:K17768N;ENSP00000352154:K17701N	ENSP00000340554:K17768N	K	-	3	2	TTN	179139182	0.873000	0.30073	1.000000	0.80357	0.989000	0.77384	-0.022000	0.12480	0.696000	0.31696	0.555000	0.69702	AAG		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	151	4	151	---	---	---	---
PLCL2	23228	broad.mit.edu	37	3	17051267	17051267	+	Missense_Mutation	SNP	G	G	C			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr3:17051267G>C	ENST00000418129.2	+	2	516	c.51G>C	c.(49-51)atG>atC	p.M17I	PLCL2_ENST00000432376.1_Missense_Mutation_p.M17I|PLCL2_ENST00000460467.1_3'UTR|PLCL2_ENST00000396755.2_Missense_Mutation_p.M17I	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	143	Gly-rich.				B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TTAATTCAATGGTTGAGGGTT	0.423																																						ENST00000418129.2																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						c.(49-51)atG>atC		phospholipase C-like 2							68.0	68.0	68.0					3																	17051267		2203	4300	6503	SO:0001583	missense	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17051267G>C	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.51G>C	3.37:g.17051267G>C	ENSP00000409637:p.Met17Ile		Somatic				PLCL2_ENST00000432376.1_Missense_Mutation_p.M17I|PLCL2_ENST00000396755.2_Missense_Mutation_p.M17I|PLCL2_ENST00000460467.1_3'UTR	p.M17I	NM_001144382.1	NP_001137854.1	WXS	Illumina GAIIx	Phase_I	Q9UPR0	PLCL2_HUMAN			2	516	+			143			Gly-rich.		A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	c.51G>C	CCDS33713.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762323	0.69763	.	.	ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	T;T;T	0.62639	0.01;0.01;0.01	5.52	5.52	0.82312	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.81259	0.4785	.	.	.	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.78314	0.971;0.991	T	0.83166	-0.0096	9	0.72032	D	0.01	.	19.4204	0.94719	0.0:0.0:1.0:0.0	.	143;17	Q9UPR0;Q9UPR0-2	PLCL2_HUMAN;.	I	17;144;17;17	ENSP00000409637:M17I;ENSP00000379979:M17I;ENSP00000412836:M17I	ENSP00000285094:M144I	M	+	3	0	PLCL2	17026271	1.000000	0.71417	0.974000	0.42286	0.963000	0.63663	9.869000	0.99810	2.599000	0.87857	0.491000	0.48974	ATG		0.423	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			24	36	24	36	---	---	---	---
KLHL18	23276	broad.mit.edu	37	3	47364056	47364056	+	Splice_Site	SNP	A	A	G			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr3:47364056A>G	ENST00000232766.5	+	3	280		c.e3-1		KLHL18_ENST00000455924.2_Splice_Site	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18											endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		TCTTTCCTCTAGTGCCCTGGA	0.542																																						ENST00000232766.5																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21						c.e3-1		kelch-like family member 18							87.0	71.0	77.0					3																	47364056		2203	4300	6503	SO:0001630	splice_region_variant	23276							g.chr3:47364056A>G	AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"""Kelch-like"", ""BTB/POZ domain containing"""	29120	protein-coding gene	gene with protein product			"""kelch-like 18 (Drosophila)"""			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.261-1A>G	3.37:g.47364056A>G			Somatic				KLHL18_ENST00000455924.2_Splice_Site		NM_025010.4	NP_079286.2	WXS	Illumina GAIIx	Phase_I	O94889	KLH18_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)	3	280	+		Acute lymphoblastic leukemia(5;0.164)						A8K612|Q7Z3E8|Q8N125	Splice_Site	SNP	ENST00000232766.5	37		CCDS33749.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.653159	0.88056	.	.	ENSG00000114648	ENST00000232766;ENST00000437353	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5603	0.68130	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KLHL18	47339060	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	9.017000	0.93651	2.229000	0.72834	0.533000	0.62120	.		0.542	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344493.1	NM_025010	Intron	20	22	20	22	---	---	---	---
PIK3R4	30849	broad.mit.edu	37	3	130452642	130452642	+	Silent	SNP	T	T	C			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr3:130452642T>C	ENST00000356763.3	-	4	1757	c.1200A>G	c.(1198-1200)gaA>gaG	p.E400E		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	400					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GAAGAATCAGTTCCAAAGCAG	0.398																																						ENST00000356763.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						c.(1198-1200)gaA>gaG		phosphoinositide-3-kinase, regulatory subunit 4							125.0	121.0	122.0					3																	130452642		2203	4300	6503	SO:0001819	synonymous_variant	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130452642T>C	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.1200A>G	3.37:g.130452642T>C			Somatic					p.E400E	NM_014602.2	NP_055417.1	WXS	Illumina GAIIx	Phase_I	Q99570	PI3R4_HUMAN			4	1757	-			400					Q2TBF4	Silent	SNP	ENST00000356763.3	37	c.1200A>G	CCDS3067.1																																																																																				0.398	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		9	98	9	98	---	---	---	---
UBXN7	26043	broad.mit.edu	37	3	196089432	196089432	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr3:196089432C>A	ENST00000296328.4	-	9	1035	c.961G>T	c.(961-963)Gaa>Taa	p.E321*	UBXN7_ENST00000428095.1_Nonsense_Mutation_p.E159*|UBXN7_ENST00000535858.1_Nonsense_Mutation_p.E173*	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	321						Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634)	transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GAAAAAAGTTCAGATTCAGAT	0.443																																						ENST00000296328.4																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						c.(961-963)Gaa>Taa		UBX domain protein 7							112.0	106.0	108.0					3																	196089432		1845	4100	5945	SO:0001587	stop_gained	26043						protein binding	g.chr3:196089432C>A	AB018337	CCDS43191.1	3q29	2012-07-06	2008-07-25	2008-07-25	ENSG00000163960	ENSG00000163960		"""UBX domain containing"""	29119	protein-coding gene	gene with protein product			"""UBX domain containing 7"""	UBXD7		9872452, 22537386	Standard	NM_015562		Approved	KIAA0794	uc003fwm.4	O94888	OTTHUMG00000155639	ENST00000296328.4:c.961G>T	3.37:g.196089432C>A	ENSP00000296328:p.Glu321*		Somatic				UBXN7_ENST00000428095.1_Nonsense_Mutation_p.E159*|UBXN7_ENST00000535858.1_Nonsense_Mutation_p.E173*	p.E321*	NM_015562.1	NP_056377.1	WXS	Illumina GAIIx	Phase_I	O94888	UBXN7_HUMAN			9	1035	-			321					D3DXB3|Q6ZP77|Q86X20|Q8N327	Nonsense_Mutation	SNP	ENST00000296328.4	37	c.961G>T	CCDS43191.1	.	.	.	.	.	.	.	.	.	.	C	39	7.548623	0.98352	.	.	ENSG00000163960	ENST00000296328;ENST00000428095;ENST00000535858	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-17.9037	20.2723	0.98479	0.0:1.0:0.0:0.0	.	.	.	.	X	321;159;173	.	ENSP00000296328:E321X	E	-	1	0	UBXN7	197573829	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.372000	0.79612	2.793000	0.96121	0.563000	0.77884	GAA		0.443	UBXN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340938.2	XM_087353		49	84	49	84	---	---	---	---
C4orf51	646603	broad.mit.edu	37	4	146601567	146601567	+	Missense_Mutation	SNP	A	A	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr4:146601567A>T	ENST00000438731.1	+	1	212	c.212A>T	c.(211-213)cAg>cTg	p.Q71L		NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	71										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						AGAGCAGGACAGCATGAGCCT	0.398																																						ENST00000438731.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						c.(211-213)cAg>cTg		chromosome 4 open reading frame 51							81.0	77.0	78.0					4																	146601567		1910	4129	6039	SO:0001583	missense	646603							g.chr4:146601567A>T		CCDS47140.1	4q31.21	2009-09-09			ENSG00000237136	ENSG00000237136			37264	protein-coding gene	gene with protein product							Standard	NM_001080531		Approved		uc003ikk.3	C9J302	OTTHUMG00000161367	ENST00000438731.1:c.212A>T	4.37:g.146601567A>T	ENSP00000391404:p.Gln71Leu		Somatic					p.Q71L	NM_001080531.1	NP_001074000.1	WXS	Illumina GAIIx	Phase_I	C9J302	CD051_HUMAN			1	212	+			71						Missense_Mutation	SNP	ENST00000438731.1	37	c.212A>T	CCDS47140.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.310|9.310	1.055320|1.055320	0.19907|0.19907	.|.	.|.	ENSG00000237136|ENSG00000237136	ENST00000438731|ENST00000511965	.|.	.|.	.|.	5.53|5.53	-1.69|-1.69	0.08186|0.08186	.|.	.|.	.|.	.|.	.|.	T|T	0.19005|0.19005	0.0456|0.0456	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	B|.	0.16396|.	0.017|.	B|.	0.12156|.	0.007|.	T|T	0.24657|0.24657	-1.0154|-1.0154	8|5	0.87932|.	D|.	0|.	.|.	0.0666|0.0666	0.00018|0.00018	0.3293:0.1764:0.1849:0.3095|0.3293:0.1764:0.1849:0.3095	.|.	71|.	C9J302|.	CD051_HUMAN|.	L|C	71|31	.|.	ENSP00000391404:Q71L|.	Q|S	+|+	2|1	0|0	C4orf51|C4orf51	146821017|146821017	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.549000|0.549000	0.35272|0.35272	0.020000|0.020000	0.13466|0.13466	-0.192000|-0.192000	0.10432|0.10432	0.533000|0.533000	0.62120|0.62120	CAG|AGC		0.398	C4orf51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080531		6	33	6	33	---	---	---	---
WDR17	116966	broad.mit.edu	37	4	177032828	177032828	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr4:177032828G>A	ENST00000280190.4	+	3	325	c.169G>A	c.(169-171)Gcg>Acg	p.A57T	WDR17_ENST00000393643.2_Missense_Mutation_p.A33T|WDR17_ENST00000507824.2_Missense_Mutation_p.A57T|WDR17_ENST00000508596.1_Missense_Mutation_p.A33T			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	57										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TGCATATTGTGCGACCCTGGC	0.363																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(97-99)Gcg>Acg		WD repeat domain 17							116.0	106.0	110.0					4																	177032828		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177032828G>A	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.169G>A	4.37:g.177032828G>A	ENSP00000280190:p.Ala57Thr		Somatic				WDR17_ENST00000508596.1_Missense_Mutation_p.A33T|WDR17_ENST00000280190.4_Missense_Mutation_p.A57T|WDR17_ENST00000507824.2_Missense_Mutation_p.A57T	p.A33T	NM_170710.4	NP_733828.2	WXS	Illumina GAIIx	Phase_I	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	2	349	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	57					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.97G>A	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895306	0.72639	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000296524;ENST00000507824	T;T;T	0.64438	-0.06;-0.03;-0.1	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.70430	0.3223	L	0.27053	0.805	0.80722	D	1	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.81914	0.995;0.948;0.995	T	0.72571	-0.4253	10	0.52906	T	0.07	-16.3469	19.1629	0.93541	0.0:0.0:1.0:0.0	.	33;57;57	E7EQX0;E7ESC9;Q8IZU2	.;.;WDR17_HUMAN	T	33;33;57;33;57	ENSP00000422763:A33T;ENSP00000377258:A33T;ENSP00000280190:A57T	ENSP00000280190:A57T	A	+	1	0	WDR17	177269822	1.000000	0.71417	0.888000	0.34837	0.084000	0.17831	7.302000	0.78861	2.513000	0.84729	0.467000	0.42956	GCG		0.363	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			23	44	23	44	---	---	---	---
AGA	175	broad.mit.edu	37	4	178352895	178352895	+	Missense_Mutation	SNP	A	A	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr4:178352895A>T	ENST00000264595.2	-	9	1135	c.1008T>A	c.(1006-1008)aaT>aaA	p.N336K	AGA_ENST00000506853.1_5'Flank	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	336					protein deglycosylation (GO:0006517)|protein maturation (GO:0051604)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity (GO:0003948)|peptidase activity (GO:0008233)			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		CAGTTGGCTGATTTTTTTCGG	0.368																																						ENST00000264595.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16						c.(1006-1008)aaT>aaA		aspartylglucosaminidase							115.0	111.0	112.0					4																	178352895		2203	4300	6503	SO:0001583	missense	175				asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr4:178352895A>T	X55330	CCDS3829.1	4q34.3	2014-06-23			ENSG00000038002	ENSG00000038002	3.5.1.26		318	protein-coding gene	gene with protein product	"""glycosylasparaginase"", ""N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"""	613228					Standard	NM_000027		Approved	ASRG	uc003iuu.2	P20933	OTTHUMG00000160723	ENST00000264595.2:c.1008T>A	4.37:g.178352895A>T	ENSP00000264595:p.Asn336Lys		Somatic					p.N336K	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	WXS	Illumina GAIIx	Phase_I	P20933	ASPG_HUMAN		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)	9	1135	-		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)	336					B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Missense_Mutation	SNP	ENST00000264595.2	37	c.1008T>A	CCDS3829.1	.	.	.	.	.	.	.	.	.	.	A	4.307	0.056201	0.08291	.	.	ENSG00000038002	ENST00000264595	D	0.87029	-2.2	5.87	-2.17	0.07059	.	0.584736	0.21708	N	0.070315	T	0.79155	0.4398	M	0.62723	1.935	0.09310	N	1	B	0.06786	0.001	B	0.15052	0.012	T	0.61143	-0.7122	10	0.14252	T	0.57	-28.1707	6.2253	0.20703	0.4069:0.2464:0.3467:0.0	.	336	P20933	ASPG_HUMAN	K	336	ENSP00000264595:N336K	ENSP00000264595:N336K	N	-	3	2	AGA	178589889	0.000000	0.05858	0.000000	0.03702	0.108000	0.19459	0.451000	0.21779	-0.252000	0.09528	-0.912000	0.02778	AAT		0.368	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361916.1	NM_000027		3	52	3	52	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	90078963	90078963	+	Missense_Mutation	SNP	C	C	G			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr5:90078963C>G	ENST00000405460.2	+	66	13350	c.13254C>G	c.(13252-13254)atC>atG	p.I4418M	GPR98_ENST00000425867.2_Missense_Mutation_p.I79M	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4418	Calx-beta 30. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGGGCTGATCATGATCCCAG	0.448																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(13252-13254)atC>atG		G protein-coupled receptor 98							200.0	195.0	197.0					5																	90078963		2038	4198	6236	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90078963C>G	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.13254C>G	5.37:g.90078963C>G	ENSP00000384582:p.Ile4418Met		Somatic				GPR98_ENST00000425867.2_Missense_Mutation_p.I79M	p.I4418M	NM_032119.3	NP_115495.3	WXS	Illumina GAIIx	Phase_I	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	66	13350	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4418					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.13254C>G	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.705909	0.30232	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.32023	1.47;1.47	6.17	1.46	0.22682	Na-Ca exchanger/integrin-beta4 (2);	0.605223	0.18225	N	0.147753	T	0.27731	0.0682	L	0.45137	1.4	0.09310	N	1	B;B;B	0.33826	0.317;0.427;0.141	B;B;B	0.41174	0.349;0.34;0.201	T	0.21245	-1.0251	10	0.62326	D	0.03	.	5.6594	0.17660	0.1187:0.5026:0.0:0.3787	.	79;4418;79	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	M	4418;4418;79	ENSP00000384582:I4418M;ENSP00000392618:I79M	ENSP00000296619:I4418M	I	+	3	3	GPR98	90114719	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-0.203000	0.09438	-0.016000	0.14127	0.655000	0.94253	ATC		0.448	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		63	112	63	112	---	---	---	---
COL10A1	1300	broad.mit.edu	37	6	116442816	116442816	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr6:116442816G>A	ENST00000327673.4	-	2	870	c.463C>T	c.(463-465)Cca>Tca	p.P155S	NT5DC1_ENST00000319550.4_Intron|AL121963.1_ENST00000430695.1_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.P155S			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	155	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	cell cortex (GO:0005938)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GGTTTTCCTGGCACAGAAATT	0.592																																						ENST00000327673.4																			0				central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13						c.(463-465)Cca>Tca		collagen, type X, alpha 1							34.0	37.0	36.0					6																	116442816		2203	4300	6503	SO:0001583	missense	1300				skeletal system development	collagen	metal ion binding	g.chr6:116442816G>A		CCDS5105.1	6q21-q22	2013-01-16	2008-07-29		ENSG00000123500	ENSG00000123500		"""Collagens"""	2185	protein-coding gene	gene with protein product	"""Schmid metaphyseal chondrodysplasia"""	120110				2037056	Standard	XM_006715332		Approved		uc003pwm.3	Q03692	OTTHUMG00000015426	ENST00000327673.4:c.463C>T	6.37:g.116442816G>A	ENSP00000327368:p.Pro155Ser		Somatic				NT5DC1_ENST00000319550.4_Intron|AL121963.1_ENST00000430695.1_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.P155S	p.P155S			WXS	Illumina GAIIx	Phase_I	Q03692	COAA1_HUMAN		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)	2	870	-		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)	155			Triple-helical region.		A1L4P2	Missense_Mutation	SNP	ENST00000327673.4	37	c.463C>T	CCDS5105.1	.	.	.	.	.	.	.	.	.	.	A	3.573	-0.087179	0.07097	.	.	ENSG00000123500	ENST00000243222;ENST00000327673;ENST00000452729	D;D;D	0.96587	-4.06;-4.06;-3.64	5.55	-11.1	0.00147	.	0.928546	0.09133	N	0.844075	D	0.87418	0.6172	M	0.68317	2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.67133	-0.5747	10	0.40728	T	0.16	.	11.2582	0.49067	0.0934:0.2044:0.5736:0.1286	.	155	Q03692	COAA1_HUMAN	S	155	ENSP00000243222:P155S;ENSP00000327368:P155S;ENSP00000411285:P155S	ENSP00000243222:P155S	P	-	1	0	COL10A1	116549509	0.000000	0.05858	0.007000	0.13788	0.649000	0.38597	-3.179000	0.00569	-3.162000	0.00227	-1.180000	0.01717	CCA		0.592	COL10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041926.1			17	16	17	16	---	---	---	---
XPO7	23039	broad.mit.edu	37	8	21833903	21833903	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr8:21833903C>T	ENST00000252512.9	+	7	734	c.634C>T	c.(634-636)Cag>Tag	p.Q212*	XPO7_ENST00000434536.1_Nonsense_Mutation_p.Q221*|XPO7_ENST00000433566.4_Nonsense_Mutation_p.Q213*|XPO7_ENST00000518017.1_3'UTR	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	212					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TGATGAAAGTCAGCATGGCTT	0.458																																						ENST00000434536.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(661-663)Cag>Tag		exportin 7							208.0	204.0	205.0					8																	21833903		1952	4179	6131	SO:0001587	stop_gained	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21833903C>T	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.634C>T	8.37:g.21833903C>T	ENSP00000252512:p.Gln212*		Somatic				XPO7_ENST00000518017.1_3'UTR|XPO7_ENST00000433566.4_Nonsense_Mutation_p.Q213*|XPO7_ENST00000252512.9_Nonsense_Mutation_p.Q212*	p.Q221*			WXS	Illumina GAIIx	Phase_I	Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	7	763	+			212					O94846|Q6PJK9|Q8NEK7	Nonsense_Mutation	SNP	ENST00000252512.9	37	c.661C>T	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	C	36	5.946529	0.97134	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-12.1013	19.6226	0.95665	0.0:1.0:0.0:0.0	.	.	.	.	X	221;212;213	.	ENSP00000252512:Q212X	Q	+	1	0	XPO7	21889849	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.796000	0.85898	2.741000	0.93983	0.655000	0.94253	CAG		0.458	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		5	106	5	106	---	---	---	---
XPO7	23039	broad.mit.edu	37	8	21842352	21842352	+	Splice_Site	SNP	T	T	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr8:21842352T>A	ENST00000252512.9	+	12	1571		c.e12+2		XPO7_ENST00000434536.1_Splice_Site|XPO7_ENST00000433566.4_Splice_Site	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7						mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TGCAGGAGGGTGAGTGTGCAG	0.567																																						ENST00000434536.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.e12+2		exportin 7							65.0	69.0	67.0					8																	21842352		2152	4267	6419	SO:0001630	splice_region_variant	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21842352T>A	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.1471+2T>A	8.37:g.21842352T>A			Somatic				XPO7_ENST00000433566.4_Splice_Site|XPO7_ENST00000252512.9_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	12	1600	+								O94846|Q6PJK9|Q8NEK7	Splice_Site	SNP	ENST00000252512.9	37		CCDS47818.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.684672	0.88639	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1078	0.72334	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	XPO7	21898298	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.993000	0.88291	2.052000	0.61016	0.477000	0.44152	.		0.567	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024	Intron	18	21	18	21	---	---	---	---
NFX1	4799	broad.mit.edu	37	9	33313652	33313653	+	Splice_Site	DNP	GC	GC	TT	rs557655235	byFrequency	TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr9:33313652_33313653GC>TT	ENST00000379540.3	+	7	1511_1512	c.1449_1450GC>TT	c.(1447-1452)agGCac>agTTac	p.483_484RH>SY	NFX1_ENST00000379521.4_Splice_Site_p.483_484RH>SY|NFX1_ENST00000318524.6_Splice_Site_p.483_484RH>SY	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	483					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		GTCTTTACAGGCACACAGTTCG	0.48																																						ENST00000379540.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1447-1449)agG>agT|c.(1450-1452)Cac>Tac		nuclear transcription factor, X-box binding 1																																				SO:0001630	splice_region_variant	4799				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:33313652G>T|g.chr9:33313653C>T	U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	Exception_encountered	9.37:g.33313652_33313653delinsTT			Somatic				NFX1_ENST00000318524.6_Splice_Site_p.R483S|NFX1_ENST00000379521.4_Splice_Site_p.R483S|NFX1_ENST00000318524.6_Splice_Site_p.H484Y|NFX1_ENST00000379521.4_Splice_Site_p.H484Y	p.R483S|p.H484Y	NM_002504.4	NP_002495.2	WXS	Illumina GAIIx	Phase_I	Q12986	NFX1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)	7	1511|1512	+			483|484					A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Splice_Site	SNP	ENST00000379540.3	37	c.1449G>T|c.1450C>T	CCDS6538.1																																																																																				0.480	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1		Missense_Mutation	32|33	56|57	32	56	---	---	---	---
VCP	7415	broad.mit.edu	37	9	35062992	35062993	+	Missense_Mutation	DNP	AA	AA	GC			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr9:35062992_35062993AA>GC	ENST00000358901.6	-	7	1688_1689	c.793_794TT>GC	c.(793-795)TTc>GCc	p.F265A		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	265					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CAAGAAGAAGAAGGCTCCAGTC	0.465																																						ENST00000358901.6																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(793-795)tTc>tCc|c.(793-795)Ttc>Gtc		valosin containing protein																																				SO:0001583	missense	7415				activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	g.chr9:35062992A>G|g.chr9:35062993A>C	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.793_794delinsGC	9.37:g.35062992_35062993delinsGC	ENSP00000351777:p.Phe265Ala		Somatic					p.F265S|p.F265V	NM_007126.3	NP_009057.1	WXS	Illumina GAIIx	Phase_I	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	1689|1688	-			265					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	ENST00000358901.6	37	c.794T>C|c.793T>G	CCDS6573.1																																																																																				0.465	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		29|27	86	27	86	---	---	---	---
LINC00264	645528	broad.mit.edu	37	10	26880327	26880327	+	lincRNA	SNP	T	T	G			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr10:26880327T>G	ENST00000412114.1	+	0	562					NR_026793.1				long intergenic non-protein coding RNA 264																		CCCAAACACATGCTGAAACAT	0.502																																						ENST00000412114.1																			0																																																			645528							g.chr10:26880327T>G			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880327T>G			Somatic						NR_026793.1		WXS	Illumina GAIIx	Phase_I					0	562	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.502	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		12	20	12	20	---	---	---	---
MTG1	92170	broad.mit.edu	37	10	135215702	135215702	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr10:135215702C>T	ENST00000317502.6	+	8	673	c.623C>T	c.(622-624)gCt>gTt	p.A208V	MTG1_ENST00000477902.2_Missense_Mutation_p.A167V|RP11-108K14.8_ENST00000468317.2_Missense_Mutation_p.A213V	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1	208	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		GGCGTGCTGGCTCCTCGGATT	0.687																																						ENST00000468317.2																			0											c.(637-639)gCt>gTt									92.0	94.0	93.0					10																	135215702		2203	4300	6503	SO:0001583	missense	92170							g.chr10:135215702C>T		CCDS31320.1	10q26.3	2013-05-24	2013-05-24	2006-01-09	ENSG00000148824	ENSG00000148824			32159	protein-coding gene	gene with protein product			"""GTP-binding protein 7"", ""GTP-binding protein 7 (putative)"", ""mitochondrial GTPase 1 homolog (S. cerevisiae)"""	GTPBP7		12808030, 23396448	Standard	NM_138384		Approved		uc001lnd.3	Q9BT17	OTTHUMG00000166564	ENST00000317502.6:c.623C>T	10.37:g.135215702C>T	ENSP00000323047:p.Ala208Val		Somatic				MTG1_ENST00000477902.2_Missense_Mutation_p.A167V|MTG1_ENST00000317502.6_Missense_Mutation_p.A208V	p.A213V			WXS	Illumina GAIIx	Phase_I					9	893	+								Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	Missense_Mutation	SNP	ENST00000317502.6	37	c.638C>T	CCDS31320.1	.	.	.	.	.	.	.	.	.	.	c	14.25	2.478404	0.44044	.	.	ENSG00000254536;ENSG00000148824;ENSG00000148824	ENST00000468317;ENST00000317502;ENST00000432508	T;T;T	0.17691	2.26;2.26;2.54	5.59	3.67	0.42095	GTP-binding domain, HSR1-related (1);	0.172756	0.40554	N	0.001078	T	0.12178	0.0296	N	0.16862	0.45	0.31065	N	0.713673	B;P	0.37276	0.024;0.589	B;B	0.39771	0.037;0.309	T	0.06734	-1.0810	10	0.29301	T	0.29	-1.0E-4	12.6206	0.56601	0.3019:0.6981:0.0:0.0	.	157;208	E7EVK2;Q9BT17	.;MTG1_HUMAN	V	213;208;157	ENSP00000436767:A213V;ENSP00000323047:A208V;ENSP00000393480:A157V	ENSP00000323047:A208V	A	+	2	0	AL360181.1;MTG1	135065692	1.000000	0.71417	0.971000	0.41717	0.665000	0.39181	3.596000	0.54024	0.668000	0.31126	0.446000	0.29264	GCT		0.687	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051166.1	NM_138384		60	90	60	90	---	---	---	---
SLC17A6	57084	broad.mit.edu	37	11	22380963	22380963	+	Missense_Mutation	SNP	T	T	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr11:22380963T>A	ENST00000263160.3	+	4	900	c.463T>A	c.(463-465)Ttc>Atc	p.F155I	CTD-2140G10.4_ENST00000534543.1_RNA	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	155					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TTTCAGGGTTTTCGGAGCTGC	0.358																																						ENST00000263160.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						c.(463-465)Ttc>Atc		solute carrier family 17 (vesicular glutamate transporter), member 6							107.0	98.0	101.0					11																	22380963		2203	4300	6503	SO:0001583	missense	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22380963T>A	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.463T>A	11.37:g.22380963T>A	ENSP00000263160:p.Phe155Ile		Somatic					p.F155I	NM_020346.2	NP_065079.1	WXS	Illumina GAIIx	Phase_I	Q9P2U8	VGLU2_HUMAN			4	900	+			155					A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	c.463T>A	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	T	30	5.050669	0.93740	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.58358	0.34	5.29	5.29	0.74685	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.68805	0.3041	L	0.58354	1.805	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.70898	-0.4747	10	0.56958	D	0.05	.	15.5156	0.75822	0.0:0.0:0.0:1.0	.	155	Q9P2U8	VGLU2_HUMAN	I	155;43	ENSP00000263160:F155I	ENSP00000263160:F155I	F	+	1	0	SLC17A6	22337539	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	7.698000	0.84413	2.131000	0.65755	0.477000	0.44152	TTC		0.358	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		13	25	13	25	---	---	---	---
ATF7	11016	broad.mit.edu	37	12	53927005	53927005	+	Missense_Mutation	SNP	G	G	C			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr12:53927005G>C	ENST00000548446.2	-	7	744	c.632C>G	c.(631-633)gCt>gGt	p.A211G	ATF7_ENST00000328463.7_Missense_Mutation_p.A211G|ATF7_ENST00000456903.4_Missense_Mutation_p.A200G|ATF7_ENST00000420353.2_Missense_Mutation_p.A200G|RP11-793H13.10_ENST00000591834.1_Missense_Mutation_p.A200G|ATF7_ENST00000415113.1_Missense_Mutation_p.A179G			P17544	ATF7_HUMAN	activating transcription factor 7	211	Transactivation domain.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9					Pseudoephedrine(DB00852)	CTGTCCATTAGCAAGATGCAT	0.512																																						ENST00000420353.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						c.(598-600)gCt>gGt		activating transcription factor 7							73.0	73.0	73.0					12																	53927005		1987	4159	6146	SO:0001583	missense	11016				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:53927005G>C	X52943	CCDS44906.1, CCDS58238.1	12q13	2013-01-10				ENSG00000170653		"""basic leucine zipper proteins"""	792	protein-coding gene	gene with protein product		606371				1694576, 11278933	Standard	NM_006856		Approved	ATFA	uc001sdz.3	P17544	OTTHUMG00000169776	ENST00000548446.2:c.632C>G	12.37:g.53927005G>C	ENSP00000449938:p.Ala211Gly		Somatic				RP11-793H13.10_ENST00000591834.1_Missense_Mutation_p.A200G|ATF7_ENST00000415113.1_Missense_Mutation_p.A179G|ATF7_ENST00000456903.4_Missense_Mutation_p.A200G|ATF7_ENST00000328463.7_Missense_Mutation_p.A211G|ATF7_ENST00000548446.2_Missense_Mutation_p.A211G	p.A200G	NM_006856.2	NP_006847.1	WXS	Illumina GAIIx	Phase_I	P17544	ATF7_HUMAN			7	748	-			211			Transactivation domain.		A5D6Y4|B2RMP1|B4DQL4|Q13814|Q8IVR8|Q9UD83	Missense_Mutation	SNP	ENST00000548446.2	37	c.599C>G		.	.	.	.	.	.	.	.	.	.	G	11.42	1.632451	0.29068	.	.	ENSG00000170653	ENST00000548446;ENST00000328463;ENST00000415113;ENST00000420353;ENST00000456903	T;T;T;T;T	0.45276	0.91;0.91;0.9;0.91;0.91	4.87	4.87	0.63330	.	0.162448	0.56097	D	0.000035	T	0.19765	0.0475	N	0.08118	0	0.32385	N	0.554004	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.002;0.0;0.003	T	0.15407	-1.0438	10	0.21014	T	0.42	-18.2065	7.1224	0.25453	0.0904:0.1752:0.7344:0.0	.	179;200;211	P17544-2;B2RMP1;P17544	.;.;ATF7_HUMAN	G	211;211;179;200;200	ENSP00000449938:A211G;ENSP00000329212:A211G;ENSP00000404880:A179G;ENSP00000399465:A200G;ENSP00000387406:A200G	ENSP00000329212:A211G	A	-	2	0	ATF7	52213272	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.510000	0.67018	2.698000	0.92095	0.561000	0.74099	GCT		0.512	ATF7-007	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000406302.2	NM_001130059		20	31	20	31	---	---	---	---
PCDH17	27253	broad.mit.edu	37	13	58299039	58299039	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr13:58299039G>A	ENST00000377918.3	+	4	3117	c.3091G>A	c.(3091-3093)Gag>Aag	p.E1031K		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1031					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TCTCCTCCAAGAGGTCCCCTC	0.502																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(3091-3093)Gag>Aag		protocadherin 17							88.0	89.0	89.0					13																	58299039		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58299039G>A	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.3091G>A	13.37:g.58299039G>A	ENSP00000367151:p.Glu1031Lys		Somatic					p.E1031K	NM_001040429.2	NP_001035519.1	WXS	Illumina GAIIx	Phase_I	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	4	3117	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	1031					A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.3091G>A	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.786408	0.70337	.	.	ENSG00000118946	ENST00000377918	T	0.51574	0.7	6.07	6.07	0.98685	.	0.051269	0.85682	D	0.000000	T	0.43809	0.1264	L	0.43152	1.355	0.58432	D	0.999999	B	0.31459	0.324	B	0.28784	0.094	T	0.17715	-1.0360	9	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	1031	O14917	PCD17_HUMAN	K	1031	ENSP00000367151:E1031K	.	E	+	1	0	PCDH17	57197040	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.885000	0.99019	0.655000	0.94253	GAG		0.502	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		4	87	4	87	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25465676	25465676	+	RNA	SNP	A	A	G			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr15:25465676A>G	ENST00000424208.1	+	0	3039				SNHG14_ENST00000365067.1_RNA|SNHG14_ENST00000453082.2_RNA|SNORD115-28_ENST00000363931.1_RNA|SNORD115-29_ENST00000362834.1_RNA|SNORD115-27_ENST00000364430.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		ATTGTCCTGAAAAGAGGTGAT	0.502																																						ENST00000424208.1																			0																																																			104472715							g.chr15:25465676A>G			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25465676A>G			Somatic				SNORD115-27_ENST00000364430.1_RNA|SNHG14_ENST00000453082.2_RNA		NR_003305.1		WXS	Illumina GAIIx	Phase_I					0	3039	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.502	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			49	109	49	109	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72845538	72845538	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr16:72845538G>A	ENST00000268489.5	-	7	4474	c.3802C>T	c.(3802-3804)Cag>Tag	p.Q1268*	RP5-991G20.2_ENST00000558618.1_RNA|ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.Q354*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1268					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGGTGCAGCTGGAGGTGGATC	0.607																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(3802-3804)Cag>Tag		zinc finger homeobox 3							85.0	74.0	78.0					16																	72845538		2198	4300	6498	SO:0001587	stop_gained	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72845538G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.3802C>T	16.37:g.72845538G>A	ENSP00000268489:p.Gln1268*		Somatic				ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.Q354*	p.Q1268*	NM_006885.3	NP_008816.3	WXS	Illumina GAIIx	Phase_I	Q15911	ZFHX3_HUMAN			7	4474	-		Ovarian(137;0.13)	1268					D3DWS8|O15101|Q13719	Nonsense_Mutation	SNP	ENST00000268489.5	37	c.3802C>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	48	14.483053	0.99797	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	.	.	.	5.67	5.67	0.87782	.	0.000000	0.47852	D	0.000219	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.7222	0.96147	0.0:0.0:1.0:0.0	.	.	.	.	X	1268;354	.	ENSP00000268489:Q1268X	Q	-	1	0	ZFHX3	71403039	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.828000	0.97474	0.655000	0.94253	CAG		0.607	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		12	19	12	19	---	---	---	---
ZNF317	57693	broad.mit.edu	37	19	9270907	9270907	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr19:9270907C>T	ENST00000247956.6	+	7	891	c.586C>T	c.(586-588)Cgc>Tgc	p.R196C	ZNF317_ENST00000360385.3_Missense_Mutation_p.R164C	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	196					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						GCCCTATCACCGCCGCGACTA	0.537																																						ENST00000247956.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						c.(586-588)Cgc>Tgc		zinc finger protein 317							71.0	56.0	61.0					19																	9270907		2203	4300	6503	SO:0001583	missense	57693				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9270907C>T	AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"""Zinc fingers, C2H2-type"", ""-"""	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.586C>T	19.37:g.9270907C>T	ENSP00000247956:p.Arg196Cys		Somatic				ZNF317_ENST00000360385.3_Missense_Mutation_p.R164C	p.R196C	NM_020933.4	NP_065984.3	WXS	Illumina GAIIx	Phase_I	Q96PQ6	ZN317_HUMAN			7	891	+			196					Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Missense_Mutation	SNP	ENST00000247956.6	37	c.586C>T	CCDS12210.1	.	.	.	.	.	.	.	.	.	.	C	8.286	0.816611	0.16607	.	.	ENSG00000130803	ENST00000247956;ENST00000360385	T;T	0.04083	3.71;3.71	3.34	2.3	0.28687	.	0.347798	0.21283	N	0.077105	T	0.00845	0.0028	N	0.00112	-2.095	0.39073	D	0.960761	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39860	-0.9593	10	0.02654	T	1	-16.5548	5.6319	0.17516	0.0:0.7497:0.0:0.2503	.	164;196	Q96PQ6-2;Q96PQ6	.;ZN317_HUMAN	C	196;164	ENSP00000247956:R196C;ENSP00000353554:R164C	ENSP00000247956:R196C	R	+	1	0	ZNF317	9131907	0.249000	0.23941	0.052000	0.19188	0.930000	0.56654	1.360000	0.34125	0.977000	0.38444	0.591000	0.81541	CGC		0.537	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	NM_020933		9	13	9	13	---	---	---	---
BTG1	694	broad.mit.edu	37	12	92537884	92537884	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr12:92537884delT	ENST00000256015.3	-	2	849	c.488delA	c.(487-489)aacfs	p.N163fs	RP11-796E2.4_ENST00000501008.2_RNA|C12orf79_ENST00000549802.1_5'Flank|C12orf79_ENST00000551563.2_5'Flank|C12orf79_ENST00000546975.1_5'Flank|RP11-796E2.4_ENST00000499685.2_RNA|C12orf79_ENST00000551843.1_5'Flank	NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	163					cell migration (GO:0016477)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of myoblast differentiation (GO:0045663)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|transcription cofactor activity (GO:0003712)			haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				CATATTGTAGTTTTTGGAAGG	0.443			T	MYC	BCLL						OREG0022024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000256015.3				Dom	yes		12	12q22	694	T	"""B-cell translocation gene 1, anti-proliferative"""			L	MYC		BCLL		0				haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16						c.(487-489)aacfs		B-cell translocation gene 1, anti-proliferative							79.0	72.0	74.0					12																	92537884		2203	4295	6498	SO:0001589	frameshift_variant	694				cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|transcription cofactor activity	g.chr12:92537884delT		CCDS9043.1	12q21.33	2012-10-02			ENSG00000133639	ENSG00000133639			1130	protein-coding gene	gene with protein product		109580				15033446	Standard	NM_001731		Approved		uc001tby.3	P62324	OTTHUMG00000170092	ENST00000256015.3:c.488delA	12.37:g.92537884delT	ENSP00000256015:p.Asn163fs		Somatic	OREG0022024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1291		p.N163fs	NM_001731.2	NP_001722.1	WXS	Illumina GAIIx	Phase_I	P62324	BTG1_HUMAN			2	849	-		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)	163					P31607	Frame_Shift_Del	DEL	ENST00000256015.3	37	c.488delA	CCDS9043.1																																																																																				0.443	BTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407227.1			33	69	33	69	---	---	---	---
