#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
COL25A1	84570	broad.mit.edu	37	4	109767343	109767343	+	Silent	SNP	G	G	A			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr4:109767343G>A	ENST00000399132.1	-	28	1997	c.1467C>T	c.(1465-1467)gaC>gaT	p.D489D	COL25A1_ENST00000399127.1_Silent_p.D462D|COL25A1_ENST00000399126.1_Silent_p.D489D	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TCATACCTGGGTCCCCCATGT	0.388																																						ENST00000399132.1																			0				NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49						c.(1465-1467)gaC>gaT		collagen, type XXV, alpha 1							123.0	119.0	120.0					4																	109767343		1840	4091	5931	SO:0001819	synonymous_variant	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109767343G>A	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1467C>T	4.37:g.109767343G>A						COL25A1_ENST00000399127.1_Silent_p.D462D|COL25A1_ENST00000399126.1_Silent_p.D489D	p.D489D	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	28	1997	-		Hepatocellular(203;0.217)	489			Collagen-like 6.			Silent	SNP	ENST00000399132.1	37	c.1467C>T	CCDS43258.1																																																																																				0.388	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		23	69	0	0	0	1	0	23	69				
MTUS2	23281	broad.mit.edu	37	13	29599579	29599579	+	Silent	SNP	C	C	T	rs376465256		TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr13:29599579C>T	ENST00000431530.3	+	1	832	c.774C>T	c.(772-774)acC>acT	p.T258T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	248						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AACCATCTACCTCAGAAAGCA	0.557																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(772-774)acC>acT		microtubule associated tumor suppressor candidate 2		C		0,4398		0,0,2199	43.0	44.0	44.0		774	5.5	1.0	13		44	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	MTUS2	NM_001033602.2		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		258/1380	29599579	1,12993	2199	4298	6497	SO:0001819	synonymous_variant	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599579C>T	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.774C>T	13.37:g.29599579C>T							p.T258T	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	832	+			248					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000431530.3	37	c.774C>T	CCDS45022.1																																																																																				0.557	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		5	23	0	0	0	1	0	5	23				
GAB2	9846	broad.mit.edu	37	11	77991848	77991848	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr11:77991848G>A	ENST00000361507.4	-	2	260	c.175C>T	c.(175-177)Cgg>Tgg	p.R59W	GAB2_ENST00000526030.1_5'UTR|GAB2_ENST00000340149.2_Missense_Mutation_p.R21W	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	59	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TTGATGATCCGCAGAGGCTTC	0.502																																						ENST00000361507.4																		INTS4/GAB2(2)	0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24						c.(175-177)Cgg>Tgg		GRB2-associated binding protein 2							127.0	119.0	122.0					11																	77991848		2200	4292	6492	SO:0001583	missense	9846				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr11:77991848G>A	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.175C>T	11.37:g.77991848G>A	ENSP00000354952:p.Arg59Trp					GAB2_ENST00000526030.1_5'UTR|GAB2_ENST00000340149.2_Missense_Mutation_p.R21W	p.R59W	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		2	260	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		59			PH.		A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	ENST00000361507.4	37	c.175C>T	CCDS8259.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217402	0.79352	.	.	ENSG00000033327	ENST00000340149;ENST00000361507;ENST00000528886;ENST00000530915	T;T;T;T	0.76448	-1.02;2.66;-1.02;-1.02	5.37	3.43	0.39272	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	U	0.000003	D	0.88829	0.6543	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90074	0.4165	10	0.72032	D	0.01	-11.5112	14.4277	0.67227	0.0:0.0:0.7171:0.2829	.	59	Q9UQC2	GAB2_HUMAN	W	21;59;21;21	ENSP00000343959:R21W;ENSP00000354952:R59W;ENSP00000433762:R21W;ENSP00000431868:R21W	ENSP00000343959:R21W	R	-	1	2	GAB2	77669496	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.942000	0.56614	0.680000	0.31366	0.563000	0.77884	CGG		0.502	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		4	111	0	0	0	1	0	4	111				
PTH2R	5746	broad.mit.edu	37	2	209307106	209307106	+	Silent	SNP	C	C	T			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr2:209307106C>T	ENST00000272847.2	+	5	642	c.429C>T	c.(427-429)cgC>cgT	p.R143R	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	143					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	TCTTTGAACGCCTCTATGTAA	0.398																																						ENST00000272847.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(427-429)cgC>cgT		parathyroid hormone 2 receptor							375.0	324.0	341.0					2																	209307106		2203	4300	6503	SO:0001819	synonymous_variant	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209307106C>T	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.429C>T	2.37:g.209307106C>T						PTH2R_ENST00000413482.1_3'UTR	p.R143R	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	5	642	+			143					Q8N429	Silent	SNP	ENST00000272847.2	37	c.429C>T	CCDS2383.1																																																																																				0.398	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		18	116	0	0	0	1	0	18	116				
TUBB3	10381	broad.mit.edu	37	16	90001622	90001622	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr16:90001622G>A	ENST00000315491.7	+	4	886	c.763G>A	c.(763-765)Gtc>Atc	p.V255I	TUBB3_ENST00000554444.1_Missense_Mutation_p.V183I|TUBB3_ENST00000304984.5_Missense_Mutation_p.V183I|TUBB3_ENST00000556922.1_Missense_Mutation_p.V602I|TUBB3_ENST00000555576.1_Intron	NM_006086.3	NP_006077.2	Q13509	TBB3_HUMAN	tubulin, beta 3 class III	255					'de novo' posttranslational protein folding (GO:0051084)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)	Ixabepilone(DB04845)	CAAGCTGGCCGTCAACATGGT	0.682																																						ENST00000304984.5																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(547-549)Gtc>Atc		tubulin, beta 3 class III							43.0	43.0	43.0					16																	90001622		2198	4299	6497	SO:0001583	missense	10381				'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr16:90001622G>A	BC000748	CCDS10988.1, CCDS56012.1	16q24.3	2014-02-04	2011-10-10		ENSG00000198211	ENSG00000198211		"""Tubulins"""	20772	protein-coding gene	gene with protein product	"""class III beta-tubulin"""	602661	"""tubulin, beta 3"", ""fibrosis of extraocular muscles, congenital, 3"""	FEOM3		9473684, 8098743, 20074521	Standard	NM_006086		Approved	beta-4, CFEOM3, CFEOM3A	uc002fph.2	Q13509	OTTHUMG00000138985	ENST00000315491.7:c.763G>A	16.37:g.90001622G>A	ENSP00000320295:p.Val255Ile					TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000556922.1_Missense_Mutation_p.V602I|TUBB3_ENST00000315491.7_Missense_Mutation_p.V255I|TUBB3_ENST00000554444.1_Missense_Mutation_p.V183I	p.V183I			Q13509	TBB3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0273)	3	2842	+		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)	255					A8K854|Q9BTZ0|Q9BW10	Missense_Mutation	SNP	ENST00000315491.7	37	c.547G>A	CCDS10988.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754462	0.49362	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258947;ENSG00000198211;ENSG00000198211;ENSG00000198211	ENST00000556922;ENST00000555399;ENST00000304984;ENST00000555810;ENST00000554444;ENST00000315491	D;D;T;D;D	0.84516	-1.86;-1.86;-0.92;-1.86;-1.86	4.67	4.67	0.58626	Tubulin/FtsZ, 2-layer sandwich domain (1);Tubulin/FtsZ, GTPase domain (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.51477	D	0.000090	D	0.90109	0.6910	M	0.88704	2.975	0.51767	D	0.999937	D;P	0.54772	0.968;0.884	P;P	0.48654	0.585;0.499	D	0.92048	0.5646	9	.	.	.	.	17.5189	0.87782	0.0:0.0:1.0:0.0	.	255;255	Q13509;B2RBD5	TBB3_HUMAN;.	I	602;255;183;183;183;255	ENSP00000451560:V602I;ENSP00000302777:V183I;ENSP00000450538:V183I;ENSP00000451617:V183I;ENSP00000320295:V255I	.	V	+	1	0	RP11-566K11.2;TUBB3	88529123	1.000000	0.71417	0.897000	0.35233	0.397000	0.30659	9.541000	0.98083	2.316000	0.78162	0.407000	0.27541	GTC		0.682	TUBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272874.1	NM_006086		4	69	0	0	0	1	0	4	69				
DPPA4	55211	broad.mit.edu	37	3	109050826	109050826	+	Silent	SNP	C	C	T			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr3:109050826C>T	ENST00000335658.6	-	3	285	c.231G>A	c.(229-231)aaG>aaA	p.K77K	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	77					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TTGGTATCTTCTTCTGAGGTC	0.463																																						ENST00000335658.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(229-231)aaG>aaA		developmental pluripotency associated 4							188.0	185.0	186.0					3																	109050826		2203	4300	6503	SO:0001819	synonymous_variant	55211					nucleus	protein binding	g.chr3:109050826C>T	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.231G>A	3.37:g.109050826C>T						DPPA4_ENST00000478791.1_5'UTR	p.K77K	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN			3	285	-			77					A8K4M7|Q9H9N5|Q9NVI6	Silent	SNP	ENST00000335658.6	37	c.231G>A	CCDS33814.1																																																																																				0.463	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1	NM_018189		7	134	0	0	0	1	0	7	134				
LCT	3938	broad.mit.edu	37	2	136558282	136558282	+	Silent	SNP	G	G	A	rs573401319	byFrequency	TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr2:136558282G>A	ENST00000264162.2	-	12	4771	c.4761C>T	c.(4759-4761)cgC>cgT	p.R1587R		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1587	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CTTGACTGGCGCGGTACACAT	0.547													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		19917	0.0		0.0	False		,,,				2504	0.0					ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(4759-4761)cgC>cgT		lactase							102.0	93.0	96.0					2																	136558282		2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136558282G>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.4761C>T	2.37:g.136558282G>A							p.R1587R	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	12	4771	-			1587			4 X approximate repeats.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.4761C>T	CCDS2178.1																																																																																				0.547	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		11	55	0	0	0	1	0	11	55				
PCDHB2	56133	broad.mit.edu	37	5	140474539	140474539	+	Silent	SNP	G	G	T			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr5:140474539G>T	ENST00000194155.4	+	1	313	c.165G>T	c.(163-165)ggG>ggT	p.G55G		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	55	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGACCTGGGGCTGGAGATAG	0.512																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(163-165)ggG>ggT									59.0	66.0	63.0					5																	140474539		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140474539G>T	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.165G>T	5.37:g.140474539G>T							p.G55G	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	313	+			55			Cadherin 1.		Q4KMU1	Silent	SNP	ENST00000194155.4	37	c.165G>T	CCDS4244.1																																																																																				0.512	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		4	57	1	0	0.00024832	1	0.00024832	4	57				
KPRP	448834	broad.mit.edu	37	1	152733118	152733118	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr1:152733118C>T	ENST00000606109.1	+	1	1082	c.1054C>T	c.(1054-1056)Cgc>Tgc	p.R352C	KPRP_ENST00000368773.1_Missense_Mutation_p.R352C			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	352	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCCATCAGACGCCGCTCCCA	0.652																																						ENST00000368773.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1054-1056)Cgc>Tgc		keratinocyte proline-rich protein							45.0	48.0	47.0					1																	152733118		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152733118C>T	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1054C>T	1.37:g.152733118C>T	ENSP00000475216:p.Arg352Cys					KPRP_ENST00000606109.1_Missense_Mutation_p.R352C	p.R352C	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1112	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		352			Pro-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.1054C>T	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.740417	0.49045	.	.	ENSG00000203786	ENST00000368773	T	0.13420	2.59	5.3	4.38	0.52667	.	0.142018	0.32769	N	0.005675	T	0.09774	0.0240	L	0.27053	0.805	0.33555	D	0.596616	D	0.69078	0.997	P	0.56474	0.799	T	0.04551	-1.0943	10	0.66056	D	0.02	-13.5765	11.0822	0.48066	0.0:0.7053:0.2947:0.0	.	352	Q5T749	KPRP_HUMAN	C	352	ENSP00000357762:R352C	ENSP00000357762:R352C	R	+	1	0	KPRP	150999742	0.483000	0.25956	0.730000	0.30809	0.644000	0.38419	0.422000	0.21296	1.336000	0.45506	0.462000	0.41574	CGC		0.652	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		6	61	0	0	0	1	0	6	61				
ADAMTS20	80070	broad.mit.edu	37	12	43944936	43944936	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr12:43944936G>A	ENST00000389420.3	-	2	228	c.229C>T	c.(229-231)Cga>Tga	p.R77*	ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.R77*	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	77					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TAGTGGGTTCGGAACGGCATG	0.617																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(229-231)Cga>Tga		ADAM metallopeptidase with thrombospondin type 1 motif, 20							110.0	105.0	106.0					12																	43944936		2203	4300	6503	SO:0001587	stop_gained	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43944936G>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.229C>T	12.37:g.43944936G>A	ENSP00000374071:p.Arg77*					ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.R77*	p.R77*	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	2	228	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	77					A6NNC9|J3QT00	Nonsense_Mutation	SNP	ENST00000389420.3	37	c.229C>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633380	0.87660	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	.	.	.	3.57	-2.09	0.07232	.	0.308963	0.18223	N	0.147801	.	.	.	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3976	0.83621	0.0:0.0:0.7072:0.2927	.	.	.	.	X	77	.	ENSP00000374068:R77X	R	-	1	2	ADAMTS20	42231203	0.633000	0.27181	0.094000	0.20943	0.933000	0.57130	0.340000	0.19892	-0.381000	0.07882	-0.264000	0.10439	CGA		0.617	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		24	72	0	0	0	1	0	24	72				
TRBV7-4	28594	broad.mit.edu	37	7	142176530	142176530	+	RNA	SNP	A	A	T			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr7:142176530A>T	ENST00000390369.2	-	0	145									T cell receptor beta variable 7-4 (gene/pseudogene)																		ATAAAGGGTTACATGACCCGA	0.542																																						ENST00000390369.2																			0																				77.0	73.0	75.0					7																	142176530		1883	4131	6014			0							g.chr7:142176530A>T	L36092		7q34	2012-02-07	2008-09-12		ENSG00000253409	ENSG00000253409		"""T cell receptors / TRB locus"""	12238	other	T cell receptor gene			"""T cell receptor beta variable 7-4"""			8650574	Standard	NG_001333		Approved	TRBV74, TCRBV6S8A2T, TCRBV7S4			OTTHUMG00000158508		7.37:g.142176530A>T														0	145	-									RNA	SNP	ENST00000390369.2	37																																																																																						0.542	TRBV7-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351214.2	NG_001333		8	36	0	0	0	1	0	8	36				
ZFR	51663	broad.mit.edu	37	5	32403259	32403259	+	Missense_Mutation	SNP	T	T	A			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr5:32403259T>A	ENST00000265069.8	-	8	1570	c.1468A>T	c.(1468-1470)Aca>Tca	p.T490S		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	490					multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		GCCATATTTGTAGGCACTGCT	0.403																																						ENST00000265069.8																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(1468-1470)Aca>Tca		zinc finger RNA binding protein							157.0	151.0	153.0					5																	32403259		2203	4300	6503	SO:0001583	missense	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32403259T>A	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.1468A>T	5.37:g.32403259T>A	ENSP00000265069:p.Thr490Ser						p.T490S	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	8	1570	-			490					B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	ENST00000265069.8	37	c.1468A>T	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	T	11.71	1.720464	0.30503	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.04654	3.58	5.73	3.41	0.39046	.	0.527191	0.22501	N	0.059228	T	0.02119	0.0066	N	0.03608	-0.345	0.34064	D	0.657588	B	0.12013	0.005	B	0.14023	0.01	T	0.39165	-0.9627	10	0.20046	T	0.44	.	7.2587	0.26191	0.0:0.2891:0.0:0.7109	.	490	Q96KR1	ZFR_HUMAN	S	490;468	ENSP00000265069:T490S	ENSP00000265069:T490S	T	-	1	0	ZFR	32439016	0.998000	0.40836	1.000000	0.80357	0.963000	0.63663	0.375000	0.20518	1.020000	0.39573	0.402000	0.26972	ACA		0.403	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			15	83	0	0	0	1	0	15	83				
C10orf91	170393	broad.mit.edu	37	10	134261457	134261457	+	Silent	SNP	C	C	G	rs376778262		TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr10:134261457C>G	ENST00000392630.3	+	3	391	c.330C>G	c.(328-330)ccC>ccG	p.P110P	C10orf91_ENST00000321248.2_Silent_p.P110P	NM_173541.2	NP_775812.1	Q5T1B1	CJ091_HUMAN	chromosome 10 open reading frame 91	110										endometrium(1)|kidney(1)|lung(1)|ovary(2)	5		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)		AGGCAGCTCCCGTGGTAGATC	0.677																																						ENST00000392630.3																			0				endometrium(1)|kidney(1)|lung(1)|ovary(2)	5						c.(328-330)ccC>ccG		chromosome 10 open reading frame 91							49.0	61.0	57.0					10																	134261457		2203	4298	6501	SO:0001819	synonymous_variant	170393							g.chr10:134261457C>G	BC030794	CCDS7668.1	10q26.3	2004-03-16			ENSG00000180066	ENSG00000180066			27275	protein-coding gene	gene with protein product						12477932	Standard	NM_173541		Approved	bA432J24.4	uc001llm.3	Q5T1B1	OTTHUMG00000019289	ENST00000392630.3:c.330C>G	10.37:g.134261457C>G						C10orf91_ENST00000321248.2_Silent_p.P110P	p.P110P	NM_173541.2	NP_775812.1	Q5T1B1	CJ091_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)	3	391	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	110					Q8N0T7	Silent	SNP	ENST00000392630.3	37	c.330C>G	CCDS7668.1																																																																																				0.677	C10orf91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051078.2	NM_173541		8	131	0	0	0	1	0	8	131				
ENO1	2023	broad.mit.edu	37	1	8926458	8926458	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr1:8926458G>A	ENST00000234590.4	-	7	666	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	183	Required for repression of c-myc promoter activity.				carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GCTCCAATGCGCATGGCTTCC	0.512																																					Esophageal Squamous(21;302 608 19946 22210 33560)	ENST00000234590.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(547-549)Cgc>Tgc		enolase 1, (alpha)							141.0	132.0	135.0					1																	8926458		2203	4300	6503	SO:0001583	missense	2023				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr1:8926458G>A	BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.547C>T	1.37:g.8926458G>A	ENSP00000234590:p.Arg183Cys						p.R183C	NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	7	666	-	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	183			Required for repression of c-myc promoter activity.		B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Missense_Mutation	SNP	ENST00000234590.4	37	c.547C>T	CCDS97.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.849934	0.71603	.	.	ENSG00000074800	ENST00000234590	T	0.58358	0.34	5.33	5.33	0.75918	Enolase, C-terminal (1);	0.052249	0.85682	N	0.000000	T	0.63792	0.2541	M	0.87097	2.86	0.80722	D	1	B;B;B;B;B	0.31769	0.194;0.238;0.339;0.161;0.194	B;B;B;B;B	0.34991	0.102;0.123;0.193;0.061;0.102	T	0.69720	-0.5069	10	0.87932	D	0	-2.9305	18.013	0.89230	0.0:0.0:1.0:0.0	.	87;150;21;90;183	E2DRY6;A4UCS8;Q9BT62;P06733-2;P06733	.;.;.;.;ENOA_HUMAN	C	183	ENSP00000234590:R183C	ENSP00000234590:R183C	R	-	1	0	ENO1	8849045	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.984000	0.88150	2.492000	0.84095	0.563000	0.77884	CGC		0.512	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1	NM_001428		4	122	0	0	0	1	0	4	122				
ZNF420	147923	broad.mit.edu	37	19	37580021	37580021	+	Start_Codon_SNP	SNP	A	A	G			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr19:37580021A>G	ENST00000337995.3	+	3	216	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	CTD-2293H3.1_ENST00000588369.1_RNA|ZNF420_ENST00000304239.7_Start_Codon_SNP_p.M1V	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	1					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTAAAAACCATGGCTCGGGT	0.423																																						ENST00000337995.3																			0				breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27						c.(1-3)Atg>Gtg		zinc finger protein 420							277.0	241.0	253.0					19																	37580021		2203	4300	6503	SO:0001582	initiator_codon_variant	147923				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37580021A>G	AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.1A>G	19.37:g.37580021A>G	ENSP00000338770:p.Met1Val					ZNF420_ENST00000304239.7_Start_Codon_SNP_p.M1V	p.M1V	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		3	216	+			1					B2RDY6|Q96ML5	Translation_Start_Site	SNP	ENST00000337995.3	37	c.1A>G	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	.	5.922	0.354233	0.11182	.	.	ENSG00000197050	ENST00000304239;ENST00000337995	T;T	0.06294	3.32;3.47	4.14	2.03	0.26663	Krueppel-associated box (1);	.	.	.	.	T	0.04272	0.0118	.	.	.	0.24096	N	0.99589	B	0.02656	0.0	B	0.04013	0.001	T	0.44726	-0.9309	8	0.27785	T	0.31	.	5.5448	0.17057	0.7697:0.0:0.2303:0.0	.	1	Q8TAQ5	ZN420_HUMAN	V	1	ENSP00000306102:M1V;ENSP00000338770:M1V	ENSP00000306102:M1V	M	+	1	0	ZNF420	42271861	0.424000	0.25490	0.413000	0.26509	0.339000	0.28857	1.040000	0.30278	0.263000	0.21812	0.533000	0.62120	ATG		0.423	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689	Missense_Mutation	3	59	0	0	0	1	0	3	59				
F5	2153	broad.mit.edu	37	1	169511343	169511343	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr1:169511343C>A	ENST00000367797.3	-	13	3186	c.2985G>T	c.(2983-2985)caG>caT	p.Q995H	F5_ENST00000367796.3_Missense_Mutation_p.Q1000H	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	995	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GGTGGCCACTCTGCTTTCCAG	0.468																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(2998-3000)caG>caT		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						135.0	143.0	140.0					1																	169511343		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169511343C>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.2985G>T	1.37:g.169511343C>A	ENSP00000356771:p.Gln995His					F5_ENST00000367797.3_Missense_Mutation_p.Q995H	p.Q1000H			P12259	FA5_HUMAN			13	3201	-	all_hematologic(923;0.208)		995			B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.3000G>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	9.201	1.028536	0.19512	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.20881	2.04;2.04	5.08	-5.02	0.02982	.	0.922522	0.09211	N	0.833265	T	0.02767	0.0083	N	0.24115	0.695	0.21355	N	0.999715	B	0.06786	0.001	B	0.04013	0.001	T	0.41734	-0.9492	9	0.44086	T	0.13	0.0848	0.2349	0.00184	0.2299:0.1982:0.2387:0.3332	.	995	P12259	FA5_HUMAN	H	995;1000	ENSP00000356771:Q995H;ENSP00000356770:Q1000H	ENSP00000356770:Q1000H	Q	-	3	2	F5	167777967	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.293000	0.08320	-0.801000	0.04427	-0.262000	0.10625	CAG		0.468	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		34	130	1	0	2.87052e-16	1	2.98534e-16	34	130				
FAM135B	51059	broad.mit.edu	37	8	139278013	139278013	+	Missense_Mutation	SNP	C	C	T	rs370398438		TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr8:139278013C>T	ENST00000395297.1	-	4	400	c.230G>A	c.(229-231)cGg>cAg	p.R77Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	77										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTCTTCATTCCGGTATAAGAT	0.488										HNSCC(54;0.14)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18715	0.0		0.0	False		,,,				2504	0.001					ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(229-231)cGg>cAg		family with sequence similarity 135, member B		C	GLN/ARG	0,3894		0,0,1947	97.0	96.0	96.0		230	5.9	1.0	8		96	1,8309		0,1,4154	no	missense	FAM135B	NM_015912.3	43	0,1,6101	TT,TC,CC		0.012,0.0,0.0082	probably-damaging	77/1407	139278013	1,12203	1947	4155	6102	SO:0001583	missense	51059							g.chr8:139278013C>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.230G>A	8.37:g.139278013C>T	ENSP00000378710:p.Arg77Gln	HNSCC(54;0.14)					p.R77Q	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		4	400	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		77					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.230G>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	36	5.659650	0.96734	0.0	1.2E-4	ENSG00000147724	ENST00000395297;ENST00000160713	T	0.16073	2.37	5.92	5.92	0.95590	.	0.000000	0.64402	U	0.000003	T	0.43344	0.1243	M	0.77820	2.39	0.42742	D	0.993747	D	0.89917	1.0	D	0.87578	0.998	T	0.11518	-1.0584	10	0.33141	T	0.24	-15.4773	15.8207	0.78638	0.0:1.0:0.0:0.0	.	77	Q49AJ0	F135B_HUMAN	Q	77	ENSP00000378710:R77Q	ENSP00000160713:R77Q	R	-	2	0	FAM135B	139347195	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	6.215000	0.72206	2.809000	0.96659	0.655000	0.94253	CGG		0.488	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		4	51	0	0	0	1	0	4	51				
LTBP2	4053	broad.mit.edu	37	14	74991895	74991895	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr14:74991895C>T	ENST00000261978.4	-	15	2848	c.2462G>A	c.(2461-2463)gGg>gAg	p.G821E	LTBP2_ENST00000556690.1_Missense_Mutation_p.G821E	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	821					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CTCTGCAATCCCCTGTTCAGG	0.612																																						ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2461-2463)gGg>gAg		latent transforming growth factor beta binding protein 2							264.0	213.0	230.0					14																	74991895		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74991895C>T		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.2462G>A	14.37:g.74991895C>T	ENSP00000261978:p.Gly821Glu					LTBP2_ENST00000556690.1_Missense_Mutation_p.G821E	p.G821E	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	15	2848	-			821					Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.2462G>A	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	C	0.214	-1.033766	0.02029	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.77620	-1.11;-1.11	4.9	-0.851	0.10716	.	0.541544	0.15301	N	0.269617	T	0.54481	0.1861	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.40136	-0.9579	10	0.05525	T	0.97	.	3.8913	0.09120	0.238:0.3037:0.0:0.4583	.	821	Q14767	LTBP2_HUMAN	E	821	ENSP00000261978:G821E;ENSP00000451477:G821E	ENSP00000261978:G821E	G	-	2	0	LTBP2	74061648	0.000000	0.05858	0.008000	0.14137	0.017000	0.09413	-0.749000	0.04813	-0.374000	0.07967	-0.136000	0.14681	GGG		0.612	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		11	75	0	0	0	1	0	11	75				
PPRC1	23082	broad.mit.edu	37	10	103906642	103906642	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr10:103906642A>G	ENST00000278070.2	+	9	3932	c.3893A>G	c.(3892-3894)tAt>tGt	p.Y1298C	PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.Y265C	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1298					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GACCATGACTATTGTGTCCGG	0.577																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(3892-3894)tAt>tGt		peroxisome proliferator-activated receptor gamma, coactivator-related 1							85.0	77.0	80.0					10																	103906642		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103906642A>G	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.3893A>G	10.37:g.103906642A>G	ENSP00000278070:p.Tyr1298Cys					PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.Y265C	p.Y1298C	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	9	3932	+		Colorectal(252;0.122)	1298					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.3893A>G	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.056938	0.76074	.	.	ENSG00000148840	ENST00000278070;ENST00000370012	T;T	0.70164	-0.11;-0.46	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.80465	0.4628	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.82577	-0.0388	10	0.72032	D	0.01	.	15.5376	0.76016	1.0:0.0:0.0:0.0	.	1178;1298	Q5VV67-2;Q5VV67	.;PPRC1_HUMAN	C	1298;265	ENSP00000278070:Y1298C;ENSP00000359029:Y265C	ENSP00000278070:Y1298C	Y	+	2	0	PPRC1	103896632	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.797000	0.91882	2.072000	0.62099	0.379000	0.24179	TAT		0.577	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		9	31	0	0	0	1	0	9	31				
ROBO1	6091	broad.mit.edu	37	3	78666863	78666863	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr3:78666863delC	ENST00000464233.1	-	27	4317	c.4204delG	c.(4204-4206)gacfs	p.D1402fs	ROBO1_ENST00000495273.1_Frame_Shift_Del_p.D1357fs|ROBO1_ENST00000436010.2_Frame_Shift_Del_p.D1363fs|ROBO1_ENST00000467549.1_Frame_Shift_Del_p.D1302fs	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1402					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGGGCAAAGTCAGCATCAGTG	0.552																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(4087-4089)acfs		roundabout, axon guidance receptor, homolog 1 (Drosophila)							61.0	65.0	64.0					3																	78666863		1976	4139	6115	SO:0001589	frameshift_variant	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78666863delC	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.4204delG	3.37:g.78666863delC	ENSP00000420321:p.Asp1402fs					ROBO1_ENST00000467549.1_Frame_Shift_Del_p.D1302fs|ROBO1_ENST00000495273.1_Frame_Shift_Del_p.D1357fs|ROBO1_ENST00000464233.1_Frame_Shift_Del_p.D1402fs	p.D1363fs			Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	25	5084	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1402					B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Frame_Shift_Del	DEL	ENST00000464233.1	37	c.4087delG	CCDS54611.1																																																																																				0.552	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		9	41						9	41	---	---	---	---
MFRP	83552	broad.mit.edu	37	11	119216272	119216273	+	Frame_Shift_Ins	INS	-	-	G	rs200825785	byFrequency	TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr11:119216272_119216273insG	ENST00000530681.1	-	5	642_643	c.498_499insC	c.(496-501)cccaacfs	p.N167fs	C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000449574.2_Frame_Shift_Ins_p.N167fs|MFRP_ENST00000529147.1_5'UTR|MFRP_ENST00000360167.4_Frame_Shift_Ins_p.N167fs|MFRP_ENST00000555262.1_Frame_Shift_Ins_p.N167fs	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	167	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		CAGTGGGTGTTGGGGGGGTAAG	0.564																																						ENST00000555262.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18	GRCh37	CD052468|CI067239	MFRP	D|I		c.(496-501)ccacacfs		membrane frizzled-related protein																																				SO:0001589	frameshift_variant	83552							g.chr11:119216272_119216273insG	AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"""membrane-type frizzled-related protein"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 1"""	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.499dupC	11.37:g.119216279_119216279dupG	ENSP00000456533:p.Asn167fs					MFRP_ENST00000449574.2_Frame_Shift_Ins_p.H167fs|MFRP_ENST00000530681.1_Frame_Shift_Ins_p.H167fs|MFRP_ENST00000360167.4_Frame_Shift_Ins_p.H167fs|MFRP_ENST00000529147.1_5'UTR|C1QTNF5_ENST00000445041.2_5'UTR	p.H167fs	NM_001278431.1	NP_001265360.1				BRCA - Breast invasive adenocarcinoma(274;3.84e-05)	5	657_658	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)						B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Frame_Shift_Ins	INS	ENST00000530681.1	37	c.498_499insC	CCDS8421.1																																																																																				0.564	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1	NM_031433		7	45						7	45	---	---	---	---
ZC3H13	23091	broad.mit.edu	37	13	46543691	46543691	+	Frame_Shift_Del	DEL	T	T	-			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr13:46543691delT	ENST00000242848.4	-	14	3336	c.2988delA	c.(2986-2988)aaafs	p.K996fs	ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.K996fs|ZC3H13_ENST00000378921.2_5'UTR			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	996	Lys-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TTTTCTGTCCTTTTTTTGGTG	0.333																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(2986-2988)aafs		zinc finger CCCH-type containing 13							133.0	133.0	133.0					13																	46543691		2203	4300	6503	SO:0001589	frameshift_variant	23091						nucleic acid binding|zinc ion binding	g.chr13:46543691delT	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2988delA	13.37:g.46543691delT	ENSP00000242848:p.Lys996fs					ZC3H13_ENST00000378921.2_5'UTR|ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.K996fs	p.K996fs			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	14	3336	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	996			Lys-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Frame_Shift_Del	DEL	ENST00000242848.4	37	c.2988delA																																																																																					0.333	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		16	60						16	60	---	---	---	---
KCNC3	3748	broad.mit.edu	37	19	50823518	50823518	+	Frame_Shift_Del	DEL	G	G	-			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr19:50823518delG	ENST00000477616.1	-	4	2553	c.2259delC	c.(2257-2259)gccfs	p.A753fs	KCNC3_ENST00000376959.2_Intron|KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000391818.2_Intron	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	753					cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	GGGATATCCAGGCCGCGGCGT	0.692																																					Melanoma(91;1496 2324 50908)	ENST00000477616.1																			0				endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13						c.(2257-2259)gcfs		potassium voltage-gated channel, Shaw-related subfamily, member 3							2.0	3.0	3.0					19																	50823518		1689	3482	5171	SO:0001589	frameshift_variant	3748				cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:50823518delG	AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6235	protein-coding gene	gene with protein product		176264	"""spinocerebellar ataxia 13"""	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.2259delC	19.37:g.50823518delG	ENSP00000434241:p.Ala753fs					KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000376959.2_Intron	p.A753fs	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	4	2553	-		all_neural(266;0.057)|Ovarian(192;0.208)	753						Frame_Shift_Del	DEL	ENST00000477616.1	37	c.2259delC	CCDS12793.1																																																																																				0.692	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314288.2	NM_004977		2	4						2	4	---	---	---	---
