#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
CAMTA1	23261	broad.mit.edu	37	1	7797314	7797314	+	Splice_Site	SNP	G	G	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr1:7797314G>A	ENST00000303635.7	+	15	3549		c.e15-1		CAMTA1_ENST00000439411.2_Splice_Site	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTGTCTTCTAGATGTGGGCGT	0.557			T	WWTR1	epitheliod hemangioendothelioma																																	uc001aoi.2				Dom	yes		1	1p36.31-p36.23	611501		calmodulin binding transcription activator 1			M					0				ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.e15-1		calmodulin-binding transcription activator 1							98.0	101.0	100.0					1																	7797314		2203	4300	6503	SO:0001630	splice_region_variant	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7797314G>A	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.3343-1G>A	1.37:g.7797314G>A						CAMTA1_uc010nzv.1_Splice_Site_p.M202_splice|CAMTA1_uc001aok.3_Splice_Site_p.M158_splice|CAMTA1_uc001aoj.2_Splice_Site_p.M71_splice	p.M1115_splice	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	15	3550	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)						A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Splice_Site	SNP	ENST00000303635.7	37	c.3343_splice	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717976	0.68844	.	.	ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646;ENST00000495233	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CAMTA1	7719901	1.000000	0.71417	0.998000	0.56505	0.808000	0.45660	9.807000	0.99171	2.793000	0.96121	0.655000	0.94253	.		0.557	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215	Intron
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121116047	121116047	+	lincRNA	SNP	G	G	C			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr1:121116047G>C	ENST00000437515.1	-	0	329					NR_104189.1																						TGAAGGAGAAGGTATGTAGGC	0.522																																						uc001eis.2																			0											c.(211-213)AAG>AAC		SLIT-ROBO Rho GTPase activating protein 2																																						0							g.chr1:121116047G>C																													1.37:g.121116047G>C							p.K71N	NM_001042758	NP_001036223					2	281	+									Missense_Mutation	SNP	ENST00000437515.1	37	c.213G>C																																																																																					0.522	RP11-343N15.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000098477.2		
GJA8	2703	broad.mit.edu	37	1	147380445	147380445	+	Silent	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr1:147380445C>T	ENST00000369235.1	+	1	363	c.363C>T	c.(361-363)aaC>aaT	p.N121N	GJA8_ENST00000240986.4_Silent_p.N121N			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	121					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CGGGGACTAACGGCGGCCCGG	0.657																																					Melanoma(76;1255 1795 8195 52096)	uc001epu.1																			0				ovary(2)|large_intestine(2)|breast(1)|skin(1)	6						c.(361-363)AAC>AAT		connexin 50							44.0	51.0	49.0					1																	147380445		2203	4299	6502	SO:0001819	synonymous_variant	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380445C>T	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.363C>T	1.37:g.147380445C>T							p.N121N	NM_005267	NP_005258	P48165	CXA8_HUMAN			2	426	+	all_hematologic(923;0.0276)		121			Cytoplasmic (Potential).		A7L5M5|Q5VVN9|Q9NP25	Silent	SNP	ENST00000369235.1	37	c.363C>T	CCDS30834.1																																																																																				0.657	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267	
UBAP2L	9898	broad.mit.edu	37	1	154207187	154207187	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr1:154207187C>T	ENST00000361546.2	+	4	442	c.400C>T	c.(400-402)Cgt>Tgt	p.R134C	UBAP2L_ENST00000271877.7_Missense_Mutation_p.R134C|UBAP2L_ENST00000428931.1_Missense_Mutation_p.R134C|UBAP2L_ENST00000343815.6_Missense_Mutation_p.R134C			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	134					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TAGTCGGCGACGTGGTGGGCC	0.552																																						uc001fep.3																			0				ovary(1)|central_nervous_system(1)	2						c.(400-402)CGT>TGT		ubiquitin associated protein 2-like isoform a							50.0	52.0	51.0					1																	154207187		2203	4300	6503	SO:0001583	missense	9898				binding of sperm to zona pellucida		protein binding	g.chr1:154207187C>T	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.400C>T	1.37:g.154207187C>T	ENSP00000355343:p.Arg134Cys					UBAP2L_uc009wot.2_Missense_Mutation_p.R134C|UBAP2L_uc010pek.1_Missense_Mutation_p.R133C|UBAP2L_uc010pel.1_Missense_Mutation_p.R133C|UBAP2L_uc001fen.1_Missense_Mutation_p.R133C|UBAP2L_uc010pem.1_Missense_Mutation_p.R133C|UBAP2L_uc010pen.1_Missense_Mutation_p.R37C	p.R134C	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	567	+	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		134					B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	ENST00000361546.2	37	c.400C>T	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419577	0.83559	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000441890;ENST00000271877;ENST00000412596;ENST00000368504;ENST00000437652;ENST00000456325;ENST00000361546	T;T;T;T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38;1.4;1.38;1.38	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.55353	0.1915	M	0.71206	2.165	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	P;D;P;P;P	0.91635	0.848;0.999;0.872;0.872;0.818	T	0.54721	-0.8251	10	0.62326	D	0.03	-4.5788	18.6514	0.91431	0.0:1.0:0.0:0.0	.	37;134;134;134;134	B4DZJ6;F8W726;Q14157-4;Q14157-1;Q14157	.;.;.;.;UBP2L_HUMAN	C	134	ENSP00000345308:R134C;ENSP00000389445:R134C;ENSP00000399920:R134C;ENSP00000271877:R134C;ENSP00000389052:R134C;ENSP00000357490:R134C;ENSP00000389717:R134C;ENSP00000415310:R134C;ENSP00000355343:R134C	ENSP00000271877:R134C	R	+	1	0	UBAP2L	152473811	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.094000	0.50227	2.880000	0.98712	0.650000	0.86243	CGT		0.552	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847	
CACNA1S	779	broad.mit.edu	37	1	201058474	201058474	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr1:201058474C>T	ENST00000362061.3	-	6	1038	c.812G>A	c.(811-813)gGc>gAc	p.G271D	CACNA1S_ENST00000367338.3_Missense_Mutation_p.G271D	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	271					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGGGTGATGCCATGGTTGGG	0.627																																						uc001gvv.2																			0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(811-813)GGC>GAC		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						86.0	71.0	76.0					1																	201058474		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201058474C>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.812G>A	1.37:g.201058474C>T	ENSP00000355192:p.Gly271Asp						p.G271D	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			6	1039	-			271			Extracellular (Potential).|I.		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.812G>A	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	C	31	5.075717	0.94000	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.97480	-4.4;-4.4	4.85	4.85	0.62838	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98667	0.9553	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99804	1.1037	10	0.87932	D	0	.	18.313	0.90207	0.0:1.0:0.0:0.0	.	271	Q13698	CAC1S_HUMAN	D	271	ENSP00000355192:G271D;ENSP00000356307:G271D	ENSP00000355192:G271D	G	-	2	0	CACNA1S	199325097	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.596000	0.82721	2.411000	0.81874	0.650000	0.86243	GGC		0.627	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069	
SPATA17	128153	broad.mit.edu	37	1	217824518	217824518	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr1:217824518C>A	ENST00000366933.4	+	3	293	c.238C>A	c.(238-240)Cag>Aag	p.Q80K		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	80	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.					cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		ACTAACTGTGCAGGTAAATAT	0.289																																						uc001hlh.1																			0				pancreas(1)	1						c.(238-240)CAG>AAG		spermatogenesis associated 17							73.0	82.0	79.0					1																	217824518		2203	4287	6490	SO:0001583	missense	128153					cytoplasm	calmodulin binding	g.chr1:217824518C>A	AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"""IQ motif containing H"""	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.238C>A	1.37:g.217824518C>A	ENSP00000355900:p.Gln80Lys					SPATA17_uc009xdr.1_RNA|SPATA17_uc001hli.2_Missense_Mutation_p.Q80K	p.Q80K	NM_138796	NP_620151	Q96L03	SPT17_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)	3	264	+			80			IQ 2.		A5D6N2	Missense_Mutation	SNP	ENST00000366933.4	37	c.238C>A	CCDS1519.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.736913	0.00681	.	.	ENSG00000162814	ENST00000366933	T	0.37915	1.17	4.91	2.57	0.30868	.	0.105878	0.64402	N	0.000003	T	0.05823	0.0152	N	0.00152	-1.975	0.25757	N	0.984998	B	0.02656	0.0	B	0.01281	0.0	T	0.37337	-0.9710	10	0.02654	T	1	-13.3869	4.0665	0.09862	0.6435:0.2222:0.1342:0.0	.	80	Q96L03	SPT17_HUMAN	K	80	ENSP00000355900:Q80K	ENSP00000355900:Q80K	Q	+	1	0	SPATA17	215891141	0.373000	0.25073	0.941000	0.38009	0.230000	0.25150	0.082000	0.14847	0.316000	0.23135	-0.271000	0.10264	CAG		0.289	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	NM_138796	
DISC1	27185	broad.mit.edu	37	1	232144583	232144583	+	Nonsense_Mutation	SNP	C	C	T	rs190975963		TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr1:232144583C>T	ENST00000439617.2	+	11	2148	c.2095C>T	c.(2095-2097)Cga>Tga	p.R699*	DISC1_ENST00000366637.3_Nonsense_Mutation_p.R31*|DISC1_ENST00000535983.1_Silent_p.V678V|DISC1_ENST00000427560.1_3'UTR|DISC1_ENST00000537876.1_3'UTR	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	699	Interaction with ATF4 and ATF5.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GGAAGCTTGTCGATTGCTTAT	0.493																																						uc001huz.2																			0				skin(1)	1						c.(2095-2097)CGA>TGA		disrupted in schizophrenia 1 isoform L							80.0	81.0	81.0					1																	232144583		1975	4169	6144	SO:0001587	stop_gained	27185				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	g.chr1:232144583C>T	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000439617.2:c.2095C>T	1.37:g.232144583C>T	ENSP00000403888:p.Arg699*					TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pxd.1_Nonsense_Mutation_p.R344*|DISC1_uc010pxe.1_Nonsense_Mutation_p.R699*|DISC1_uc009xfr.2_Nonsense_Mutation_p.R654*|DISC1_uc010pxf.1_Silent_p.V678V|DISC1_uc010pxg.1_3'UTR|DISC1_uc010pxh.1_Nonsense_Mutation_p.R731*|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_Nonsense_Mutation_p.R344*|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Nonsense_Mutation_p.R577*|DISC1_uc010pxn.1_Nonsense_Mutation_p.R344*|DISC1_uc001hva.2_Nonsense_Mutation_p.R699*	p.R699*	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN			11	2148	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	699			Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Interaction with ATF4 and ATF5.		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Nonsense_Mutation	SNP	ENST00000439617.2	37	c.2095C>T		.	.	.	.	.	.	.	.	.	.	C	34	5.402705	0.96030	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000366638;ENST00000532576;ENST00000427560	.	.	.	4.72	2.83	0.33086	.	0.582661	0.16406	N	0.215805	.	.	.	.	.	.	0.19300	N	0.999979	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-6.1243	6.8046	0.23770	0.175:0.7336:0.0:0.0914	.	.	.	.	X	699;699;731;577;31	.	ENSP00000355597:R699X	R	+	1	2	DISC1	230211206	0.986000	0.35501	0.031000	0.17742	0.799000	0.45148	4.332000	0.59279	0.580000	0.29522	-0.188000	0.12872	CGA		0.493	DISC1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000092351.2	NM_018662	
PTEN	5728	broad.mit.edu	37	10	89692905	89692905	+	Frame_Shift_Del	DEL	G	G	-	rs121913292|rs121909229		TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr10:89692905delG	ENST00000371953.3	+	5	1746	c.389delG	c.(388-390)cgafs	p.R130fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CWS1 and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> Q (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9915974}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R130Q(62)|p.0?(37)|p.R130fs*4(13)|p.R130L(12)|p.R130P(7)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*50(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGAAAGGGACGAACTGGTGTA	0.403	R130Q(JHUEM1_ENDOMETRIUM)|R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2	R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)|R130Q(JHUEM1_ENDOMETRIUM)	31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		151	Substitution - Missense(81)|Whole gene deletion(37)|Deletion - Frameshift(23)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(1)	p.R130G(65)|p.R130*(61)|p.R130Q(43)|p.R130fs*4(12)|p.R130L(7)|p.R55fs*1(4)|p.R130P(4)|p.K128_R130del(3)|p.Y27_N212>Y(2)|p.?(2)|p.Y27fs*1(2)|p.R130R(1)|p.K128fs*47(1)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*50(1)|p.F56fs*2(1)	endometrium(77)|prostate(18)|central_nervous_system(16)|lung(7)|breast(7)|ovary(7)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|thyroid(2)|soft_tissue(2)|urinary_tract(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	GRCh37	CM981670|CM991081	PTEN	M	rs121909229	c.(388-390)CGAfs		phosphatase and tensin homolog							139.0	129.0	133.0					10																	89692905		2203	4300	6503	SO:0001589	frameshift_variant	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692905delG	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.389delG	10.37:g.89692905delG	ENSP00000361021:p.Arg130fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.R130fs	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1420	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	130	R->M: Does not affect the ability to inhibit AKT/PKB activation.	R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.389delG	CCDS31238.1																																																																																				0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
MUC5B	727897	broad.mit.edu	37	11	1263896	1263896	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr11:1263896C>T	ENST00000529681.1	+	31	5844	c.5786C>T	c.(5785-5787)aCc>aTc	p.T1929I	MUC5B_ENST00000447027.1_Missense_Mutation_p.T1932I|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1929	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCGACCTCCACCCTGAGAACA	0.637																																						uc009ycr.1																			0					0						c.(7864-7866)ACC>ATC		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							129.0	158.0	148.0					11																	1263896		2169	4238	6407	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1263896C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.5786C>T	11.37:g.1263896C>T	ENSP00000436812:p.Thr1929Ile					MUC5B_uc001ltb.2_Missense_Mutation_p.T1932I	p.T2622I	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	47	7991	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1929			7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.7865C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	7.618	0.676191	0.14841	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.29142	1.58;1.8	3.01	1.07	0.20283	.	.	.	.	.	T	0.26919	0.0659	M	0.64404	1.975	0.09310	N	1	P;B	0.35077	0.483;0.241	B;B	0.30646	0.118;0.118	T	0.17167	-1.0378	9	0.87932	D	0	.	6.425	0.21764	0.0:0.7565:0.0:0.2435	.	2622;1932	A7Y9J9;E9PBJ0	.;.	I	1929;1932;1930;1999	ENSP00000436812:T1929I;ENSP00000415793:T1932I	ENSP00000343037:T1930I	T	+	2	0	MUC5B	1220472	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	-2.122000	0.01321	0.064000	0.16427	0.089000	0.15464	ACC		0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
OR52N1	79473	broad.mit.edu	37	11	5809803	5809803	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr11:5809803T>C	ENST00000317078.1	-	1	243	c.244A>G	c.(244-246)Aac>Gac	p.N82D	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AAGAGAGTGTTGGGAAGGGTG	0.473																																						uc010qzo.1																			0				skin(1)	1						c.(244-246)AAC>GAC		olfactory receptor, family 52, subfamily N,							143.0	131.0	135.0					11																	5809803		2201	4296	6497	SO:0001583	missense	79473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5809803T>C	AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"""GPCR / Class A : Olfactory receptors"""	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.244A>G	11.37:g.5809803T>C	ENSP00000322823:p.Asn82Asp					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.N82D	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	244	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	82			Extracellular (Potential).		Q6IFF6	Missense_Mutation	SNP	ENST00000317078.1	37	c.244A>G	CCDS31398.1	.	.	.	.	.	.	.	.	.	.	T	14.37	2.515582	0.44763	.	.	ENSG00000181001	ENST00000317078	T	0.02974	4.09	4.59	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.226336	0.30989	N	0.008464	T	0.09642	0.0237	M	0.87617	2.895	0.09310	N	1	P	0.41524	0.753	P	0.46543	0.52	T	0.04961	-1.0915	10	0.87932	D	0	.	10.0686	0.42319	0.0:0.0:0.1686:0.8314	.	82	Q8NH53	O52N1_HUMAN	D	82	ENSP00000322823:N82D	ENSP00000322823:N82D	N	-	1	0	OR52N1	5766379	0.000000	0.05858	0.692000	0.30179	0.802000	0.45316	0.496000	0.22499	2.044000	0.60594	0.496000	0.49642	AAC		0.473	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401142.1	NM_001001913	
NPAS4	266743	broad.mit.edu	37	11	66189954	66189954	+	Silent	SNP	C	C	T	rs377576767		TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr11:66189954C>T	ENST00000311034.2	+	3	536	c.360C>T	c.(358-360)taC>taT	p.Y120Y		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	120	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						ACAGCATCTACGACATCATTG	0.557																																						uc001ohx.1																			0					0						c.(358-360)TAC>TAT		neuronal PAS domain protein 4		C		0,4400		0,0,2200	172.0	146.0	155.0		360	-3.3	1.0	11		155	2,8588	2.2+/-6.3	0,2,4293	no	coding-synonymous	NPAS4	NM_178864.3		0,2,6493	TT,TC,CC		0.0233,0.0,0.0154		120/803	66189954	2,12988	2200	4295	6495	SO:0001819	synonymous_variant	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66189954C>T	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.360C>T	11.37:g.66189954C>T						NPAS4_uc010rpc.1_Translation_Start_Site	p.Y120Y	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN			3	536	+			120			PAS 1.		B7ZL81|Q8N8S5|Q8N9Q9	Silent	SNP	ENST00000311034.2	37	c.360C>T	CCDS8138.1																																																																																				0.557	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864	
PRCP	5547	broad.mit.edu	37	11	82549612	82549612	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr11:82549612C>T	ENST00000313010.3	-	8	1285	c.1091G>A	c.(1090-1092)tGc>tAc	p.C364Y	PRCP_ENST00000535099.1_Missense_Mutation_p.C259Y|PRCP_ENST00000525772.1_5'UTR|PRCP_ENST00000393399.2_Missense_Mutation_p.C385Y	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	364					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TACTTCTGTGCAGGCCTAAGA	0.378																																						uc001ozs.2																			0				skin(1)	1						c.(1090-1092)TGC>TAC		prolylcarboxypeptidase isoform 1 preproprotein							87.0	77.0	81.0					11																	82549612		2203	4300	6503	SO:0001583	missense	5547				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity	g.chr11:82549612C>T	BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.1091G>A	11.37:g.82549612C>T	ENSP00000317362:p.Cys364Tyr					PRCP_uc001ozr.2_Missense_Mutation_p.C385Y	p.C364Y	NM_005040	NP_005031	P42785	PCP_HUMAN			8	1204	-			364					A8MU24|B2R7B7|B3KRK5|B5BU34	Missense_Mutation	SNP	ENST00000313010.3	37	c.1091G>A	CCDS8262.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646460	0.87958	.	.	ENSG00000137509	ENST00000313010;ENST00000393399;ENST00000535099	T;T;T	0.56941	0.43;0.43;0.43	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.83454	0.5258	H	0.96576	3.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87804	0.2627	9	.	.	.	-21.3631	20.6208	0.99490	0.0:1.0:0.0:0.0	.	364;385	P42785;A8MU24	PCP_HUMAN;.	Y	364;385;259	ENSP00000317362:C364Y;ENSP00000377055:C385Y;ENSP00000442077:C259Y	.	C	-	2	0	PRCP	82227260	1.000000	0.71417	0.982000	0.44146	0.884000	0.51177	7.487000	0.81328	2.882000	0.98803	0.655000	0.94253	TGC		0.378	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1	NM_005040	
KITLG	4254	broad.mit.edu	37	12	88939597	88939597	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr12:88939597G>C	ENST00000228280.5	-	2	243	c.61C>G	c.(61-63)Cct>Gct	p.P21A	KITLG_ENST00000347404.5_Missense_Mutation_p.P21A|KITLG_ENST00000357116.4_Intron	NM_000899.4	NP_000890.1	P21583	SCF_HUMAN	KIT ligand	21					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|negative regulation of mast cell apoptotic process (GO:0033026)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of myeloid leukocyte differentiation (GO:0002763)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	stem cell factor receptor binding (GO:0005173)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						TTGACGAGAGGATTAAATAGG	0.363									Testicular Cancer, Familial Clustering of																													uc001tav.2																			0				ovary(1)	1						c.(61-63)CCT>GCT		KIT ligand isoform b precursor							87.0	82.0	84.0					12																	88939597		2203	4300	6503	SO:0001583	missense	4254	Testicular_Cancer_Familial_Clustering_of	Familial Cancer Database		cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding	g.chr12:88939597G>C	M59964	CCDS31867.1, CCDS31868.1	12q22	2010-11-23			ENSG00000049130	ENSG00000049130			6343	protein-coding gene	gene with protein product	"""mast cell growth factor"", ""stem cell factor"", ""steel factor"", ""familial progressive hyperpigmentation 2"""	184745		MGF		2208279, 1707188, 19375057	Standard	NM_003994		Approved	SCF, SF, Kitl, KL-1, FPH2	uc001tav.3	P21583	OTTHUMG00000169888	ENST00000228280.5:c.61C>G	12.37:g.88939597G>C	ENSP00000228280:p.Pro21Ala					KITLG_uc001taw.2_Missense_Mutation_p.P21A	p.P21A	NM_000899	NP_000890	P21583	SCF_HUMAN			2	244	-			21					A0AV09|A8K2Q4|B7ZLM4|Q16487|Q68DZ2|Q7M4N8|Q9UQK7	Missense_Mutation	SNP	ENST00000228280.5	37	c.61C>G	CCDS31868.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796672	0.70567	.	.	ENSG00000049130	ENST00000228280;ENST00000347404	T;T	0.73575	-0.76;-0.76	5.66	5.66	0.87406	.	0.246950	0.41938	D	0.000795	T	0.77805	0.4185	L	0.59436	1.845	0.42127	D	0.991458	P;P	0.49559	0.925;0.892	B;P	0.48488	0.443;0.579	T	0.80146	-0.1504	10	0.66056	D	0.02	-1.119	17.0395	0.86484	0.0:0.0:1.0:0.0	.	21;21	P21583-2;P21583	.;SCF_HUMAN	A	21	ENSP00000228280:P21A;ENSP00000054216:P21A	ENSP00000228280:P21A	P	-	1	0	KITLG	87463728	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.958000	0.56737	2.832000	0.97577	0.655000	0.94253	CCT		0.363	KITLG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406424.2	NM_003994	
TXNRD1	7296	broad.mit.edu	37	12	104721416	104721416	+	Silent	SNP	G	G	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr12:104721416G>A	ENST00000529546.1	+	10	1170	c.945G>A	c.(943-945)ctG>ctA	p.L315L	TXNRD1_ENST00000542918.1_Silent_p.L403L|TXNRD1_ENST00000540716.1_Silent_p.L315L|TXNRD1_ENST00000429002.2_Silent_p.L503L|TXNRD1_ENST00000526691.1_Silent_p.L405L|TXNRD1_ENST00000397736.2_Silent_p.L397L|TXNRD1_ENST00000526390.1_Silent_p.L397L|TXNRD1_ENST00000354940.6_Silent_p.L353L|TXNRD1_ENST00000525566.1_Silent_p.L503L|TXNRD1_ENST00000526950.1_Silent_p.L422L|TXNRD1_ENST00000378070.4_Silent_p.L452L|TXNRD1_ENST00000388854.3_Silent_p.L405L|TXNRD1_ENST00000524698.1_Silent_p.L353L|TXNRD1_ENST00000503506.2_Silent_p.L353L|TXNRD1_ENST00000427956.1_Silent_p.L468L			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	503					cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	GAAGATTGCTGGCTCAGAGGC	0.473																																					Ovarian(139;555 1836 9186 9946 10884)	uc010swk.1																			0					0						c.(1507-1509)CTG>CTA		thioredoxin reductase 1 isoform 3							92.0	91.0	91.0					12																	104721416		1999	4183	6182	SO:0001819	synonymous_variant	7296				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr12:104721416G>A		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.945G>A	12.37:g.104721416G>A						TXNRD1_uc010swl.1_Silent_p.L353L|TXNRD1_uc010swm.1_Silent_p.L405L|TXNRD1_uc010swn.1_Silent_p.L353L|TXNRD1_uc010swo.1_Silent_p.L353L|TXNRD1_uc010swp.1_Silent_p.L315L|TXNRD1_uc010swq.1_Silent_p.L403L|TXNRD1_uc001tku.2_RNA|TXNRD1_uc009zun.2_Silent_p.L419L	p.L503L	NM_001093771	NP_001087240	Q16881	TRXR1_HUMAN			13	1531	+			503					B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Silent	SNP	ENST00000529546.1	37	c.1509G>A	CCDS58274.1																																																																																				0.473	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389969.1	NM_003330	
SCFD1	23256	broad.mit.edu	37	14	31142541	31142541	+	Silent	SNP	T	T	C			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr14:31142541T>C	ENST00000458591.2	+	12	1301	c.1074T>C	c.(1072-1074)ctT>ctC	p.L358L	SCFD1_ENST00000544052.2_Silent_p.L291L|SCFD1_ENST00000421551.3_Silent_p.L299L|SCFD1_ENST00000541123.1_Silent_p.L173L|SCFD1_ENST00000396629.2_Silent_p.L266L	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	358					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		TCAAACGACTTAAAAGCATTA	0.338																																						uc001wqm.1																			0					0						c.(1072-1074)CTT>CTC		vesicle transport-related protein isoform a							79.0	74.0	76.0					14																	31142541		2203	4300	6503	SO:0001819	synonymous_variant	23256				post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding	g.chr14:31142541T>C	AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 163"""	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.1074T>C	14.37:g.31142541T>C						SCFD1_uc001wqn.1_Silent_p.L291L|SCFD1_uc010tpg.1_Silent_p.L299L|SCFD1_uc010tph.1_Silent_p.L173L|SCFD1_uc010amf.1_Silent_p.L173L|SCFD1_uc010tpi.1_Silent_p.L266L|SCFD1_uc010amd.1_Silent_p.L190L|SCFD1_uc010ame.1_Silent_p.L291L	p.L358L	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)	12	1098	+	Hepatocellular(127;0.0877)		358					A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Silent	SNP	ENST00000458591.2	37	c.1074T>C	CCDS9639.1																																																																																				0.338	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3	NM_182835	
ESR2	2100	broad.mit.edu	37	14	64749369	64749369	+	Missense_Mutation	SNP	G	G	A	rs141516067	byFrequency	TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr14:64749369G>A	ENST00000341099.4	-	2	752	c.335C>T	c.(334-336)tCg>tTg	p.S112L	ESR2_ENST00000357782.2_Missense_Mutation_p.S112L|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000557772.1_Missense_Mutation_p.S112L|ESR2_ENST00000267525.6_Missense_Mutation_p.S112L|ESR2_ENST00000358599.5_Missense_Mutation_p.S112L|ESR2_ENST00000553796.1_Missense_Mutation_p.S112L|ESR2_ENST00000353772.3_Missense_Mutation_p.S112L|ESR2_ENST00000554572.1_Missense_Mutation_p.S112L|ESR2_ENST00000555278.1_Missense_Mutation_p.S112L|ESR2_ENST00000542956.1_Missense_Mutation_p.S112L	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	112	Modulating.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	GTGTTCTAGCGATCTTGCTTC	0.448													G|||	8	0.00159744	0.0	0.0	5008	,	,		22034	0.0		0.0	False		,,,				2504	0.0082					uc001xha.1																			0				central_nervous_system(2)|ovary(1)	3						c.(334-336)TCG>TTG		estrogen receptor beta isoform 1	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)						95.0	91.0	92.0					14																	64749369		2203	4300	6503	SO:0001583	missense	2100				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	g.chr14:64749369G>A	X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"""Nuclear hormone receptors"""	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.335C>T	14.37:g.64749369G>A	ENSP00000343925:p.Ser112Leu					ESR2_uc001xgu.2_Missense_Mutation_p.S112L|ESR2_uc001xgv.2_Missense_Mutation_p.S112L|ESR2_uc001xgw.2_RNA|ESR2_uc001xgx.2_Missense_Mutation_p.S112L|ESR2_uc001xgy.1_Missense_Mutation_p.S112L|ESR2_uc001xgz.1_Missense_Mutation_p.S112L|ESR2_uc010aqb.1_RNA|ESR2_uc010aqc.1_Missense_Mutation_p.S112L	p.S112L	NM_001437	NP_001428	Q92731	ESR2_HUMAN		all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	2	803	-			112			Modulating.		A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Missense_Mutation	SNP	ENST00000341099.4	37	c.335C>T	CCDS9762.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926040	0.52759	.	.	ENSG00000140009	ENST00000556275;ENST00000542956;ENST00000554572;ENST00000353772;ENST00000358599;ENST00000555278;ENST00000553796;ENST00000357782;ENST00000557772;ENST00000341099;ENST00000267525	D;D;D;D;D;D;D;D;D;D;D	0.90732	-2.71;-2.66;-2.64;-2.64;-2.64;-2.72;-2.71;-2.72;-2.71;-2.55;-2.27	5.56	4.66	0.58398	Estrogen receptor beta, N-terminal (1);	0.864375	0.10220	N	0.701042	D	0.86331	0.5907	L	0.48642	1.525	0.36663	D	0.878047	P;B;B;B;B	0.44946	0.846;0.058;0.119;0.102;0.232	B;B;B;B;B	0.33690	0.168;0.021;0.043;0.021;0.072	D	0.87338	0.2329	10	0.54805	T	0.06	.	13.8321	0.63386	0.0733:0.0:0.9267:0.0	.	112;112;112;112;112	Q92731-7;Q92731;Q92731-6;Q92731-5;F1D8N3	.;ESR2_HUMAN;.;.;.	L	112	ENSP00000452485:S112L;ENSP00000441792:S112L;ENSP00000450699:S112L;ENSP00000335551:S112L;ENSP00000351412:S112L;ENSP00000450488:S112L;ENSP00000452426:S112L;ENSP00000350427:S112L;ENSP00000451582:S112L;ENSP00000343925:S112L;ENSP00000267525:S112L	ENSP00000267525:S112L	S	-	2	0	ESR2	63819122	1.000000	0.71417	0.995000	0.50966	0.967000	0.64934	3.776000	0.55356	2.616000	0.88540	0.563000	0.77884	TCG		0.448	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1		
PAPLN	89932	broad.mit.edu	37	14	73729314	73729314	+	Silent	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr14:73729314C>T	ENST00000554301.1	+	18	2665	c.2502C>T	c.(2500-2502)ggC>ggT	p.G834G	PAPLN_ENST00000381166.3_Silent_p.G834G|PAPLN_ENST00000555445.1_Silent_p.G818G|PAPLN_ENST00000427855.1_Silent_p.G834G|PAPLN_ENST00000340738.5_Silent_p.G807G|PAPLN_ENST00000554314.1_3'UTR			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	834						basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GTCCTGCAGGCGAGCAGGAAC	0.682																																						uc010ttx.1																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2500-2502)GGC>GGT		papilin							14.0	13.0	13.0					14																	73729314		2160	4245	6405	SO:0001819	synonymous_variant	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73729314C>T	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.2502C>T	14.37:g.73729314C>T						PAPLN_uc001xnw.3_Silent_p.G807G|PAPLN_uc010arl.2_Intron|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Silent_p.G818G|PAPLN_uc010arm.2_Missense_Mutation_p.A26V|PAPLN_uc010arn.2_Silent_p.G34G	p.G834G	NM_173462	NP_775733	O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	18	2665	+			834					B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Silent	SNP	ENST00000554301.1	37	c.2502C>T																																																																																					0.682	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462	
GPR68	8111	broad.mit.edu	37	14	91700886	91700886	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr14:91700886C>T	ENST00000531499.2	-	2	848	c.509G>A	c.(508-510)cGc>cAc	p.R170H	GPR68_ENST00000535815.1_Missense_Mutation_p.R170H|GPR68_ENST00000238699.3_Missense_Mutation_p.R180H|GPR68_ENST00000529300.1_5'Flank			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	170					cellular response to pH (GO:0071467)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of osteoclast development (GO:2001206)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		AAAGCACACGCGGTGCTGGTT	0.627																																						uc001xzg.2																			0				kidney(1)	1						c.(508-510)CGC>CAC		G protein-coupled receptor 68							84.0	60.0	68.0					14																	91700886		2203	4300	6503	SO:0001583	missense	8111				inflammatory response	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:91700886C>T	U48405	CCDS9894.1, CCDS9894.2	14q31	2012-08-21				ENSG00000119714		"""GPCR / Class A : Orphans"""	4519	protein-coding gene	gene with protein product		601404				8661159	Standard	NM_001177676		Approved	OGR1	uc001xzg.3	Q15743		ENST00000531499.2:c.509G>A	14.37:g.91700886C>T	ENSP00000434045:p.Arg170His					GPR68_uc001xzh.2_Missense_Mutation_p.R180H	p.R170H	NM_003485	NP_003476	Q15743	OGR1_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	2	850	-		all_cancers(154;0.0555)	170			Extracellular (Potential).		Q13334|Q4VBB4|Q6IX34	Missense_Mutation	SNP	ENST00000531499.2	37	c.509G>A	CCDS9894.2	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166094	0.57476	.	.	ENSG00000119714	ENST00000531499;ENST00000238699;ENST00000535815;ENST00000529102	T;T;T;T	0.37411	1.2;1.2;1.2;1.2	5.12	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.387540	0.25327	N	0.031464	T	0.29061	0.0722	N	0.16478	0.41	0.29833	N	0.829898	D;D	0.56521	0.976;0.976	P;P	0.51055	0.657;0.657	T	0.07520	-1.0768	10	0.13470	T	0.59	.	12.0805	0.53667	0.4793:0.5207:0.0:0.0	.	170;170	Q6NWR5;Q15743	.;OGR1_HUMAN	H	170;180;170;170	ENSP00000434045:R170H;ENSP00000238699:R180H;ENSP00000440797:R170H;ENSP00000432740:R170H	ENSP00000238699:R180H	R	-	2	0	GPR68	90770639	0.549000	0.26481	0.992000	0.48379	0.874000	0.50279	1.031000	0.30165	1.100000	0.41517	0.555000	0.69702	CGC		0.627	GPR68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395245.2		
BDKRB1	623	broad.mit.edu	37	14	96730468	96730468	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr14:96730468G>A	ENST00000216629.6	+	3	1055	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Missense_Mutation_p.R150Q	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	150					cell migration (GO:0016477)|inflammatory response (GO:0006954)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell growth (GO:0030308)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|peptide binding (GO:0042277)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		AGGCAGCAGCGGCGGAGGCAG	0.632																																						uc001yfh.2																			0				ovary(3)	3						c.(448-450)CGG>CAG		bradykinin receptor B1							42.0	44.0	43.0					14																	96730468		2203	4299	6502	SO:0001583	missense	623				elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity	g.chr14:96730468G>A	L42383	CCDS9943.1	14q32.1-q32.2	2012-08-08				ENSG00000100739		"""GPCR / Class A : Bradykinin receptors"""	1029	protein-coding gene	gene with protein product		600337				8808279	Standard	NM_000710		Approved	BKR1, B1BKR, bradyb1	uc001yfh.3	P46663		ENST00000216629.6:c.449G>A	14.37:g.96730468G>A	ENSP00000216629:p.Arg150Gln					BDKRB1_uc010avn.2_Missense_Mutation_p.R150Q	p.R150Q	NM_000710	NP_000701	P46663	BKRB1_HUMAN		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)	3	657	+		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)	150			Cytoplasmic (Potential).		A8K7F5|Q546S7|Q8N0Y8	Missense_Mutation	SNP	ENST00000216629.6	37	c.449G>A	CCDS9943.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012006	0.75046	.	.	ENSG00000100739	ENST00000216629;ENST00000553356	T;T	0.38077	1.16;1.16	5.03	4.13	0.48395	GPCR, rhodopsin-like superfamily (1);	0.135994	0.49305	U	0.000154	T	0.48822	0.1521	L	0.60067	1.865	0.09310	N	1	D;D	0.61080	0.987;0.989	P;P	0.59643	0.742;0.861	T	0.37197	-0.9716	10	0.49607	T	0.09	-16.3202	10.5854	0.45280	0.0898:0.0:0.9102:0.0	.	150;150	G3V4Y2;P46663	.;BKRB1_HUMAN	Q	150	ENSP00000216629:R150Q;ENSP00000452064:R150Q	ENSP00000216629:R150Q	R	+	2	0	BDKRB1	95800221	0.542000	0.26426	0.565000	0.28409	0.838000	0.47535	1.868000	0.39509	1.107000	0.41642	0.455000	0.32223	CGG		0.632	BDKRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413300.1		
MKRN3	7681	broad.mit.edu	37	15	23811282	23811282	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr15:23811282C>T	ENST00000314520.3	+	1	829	c.353C>T	c.(352-354)tCg>tTg	p.S118L	MKRN3_ENST00000568252.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	118					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TGTCGCTATTCGCACGACCTT	0.597																																						uc001ywh.3																			0				lung(6)|large_intestine(2)|ovary(2)	10						c.(352-354)TCG>TTG		makorin ring finger protein 3							59.0	60.0	60.0					15																	23811282		2203	4300	6503	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811282C>T	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.353C>T	15.37:g.23811282C>T	ENSP00000313881:p.Ser118Leu					MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.S118L	p.S118L	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	829	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	118			C3H1-type 1.			Missense_Mutation	SNP	ENST00000314520.3	37	c.353C>T	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125974	0.77436	.	.	ENSG00000179455	ENST00000314520	T	0.38887	1.11	3.94	3.94	0.45596	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	T	0.55210	0.1906	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.51973	-0.8637	10	0.42905	T	0.14	.	11.7999	0.52120	0.0:1.0:0.0:0.0	.	118	Q13064	MKRN3_HUMAN	L	118	ENSP00000313881:S118L	ENSP00000313881:S118L	S	+	2	0	MKRN3	21362375	1.000000	0.71417	0.900000	0.35374	0.507000	0.33981	5.807000	0.69157	2.498000	0.84270	0.563000	0.77884	TCG		0.597	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664	
ANKS3	124401	broad.mit.edu	37	16	4764084	4764084	+	Missense_Mutation	SNP	G	G	A	rs146798732		TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr16:4764084G>A	ENST00000304283.4	-	7	971	c.677C>T	c.(676-678)cCc>cTc	p.P226L	ANKS3_ENST00000450067.2_Missense_Mutation_p.P20L|ANKS3_ENST00000585773.1_Missense_Mutation_p.P153L|ANKS3_ENST00000446014.2_Missense_Mutation_p.P97L	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	226										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GGGCAGAGAGGGCGAGTAAGT	0.617																																						uc002cxj.1																			0					0						c.(676-678)CCC>CTC		ankyrin repeat and sterile alpha motif domain		G	LEU/PRO,LEU/PRO	1,4393	2.1+/-5.4	0,1,2196	153.0	108.0	123.0		356,677	3.8	0.1	16	dbSNP_134	123	0,8600		0,0,4300	no	missense,missense	ANKS3	NM_001242929.1,NM_133450.3	98,98	0,1,6496	AA,AG,GG		0.0,0.0228,0.0077	benign,benign	119/550,226/657	4764084	1,12993	2197	4300	6497	SO:0001583	missense	124401							g.chr16:4764084G>A	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.677C>T	16.37:g.4764084G>A	ENSP00000304586:p.Pro226Leu					ANKS3_uc002cxi.1_Missense_Mutation_p.P153L|ANKS3_uc002cxk.2_Missense_Mutation_p.P97L|ANKS3_uc002cxl.2_Missense_Mutation_p.P53L|ANKS3_uc010uxs.1_Missense_Mutation_p.P153L|ANKS3_uc002cxm.2_Missense_Mutation_p.P20L	p.P226L	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN			7	972	-			226					B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	ENST00000304283.4	37	c.677C>T	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383014	0.42207	2.28E-4	0.0	ENSG00000168096	ENST00000304283;ENST00000446014;ENST00000450067	T;T;T	0.45668	1.19;2.94;0.89	4.74	3.79	0.43588	Ankyrin repeat-containing domain (2);	0.373424	0.27478	N	0.019196	T	0.39860	0.1094	M	0.64997	1.995	0.21020	N	0.999802	B;B	0.18461	0.028;0.002	B;B	0.19946	0.027;0.002	T	0.39099	-0.9630	10	0.56958	D	0.05	-17.9973	10.0462	0.42188	0.0949:0.0:0.9051:0.0	.	20;226	Q6ZWA7;Q6ZW76	.;ANKS3_HUMAN	L	226;97;20	ENSP00000304586:P226L;ENSP00000406796:P97L;ENSP00000388270:P20L	ENSP00000304586:P226L	P	-	2	0	ANKS3	4704085	0.516000	0.26218	0.058000	0.19502	0.969000	0.65631	2.813000	0.48002	1.228000	0.43614	0.561000	0.74099	CCC		0.617	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450	
HAS3	3038	broad.mit.edu	37	16	69148326	69148326	+	Silent	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr16:69148326C>T	ENST00000306560.1	+	4	975	c.819C>T	c.(817-819)tgC>tgT	p.C273C	HAS3_ENST00000569188.1_Silent_p.C273C|HAS3_ENST00000219322.3_Intron	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	273					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		AGCGGGCCTGCCAGTCCTACT	0.552																																						uc010cfh.2																			0					0						c.(817-819)TGC>TGT		hyaluronan synthase 3 isoform a							130.0	123.0	125.0					16																	69148326		2198	4300	6498	SO:0001819	synonymous_variant	3038				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	g.chr16:69148326C>T	BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.819C>T	16.37:g.69148326C>T						HAS3_uc002ewk.2_Intron|HAS3_uc002ewl.2_Silent_p.C273C	p.C273C	NM_005329	NP_005320	O00219	HAS3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0694)	4	1043	+		Ovarian(137;0.101)	273			Cytoplasmic (Potential).		A8K5T5|Q8WTZ0|Q9NYP0	Silent	SNP	ENST00000306560.1	37	c.819C>T	CCDS10871.1																																																																																				0.552	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	NM_138612	
KRTAP4-4	84616	broad.mit.edu	37	17	39316492	39316492	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr17:39316492C>G	ENST00000390661.3	-	1	491	c.452G>C	c.(451-453)tGt>tCt	p.C151S		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	151	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].					keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CCTGGACACACAGCAGCTGGG	0.642																																						uc002hwc.2																			0					0						c.(451-453)TGT>TCT		keratin associated protein 4.4							39.0	46.0	44.0					17																	39316492		2196	4298	6494	SO:0001583	missense	84616					keratin filament		g.chr17:39316492C>G	AJ406936	CCDS11383.1	17q21.2	2013-06-25			ENSG00000171396	ENSG00000171396		"""Keratin associated proteins"""	16928	protein-coding gene	gene with protein product			"""keratin associated protein 4-13"""	KRTAP4-13		11279113	Standard	NM_032524		Approved	KAP4.4, KAP4.13	uc002hwc.3	Q9BYR3	OTTHUMG00000133428	ENST00000390661.3:c.452G>C	17.37:g.39316492C>G	ENSP00000375076:p.Cys151Ser						p.C151S	NM_032524	NP_115913	Q9BYR3	KRA44_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	492	-		Breast(137;0.000496)	151			26.|26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Q9BYU7	Missense_Mutation	SNP	ENST00000390661.3	37	c.452G>C	CCDS11383.1	.	.	.	.	.	.	.	.	.	.	.	11.60	1.687412	0.29962	.	.	ENSG00000171396	ENST00000390661	T	0.00609	6.24	4.8	4.8	0.61643	.	11.342700	0.01564	U	0.020227	T	0.02727	0.0082	M	0.89715	3.055	0.28816	N	0.897949	P	0.43788	0.817	P	0.47705	0.555	T	0.64101	-0.6486	10	0.15066	T	0.55	.	15.3581	0.74443	0.0:1.0:0.0:0.0	.	151	Q9BYR3	KRA44_HUMAN	S	151	ENSP00000375076:C151S	ENSP00000375076:C151S	C	-	2	0	KRTAP4-4	36570018	0.123000	0.22298	0.911000	0.35937	0.742000	0.42306	0.298000	0.19120	2.216000	0.71823	0.484000	0.47621	TGT		0.642	KRTAP4-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257291.1		
BRCA1	672	broad.mit.edu	37	17	41244612	41244612	+	Missense_Mutation	SNP	C	C	T	rs80356985		TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr17:41244612C>T	ENST00000357654.3	-	10	3054	c.2936G>A	c.(2935-2937)cGt>cAt	p.R979H	BRCA1_ENST00000346315.3_Missense_Mutation_p.R979H|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.R979H|BRCA1_ENST00000493795.1_Missense_Mutation_p.R932H|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.R683H|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.R979H|BRCA1_ENST00000591534.1_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	979					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGGTGGTATACGATATGGGTT	0.363			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												uc002icq.2			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	D|Mis|N|F|S	familial breast/ovarian cancer gene 1			E		breast|ovarian	ovarian		0				ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52						c.(2935-2937)CGT>CAT	Homologous_recombination	breast cancer 1, early onset isoform 1							93.0	94.0	94.0					17																	41244612		2203	4300	6503	SO:0001583	missense	672	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41244612C>T	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.2936G>A	17.37:g.41244612C>T	ENSP00000350283:p.Arg979His	TCGA Ovarian(2;0.000030)				BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.R908H|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.R932H|BRCA1_uc002ict.2_Missense_Mutation_p.R979H|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.R979H|BRCA1_uc002ide.1_Missense_Mutation_p.R810H|BRCA1_uc010cyy.1_Missense_Mutation_p.R979H|BRCA1_uc010whs.1_Missense_Mutation_p.R979H|BRCA1_uc010cyz.2_Missense_Mutation_p.R932H|BRCA1_uc010cza.2_Missense_Mutation_p.R953H|BRCA1_uc010wht.1_Missense_Mutation_p.R683H	p.R979H	NM_007294	NP_009225	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	3168	-		Breast(137;0.000717)	979					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.2936G>A	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.529481	0.00147	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795	T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	4.89	1.06	0.20224	.	1.074330	0.07211	N	0.859222	T	0.28333	0.0700	N	0.00052	-2.395	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0	T	0.43458	-0.9390	10	0.02654	T	1	.	0.6089	0.00757	0.3511:0.1585:0.1216:0.3688	.	979;938;979;979;979;979	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	H	979;979;979;979;683;979;932	ENSP00000350283:R979H;ENSP00000326002:R979H;ENSP00000246907:R979H;ENSP00000310938:R683H;ENSP00000418960:R979H;ENSP00000418775:R932H	ENSP00000310938:R683H	R	-	2	0	BRCA1	38498138	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.333000	0.07894	-0.329000	0.08527	-0.269000	0.10298	CGT		0.363	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294	
ITGA2B	3674	broad.mit.edu	37	17	42457990	42457990	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr17:42457990C>T	ENST00000262407.5	-	14	1448	c.1417G>A	c.(1417-1419)Gcc>Acc	p.A473T	ITGA2B_ENST00000377068.3_3'UTR|ITGA2B_ENST00000353281.4_Missense_Mutation_p.A473T	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	473					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.A473T(1)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	ACCTGGTTGGCCCCGTAAGCT	0.592																																						uc002igt.1																			1	Substitution - Missense(1)		kidney(1)	ovary(2)|lung(1)	3						c.(1417-1419)GCC>ACC		integrin alpha 2b preproprotein	Tirofiban(DB00775)						117.0	108.0	111.0					17																	42457990		2203	4300	6503	SO:0001583	missense	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42457990C>T		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.1417G>A	17.37:g.42457990C>T	ENSP00000262407:p.Ala473Thr					ITGA2B_uc002igu.1_5'UTR	p.A473T	NM_000419	NP_000410	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	14	1449	-		Prostate(33;0.0181)	473			Extracellular (Potential).|FG-GAP 7.		B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	c.1417G>A	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.014329	0.54468	.	.	ENSG00000005961	ENST00000262407;ENST00000353281	T;T	0.72282	-0.64;-0.64	5.02	5.02	0.67125	.	0.230278	0.22047	N	0.065367	T	0.74152	0.3679	L	0.52364	1.645	0.80722	D	1	D	0.69078	0.997	P	0.52957	0.714	T	0.71196	-0.4664	10	0.28530	T	0.3	.	17.2798	0.87125	0.0:1.0:0.0:0.0	.	473	P08514	ITA2B_HUMAN	T	473	ENSP00000262407:A473T;ENSP00000340536:A473T	ENSP00000262407:A473T	A	-	1	0	ITGA2B	39813516	0.546000	0.26457	0.226000	0.23910	0.109000	0.19521	4.737000	0.62066	2.613000	0.88420	0.655000	0.94253	GCC		0.592	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1		
LRRC30	339291	broad.mit.edu	37	18	7231386	7231386	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr18:7231386C>T	ENST00000383467.2	+	1	264	c.250C>T	c.(250-252)Cgg>Tgg	p.R84W		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	84										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CAACCAGCTCCGGGTTCTCCC	0.587																																						uc010wzk.1																			0				ovary(1)|liver(1)	2						c.(250-252)CGG>TGG		leucine rich repeat containing 30							52.0	55.0	54.0					18																	7231386		1918	4139	6057	SO:0001583	missense	339291							g.chr18:7231386C>T		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.250C>T	18.37:g.7231386C>T	ENSP00000372959:p.Arg84Trp						p.R84W	NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN			1	250	+			84			LRR 1.			Missense_Mutation	SNP	ENST00000383467.2	37	c.250C>T	CCDS42409.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.063255	0.55432	.	.	ENSG00000206422	ENST00000383467	T	0.09911	2.93	5.65	-0.148	0.13424	.	1.088850	0.06828	N	0.793417	T	0.19604	0.0471	L	0.52266	1.64	0.09310	N	1	D	0.71674	0.998	P	0.54815	0.761	T	0.33904	-0.9850	10	0.66056	D	0.02	.	9.3548	0.38159	0.2153:0.4325:0.3522:0.0	.	84	A6NM36	LRC30_HUMAN	W	84	ENSP00000372959:R84W	ENSP00000372959:R84W	R	+	1	2	LRRC30	7221386	0.000000	0.05858	0.043000	0.18650	0.992000	0.81027	-0.360000	0.07622	0.046000	0.15833	0.650000	0.86243	CGG		0.587	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678	
KHSRP	8570	broad.mit.edu	37	19	6420483	6420483	+	Splice_Site	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:6420483C>T	ENST00000398148.3	-	5	518		c.e5-1			NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein						gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.?(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						CATTGAAGTCCTGTAAAGAGA	0.567																																					Colon(55;593 1006 2067 9135 22980)	uc002mer.3																			1	Unknown(1)		endometrium(1)	skin(1)	1						c.e5-1		KH-type splicing regulatory protein							59.0	64.0	62.0					19																	6420483		2054	4204	6258	SO:0001630	splice_region_variant	8570				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding	g.chr19:6420483C>T	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"""FUSE binding protein 2"""	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.426-1G>A	19.37:g.6420483C>T							p.R142_splice	NM_003685	NP_003676	Q92945	FUBP2_HUMAN			5	536	-								O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Splice_Site	SNP	ENST00000398148.3	37	c.426_splice	CCDS45936.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902609	0.33628	.	.	ENSG00000088247	ENST00000398148;ENST00000201886;ENST00000424942	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7785	0.69749	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KHSRP	6371483	1.000000	0.71417	0.992000	0.48379	0.304000	0.27724	3.682000	0.54656	2.446000	0.82766	0.563000	0.77884	.		0.567	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1		Intron
ZNF136	7695	broad.mit.edu	37	19	12298584	12298584	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:12298584G>A	ENST00000343979.4	+	4	1531	c.1391G>A	c.(1390-1392)cGa>cAa	p.R464Q	ZNF136_ENST00000398616.2_Missense_Mutation_p.R398Q	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	464					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						AACTCCTTTCGAACACATGAA	0.393																																						uc002mti.2																			0				ovary(1)|pancreas(1)	2						c.(1390-1392)CGA>CAA		zinc finger protein 136							74.0	70.0	71.0					19																	12298584		2203	4300	6503	SO:0001583	missense	7695				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:12298584G>A	U09367	CCDS32916.1	19p13.2	2013-01-08	2006-06-13		ENSG00000196646	ENSG00000196646		"""Zinc fingers, C2H2-type"", ""-"""	12920	protein-coding gene	gene with protein product		604078	"""zinc finger protein 136 (clone pHZ-20)"""			7557990	Standard	NM_003437		Approved	pHZ-20	uc002mti.3	P52737	OTTHUMG00000156429	ENST00000343979.4:c.1391G>A	19.37:g.12298584G>A	ENSP00000344162:p.Arg464Gln					ZNF136_uc010xmh.1_Missense_Mutation_p.R398Q	p.R464Q	NM_003437	NP_003428	P52737	ZN136_HUMAN			4	1491	+			464			C2H2-type 12.			Missense_Mutation	SNP	ENST00000343979.4	37	c.1391G>A	CCDS32916.1	.	.	.	.	.	.	.	.	.	.	G	3.448	-0.112660	0.06881	.	.	ENSG00000196646	ENST00000343979;ENST00000398616	T;T	0.35789	1.29;1.29	1.4	-0.838	0.10762	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09949	0.0244	N	0.04705	-0.18	0.09310	N	1	P	0.43938	0.822	B	0.28916	0.096	T	0.14227	-1.0480	8	.	.	.	.	0.2395	0.00190	0.322:0.2024:0.2717:0.2039	.	464	P52737	ZN136_HUMAN	Q	464;398	ENSP00000344162:R464Q;ENSP00000381617:R398Q	.	R	+	2	0	ZNF136	12159584	0.000000	0.05858	0.001000	0.08648	0.996000	0.88848	-5.663000	0.00106	-0.210000	0.10140	0.655000	0.94253	CGA		0.393	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344151.2	NM_003437	
RASAL3	64926	broad.mit.edu	37	19	15574925	15574925	+	Missense_Mutation	SNP	C	C	T	rs201278861		TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:15574925C>T	ENST00000343625.7	-	2	330	c.245G>A	c.(244-246)cGc>cAc	p.R82H		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	82					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GAGTCGAAGGCGACTGGTCCG	0.672																																						uc002nbe.2																			0					0						c.(244-246)CGC>CAC		RAS protein activator like 3							19.0	22.0	21.0					19																	15574925		2001	4174	6175	SO:0001583	missense	64926				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr19:15574925C>T		CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.245G>A	19.37:g.15574925C>T	ENSP00000341905:p.Arg82His						p.R82H	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN			2	331	-			82					Q8N2T9|Q9H735	Missense_Mutation	SNP	ENST00000343625.7	37	c.245G>A	CCDS46006.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.810290	0.32053	.	.	ENSG00000105122	ENST00000343625	T	0.26810	1.71	4.11	3.06	0.35304	.	0.000000	0.32548	U	0.005960	T	0.24044	0.0582	M	0.62723	1.935	0.33498	D	0.589532	B	0.18310	0.027	B	0.12156	0.007	T	0.21280	-1.0250	10	0.38643	T	0.18	.	8.428	0.32739	0.0:0.8856:0.0:0.1144	.	82	Q86YV0	RASL3_HUMAN	H	82	ENSP00000341905:R82H	ENSP00000341905:R82H	R	-	2	0	RASAL3	15435925	0.995000	0.38212	0.916000	0.36221	0.339000	0.28857	2.074000	0.41529	1.029000	0.39812	0.462000	0.41574	CGC		0.672	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461331.3	NM_022904	
USHBP1	83878	broad.mit.edu	37	19	17375061	17375061	+	Missense_Mutation	SNP	A	A	C			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:17375061A>C	ENST00000431146.2	-	2	149	c.5T>G	c.(4-6)cTc>cGc	p.L2R	USHBP1_ENST00000598570.1_5'UTR|USHBP1_ENST00000252597.3_Silent_p.A16A					Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TTACGGGTGGAGCATGCCTCC	0.647																																						uc002nfs.1																			0				ovary(1)	1						c.(46-48)GCT>GCG		Usher syndrome 1C binding protein 1							58.0	49.0	52.0					19																	17375061		2203	4300	6503	SO:0001583	missense	83878						PDZ domain binding	g.chr19:17375061A>C	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000431146.2:c.5T>G	19.37:g.17375061A>C	ENSP00000407902:p.Leu2Arg					USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.L2R|USHBP1_uc010eam.1_5'UTR	p.A16A	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN			2	161	-			16						Silent	SNP	ENST00000431146.2	37	c.48T>G		.	.	.	.	.	.	.	.	.	.	A	11.69	1.714570	0.30413	.	.	ENSG00000130307	ENST00000431146	T	0.20069	2.1	3.75	1.45	0.22620	.	.	.	.	.	T	0.14399	0.0348	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.27502	-1.0072	8	0.87932	D	0	2.4843	4.4282	0.11515	0.598:0.2047:0.0:0.1974	.	2	B4DUE8	.	R	2	ENSP00000407902:L2R	ENSP00000407902:L2R	L	-	2	0	USHBP1	17236061	0.000000	0.05858	0.000000	0.03702	0.271000	0.26615	-0.638000	0.05452	0.089000	0.17243	0.379000	0.24179	CTC		0.647	USHBP1-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463329.1	NM_031941	
MAG	4099	broad.mit.edu	37	19	35786738	35786738	+	Missense_Mutation	SNP	G	G	A	rs201990546		TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:35786738G>A	ENST00000392213.3	+	4	428	c.269G>A	c.(268-270)cGc>cAc	p.R90H	MAG_ENST00000361922.4_Missense_Mutation_p.R90H|MAG_ENST00000597035.1_Intron|MAG_ENST00000537831.2_Missense_Mutation_p.R65H	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	90	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)	p.R90H(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGCCGCAGCCGCCTCCTGGGG	0.652																																						uc002nyy.1																			2	Substitution - Missense(2)		large_intestine(2)	breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7						c.(268-270)CGC>CAC		myelin associated glycoprotein isoform a		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	82.0	94.0	90.0		194,269,269	5.3	1.0	19		90	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	MAG	NM_001199216.1,NM_002361.3,NM_080600.2	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	65/602,90/627,90/583	35786738	1,13005	2203	4300	6503	SO:0001583	missense	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35786738G>A	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.269G>A	19.37:g.35786738G>A	ENSP00000376048:p.Arg90His					MAG_uc002nyx.1_Missense_Mutation_p.R90H|MAG_uc010eds.1_Missense_Mutation_p.R65H|MAG_uc002nyz.1_Missense_Mutation_p.R90H	p.R90H	NM_002361	NP_002352	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		4	418	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	90			Ig-like V-type.|Extracellular (Potential).		B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	ENST00000392213.3	37	c.269G>A	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732752	0.89482	0.0	1.16E-4	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	T;T;T	0.45668	0.89;0.89;0.89	5.31	5.31	0.75309	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.238219	0.41605	D	0.000855	T	0.32133	0.0819	N	0.11201	0.11	0.35842	D	0.826114	D;D;D	0.76494	0.996;0.999;0.998	P;P;P	0.57101	0.662;0.813;0.813	T	0.18304	-1.0341	10	0.06891	T	0.86	.	10.3226	0.43775	0.0907:0.0:0.9093:0.0	.	127;90;90	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	H	127;90;90;65	ENSP00000355234:R90H;ENSP00000376048:R90H;ENSP00000440695:R65H	ENSP00000262624:R127H	R	+	2	0	MAG	40478578	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.042000	0.49815	2.650000	0.89964	0.442000	0.29010	CGC		0.652	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600	
PLD3	23646	broad.mit.edu	37	19	40872766	40872766	+	Silent	SNP	C	C	T	rs375652785		TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:40872766C>T	ENST00000409587.1	+	5	586	c.189C>T	c.(187-189)ggC>ggT	p.G63G	PLD3_ENST00000356508.5_Silent_p.G63G|PLD3_ENST00000409419.1_Silent_p.G63G|PLD3_ENST00000409281.1_Silent_p.G63G|PLD3_ENST00000409735.4_Silent_p.G63G			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	63					cell death (GO:0008219)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phospholipase D activity (GO:0004630)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GGGAATACGGCGACTTGCATC	0.627																																						uc002onm.3																			0				skin(2)|ovary(1)	3						c.(187-189)GGC>GGT		phospholipase D3		C	,	1,4405	2.1+/-5.4	0,1,2202	73.0	69.0	71.0		189,189	-5.5	0.9	19		71	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PLD3	NM_001031696.2,NM_012268.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	63/491,63/491	40872766	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23646				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding	g.chr19:40872766C>T	BC000553	CCDS33027.1	19q13.2	2014-03-14	2005-05-20		ENSG00000105223	ENSG00000105223			17158	protein-coding gene	gene with protein product		615698	"""phospholipase D3"""			9140189, 15794758	Standard	XM_005258704		Approved	HU-K4	uc002onj.4	Q8IV08	OTTHUMG00000152736	ENST00000409587.1:c.189C>T	19.37:g.40872766C>T						PLD3_uc002onj.3_Silent_p.G63G|PLD3_uc002onk.3_Silent_p.G63G|PLD3_uc002onl.3_Silent_p.G63G|PLD3_uc002onn.2_Silent_p.G63G|PLD3_uc002ono.2_Nonsense_Mutation_p.R93*	p.G63G	NM_001031696	NP_001026866	Q8IV08	PLD3_HUMAN	Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)		5	587	+			63			Lumenal (Potential).		Q92853|Q9BW87	Silent	SNP	ENST00000409587.1	37	c.189C>T	CCDS33027.1																																																																																				0.627	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327721.1	NM_012268	
PSG1	5669	broad.mit.edu	37	19	43372476	43372476	+	Silent	SNP	T	T	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:43372476T>A	ENST00000436291.2	-	5	1136	c.1020A>T	c.(1018-1020)tcA>tcT	p.S340S	PSG1_ENST00000403380.3_Silent_p.S247S|PSG1_ENST00000595124.1_Silent_p.S247S|PSG1_ENST00000595356.1_Silent_p.S340S|PSG1_ENST00000244296.2_Silent_p.S340S|PSG1_ENST00000312439.6_Silent_p.S340S	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	340	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				AATAGGTGAATGAAGGGTAAA	0.468																																						uc002ovb.2																			0				ovary(2)	2						c.(1018-1020)TCA>TCT		pregnancy specific beta-1-glycoprotein 1							50.0	58.0	56.0					19																	43372476		2198	4278	6476	SO:0001819	synonymous_variant	5669				female pregnancy	extracellular region		g.chr19:43372476T>A		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.1020A>T	19.37:g.43372476T>A						PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_Intron|PSG1_uc002our.1_Silent_p.S340S|PSG1_uc010eio.1_Silent_p.S340S|PSG1_uc002oux.1_Silent_p.S269S|PSG1_uc002ouy.1_Silent_p.S247S|PSG1_uc002ouz.1_Silent_p.S340S|PSG1_uc002ova.1_Silent_p.S247S|PSG1_uc002ovc.2_Silent_p.S247S|PSG1_uc002ovd.1_Silent_p.S340S	p.S340S	NM_006905	NP_008836	P11464	PSG1_HUMAN			5	1158	-		Prostate(69;0.00682)	340			Ig-like C2-type 3.		O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Silent	SNP	ENST00000436291.2	37	c.1020A>T	CCDS54275.1																																																																																				0.468	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1		
NLRP5	126206	broad.mit.edu	37	19	56538863	56538863	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:56538863G>A	ENST00000390649.3	+	7	1264	c.1264G>A	c.(1264-1266)Gtg>Atg	p.V422M		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	422	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTCAGAGGTCGTGTCTCCCCG	0.547																																						uc002qmj.2																			0				ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(1264-1266)GTG>ATG		NACHT, LRR and PYD containing protein 5							48.0	50.0	50.0					19																	56538863		2085	4205	6290	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56538863G>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1264G>A	19.37:g.56538863G>A	ENSP00000375063:p.Val422Met					NLRP5_uc002qmi.2_Missense_Mutation_p.V403M	p.V422M	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	1264	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	422			NACHT.		A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.1264G>A	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	9.233	1.036335	0.19669	.	.	ENSG00000171487	ENST00000390649	T	0.79033	-1.23	3.35	-6.28	0.02020	.	2.215120	0.02713	N	0.113073	T	0.62441	0.2428	N	0.20986	0.625	0.09310	N	1	P	0.44478	0.836	B	0.40477	0.33	T	0.61549	-0.7040	10	0.46703	T	0.11	.	7.4213	0.27073	0.2261:0.5853:0.1886:0.0	.	422	P59047	NALP5_HUMAN	M	422	ENSP00000375063:V422M	ENSP00000375063:V422M	V	+	1	0	NLRP5	61230675	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.719000	0.01873	-1.046000	0.03246	-0.165000	0.13383	GTG		0.547	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447	
ZNF470	388566	broad.mit.edu	37	19	57088760	57088760	+	Silent	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:57088760C>T	ENST00000330619.8	+	6	1649	c.963C>T	c.(961-963)ttC>ttT	p.F321F	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Silent_p.F321F	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	321					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		ATAAAGCATTCAGCCAGCTTG	0.448																																						uc002qnl.3																			0				ovary(1)|pancreas(1)	2						c.(961-963)TTC>TTT		zinc finger protein 470							72.0	68.0	69.0					19																	57088760		2203	4300	6503	SO:0001819	synonymous_variant	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57088760C>T	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.963C>T	19.37:g.57088760C>T						ZNF470_uc010etn.2_Intron	p.F321F	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	6	1639	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	321			C2H2-type 4.		A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Silent	SNP	ENST00000330619.8	37	c.963C>T	CCDS33122.1																																																																																				0.448	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668	
LPIN1	23175	broad.mit.edu	37	2	11911528	11911528	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr2:11911528C>T	ENST00000256720.2	+	4	412	c.319C>T	c.(319-321)Ccc>Tcc	p.P107S	LPIN1_ENST00000449576.2_Missense_Mutation_p.P156S|LPIN1_ENST00000396098.1_Missense_Mutation_p.P113S|LPIN1_ENST00000396099.1_Missense_Mutation_p.P113S|LPIN1_ENST00000425416.2_Missense_Mutation_p.P113S	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	107	N-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.P107S(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GGCCACCTCCCCCATCCTGTC	0.517																																						uc010yjn.1																			1	Substitution - Missense(1)		kidney(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(319-321)CCC>TCC		lipin 1							61.0	66.0	64.0					2																	11911528		2203	4300	6503	SO:0001583	missense	23175				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	g.chr2:11911528C>T	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.319C>T	2.37:g.11911528C>T	ENSP00000256720:p.Pro107Ser					LPIN1_uc010yjm.1_Missense_Mutation_p.P156S|LPIN1_uc002rbt.2_Missense_Mutation_p.P107S|LPIN1_uc002rbs.2_Missense_Mutation_p.P107S	p.P107S	NM_145693	NP_663731	Q14693	LPIN1_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	5	593	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		107			N-LIP.		A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	c.319C>T	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	C	32	5.160874	0.94727	.	.	ENSG00000134324	ENST00000449576;ENST00000396098;ENST00000396099;ENST00000425416;ENST00000256720	T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23	5.8	5.8	0.92144	Lipin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89532	0.6742	M	0.82323	2.585	0.80722	D	1	D;D;D	0.76494	0.998;0.99;0.999	D;D;D	0.79108	0.954;0.943;0.992	D	0.89715	0.3915	10	0.62326	D	0.03	-22.2671	20.0609	0.97674	0.0:1.0:0.0:0.0	.	156;107;113	F5GY24;Q14693;A8MU38	.;LPIN1_HUMAN;.	S	156;113;113;113;107	ENSP00000397908:P156S;ENSP00000379405:P113S;ENSP00000379406:P113S;ENSP00000401522:P113S;ENSP00000256720:P107S	ENSP00000256720:P107S	P	+	1	0	LPIN1	11828979	1.000000	0.71417	0.998000	0.56505	0.806000	0.45545	7.395000	0.79876	2.755000	0.94549	0.655000	0.94253	CCC		0.517	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693	
MFSD2B	388931	broad.mit.edu	37	2	24246495	24246495	+	Silent	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr2:24246495C>T	ENST00000406420.3	+	12	1228	c.1212C>T	c.(1210-1212)caC>caT	p.H404H	MFSD2B_ENST00000338315.4_Silent_p.H404H	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	404					transport (GO:0006810)	integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						AGCTGCAGCACCGTCACGGGC	0.622																																						uc002reo.1																			0				ovary(2)	2						c.(1210-1212)CAC>CAT		major facilitator superfamily domain containing							96.0	102.0	100.0					2																	24246495		2166	4246	6412	SO:0001819	synonymous_variant	388931				transport	integral to membrane		g.chr2:24246495C>T		CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.1212C>T	2.37:g.24246495C>T							p.H404H	NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN			12	1226	+			404					B5MC32	Silent	SNP	ENST00000406420.3	37	c.1212C>T	CCDS46228.1																																																																																				0.622	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	NM_001080473	
SCN1A	6323	broad.mit.edu	37	2	166897863	166897863	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr2:166897863C>T	ENST00000303395.4	-	13	2292	c.2293G>A	c.(2293-2295)Gtg>Atg	p.V765M	SCN1A_ENST00000423058.2_Missense_Mutation_p.V765M|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.V737M|SCN1A_ENST00000375405.3_Missense_Mutation_p.V754M|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	765					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGGTCCATCACAACCAGGTTG	0.403																																						uc010zcz.1																			0				ovary(6)|skin(6)|large_intestine(1)	13						c.(2260-2262)GTG>ATG		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						116.0	111.0	112.0					2																	166897863		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166897863C>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.2293G>A	2.37:g.166897863C>T	ENSP00000303540:p.Val765Met					SCN1A_uc002udo.3_Missense_Mutation_p.V634M|SCN1A_uc010fpk.2_Missense_Mutation_p.V606M	p.V754M	NM_006920	NP_008851	P35498	SCN1A_HUMAN			13	2278	-			765			Helical; Name=S1 of repeat II; (By similarity).|II.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.2260G>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590459	0.86851	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.97688	-4.49;-4.49;-4.45;-4.42	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000014	D	0.98915	0.9632	M	0.86573	2.825	0.80722	D	1	D;D;P	0.76494	0.999;0.998;0.604	D;D;B	0.87578	0.998;0.995;0.342	D	0.99651	1.0991	10	0.87932	D	0	.	19.8328	0.96642	0.0:1.0:0.0:0.0	.	754;737;765	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	M	765;765;754;737	ENSP00000407030:V765M;ENSP00000303540:V765M;ENSP00000364554:V754M;ENSP00000386312:V737M	ENSP00000303540:V765M	V	-	1	0	SCN1A	166606109	1.000000	0.71417	0.992000	0.48379	0.884000	0.51177	7.773000	0.85462	2.758000	0.94735	0.591000	0.81541	GTG		0.403	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920	
PIKFYVE	200576	broad.mit.edu	37	2	209150648	209150648	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr2:209150648C>T	ENST00000264380.4	+	6	970	c.812C>T	c.(811-813)gCc>gTc	p.A271V	PIKFYVE_ENST00000392202.3_Missense_Mutation_p.A174V|PIKFYVE_ENST00000308862.6_Missense_Mutation_p.A185V|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.A271V	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	271					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GATGATTTGGCCTGGCAAAGG	0.403																																						uc002vcz.2																			0				ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						c.(811-813)GCC>GTC		phosphatidylinositol-3-phosphate 5-kinase type							98.0	104.0	102.0					2																	209150648		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209150648C>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.812C>T	2.37:g.209150648C>T	ENSP00000264380:p.Ala271Val					PIKFYVE_uc010fun.1_5'UTR|PIKFYVE_uc002vcy.1_Missense_Mutation_p.A271V|PIKFYVE_uc002vcv.2_Missense_Mutation_p.A174V|PIKFYVE_uc002vcw.2_Missense_Mutation_p.A271V|PIKFYVE_uc002vcx.2_Missense_Mutation_p.A185V	p.A271V	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			6	970	+			271					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.812C>T	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.988727	0.93106	.	.	ENSG00000115020	ENST00000392202;ENST00000264380;ENST00000407449;ENST00000308862;ENST00000452564	T;T;T	0.65364	1.59;-0.15;1.75	5.92	5.03	0.67393	.	0.138901	0.49916	D	0.000129	T	0.49064	0.1535	N	0.24115	0.695	0.42524	D	0.993012	B;B;B;B;B	0.32829	0.1;0.191;0.386;0.037;0.386	B;B;B;B;B	0.31101	0.014;0.045;0.085;0.034;0.124	T	0.44967	-0.9293	10	0.30078	T	0.28	-5.0696	16.9517	0.86247	0.0:0.8721:0.1279:0.0	.	271;271;185;271;174	Q9Y2I7;E9PDH4;Q9Y2I7-3;Q08AR7;Q9Y2I7-2	FYV1_HUMAN;.;.;.;.	V	174;271;271;185;271	ENSP00000264380:A271V;ENSP00000384356:A271V;ENSP00000405736:A271V	ENSP00000264380:A271V	A	+	2	0	PIKFYVE	208858893	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.133000	0.71682	1.473000	0.48159	0.655000	0.94253	GCC		0.403	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040	
TNS1	7145	broad.mit.edu	37	2	218713141	218713141	+	Missense_Mutation	SNP	G	G	A	rs147452506		TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr2:218713141G>A	ENST00000171887.4	-	17	2176	c.1724C>T	c.(1723-1725)aCg>aTg	p.T575M	TNS1_ENST00000480665.1_5'Flank|TNS1_ENST00000419504.1_Missense_Mutation_p.T575M|TNS1_ENST00000430930.1_Missense_Mutation_p.T575M	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	575					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CATGGGGGCCGTGTGGCCAGC	0.667																																						uc002vgt.2																			0				ovary(3)|breast(1)	4						c.(1723-1725)ACG>ATG		tensin		G	MET/THR	1,4403	2.1+/-5.4	0,1,2201	31.0	35.0	34.0		1724	-7.1	0.0	2	dbSNP_134	34	0,8594		0,0,4297	no	missense	TNS1	NM_022648.4	81	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	benign	575/1736	218713141	1,12997	2202	4297	6499	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218713141G>A	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1724C>T	2.37:g.218713141G>A	ENSP00000171887:p.Thr575Met					TNS1_uc002vgr.2_Missense_Mutation_p.T575M|TNS1_uc002vgs.2_Missense_Mutation_p.T575M|TNS1_uc010zjv.1_Missense_Mutation_p.T575M|TNS1_uc010fvj.1_Missense_Mutation_p.T643M|TNS1_uc010fvk.1_Missense_Mutation_p.T700M|TNS1_uc010fvi.1_Missense_Mutation_p.T262M	p.T575M	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	17	2122	-		Renal(207;0.0483)|Lung NSC(271;0.213)	575					Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.1724C>T	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	2.315	-0.356987	0.05138	2.27E-4	0.0	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903	D;D;D;D	0.93859	-2.81;-2.81;-2.81;-3.3	4.57	-7.1	0.01547	.	2.901980	0.00744	N	0.001039	T	0.82102	0.4964	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.25850	0.003;0.119;0.136;0.136;0.136	B;B;B;B;B	0.25405	0.003;0.06;0.022;0.022;0.022	T	0.75314	-0.3361	10	0.30854	T	0.27	.	4.2392	0.10640	0.5777:0.1344:0.1231:0.1648	.	575;629;575;575;575	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	M	575;575;575;700	ENSP00000171887:T575M;ENSP00000408724:T575M;ENSP00000406016:T575M;ENSP00000405460:T700M	ENSP00000171887:T575M	T	-	2	0	TNS1	218421386	0.000000	0.05858	0.000000	0.03702	0.188000	0.23474	-1.391000	0.02525	-1.445000	0.01948	-0.997000	0.02515	ACG		0.667	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648	
COL6A3	1293	broad.mit.edu	37	2	238303590	238303590	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr2:238303590G>C	ENST00000295550.4	-	3	801	c.349C>G	c.(349-351)Cag>Gag	p.Q117E	COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000346358.4_Missense_Mutation_p.Q117E|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000347401.3_Missense_Mutation_p.Q117E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	117	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTTCCAGTCTGATTGGTTCCC	0.453																																						uc002vwl.2																			0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(349-351)CAG>GAG		alpha 3 type VI collagen isoform 1 precursor							91.0	96.0	94.0					2																	238303590		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238303590G>C	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.349C>G	2.37:g.238303590G>C	ENSP00000295550:p.Gln117Glu					COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Intron|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.Q117E	p.Q117E	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	3	634	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	117			VWFA 1.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.349C>G	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	5.256	0.232643	0.09969	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000346358;ENST00000433762	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	4.81	0.0496	0.14290	von Willebrand factor, type A (3);	0.894418	0.09217	N	0.832364	T	0.63850	0.2546	N	0.12502	0.225	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.47459	-0.9116	10	0.25106	T	0.35	.	4.0441	0.09764	0.0927:0.4444:0.222:0.2409	.	117;117	E9PCV6;P12111	.;CO6A3_HUMAN	E	117	ENSP00000295550:Q117E;ENSP00000315609:Q117E;ENSP00000295546:Q117E;ENSP00000389539:Q117E	ENSP00000295550:Q117E	Q	-	1	0	COL6A3	237968329	1.000000	0.71417	0.990000	0.47175	0.438000	0.31896	1.495000	0.35627	0.067000	0.16545	-0.519000	0.04390	CAG		0.453	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
HDAC4	9759	broad.mit.edu	37	2	240061423	240061423	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr2:240061423G>A	ENST00000345617.3	-	9	1726	c.935C>T	c.(934-936)gCg>gTg	p.A312V	HDAC4_ENST00000553145.1_5'UTR|HDAC4_ENST00000543185.1_5'UTR|HDAC4_ENST00000541256.1_Missense_Mutation_p.A281V	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	312	Interaction with MEF2A.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		ACCGTTCTCCGCGCTGACGCT	0.662																																						uc002vyk.3																			0				breast(3)|skin(2)|ovary(1)	6						c.(934-936)GCG>GTG		histone deacetylase 4							80.0	83.0	82.0					2																	240061423		2203	4300	6503	SO:0001583	missense	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240061423G>A	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.935C>T	2.37:g.240061423G>A	ENSP00000264606:p.Ala312Val					HDAC4_uc010fyz.1_Missense_Mutation_p.A307V|HDAC4_uc010zoa.1_Missense_Mutation_p.A307V|HDAC4_uc010fza.2_Missense_Mutation_p.A312V|HDAC4_uc010fyy.2_Missense_Mutation_p.A264V|HDAC4_uc010znz.1_Missense_Mutation_p.A195V|HDAC4_uc010fzb.1_RNA	p.A312V	NM_006037	NP_006028	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	9	1727	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	312			Interaction with MEF2A.		Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	c.935C>T	CCDS2529.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.578|4.578	0.107349|0.107349	0.08780|0.08780	.|.	.|.	ENSG00000068024|ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000541256;ENST00000393621|ENST00000445704	T;T|.	0.60040|.	0.22;1.38|.	4.54|4.54	2.56|2.56	0.30785|0.30785	.|.	0.655824|.	0.15983|.	N|.	0.235203|.	T|T	0.33933|0.33933	0.0880|0.0880	L|L	0.28400|0.28400	0.85|0.85	0.18873|0.18873	N|N	0.999989|0.999989	B;B;B;B;B;B|.	0.30114|.	0.012;0.269;0.079;0.242;0.176;0.242|.	B;B;B;B;B;B|.	0.26693|.	0.004;0.072;0.049;0.033;0.022;0.022|.	T|T	0.21143|0.21143	-1.0254|-1.0254	9|5	.|.	.|.	.|.	.|.	10.1678|10.1678	0.42890|0.42890	0.0:0.1477:0.6994:0.1529|0.0:0.1477:0.6994:0.1529	.|.	307;195;281;281;280;312|.	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524|.	.;.;.;.;.;HDAC4_HUMAN|.	V|W	312;195;281;195|56	ENSP00000264606:A312V;ENSP00000443057:A281V|.	.|.	A|R	-|-	2|1	0|2	HDAC4|HDAC4	239726360|239726360	0.013000|0.013000	0.17824|0.17824	0.076000|0.076000	0.20297|0.20297	0.100000|0.100000	0.18952|0.18952	1.392000|1.392000	0.34486|0.34486	1.054000|1.054000	0.40438|0.40438	0.580000|0.580000	0.79431|0.79431	GCG|CGG		0.662	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037	
GGTLC1	92086	broad.mit.edu	37	20	23966561	23966561	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr20:23966561C>T	ENST00000335694.4	-	4	559	c.355G>A	c.(355-357)Ggc>Agc	p.G119S	GGTLC1_ENST00000286890.4_Missense_Mutation_p.G119S|GGTLC1_ENST00000278765.4_Missense_Mutation_p.G119S	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	119					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						CGGACCTGGCCGTCCTGGCCC	0.662																																						uc002wts.2																			0				ovary(1)	1						c.(355-357)GGC>AGC		gamma-glutamyltransferase light chain 1							77.0	87.0	84.0					20																	23966561		1511	2707	4218	SO:0001583	missense	92086						gamma-glutamyltransferase activity	g.chr20:23966561C>T	AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"""Gamma-glutamyltransferases"""	16437	protein-coding gene	gene with protein product		612338	"""gamma-glutamyltransferase-like activity 4"", ""gamma-glutamyltransferase-like activity 3"""	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.355G>A	20.37:g.23966561C>T	ENSP00000337587:p.Gly119Ser					GGTLC1_uc002wtu.2_Missense_Mutation_p.G119S	p.G119S	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN			4	488	-			119					D3DW43|Q08246	Missense_Mutation	SNP	ENST00000335694.4	37	c.355G>A	CCDS13163.1	.	.	.	.	.	.	.	.	.	.	c	15.39	2.818661	0.50633	.	.	ENSG00000149435	ENST00000286890;ENST00000278765;ENST00000335694	T;T;T	0.10763	2.84;2.84;2.84	0.844	-0.674	0.11369	.	0.369500	0.27236	N	0.020288	T	0.18045	0.0433	M	0.73598	2.24	0.23440	N	0.997678	D	0.67145	0.996	P	0.55667	0.781	T	0.06445	-1.0826	10	0.62326	D	0.03	-17.3328	3.4434	0.07472	0.0:0.3417:0.0:0.6583	.	119	Q9BX51	GGTL1_HUMAN	S	119	ENSP00000286890:G119S;ENSP00000278765:G119S;ENSP00000337587:G119S	ENSP00000278765:G119S	G	-	1	0	GGTLC1	23914561	0.996000	0.38824	0.165000	0.22776	0.187000	0.23431	1.299000	0.33424	0.088000	0.17205	0.089000	0.15464	GGC		0.662	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2	
CDH22	64405	broad.mit.edu	37	20	44841697	44841697	+	Silent	SNP	G	G	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr20:44841697G>A	ENST00000372262.3	-	5	1369	c.969C>T	c.(967-969)ggC>ggT	p.G323G	CDH22_ENST00000537909.1_Silent_p.G323G|CDH22_ENST00000474438.1_5'UTR	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	323	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				ACACATCGCCGCCGCTGCTGC	0.592																																						uc002xrm.2																			0				ovary(4)|skin(1)	5						c.(967-969)GGC>GGT		cadherin 22 precursor							163.0	99.0	121.0					20																	44841697		2203	4300	6503	SO:0001819	synonymous_variant	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44841697G>A	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.969C>T	20.37:g.44841697G>A						CDH22_uc010ghk.1_Silent_p.G323G|CDH22_uc002xrn.1_Silent_p.G74G	p.G323G	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN			5	1370	-		Myeloproliferative disorder(115;0.0122)	323			Extracellular (Potential).|Cadherin 3.		B9EGK7|O43205	Silent	SNP	ENST00000372262.3	37	c.969C>T	CCDS13395.1																																																																																				0.592	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248	
RIMBP3B	440804	broad.mit.edu	37	22	21742742	21742742	+	Missense_Mutation	SNP	C	C	G	rs548074561		TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr22:21742742C>G	ENST00000434111.1	+	1	5080	c.4595C>G	c.(4594-4596)cCg>cGg	p.P1532R	SCARNA17_ENST00000516211.1_RNA|SCARNA18_ENST00000516505.1_RNA|RN7SKP63_ENST00000363187.1_RNA	NM_001128635.1	NP_001122107.1	A6NNM3	RIM3B_HUMAN	RIMS binding protein 3B	1532																	TGGCGTTCTCCGGCCCAAGGG	0.627																																						uc002zuq.3																			0					0						c.(4594-4596)CCG>CGG		RIMS binding protein 3B							60.0	74.0	72.0					22																	21742742		95	597	692	SO:0001583	missense	150221							g.chr22:21742742C>G		CCDS46668.1	22q11.21	2008-10-23			ENSG00000196934	ENSG00000274600			33891	protein-coding gene	gene with protein product		612700				17855024	Standard	NM_001128635		Approved			A6NNM3	OTTHUMG00000150819	ENST00000434111.1:c.4595C>G	22.37:g.21742742C>G	ENSP00000407925:p.Pro1532Arg						p.P1532R	NM_001128635	NP_001122107					1	4703	+									Missense_Mutation	SNP	ENST00000434111.1	37	c.4595C>G	CCDS46668.1	.	.	.	.	.	.	.	.	.	.	C	3.318	-0.139289	0.06669	.	.	ENSG00000196934	ENST00000434111;ENST00000357029	T	0.17854	2.25	3.01	-1.37	0.09056	.	0.501522	0.19530	N	0.112068	T	0.22936	0.0554	L	0.60455	1.87	0.09310	N	0.999998	D	0.57571	0.98	P	0.56865	0.808	T	0.10245	-1.0638	10	0.32370	T	0.25	-3.0659	5.8044	0.18432	0.0:0.4403:0.0:0.5597	.	1438	A6NNM3	RIM3B_HUMAN	R	1532;1438	ENSP00000407925:P1532R	ENSP00000349531:P1438R	P	+	2	0	RIMBP3B	20072742	0.000000	0.05858	0.001000	0.08648	0.036000	0.12997	-0.102000	0.10956	-0.110000	0.12022	0.454000	0.30748	CCG		0.627	RIMBP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320196.2	XM_036936	
FGD5	152273	broad.mit.edu	37	3	14862435	14862435	+	Silent	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr3:14862435C>T	ENST00000285046.5	+	1	1967	c.1857C>T	c.(1855-1857)ttC>ttT	p.F619F	FGD5_ENST00000543601.1_Silent_p.F378F	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	619					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CACCTCCTTTCGACCTGGCCT	0.557																																						uc003bzc.2																			0				ovary(3)|kidney(1)|pancreas(1)	5						c.(1855-1857)TTC>TTT		FYVE, RhoGEF and PH domain containing 5							52.0	53.0	52.0					3																	14862435		1960	4128	6088	SO:0001819	synonymous_variant	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14862435C>T	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1857C>T	3.37:g.14862435C>T						FGD5_uc011avk.1_Silent_p.F619F	p.F619F	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			1	1967	+			619					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	ENST00000285046.5	37	c.1857C>T	CCDS46767.1																																																																																				0.557	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536	
SLC6A20	54716	broad.mit.edu	37	3	45812818	45812818	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr3:45812818C>T	ENST00000358525.4	-	6	941	c.826G>A	c.(826-828)Gcc>Acc	p.A276T	SLC6A20_ENST00000456124.2_Missense_Mutation_p.A276T|SLC6A20_ENST00000353278.4_Missense_Mutation_p.A239T	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	276					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)	p.A239T(1)|p.A276T(1)		breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		ACGATGATGGCGTGCTTCTGG	0.517																																						uc011bai.1																			2	Substitution - Missense(2)		large_intestine(2)	ovary(2)	2						c.(826-828)GCC>ACC		solute carrier family 6, member 20 isoform 1							215.0	172.0	186.0					3																	45812818		2203	4300	6503	SO:0001583	missense	54716				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr3:45812818C>T	AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"""Solute carriers"""	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.826G>A	3.37:g.45812818C>T	ENSP00000346298:p.Ala276Thr					SLC6A20_uc003cow.2_5'UTR|SLC6A20_uc011baj.1_Missense_Mutation_p.A239T	p.A276T	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)	6	950	-			276			Cytoplasmic (Potential).		A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Missense_Mutation	SNP	ENST00000358525.4	37	c.826G>A	CCDS43077.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629099	0.67015	.	.	ENSG00000163817	ENST00000353278;ENST00000358525;ENST00000456124;ENST00000413781	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	5.2	4.33	0.51752	.	0.056297	0.64402	N	0.000001	T	0.76047	0.3933	L	0.56280	1.765	0.52099	D	0.99994	B;B	0.26120	0.117;0.142	B;B	0.23018	0.025;0.043	T	0.73225	-0.4050	10	0.46703	T	0.11	.	13.5036	0.61471	0.0:0.9243:0.0:0.0757	.	239;276	Q9NP91-2;Q9NP91	.;S6A20_HUMAN	T	239;276;276;229	ENSP00000296133:A239T;ENSP00000346298:A276T;ENSP00000404310:A276T;ENSP00000395506:A229T	ENSP00000296133:A239T	A	-	1	0	SLC6A20	45787822	1.000000	0.71417	0.999000	0.59377	0.859000	0.49053	5.730000	0.68546	1.190000	0.43042	0.467000	0.42956	GCC		0.517	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	NM_020208	
PHLDB2	90102	broad.mit.edu	37	3	111603533	111603533	+	Silent	SNP	A	A	C			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr3:111603533A>C	ENST00000431670.2	+	2	1020	c.609A>C	c.(607-609)tcA>tcC	p.S203S	PHLDB2_ENST00000393923.3_Silent_p.S230S|PHLDB2_ENST00000477695.1_Silent_p.S203S|PHLDB2_ENST00000393925.3_Silent_p.S203S|PHLDB2_ENST00000412622.1_Silent_p.S203S|PHLDB2_ENST00000481953.1_Silent_p.S203S|PHLDB2_ENST00000478922.1_Silent_p.S203S	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	203						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GCATGCCTTCAAGCCCAAAGC	0.532																																						uc010hqa.2																			0				ovary(4)|skin(2)	6						c.(607-609)TCA>TCC		pleckstrin homology-like domain, family B,							54.0	54.0	54.0					3																	111603533		2203	4300	6503	SO:0001819	synonymous_variant	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111603533A>C		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.609A>C	3.37:g.111603533A>C						PHLDB2_uc003dyc.2_Silent_p.S230S|PHLDB2_uc003dyd.2_Silent_p.S203S|PHLDB2_uc003dyg.2_Silent_p.S203S|PHLDB2_uc003dyh.2_Silent_p.S203S|PHLDB2_uc003dye.3_Silent_p.S203S|PHLDB2_uc003dyf.3_Silent_p.S203S	p.S203S	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN			2	1020	+			203					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	ENST00000431670.2	37	c.609A>C	CCDS46886.1																																																																																				0.532	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753	
FIP1L1	81608	broad.mit.edu	37	4	54294195	54294195	+	Splice_Site	SNP	T	T	C			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr4:54294195T>C	ENST00000337488.6	+	13	1213	c.1019T>C	c.(1018-1020)gTc>gCc	p.V340A	FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000358575.5_Splice_Site_p.V325A|FIP1L1_ENST00000306932.6_Splice_Site_p.V266A|FIP1L1_ENST00000507922.1_Splice_Site_p.V325A	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	340	Necessary for stimulating PAPOLA activity.	Breakpoint for interstitial deletion to form the FIP1L1-PDGFRA fusion protein.			mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TAATTTTAGGTCCTTTCTGAA	0.353			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	uc003gzy.2				Dom	yes		4	4q12	81608	T	FIP1 like 1 (S. cerevisiae)			L	PDGFRA		idiopathic hypereosinophilic syndrome		0				ovary(1)|skin(1)	2						c.(1018-1020)GTC>GCC		FIP1 like 1 isoform 1							82.0	80.0	81.0					4																	54294195		2203	4299	6502	SO:0001630	splice_region_variant	81608				mRNA processing	nucleus	RNA binding	g.chr4:54294195T>C	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1018-1T>C	4.37:g.54294195T>C						PDGFRA_uc003haa.2_Intron|FIP1L1_uc003gzx.3_Missense_Mutation_p.V325A|FIP1L1_uc011bzt.1_Missense_Mutation_p.V304A|FIP1L1_uc011bzu.1_Missense_Mutation_p.V325A|FIP1L1_uc003gzz.2_Missense_Mutation_p.V266A|FIP1L1_uc003hab.2_Missense_Mutation_p.V305A|FIP1L1_uc003hac.2_Missense_Mutation_p.V85A|FIP1L1_uc010ign.2_RNA|FIP1L1_uc003had.2_5'UTR|FIP1L1_uc003hae.2_5'UTR	p.V340A	NM_030917	NP_112179	Q6UN15	FIP1_HUMAN	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		13	1205	+			340			Necessary for stimulating PAPOLA activity.	Breakpoint for interstitial deletion to form the FIP1L1-PDGFRA fusion protein.	B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	ENST00000337488.6	37	c.1019T>C	CCDS3491.1	.	.	.	.	.	.	.	.	.	.	T	19.03	3.748847	0.69533	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000507922;ENST00000306932	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000011	T	0.63438	0.2511	L	0.40543	1.245	0.80722	D	1	P;D;P;P;B;P	0.69078	0.708;0.997;0.584;0.954;0.434;0.812	B;D;B;D;B;P	0.78314	0.425;0.991;0.243;0.954;0.243;0.699	T	0.60265	-0.7297	10	0.30854	T	0.27	-13.4789	15.5479	0.76123	0.0:0.0:0.0:1.0	.	325;108;325;266;340;325	G3XAD6;B4DTW7;B4DIR3;Q6UN15-3;Q6UN15;Q6UN15-4	.;.;.;.;FIP1_HUMAN;.	A	340;325;325;266	ENSP00000336752:V340A;ENSP00000351383:V325A;ENSP00000425456:V325A;ENSP00000302993:V266A	ENSP00000302993:V266A	V	+	2	0	FIP1L1	53988952	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	5.422000	0.66453	2.123000	0.65237	0.460000	0.39030	GTC		0.353	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917	Missense_Mutation
SOWAHB	345079	broad.mit.edu	37	4	77818025	77818025	+	Silent	SNP	G	G	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr4:77818025G>A	ENST00000334306.2	-	1	977	c.978C>T	c.(976-978)cgC>cgT	p.R326R		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	326																	CCGACCAGGCGCGGATAGGGC	0.657																																						uc003hki.2																			0					0						c.(976-978)CGC>CGT		ankyrin repeat domain 56							28.0	36.0	34.0					4																	77818025		2203	4299	6502	SO:0001819	synonymous_variant	345079							g.chr4:77818025G>A		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"""Ankyrin repeat domain containing"""	32958	protein-coding gene	gene with protein product			"""ankyrin repeat domain 56"""	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.978C>T	4.37:g.77818025G>A							p.R326R	NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN			1	978	-			326					B2RP29	Silent	SNP	ENST00000334306.2	37	c.978C>T	CCDS34017.1																																																																																				0.657	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870	
TLR2	7097	broad.mit.edu	37	4	154625003	154625003	+	Missense_Mutation	SNP	G	G	A	rs377022229		TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr4:154625003G>A	ENST00000260010.6	+	1	2352	c.944G>A	c.(943-945)cGg>cAg	p.R315Q		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	315					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	TTAACAATCCGGAGGCTGCAT	0.338																																						uc003inq.2																			0				ovary(1)|lung(1)|breast(1)	3						c.(943-945)CGG>CAG		toll-like receptor 2 precursor		G	GLN/ARG	0,4406		0,0,2203	67.0	70.0	69.0		944	5.2	0.1	4		69	2,8594	2.2+/-6.3	0,2,4296	no	missense	TLR2	NM_003264.3	43	0,2,6499	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	315/785	154625003	2,13000	2203	4298	6501	SO:0001583	missense	7097				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	g.chr4:154625003G>A	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.944G>A	4.37:g.154625003G>A	ENSP00000260010:p.Arg315Gln					TLR2_uc003inr.2_Missense_Mutation_p.R315Q|TLR2_uc003ins.2_Missense_Mutation_p.R315Q	p.R315Q	NM_003264	NP_003255	O60603	TLR2_HUMAN			3	1163	+	all_hematologic(180;0.093)	Renal(120;0.117)	315			Extracellular (Potential).		B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	37	c.944G>A	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965989	0.53507	0.0	2.33E-4	ENSG00000137462	ENST00000260010	T	0.52526	0.66	6.06	5.22	0.72569	.	0.131490	0.46145	D	0.000319	T	0.33352	0.0860	L	0.53249	1.67	0.09310	N	1	P	0.49559	0.925	B	0.25405	0.06	T	0.49113	-0.8973	10	0.66056	D	0.02	.	9.3792	0.38301	0.2229:0.0:0.7771:0.0	.	315	O60603	TLR2_HUMAN	Q	315	ENSP00000260010:R315Q	ENSP00000260010:R315Q	R	+	2	0	TLR2	154844453	0.454000	0.25728	0.117000	0.21633	0.022000	0.10575	1.308000	0.33528	1.581000	0.49865	0.655000	0.94253	CGG		0.338	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1		
PLEKHG4B	153478	broad.mit.edu	37	5	163559	163559	+	Silent	SNP	G	G	A	rs114260538	byFrequency	TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr5:163559G>A	ENST00000283426.6	+	11	2354	c.2304G>A	c.(2302-2304)ccG>ccA	p.P768P		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	768							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P768P(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGAAGCTCCCGCTGTGGCAGC	0.652													G|||	4	0.000798722	0.0	0.0029	5008	,	,		15776	0.001		0.0	False		,,,				2504	0.001					uc003jak.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(2302-2304)CCG>CCA		pleckstrin homology domain containing, family G		G		0,4404		0,0,2202	34.0	40.0	38.0		2304	-1.1	0.0	5	dbSNP_132	38	1,8595		0,1,4297	no	coding-synonymous	PLEKHG4B	NM_052909.3		0,1,6499	AA,AG,GG		0.0116,0.0,0.0077		768/1272	163559	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:163559G>A	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.2304G>A	5.37:g.163559G>A							p.P768P	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	11	2354	+			768						Silent	SNP	ENST00000283426.6	37	c.2304G>A	CCDS34124.1																																																																																				0.652	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909	
PLEKHG4B	153478	broad.mit.edu	37	5	163619	163619	+	Silent	SNP	G	G	A	rs114939243	byFrequency	TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr5:163619G>A	ENST00000283426.6	+	11	2414	c.2364G>A	c.(2362-2364)tcG>tcA	p.S788S		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	788							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CCTCCCCCTCGGGGCTCCACC	0.647													G|||	9	0.00179712	0.0	0.0029	5008	,	,		15223	0.0		0.007	False		,,,				2504	0.0					uc003jak.2																			0				skin(2)	2						c.(2362-2364)TCG>TCA		pleckstrin homology domain containing, family G		G		6,4396		0,6,2195	14.0	16.0	15.0		2364	1.0	0.6	5	dbSNP_132	15	60,8530		0,60,4235	no	coding-synonymous	PLEKHG4B	NM_052909.3		0,66,6430	AA,AG,GG		0.6985,0.1363,0.508		788/1272	163619	66,12926	2201	4295	6496	SO:0001819	synonymous_variant	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:163619G>A	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.2364G>A	5.37:g.163619G>A							p.S788S	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	11	2414	+			788						Silent	SNP	ENST00000283426.6	37	c.2364G>A	CCDS34124.1																																																																																				0.647	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909	
PIK3R1	5295	broad.mit.edu	37	5	67575431	67575432	+	Splice_Site	INS	-	-	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr5:67575431_67575432insA	ENST00000521381.1	+	5	1120_1121	c.504_505insA	c.(505-507)aca>Aaca	p.T169fs	PIK3R1_ENST00000274335.5_Splice_Site_p.T169fs|PIK3R1_ENST00000396611.1_Splice_Site_p.T169fs|PIK3R1_ENST00000521657.1_Splice_Site_p.T169fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	169	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	GTTTCCTAGATACACCCTCCGT	0.381			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												uc003jva.2				Rec	yes		5	5q13.1	5295	Mis|F|O	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			gliobastoma|ovarian|colorectal		2	Whole gene deletion(1)|Unknown(1)	p.?(1)	large_intestine(1)|lung(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101						c.(502-507)GATACAfs		phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)																																			SO:0001630	splice_region_variant	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67575431_67575432insA	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.503-1->A	5.37:g.67575432_67575432dupA		TCGA GBM(4;<1E-08)				PIK3R1_uc003jvb.2_Frame_Shift_Ins_p.D168fs	p.D168fs	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	5	1064_1065	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	168_169			Rho-GAP.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Frame_Shift_Ins	INS	ENST00000521381.1	37	c.504_505insA	CCDS3993.1																																																																																				0.381	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	Frame_Shift_Ins
PCDHA5	56143	broad.mit.edu	37	5	140202723	140202723	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr5:140202723G>A	ENST00000529859.1	+	1	1363	c.1363G>A	c.(1363-1365)Gcg>Acg	p.A455T	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A455T|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A455T|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	455	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGGCGTTCGCGCAGCCCCA	0.677																																						uc003lhl.2																			0				ovary(1)|breast(1)|skin(1)	3						c.(1363-1365)GCG>ACG		protocadherin alpha 5 isoform 1 precursor							72.0	74.0	73.0					5																	140202723		2203	4300	6503	SO:0001583	missense	56143				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140202723G>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1363G>A	5.37:g.140202723G>A	ENSP00000436557:p.Ala455Thr					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.A455T|PCDHA5_uc003lhj.1_Missense_Mutation_p.A455T	p.A455T	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1363	+			455			Extracellular (Potential).|Cadherin 5.		O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.1363G>A	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	7.608	0.674192	0.14841	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.59906	0.23;0.23;0.23	3.77	1.92	0.25849	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.26738	0.0654	N	0.05199	-0.095	0.09310	N	1	B;P;B	0.40266	0.152;0.71;0.364	B;B;B	0.26517	0.07;0.052;0.036	T	0.07404	-1.0774	9	0.44086	T	0.13	.	6.0873	0.19975	0.1694:0.2873:0.5432:0.0	.	455;455;455	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	T	455	ENSP00000433416:A455T;ENSP00000436557:A455T;ENSP00000367366:A455T	ENSP00000367366:A455T	A	+	1	0	PCDHA5	140182907	0.000000	0.05858	0.844000	0.33320	0.371000	0.29859	-1.613000	0.02059	0.203000	0.20529	0.558000	0.71614	GCG		0.677	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908	
GPR111	222611	broad.mit.edu	37	6	47647995	47647995	+	Missense_Mutation	SNP	C	C	A	rs141145040	byFrequency	TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr6:47647995C>A	ENST00000296862.1	+	5	660	c.660C>A	c.(658-660)aaC>aaA	p.N220K	GPR111_ENST00000398742.2_Missense_Mutation_p.N152K|GPR111_ENST00000507065.1_Missense_Mutation_p.N152K			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	220					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TCTTACACAACATATCAACAG	0.438																																						uc010jzj.1																			0				skin(1)	1						c.(658-660)AAC>AAA		G-protein coupled receptor 111							123.0	111.0	115.0					6																	47647995		1972	4181	6153	SO:0001583	missense	222611				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47647995C>A	AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.660C>A	6.37:g.47647995C>A	ENSP00000296862:p.Asn220Lys					GPR111_uc010jzk.1_Missense_Mutation_p.N152K|GPR111_uc003oyy.2_RNA	p.N220K	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN			5	661	+			220			Extracellular (Potential).		Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Missense_Mutation	SNP	ENST00000296862.1	37	c.660C>A		.	.	.	.	.	.	.	.	.	.	C	13.89	2.371747	0.42003	.	.	ENSG00000164393	ENST00000507065;ENST00000296862;ENST00000398742	T;T;T	0.21543	2.0;2.0;2.0	5.32	4.38	0.52667	.	0.203527	0.34268	N	0.004115	T	0.07593	0.0191	M	0.72353	2.195	0.28317	N	0.922393	P;P	0.40360	0.598;0.714	B;B	0.41374	0.355;0.194	T	0.40403	-0.9565	10	0.06099	T	0.92	.	3.3306	0.07083	0.1667:0.5527:0.1846:0.0959	.	152;220	Q8IZF7-2;Q8IZF7	.;GP111_HUMAN	K	152;220;152	ENSP00000422934:N152K;ENSP00000296862:N220K;ENSP00000381727:N152K	ENSP00000296862:N220K	N	+	3	2	GPR111	47755954	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	0.547000	0.23299	2.787000	0.95880	0.558000	0.71614	AAC		0.438	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839	
PACRG	135138	broad.mit.edu	37	6	163510341	163510341	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr6:163510341C>T	ENST00000337019.3	+	5	738	c.514C>T	c.(514-516)Ctc>Ttc	p.L172F	PACRG_ENST00000366888.2_Missense_Mutation_p.L172F|PACRG_ENST00000366889.2_Missense_Mutation_p.L172F	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	172					spermatid development (GO:0007286)	cell body (GO:0044297)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm midpiece (GO:0097225)				endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		TCTCAAGGTCCTCCAGCATCT	0.448																																						uc003qua.2																			0					0						c.(514-516)CTC>TTC		parkin co-regulated gene protein isoform 1							150.0	128.0	136.0					6																	163510341		2203	4300	6503	SO:0001583	missense	135138							g.chr6:163510341C>T	AK057286	CCDS5284.1, CCDS43524.1	6q26	2004-07-01			ENSG00000112530	ENSG00000112530			19152	protein-coding gene	gene with protein product		608427				12547187	Standard	NM_001080378		Approved	PARK2CRG, FLJ32724, Glup, HAK005771	uc003qua.3	Q96M98	OTTHUMG00000016116	ENST00000337019.3:c.514C>T	6.37:g.163510341C>T	ENSP00000337946:p.Leu172Phe					PACRG_uc003qub.2_Missense_Mutation_p.L172F|PACRG_uc003quc.2_Missense_Mutation_p.L172F	p.L172F	NM_152410	NP_689623	Q96M98	PACRG_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)	5	738	+		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)	172					E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	Missense_Mutation	SNP	ENST00000337019.3	37	c.514C>T	CCDS5284.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.314521|4.314521	0.81358|0.81358	.|.	.|.	ENSG00000112530|ENSG00000112530	ENST00000337019;ENST00000366889;ENST00000366888|ENST00000534958	T;T;T|.	0.78246|.	-1.06;-1.16;-1.16|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81479|0.81479	0.4831|0.4831	M|M	0.89904|0.89904	3.07|3.07	0.49687|0.49687	D|D	0.999817|0.999817	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.76575|.	0.988;0.987|.	D|D	0.84522|0.84522	0.0628|0.0628	10|5	0.87932|.	D|.	0|.	-24.3856|-24.3856	15.9783|15.9783	0.80086|0.80086	0.1352:0.8648:0.0:0.0|0.1352:0.8648:0.0:0.0	.|.	172;172|.	Q96M98-2;Q96M98|.	.;PACRG_HUMAN|.	F|L	172|87	ENSP00000337946:L172F;ENSP00000355855:L172F;ENSP00000355854:L172F|.	ENSP00000337946:L172F|.	L|P	+|+	1|2	0|0	PACRG|PACRG	163430331|163430331	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.402000|3.402000	0.52608|0.52608	2.657000|2.657000	0.90304|0.90304	0.591000|0.591000	0.81541|0.81541	CTC|CCT		0.448	PACRG-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400424.1	NM_152410	
INTS1	26173	broad.mit.edu	37	7	1522258	1522258	+	Silent	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr7:1522258C>T	ENST00000404767.3	-	27	3712	c.3627G>A	c.(3625-3627)tcG>tcA	p.S1209S	INTS1_ENST00000389470.4_Silent_p.S1371S	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1209					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCGCCTCCTCCGATGTGTCCA	0.642																																						uc003skn.2																			0					0						c.(3625-3627)TCG>TCA		integrator complex subunit 1							47.0	57.0	54.0					7																	1522258		2126	4230	6356	SO:0001819	synonymous_variant	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1522258C>T	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.3627G>A	7.37:g.1522258C>T						INTS1_uc003skp.1_3'UTR	p.S1209S	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	27	3728	-		Ovarian(82;0.0253)	1209					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	ENST00000404767.3	37	c.3627G>A	CCDS47526.1																																																																																				0.642	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1		
NME8	51314	broad.mit.edu	37	7	37890338	37890338	+	Splice_Site	SNP	G	G	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr7:37890338G>A	ENST00000199447.4	+	5	570		c.e5+1		EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Splice_Site	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8						cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										TTTTGCTGTCGTAAGAATTTT	0.318																																						uc003tfn.2																			0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.e5+1		thioredoxin domain containing 3							81.0	87.0	85.0					7																	37890338		2203	4300	6503	SO:0001630	splice_region_variant	51314	Kartagener_syndrome			cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37890338G>A	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.198+1G>A	7.37:g.37890338G>A							p.V66_splice	NM_016616	NP_057700	Q8N427	TXND3_HUMAN			5	570	+								Q9NZH1	Splice_Site	SNP	ENST00000199447.4	37	c.198_splice	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	G	8.025	0.760384	0.15914	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	.	.	.	5.11	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8198	0.57685	0.0814:0.0:0.9186:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TXNDC3	37856863	1.000000	0.71417	0.947000	0.38551	0.024000	0.10985	6.736000	0.74811	1.288000	0.44600	0.561000	0.74099	.		0.318	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616	Intron
NME8	51314	broad.mit.edu	37	7	37924770	37924770	+	Nonsense_Mutation	SNP	T	T	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr7:37924770T>A	ENST00000199447.4	+	14	1535	c.1163T>A	c.(1162-1164)tTa>tAa	p.L388*	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Nonsense_Mutation_p.L388*	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	388	NDK 2.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										GCCCTTGTTTTATTGAGAGAC	0.368																																						uc003tfn.2																			0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1162-1164)TTA>TAA		thioredoxin domain containing 3							106.0	93.0	98.0					7																	37924770		2203	4300	6503	SO:0001587	stop_gained	51314	Kartagener_syndrome			cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37924770T>A	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1163T>A	7.37:g.37924770T>A	ENSP00000199447:p.Leu388*						p.L388*	NM_016616	NP_057700	Q8N427	TXND3_HUMAN			14	1535	+			388			NDK 2.		Q9NZH1	Nonsense_Mutation	SNP	ENST00000199447.4	37	c.1163T>A	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	T	33	5.198163	0.94997	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	.	.	.	3.69	3.69	0.42338	.	0.433889	0.17479	N	0.172814	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.9791	10.7015	0.45931	0.0:0.0:0.0:1.0	.	.	.	.	X	388	.	ENSP00000199447:L388X	L	+	2	0	TXNDC3	37891295	0.999000	0.42202	0.967000	0.41034	0.709000	0.40893	4.476000	0.60216	1.905000	0.55150	0.460000	0.39030	TTA		0.368	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616	
PKD1L1	168507	broad.mit.edu	37	7	47854942	47854942	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr7:47854942G>A	ENST00000289672.2	-	47	7129	c.7079C>T	c.(7078-7080)cCg>cTg	p.P2360L	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2360					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CTGAGCCCCCGGCACACGGGC	0.567																																						uc003tny.1																			0				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(7078-7080)CCG>CTG		polycystin-1L1							53.0	51.0	52.0					7																	47854942		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47854942G>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.7079C>T	7.37:g.47854942G>A	ENSP00000289672:p.Pro2360Leu					C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_Missense_Mutation_p.P87L	p.P2360L	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			47	7079	-			2360			Extracellular (Potential).		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.7079C>T	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	2.316	-0.356858	0.05138	.	.	ENSG00000158683	ENST00000289672	T	0.20332	2.08	4.4	-0.152	0.13407	.	2.256620	0.02301	N	0.071185	T	0.14960	0.0361	L	0.35723	1.085	0.09310	N	1	B	0.19331	0.035	B	0.08055	0.003	T	0.13602	-1.0503	10	0.17832	T	0.49	-0.1281	2.92	0.05766	0.1031:0.2976:0.4238:0.1755	.	2360	Q8TDX9	PK1L1_HUMAN	L	2360	ENSP00000289672:P2360L	ENSP00000289672:P2360L	P	-	2	0	PKD1L1	47821467	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.768000	0.04715	-0.085000	0.12573	0.655000	0.94253	CCG		0.567	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	
EGFR	1956	broad.mit.edu	37	7	55220274	55220274	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr7:55220274C>T	ENST00000275493.2	+	6	841	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	EGFR_ENST00000454757.2_Missense_Mutation_p.R169C|EGFR_ENST00000455089.1_Missense_Mutation_p.R177C|EGFR_ENST00000344576.2_Missense_Mutation_p.R222C|EGFR_ENST00000420316.2_Missense_Mutation_p.R222C|EGFR_ENST00000342916.3_Missense_Mutation_p.R222C|EGFR_ENST00000442591.1_Missense_Mutation_p.R222C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	222			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.R222C(4)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GTGCTCCGGGCGCTGCCGTGG	0.597		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		4	Substitution - Missense(4)	p.V30_R297>G(5)|p.R222C(2)	large_intestine(2)|central_nervous_system(2)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(664-666)CGC>TGC		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						91.0	104.0	100.0					7																	55220274		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55220274C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.664C>T	7.37:g.55220274C>T	ENSP00000275493:p.Arg222Cys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Missense_Mutation_p.R222C|EGFR_uc003tqi.2_Missense_Mutation_p.R222C|EGFR_uc003tqj.2_Missense_Mutation_p.R222C|EGFR_uc010kzg.1_Missense_Mutation_p.R177C|EGFR_uc011kco.1_Missense_Mutation_p.R169C|EGFR_uc003tql.1_RNA	p.R222C	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	910	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		222			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.664C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168333	0.78339	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	5.3	5.3	0.74995	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.84215	0.5423	M	0.92604	3.325	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0	D	0.88214	0.2892	10	0.87932	D	0	.	17.5084	0.87753	0.0:1.0:0.0:0.0	.	177;222;222;222;222	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	C	177;222;92;222;222;222;222;169;16	ENSP00000415559:R177C;ENSP00000342376:R222C;ENSP00000345973:R222C;ENSP00000413843:R222C;ENSP00000275493:R222C;ENSP00000410031:R222C;ENSP00000395243:R169C	ENSP00000275493:R222C	R	+	1	0	EGFR	55187768	1.000000	0.71417	0.977000	0.42913	0.973000	0.67179	4.487000	0.60293	2.448000	0.82819	0.655000	0.94253	CGC		0.597	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
TAC1	6863	broad.mit.edu	37	7	97364145	97364145	+	Silent	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr7:97364145C>T	ENST00000319273.5	+	5	570	c.273C>T	c.(271-273)ggC>ggT	p.G91G	TAC1_ENST00000346867.4_Silent_p.G76G|TAC1_ENST00000350485.4_Silent_p.G91G	NM_003182.2	NP_003173.1	P20366	TKN1_HUMAN	tachykinin, precursor 1	91					associative learning (GO:0008306)|cell-cell signaling (GO:0007267)|detection of abiotic stimulus (GO:0009582)|inflammatory response (GO:0006954)|insemination (GO:0007320)|long-term memory (GO:0007616)|negative regulation of heart rate (GO:0010459)|neuropeptide signaling pathway (GO:0007218)|positive regulation of action potential (GO:0045760)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of corticosterone secretion (GO:2000854)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of blood pressure (GO:0008217)|response to hormone (GO:0009725)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)|tachykinin receptor signaling pathway (GO:0007217)	axon (GO:0030424)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				large_intestine(4)|lung(6)|urinary_tract(1)	11	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)					TAGGACATGGCCAGATCTCTC	0.214																																						uc003uop.3																			0					0						c.(271-273)GGC>GGT		tachykinin 1 isoform beta precursor	Bacitracin(DB00626)						26.0	29.0	28.0					7																	97364145		2152	4229	6381	SO:0001819	synonymous_variant	6863				detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space		g.chr7:97364145C>T	M68907	CCDS5649.1, CCDS5650.1, CCDS5651.1	7q21-q22	2013-02-26	2008-01-17		ENSG00000006128	ENSG00000006128		"""Endogenous ligands"""	11517	protein-coding gene	gene with protein product	"""substance K"", ""substance P"", ""neurokinin 1"", ""neurokinin 2"", ""neuromedin L"", ""neurokinin alpha"", ""neuropeptide K"", ""neuropeptide gamma"", ""preprotachykinin"""	162320	"""tachykinin, precursor 1 (substance K, substance P, neurokinin 1, neurokinin 2, neuromedin L, neurokinin alpha, neuropeptide K, neuropeptide gamma)"""	TAC2, NKNA		1708336	Standard	NM_003182		Approved	NPK	uc003uop.4	P20366	OTTHUMG00000154069	ENST00000319273.5:c.273C>T	7.37:g.97364145C>T						TAC1_uc003uoq.3_Silent_p.G91G|TAC1_uc003uor.3_Silent_p.G76G|TAC1_uc003uos.3_Silent_p.G76G	p.G91G	NM_003182	NP_003173	P20366	TKN1_HUMAN			5	519	+	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)		91					O60600|O60601|Q00072|Q53GH4|Q549V0|Q549V1|Q549V2|Q6FHM1	Silent	SNP	ENST00000319273.5	37	c.273C>T	CCDS5649.1																																																																																				0.214	TAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333696.1	NM_003182	
FAM71F1	84691	broad.mit.edu	37	7	128369997	128369997	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr7:128369997G>A	ENST00000315184.5	+	6	948	c.895G>A	c.(895-897)Gac>Aac	p.D299N	FAM71F1_ENST00000485070.1_Missense_Mutation_p.D198N	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	299										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						TTGCACCTGTGACCTACGTTG	0.532																																						uc003vno.1																			0		p.D299G(1)		skin(1)	1						c.(895-897)GAC>AAC		testes development-related NYD-SP18							126.0	113.0	117.0					7																	128369997		2203	4300	6503	SO:0001583	missense	84691							g.chr7:128369997G>A	AF367470	CCDS5804.1, CCDS64763.1	7q32.1	2007-11-20	2007-11-20	2007-11-20	ENSG00000135248	ENSG00000135248			30704	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member A"""	FAM137A		12477932	Standard	XM_005250645		Approved	NYD-SP18	uc003vno.1	Q96KD3	OTTHUMG00000158276	ENST00000315184.5:c.895G>A	7.37:g.128369997G>A	ENSP00000326652:p.Asp299Asn					FAM71F1_uc003vnm.1_RNA|FAM71F1_uc003vnn.1_Missense_Mutation_p.D198N|FAM71F1_uc003vnp.1_Missense_Mutation_p.D297N	p.D299N	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN			6	948	+			299					Q8IY75|Q8NA48	Missense_Mutation	SNP	ENST00000315184.5	37	c.895G>A	CCDS5804.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304815	0.23736	.	.	ENSG00000135248	ENST00000485070;ENST00000315184	T;T	0.25912	1.77;3.23	4.27	3.37	0.38596	.	0.000000	0.46442	D	0.000291	T	0.39809	0.1092	L	0.53249	1.67	0.32150	N	0.58439	D;D;D	0.67145	0.996;0.993;0.993	D;D;D	0.79784	0.993;0.984;0.984	T	0.42832	-0.9428	10	0.20046	T	0.44	-16.9633	10.1651	0.42875	0.0:0.2028:0.7972:0.0	.	297;299;198	Q96KD3-2;Q96KD3;Q8NA48	.;F71F1_HUMAN;.	N	198;299	ENSP00000418192:D198N;ENSP00000326652:D299N	ENSP00000326652:D299N	D	+	1	0	FAM71F1	128157233	0.991000	0.36638	0.694000	0.30210	0.209000	0.24338	2.656000	0.46716	1.114000	0.41781	0.655000	0.94253	GAC		0.532	FAM71F1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350544.2	NM_032599	
LMBR1	64327	broad.mit.edu	37	7	156556439	156556439	+	Silent	SNP	C	C	T	rs201832150		TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr7:156556439C>T	ENST00000353442.5	-	6	710	c.474G>A	c.(472-474)gcG>gcA	p.A158A	LMBR1_ENST00000354505.4_Silent_p.A158A|LMBR1_ENST00000540390.1_Silent_p.A137A|LMBR1_ENST00000359422.4_Silent_p.A6A	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	158					embryonic digit morphogenesis (GO:0042733)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		GAATGAGTAACGCAAGAAGAA	0.378																																						uc003wmw.3																			0					0						c.(472-474)GCG>GCA		limb region 1 protein							120.0	112.0	115.0					7																	156556439		2203	4300	6503	SO:0001819	synonymous_variant	64327					integral to membrane	receptor activity	g.chr7:156556439C>T	AF107454	CCDS5945.1	7q36.3	2013-08-05	2013-08-05	2005-07-25	ENSG00000105983	ENSG00000105983			13243	protein-coding gene	gene with protein product		605522	"""chromosome 7 open reading frame 2"", ""limb region 1 homolog (mouse)"""	C7orf2		10329000, 11090342	Standard	NM_022458		Approved	ACHP, FLJ11665, ZRS	uc003wmw.4	Q8WVP7	OTTHUMG00000151510	ENST00000353442.5:c.474G>A	7.37:g.156556439C>T						LMBR1_uc003wmv.3_Silent_p.A6A|LMBR1_uc003wmx.3_Silent_p.A6A|LMBR1_uc010lqn.2_Silent_p.A158A|LMBR1_uc011kvx.1_Silent_p.A137A	p.A158A	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)	6	689	-	Ovarian(565;0.218)	all_hematologic(28;0.0592)	158			Helical; (Potential).		A4D242|Q8N3E3|Q96QZ5|Q9H5N0|Q9HAG9|Q9UDN5|Q9Y6U2	Silent	SNP	ENST00000353442.5	37	c.474G>A	CCDS5945.1																																																																																				0.378	LMBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347939.3	NM_022458	
UBXN8	7993	broad.mit.edu	37	8	30609013	30609013	+	RNA	SNP	A	A	C			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr8:30609013A>C	ENST00000519246.1	+	0	388							O00124	UBXN8_HUMAN	UBX domain protein 8						ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|single fertilization (GO:0007338)	integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(1)|lung(2)	3						ACTCATTTAAATCTCCCCAAG	0.338																																					Colon(169;855 1943 17895 39459 47884)	uc003xii.2																			0					0						c.(187-189)AAA>AAC		reproduction 8							100.0	88.0	92.0					8																	30609013		1802	4070	5872			7993				single fertilization			g.chr8:30609013A>C	D83767	CCDS75723.1, CCDS75724.1, CCDS75725.1	8p12-p11.2	2012-07-06	2008-07-25	2008-07-25		ENSG00000104691		"""UBX domain containing"""	30307	protein-coding gene	gene with protein product		602155	"""UBX domain containing 6"""	UBXD6		9027507, 21949850	Standard	NM_005671		Approved	D8S2298E, REP8	uc003xii.3	O00124			8.37:g.30609013A>C						UBXN8_uc010lvi.2_Intron|UBXN8_uc011lbb.1_RNA|UBXN8_uc003xij.2_RNA	p.K63N	NM_005671	NP_005662	O00124	UBXN8_HUMAN			2	206	+			63					Q7Z6F2	Missense_Mutation	SNP	ENST00000519246.1	37	c.189A>C																																																																																					0.338	UBXN8-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000375957.1	NM_005671	
TG	7038	broad.mit.edu	37	8	134107432	134107432	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr8:134107432C>T	ENST00000220616.4	+	42	7424	c.7384C>T	c.(7384-7386)Ctc>Ttc	p.L2462F	SLA_ENST00000395352.3_Intron|SLA_ENST00000517648.1_Intron|SLA_ENST00000338087.5_Intron|TG_ENST00000519543.1_Missense_Mutation_p.L595F|TG_ENST00000542445.1_Missense_Mutation_p.L832F|SLA_ENST00000524345.1_Intron|SLA_ENST00000518565.1_Intron|TG_ENST00000377869.1_Missense_Mutation_p.L2405F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2462					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGCCAATGTCCTCAATGATGC	0.512																																						uc003ytw.2																			0				ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(7384-7386)CTC>TTC		thyroglobulin precursor							158.0	134.0	142.0					8																	134107432		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134107432C>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7384C>T	8.37:g.134107432C>T	ENSP00000220616:p.Leu2462Phe					TG_uc010mdw.2_Missense_Mutation_p.L1221F|TG_uc011ljb.1_Missense_Mutation_p.L831F|TG_uc011ljc.1_Missense_Mutation_p.L595F|SLA_uc003ytz.2_Intron|SLA_uc011lje.1_Intron|SLA_uc011ljf.1_Intron|SLA_uc011ljg.1_Intron|SLA_uc010mea.2_Intron	p.L2462F	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	42	7425	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2462					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.7384C>T	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.05|17.05	3.289687|3.289687	0.59976|0.59976	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543|ENST00000519178	T;T;T;T|.	0.71341|.	-0.56;-0.56;-0.56;-0.56|.	6.07|6.07	6.07|6.07	0.98685|0.98685	Carboxylesterase, type B (1);|.	0.199654|.	0.35291|.	N|.	0.003302|.	T|T	0.75671|0.75671	0.3881|0.3881	M|M	0.75264|0.75264	2.295|2.295	0.80722|0.80722	D|D	1|1	D;P;D|.	0.89917|.	1.0;0.827;1.0|.	D;P;D|.	0.79784|.	0.993;0.536;0.993|.	T|T	0.74300|0.74300	-0.3710|-0.3710	10|5	0.87932|.	D|.	0|.	.|.	16.144|16.144	0.81551|0.81551	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	595;832;2462|.	E7EVM0;F5GWW5;P01266|.	.;.;THYG_HUMAN|.	F|L	2405;1268;2462;832;595|917	ENSP00000367100:L2405F;ENSP00000220616:L2462F;ENSP00000441693:L832F;ENSP00000430430:L595F|.	ENSP00000220616:L2462F|.	L|P	+|+	1|2	0|0	TG|TG	134176614|134176614	0.991000|0.991000	0.36638|0.36638	0.994000|0.994000	0.49952|0.49952	0.325000|0.325000	0.28411|0.28411	3.137000|3.137000	0.50562|0.50562	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	CTC|CCT		0.512	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
INSL6	11172	broad.mit.edu	37	9	5185468	5185468	+	Silent	SNP	G	G	A	rs141353328	byFrequency	TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr9:5185468G>A	ENST00000381641.3	-	1	200	c.135C>T	c.(133-135)tgC>tgT	p.C45C		NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	45					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.C45C(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		TGGCATGGCCGCAGAGTTTTT	0.542													G|||	8	0.00159744	0.0053	0.0014	5008	,	,		16438	0.0		0.0	False		,,,				2504	0.0					uc003zix.2																			1	Substitution - coding silent(1)		endometrium(1)		0						c.(133-135)TGC>TGT		insulin-like 6 precursor		G		25,4381	32.6+/-62.9	0,25,2178	77.0	72.0	73.0		135	-1.8	1.0	9	dbSNP_134	73	0,8600		0,0,4300	no	coding-synonymous	INSL6	NM_007179.2		0,25,6478	AA,AG,GG		0.0,0.5674,0.1922		45/214	5185468	25,12981	2203	4300	6503	SO:0001819	synonymous_variant	11172					extracellular region	hormone activity	g.chr9:5185468G>A	AF156094	CCDS6458.1	9p24	2008-07-21			ENSG00000120210	ENSG00000120210			6089	protein-coding gene	gene with protein product	"""relaxin/insulin-like factor 1"""	606414				10819760	Standard	NM_007179		Approved	RIF1	uc003zix.3	Q9Y581	OTTHUMG00000019489	ENST00000381641.3:c.135C>T	9.37:g.5185468G>A							p.C45C	NM_007179	NP_009110	Q9Y581	INSL6_HUMAN		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)	1	151	-	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)	45					A0AVS0|Q9NS16	Silent	SNP	ENST00000381641.3	37	c.135C>T	CCDS6458.1																																																																																				0.542	INSL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051608.3	NM_007179	
CTSV	1515	broad.mit.edu	37	9	99800218	99800218	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr9:99800218G>C	ENST00000259470.5	-	2	357	c.108C>G	c.(106-108)caC>caG	p.H36Q	CTSV_ENST00000479932.1_5'UTR|CTSV_ENST00000538255.1_Missense_Mutation_p.H36Q	NM_001333.3	NP_001324.2	O60911	CATL2_HUMAN	cathepsin V	36					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic cell death (GO:0048102)|catagen (GO:0042637)|cellular response to starvation (GO:0009267)|decidualization (GO:0046697)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|multicellular organismal aging (GO:0010259)|negative regulation of keratinocyte proliferation (GO:0010839)|nerve development (GO:0021675)|protein autoprocessing (GO:0016540)|regulation of actin cytoskeleton reorganization (GO:2000249)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to gonadotropin (GO:0034698)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	aminopeptidase activity (GO:0004177)|cysteine-type carboxypeptidase activity (GO:0016807)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptide binding (GO:0042277)										ATAATCTTCTGTGTGTTGCCT	0.483																																						uc004awt.2																			0					0						c.(106-108)CAC>CAG		cathepsin L2 preproprotein							134.0	136.0	136.0					9																	99800218		2203	4300	6503	SO:0001583	missense	1515					lysosome	cysteine-type endopeptidase activity	g.chr9:99800218G>C	Y14734	CCDS6723.1	9q22.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000136943	ENSG00000136943		"""Cathepsins"""	2538	protein-coding gene	gene with protein product		603308	"""cathepsin L2"""	CTSL2		9563472, 10029531	Standard	NM_001201575		Approved	CTSU	uc004awt.3	O60911	OTTHUMG00000020314	ENST00000259470.5:c.108C>G	9.37:g.99800218G>C	ENSP00000259470:p.His36Gln					CTSL2_uc010msi.2_Missense_Mutation_p.H36Q|CTSL2_uc004awu.2_5'UTR|CTSL2_uc010msj.1_5'UTR|CTSL2_uc010msk.2_5'UTR	p.H36Q	NM_001333	NP_001324	O60911	CATL2_HUMAN			2	305	-		Acute lymphoblastic leukemia(62;0.0559)	36					O60233|Q2TB86|Q5T1U0	Missense_Mutation	SNP	ENST00000259470.5	37	c.108C>G	CCDS6723.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.979140	0.34942	.	.	ENSG00000136943	ENST00000259470;ENST00000538255	D;D	0.87966	-2.32;-2.32	4.5	0.491	0.16867	Proteinase inhibitor I29, cathepsin propeptide (2);	0.047672	0.85682	D	0.000000	D	0.94205	0.8140	H	0.96333	3.805	0.35456	D	0.796149	D	0.65815	0.995	D	0.68039	0.955	D	0.94254	0.7496	9	.	.	.	.	10.0983	0.42488	0.3965:0.0:0.6035:0.0	.	36	O60911	CATL2_HUMAN	Q	36	ENSP00000259470:H36Q;ENSP00000445052:H36Q	.	H	-	3	2	CTSL2	98840039	0.888000	0.30383	0.000000	0.03702	0.033000	0.12548	0.982000	0.29539	-0.224000	0.09928	-1.587000	0.00848	CAC		0.483	CTSV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053301.2	NM_001333	
FAM102A	399665	broad.mit.edu	37	9	130710496	130710496	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr9:130710496G>A	ENST00000373095.1	-	6	845	c.470C>T	c.(469-471)tCg>tTg	p.S157L	FAM102A_ENST00000373084.4_Missense_Mutation_p.S15L|FAM102A_ENST00000300434.3_Intron	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	157	Ser-rich.									breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						CTTGGCAGTCGATGGTGGCCT	0.602																																						uc004bsx.1																			0				ovary(1)	1						c.(469-471)TCG>TTG		early estrogen-induced gene 1 protein isoform a							90.0	80.0	84.0					9																	130710496		2203	4300	6503	SO:0001583	missense	399665							g.chr9:130710496G>A		CCDS6888.1, CCDS35150.1	9q34.11	2012-11-05	2005-11-17	2005-11-17	ENSG00000167106	ENSG00000167106			31419	protein-coding gene	gene with protein product	"""sym-3 homolog A (C. elegans)"""	610891	"""chromosome 9 open reading frame 132"""	C9orf132			Standard	NM_001035254		Approved	Eeig1, bA203J24.7, SYM-3A	uc004bsx.2	Q5T9C2	OTTHUMG00000020720	ENST00000373095.1:c.470C>T	9.37:g.130710496G>A	ENSP00000362187:p.Ser157Leu					FAM102A_uc004bsw.1_Missense_Mutation_p.S15L|FAM102A_uc004bsy.1_5'UTR	p.S157L	NM_001035254	NP_001030331	Q5T9C2	F102A_HUMAN			6	549	-			157			Ser-rich.		A2A329|Q8TEL4	Missense_Mutation	SNP	ENST00000373095.1	37	c.470C>T	CCDS35150.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.623735	0.66901	.	.	ENSG00000167106	ENST00000373095;ENST00000373084	.	.	.	4.99	4.99	0.66335	.	0.324081	0.34652	N	0.003790	T	0.59756	0.2217	M	0.77313	2.365	0.53688	D	0.999979	D	0.62365	0.991	B	0.41174	0.349	T	0.70457	-0.4866	9	0.87932	D	0	-25.4716	15.0085	0.71530	0.0:0.0:1.0:0.0	.	157	Q5T9C2	F102A_HUMAN	L	157;15	.	ENSP00000362176:S15L	S	-	2	0	FAM102A	129750317	1.000000	0.71417	0.995000	0.50966	0.579000	0.36224	7.658000	0.83755	2.307000	0.77673	0.563000	0.77884	TCG		0.602	FAM102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054298.2		
PHKA1	5255	broad.mit.edu	37	X	71895990	71895990	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chrX:71895990A>G	ENST00000373542.4	-	6	707	c.548T>C	c.(547-549)aTa>aCa	p.I183T	PHKA1_ENST00000541944.1_Missense_Mutation_p.I183T|PHKA1_ENST00000373539.3_Missense_Mutation_p.I183T|PHKA1_ENST00000373545.3_Missense_Mutation_p.I183T|PHKA1_ENST00000339490.3_Missense_Mutation_p.I183T	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	183					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					ACGTTCCCATATCCCGAAGTC	0.388																																						uc004eax.3																			0				ovary(3)|skin(1)	4						c.(547-549)ATA>ACA		phosphorylase kinase, alpha 1 (muscle) isoform							122.0	91.0	102.0					X																	71895990		2203	4300	6503	SO:0001583	missense	5255				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:71895990A>G		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.548T>C	X.37:g.71895990A>G	ENSP00000362643:p.Ile183Thr					PHKA1_uc004eay.3_Missense_Mutation_p.I183T|PHKA1_uc011mqi.1_Missense_Mutation_p.I183T	p.I183T	NM_002637	NP_002628	P46020	KPB1_HUMAN			6	849	-	Renal(35;0.156)		183					B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	c.548T>C	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	a	20.8	4.057586	0.76074	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76;-2.76	5.46	5.46	0.80206	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.082677	0.85682	D	0.000000	D	0.95223	0.8451	M	0.88377	2.95	0.49389	D	0.999781	P;D;D	0.57571	0.837;0.97;0.98	P;D;P	0.63283	0.504;0.913;0.906	D	0.95684	0.8734	10	0.72032	D	0.01	-7.6793	12.3193	0.54975	1.0:0.0:0.0:0.0	.	183;183;183	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	T	183	ENSP00000362646:I183T;ENSP00000362643:I183T;ENSP00000441251:I183T;ENSP00000342469:I183T;ENSP00000362640:I183T	ENSP00000342469:I183T	I	-	2	0	PHKA1	71812715	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	8.479000	0.90431	1.814000	0.52955	0.414000	0.27820	ATA		0.388	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1		
PHF6	84295	broad.mit.edu	37	X	133551307	133551307	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chrX:133551307G>C	ENST00000332070.3	+	9	1145	c.943G>C	c.(943-945)Gaa>Caa	p.E315Q	PHF6_ENST00000416404.2_Missense_Mutation_p.E281Q|PHF6_ENST00000370803.3_Missense_Mutation_p.E315Q|PHF6_ENST00000370799.1_Missense_Mutation_p.E316Q|PHF6_ENST00000394292.1_Missense_Mutation_p.E316Q	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	315	Extended PHD2 domain (ePHD2).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|scaffold protein binding (GO:0097110)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					TAAATACATTGAAAATATGTC	0.353			"""F, N, Splice, Mis"""		ETP ALL																																Colon(100;666 1493 6344 21231 35807)	uc004exj.2				Rec	yes		X	Xq26.3	84295		PHD finger protein 6			L					0				ovary(1)	1						c.(943-945)GAA>CAA		PHD finger protein 6 isoform 1							123.0	106.0	111.0					X																	133551307		2203	4300	6503	SO:0001583	missense	84295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding	g.chrX:133551307G>C	AB058726	CCDS14639.1, CCDS14640.1	Xq26	2014-09-17			ENSG00000156531	ENSG00000156531		"""Zinc fingers, PHD-type"""	18145	protein-coding gene	gene with protein product	"""centromere protein 31"""	300414	"""Borjeson-Forssman-Lehmann syndrome"""	BFLS, BORJ		12415272, 15466013	Standard	NM_032335		Approved	KIAA1823, MGC14797, CENP-31	uc004exk.3	Q8IWS0	OTTHUMG00000022453	ENST00000332070.3:c.943G>C	X.37:g.133551307G>C	ENSP00000329097:p.Glu315Gln					PHF6_uc004exk.2_Missense_Mutation_p.E315Q|PHF6_uc011mvk.1_Missense_Mutation_p.E281Q|PHF6_uc004exi.2_Missense_Mutation_p.E316Q	p.E315Q	NM_001015877	NP_001015877	Q8IWS0	PHF6_HUMAN			9	1145	+	Acute lymphoblastic leukemia(192;0.000127)		315			PHD-type 2; degenerate.		A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0	Missense_Mutation	SNP	ENST00000332070.3	37	c.943G>C	CCDS14639.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495250	0.85069	.	.	ENSG00000156531	ENST00000370803;ENST00000332070;ENST00000394292;ENST00000370799;ENST00000416404	T;T;T;T;T	0.71341	-0.07;-0.07;-0.07;-0.56;-0.07	5.92	5.06	0.68205	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.78830	0.4345	L	0.53780	1.695	0.58432	D	0.999997	B;D;P	0.69078	0.089;0.997;0.924	B;D;P	0.79108	0.075;0.992;0.706	T	0.74965	-0.3484	10	0.20046	T	0.44	-14.3881	13.4549	0.61193	0.0767:0.0:0.9233:0.0	.	281;315;316	B4E0G4;Q8IWS0;E9PC97	.;PHF6_HUMAN;.	Q	315;315;316;316;281	ENSP00000359839:E315Q;ENSP00000329097:E315Q;ENSP00000377831:E316Q;ENSP00000359835:E316Q;ENSP00000394480:E281Q	ENSP00000329097:E315Q	E	+	1	0	PHF6	133378973	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.458000	0.80787	1.245000	0.43885	0.594000	0.82650	GAA		0.353	PHF6-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058367.1	NM_032458	
SLITRK4	139065	broad.mit.edu	37	X	142717983	142717983	+	Silent	SNP	T	T	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chrX:142717983T>A	ENST00000381779.4	-	2	1167	c.942A>T	c.(940-942)ggA>ggT	p.G314G	SLITRK4_ENST00000338017.4_Silent_p.G314G|SLITRK4_ENST00000356928.1_Silent_p.G314G	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	314						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCAACGATTCCAGAGATCT	0.463																																						uc004fbx.2																			0				upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(940-942)GGA>GGT		slit and trk like 4 protein precursor							160.0	143.0	148.0					X																	142717983		2203	4300	6503	SO:0001819	synonymous_variant	139065					integral to membrane		g.chrX:142717983T>A	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.942A>T	X.37:g.142717983T>A						SLITRK4_uc004fby.2_Silent_p.G314G	p.G314G	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			2	1318	-	Acute lymphoblastic leukemia(192;6.56e-05)		314			Extracellular (Potential).		Q5JXG3|Q8TCM8|Q96DL3	Silent	SNP	ENST00000381779.4	37	c.942A>T	CCDS14679.1																																																																																				0.463	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078	
