#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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
C1orf158	93190	broad.mit.edu	37	1	12819342	12819342	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr1:12819342C>T	ENST00000288048.5	+	3	541	c.325C>T	c.(325-327)Ccg>Tcg	p.P109S	C1orf158_ENST00000376210.3_Missense_Mutation_p.P71S	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	109								p.P109S(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTTACAACCCGGGGCTGCC	0.537																																						uc001auh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(325-327)CCG>TCG		hypothetical protein LOC93190							139.0	142.0	141.0					1																	12819342		2203	4300	6503	SO:0001583	missense	93190							g.chr1:12819342C>T	BX647383	CCDS147.1	1p36.21	2008-02-05			ENSG00000157330	ENSG00000157330			28567	protein-coding gene	gene with protein product						12477932	Standard	NM_152290		Approved	MGC35194	uc001auh.3	Q8N1D5	OTTHUMG00000001888	ENST00000288048.5:c.325C>T	1.37:g.12819342C>T	ENSP00000288048:p.Pro109Ser					C1orf158_uc010obe.1_Missense_Mutation_p.P109S	p.P109S	NM_152290	NP_689503	Q8N1D5	CA158_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	3	541	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	109					Q5VUY4	Missense_Mutation	SNP	ENST00000288048.5	37	c.325C>T	CCDS147.1	.	.	.	.	.	.	.	.	.	.	.	18.16	3.562366	0.65538	.	.	ENSG00000157330	ENST00000288048;ENST00000376210	T;T	0.42900	0.96;0.96	5.58	5.58	0.84498	.	0.068037	0.64402	D	0.000007	T	0.57227	0.2039	L	0.49126	1.545	0.44619	D	0.997596	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.48364	-0.9042	10	0.25106	T	0.35	-19.9786	15.0745	0.72066	0.0:1.0:0.0:0.0	.	109;109	B4DQE0;Q8N1D5	.;CA158_HUMAN	S	109;71	ENSP00000288048:P109S;ENSP00000365383:P71S	ENSP00000288048:P109S	P	+	1	0	C1orf158	12741929	1.000000	0.71417	0.993000	0.49108	0.843000	0.47879	3.761000	0.55242	2.626000	0.88956	0.655000	0.94253	CCG		0.537	C1orf158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005325.1		NM_152290		17	182	0	0	0	0.006122	0	17	182		
PTPRU	10076	broad.mit.edu	37	1	29651735	29651735	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr1:29651735C>T	ENST00000345512.3	+	30	4304	c.4175C>T	c.(4174-4176)gCc>gTc	p.A1392V	PTPRU_ENST00000428026.2_Missense_Mutation_p.A1379V|PTPRU_ENST00000356870.3_Missense_Mutation_p.A1388V|PTPRU_ENST00000460170.2_Missense_Mutation_p.A1386V|PTPRU_ENST00000323874.8_Missense_Mutation_p.A1388V|PTPRU_ENST00000373779.3_Missense_Mutation_p.A1382V	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1392	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.A1392V(1)|p.A1386V(1)|p.A1388V(1)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		ACCTTCTGCGCCTGCGCCACG	0.577																																						uc001bru.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7						c.(4174-4176)GCC>GTC		protein tyrosine phosphatase, receptor type, U							97.0	87.0	90.0					1																	29651735		2203	4300	6503	SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29651735C>T	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.4175C>T	1.37:g.29651735C>T	ENSP00000334941:p.Ala1392Val					PTPRU_uc001brv.2_Missense_Mutation_p.A1388V|PTPRU_uc001brw.2_Missense_Mutation_p.A1382V|PTPRU_uc009vtq.2_Missense_Mutation_p.A1386V|PTPRU_uc009vtr.2_Missense_Mutation_p.A1379V|PTPRU_uc001brx.2_Missense_Mutation_p.A118V	p.A1392V	NM_005704	NP_005695	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	30	4285	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	1392			Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.4175C>T	CCDS334.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077736	0.76528	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26	4.1	4.1	0.47936	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.64402	U	0.000001	T	0.33059	0.0850	L	0.45422	1.42	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	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.02966	-1.1088	9	.	.	.	.	15.4919	0.75611	0.0:1.0:0.0:0.0	.	1379;1386;1382;1388;1392	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	V	1392;1382;1388;1388;1379;1386	ENSP00000334941:A1392V;ENSP00000362884:A1382V;ENSP00000349333:A1388V;ENSP00000314987:A1388V;ENSP00000392332:A1379V;ENSP00000432906:A1386V	.	A	+	2	0	PTPRU	29524322	1.000000	0.71417	1.000000	0.80357	0.200000	0.23975	7.651000	0.83577	2.097000	0.63578	0.561000	0.74099	GCC		0.577	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1				9	89	0	0	0	0.010729	0	9	89		
IL23R	149233	broad.mit.edu	37	1	67666418	67666418	+	Splice_Site	SNP	A	A	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr1:67666418A>C	ENST00000347310.5	+	5	662		c.e5-1		C1orf141_ENST00000371007.2_Intron|IL23R_ENST00000371002.1_Splice_Site	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor						defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)		p.?(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						TTTTGTTTTAAGTTTAGAGAC	0.373																																						uc001ddo.2		NaN																	1	Unknown(1)		urinary_tract(1)		0						c.e5-2		interleukin 23 receptor precursor							67.0	68.0	68.0					1																	67666418		2203	4300	6503	SO:0001630	splice_region_variant	149233				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	g.chr1:67666418A>C	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.492-1A>C	1.37:g.67666418A>C						IL23R_uc009waz.2_Intron|IL23R_uc001ddp.2_Splice_Site|IL23R_uc010opi.1_Splice_Site|IL23R_uc010opj.1_Intron|IL23R_uc010opk.1_Splice_Site_p.S121_splice|IL23R_uc010opl.1_Intron|IL23R_uc010opm.1_Splice_Site|IL23R_uc001ddq.2_Intron|IL23R_uc010opn.1_Splice_Site_p.I9_splice|IL23R_uc001ddr.2_Splice_Site|IL23R_uc010opo.1_Splice_Site_p.S23_splice|IL23R_uc010opp.1_Splice_Site|IL23R_uc010opq.1_Splice_Site_p.S23_splice|IL23R_uc010opr.1_Splice_Site|IL23R_uc010ops.1_Intron|IL23R_uc010opt.1_Splice_Site|IL23R_uc010opu.1_Intron|IL23R_uc010opv.1_Splice_Site_p.S23_splice|IL23R_uc010opw.1_Intron|IL23R_uc010opx.1_Intron|IL23R_uc010opy.1_Intron|IL23R_uc010opz.1_Intron|IL23R_uc010oqa.1_Splice_Site|IL23R_uc010oqb.1_Splice_Site_p.S23_splice|IL23R_uc010oqc.1_Intron|IL23R_uc010oqd.1_Intron|IL23R_uc010oqe.1_Intron|IL23R_uc010oqf.1_Intron|IL23R_uc010oqg.1_Splice_Site|IL23R_uc010oqh.1_Intron	p.S164_splice	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN			5	577	+								C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Splice_Site	SNP	ENST00000347310.5	37	c.492_splice	CCDS637.1	.	.	.	.	.	.	.	.	.	.	A	16.82	3.228946	0.58777	.	.	ENSG00000162594	ENST00000347310;ENST00000431791;ENST00000441823;ENST00000416525;ENST00000540911;ENST00000371002;ENST00000543799	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8155	0.57663	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL23R	67439006	0.997000	0.39634	0.966000	0.40874	0.749000	0.42624	4.736000	0.62059	2.279000	0.76181	0.533000	0.62120	.		0.373	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2		NM_144701	Intron	5	75	0	0	0	0.001168	0	5	75		
NRAS	4893	broad.mit.edu	37	1	115258745	115258745	+	Missense_Mutation	SNP	C	C	G	rs121434595		TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr1:115258745C>G	ENST00000369535.4	-	2	290	c.37G>C	c.(37-39)Ggt>Cgt	p.G13R	CSDE1_ENST00000483407.1_5'Flank	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	13			G -> D (in ALPS4). {ECO:0000269|PubMed:17517660}.|G -> R (in CMNS and colorectal cancer; somatic mutation). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:3102434}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G13R(76)|p.G13C(23)|p.G13S(5)|p.G13N(1)|p.G13Y(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCCCAACACCACCTGCTCCA	0.498	G13R(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.2	G13R(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			melanoma|MM|AML|thyroid		106	Substitution - Missense(106)	p.G13D(174)|p.G13R(59)|p.G13V(55)|p.G13C(21)|p.G13A(16)|p.G13S(5)|p.G13G(3)|p.G13N(1)|p.G13Y(1)	haematopoietic_and_lymphoid_tissue(66)|skin(24)|large_intestine(6)|stomach(4)|thyroid(2)|soft_tissue(1)|urinary_tract(1)|autonomic_ganglia(1)|NS(1)	haematopoietic_and_lymphoid_tissue(1008)|skin(956)|thyroid(334)|large_intestine(62)|NS(60)|soft_tissue(32)|lung(31)|upper_aerodigestive_tract(25)|urinary_tract(12)|liver(10)|adrenal_gland(9)|autonomic_ganglia(8)|testis(8)|central_nervous_system(8)|prostate(8)|breast(7)|biliary_tract(6)|ovary(6)|stomach(5)|pancreas(5)|endometrium(2)|kidney(2)|cervix(2)|eye(1)	2607						c.(37-39)GGT>CGT		neuroblastoma RAS viral (v-ras) oncogene homolog							207.0	184.0	192.0					1																	115258745		2203	4300	6503	SO:0001583	missense	4893	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115258745C>G	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.37G>C	1.37:g.115258745C>G	ENSP00000358548:p.Gly13Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.G13R	NM_002524	NP_002515	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	291	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	13		G -> D (in a patient with an autoimmune lymphoproliferative disorder).|G -> R (in colorectal cancer).	GTP.		Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.37G>C	CCDS877.1	.	.	.	.	.	.	.	.	.	.	C	36	5.675403	0.96764	.	.	ENSG00000213281	ENST00000369535	T	0.73575	-0.76	5.58	5.58	0.84498	Small GTP-binding protein domain (1);	0.000000	0.56097	U	0.000022	D	0.85204	0.5643	M	0.77103	2.36	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	D	0.85665	0.1291	10	0.87932	D	0	.	19.3769	0.94514	0.0:1.0:0.0:0.0	.	13	P01111	RASN_HUMAN	R	13	ENSP00000358548:G13R	ENSP00000358548:G13R	G	-	1	0	NRAS	115060268	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.906000	0.99361	0.655000	0.94253	GGT		0.498	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2		NM_002524		9	97	0	0	0	0.006214	0	9	97		
RUSC1	23623	broad.mit.edu	37	1	155294949	155294949	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr1:155294949G>A	ENST00000368352.5	+	4	1664	c.1513G>A	c.(1513-1515)Gcc>Acc	p.A505T	RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000292254.4_Missense_Mutation_p.A36T|RUSC1_ENST00000368347.4_Missense_Mutation_p.A95T|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368349.4_Missense_Mutation_p.A36T|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368354.3_Missense_Mutation_p.A505T	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	505	Interaction with TRAF6.				positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)	p.A505T(1)|p.A36T(1)|p.A95T(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TTTCGGGGCCGCCCGGAACTT	0.622											OREG0013860	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001fkj.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	ovary(2)	2						c.(1513-1515)GCC>ACC		RUN and SH3 domain containing 1 isoform a							80.0	91.0	87.0					1																	155294949		2203	4300	6503	SO:0001583	missense	23623					cytoplasm|nucleolus	SH3/SH2 adaptor activity	g.chr1:155294949G>A	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.1513G>A	1.37:g.155294949G>A	ENSP00000357336:p.Ala505Thr		OREG0013860	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1769	RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fki.2_5'Flank|RUSC1_uc001fkk.2_Missense_Mutation_p.A505T|RUSC1_uc009wqn.1_Intron|RUSC1_uc009wqo.1_Missense_Mutation_p.A36T|RUSC1_uc001fkl.2_Missense_Mutation_p.A95T|RUSC1_uc001fkp.2_Missense_Mutation_p.A36T|RUSC1_uc001fkq.2_Missense_Mutation_p.A36T|RUSC1_uc010pgb.1_Missense_Mutation_p.A36T|RUSC1_uc009wqp.1_5'UTR|RUSC1_uc001fkn.2_5'UTR|RUSC1_uc001fko.2_RNA|RUSC1_uc001fkr.2_Missense_Mutation_p.A36T|RUSC1_uc001fks.2_5'Flank	p.A505T	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		4	1742	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		505					B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	ENST00000368352.5	37	c.1513G>A	CCDS41410.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212706	0.58452	.	.	ENSG00000160753	ENST00000368354;ENST00000368352;ENST00000368347;ENST00000368349;ENST00000292254	T;T;T;T;T	0.34472	1.77;1.79;1.36;1.39;1.39	4.67	3.76	0.43208	.	0.000000	0.48286	D	0.000182	T	0.38081	0.1027	M	0.61703	1.905	0.23708	N	0.997054	D;B;D;P;D	0.71674	0.998;0.231;0.99;0.835;0.998	D;B;P;B;P	0.67548	0.952;0.01;0.727;0.137;0.842	T	0.15378	-1.0439	10	0.72032	D	0.01	-27.9075	8.6074	0.33782	0.1785:0.0:0.8215:0.0	.	36;36;95;110;505	B4DQB8;B3KWM9;Q5T9V0;Q9BT86;Q9BVN2	.;.;.;.;RUSC1_HUMAN	T	505;505;95;36;36	ENSP00000357338:A505T;ENSP00000357336:A505T;ENSP00000357331:A95T;ENSP00000357333:A36T;ENSP00000292254:A36T	ENSP00000292254:A36T	A	+	1	0	RUSC1	153561573	0.976000	0.34144	0.948000	0.38648	0.178000	0.23041	2.965000	0.49200	1.327000	0.45338	-0.136000	0.14681	GCC		0.622	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1				19	146	0	0	0	0.014323	0	19	146		
MPZ	4359	broad.mit.edu	37	1	161276712	161276712	+	Splice_Site	SNP	C	C	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr1:161276712C>A	ENST00000533357.1	-	3	301		c.e3-1		MPZ_ENST00000491222.2_Splice_Site|MPZ_ENST00000360451.6_Splice_Site|MPZ_ENST00000526189.1_5'Flank|MPZ_ENST00000336559.4_Splice_Site	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero						cell death (GO:0008219)|cell-cell junction maintenance (GO:0045217)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.?(1)		central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGTGGAAGATCTATGAGGAAT	0.478																																						uc001gaf.3		NaN																	1	Unknown(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.e3-1		myelin protein zero							104.0	95.0	98.0					1																	161276712		2203	4300	6503	SO:0001630	splice_region_variant	4359				synaptic transmission	integral to plasma membrane	structural molecule activity	g.chr1:161276712C>A	BC006491	CCDS1229.1, CCDS1229.2	1q22	2014-09-17	2008-08-01		ENSG00000158887	ENSG00000158887		"""Immunoglobulin superfamily / V-set domain containing"""	7225	protein-coding gene	gene with protein product		159440	"""Charcot-Marie-Tooth neuropathy 1B"""	CMT1, CMT1B		7693129	Standard	NM_000530		Approved	HMSNIB	uc001gaf.4	P25189	OTTHUMG00000034341	ENST00000533357.1:c.235-1G>T	1.37:g.161276712C>A						MPZ_uc010pko.1_Splice_Site	p.I89_splice	NM_000530	NP_000521	P25189	MYP0_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	302	-	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)						Q16072|Q5VTH4|Q92677|Q9BR67	Splice_Site	SNP	ENST00000533357.1	37	c.265_splice	CCDS1229.2	.	.	.	.	.	.	.	.	.	.	C	10.88	1.474169	0.26423	.	.	ENSG00000158887	ENST00000533357;ENST00000360451;ENST00000336559	.	.	.	4.7	3.79	0.43588	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8418	0.46720	0.0:0.9075:0.0:0.0925	.	.	.	.	.	-1	.	.	.	-	.	.	MPZ	159543336	1.000000	0.71417	0.980000	0.43619	0.389000	0.30415	5.367000	0.66127	1.196000	0.43129	-0.244000	0.11960	.		0.478	MPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082987.2		NM_000530	Intron	37	68	1	0	1.836e-18	0.003755	2.13644e-18	37	68		
EPRS	2058	broad.mit.edu	37	1	220195731	220195731	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr1:220195731C>T	ENST00000366923.3	-	9	1342	c.1073G>A	c.(1072-1074)cGc>cAc	p.R358H		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	358	Glutamate--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)	p.R358H(2)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	AATTTTGCAGCGATAAAGGGT	0.383																																						uc001hly.1		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|endometrium(1)	ovary(1)|skin(1)	2						c.(1072-1074)CGC>CAC		glutamyl-prolyl tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						268.0	255.0	260.0					1																	220195731		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220195731C>T	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.1073G>A	1.37:g.220195731C>T	ENSP00000355890:p.Arg358His					EPRS_uc010puf.1_Missense_Mutation_p.R109H|EPRS_uc001hlz.1_Missense_Mutation_p.R358H|EPRS_uc009xdt.1_Missense_Mutation_p.R159H	p.R358H	NM_004446	NP_004437	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	9	1343	-			358			Glutamyl-tRNA synthetase.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.1073G>A	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	C	35	5.571509	0.96553	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.26518	1.73	5.88	5.88	0.94601	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73869	0.3642	H	0.99659	4.685	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.85894	0.1430	10	0.87932	D	0	-12.7986	20.2405	0.98372	0.0:1.0:0.0:0.0	.	382;358;358;358	E7EMN0;F5H7I7;Q3KQZ8;P07814	.;.;.;SYEP_HUMAN	H	358;358;382	ENSP00000355890:R358H	ENSP00000355890:R358H	R	-	2	0	EPRS	218262354	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.280000	0.78610	2.797000	0.96272	0.561000	0.74099	CGC		0.383	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2		NM_004446		11	204	0	0	0	0.008291	0	11	204		
CUL2	8453	broad.mit.edu	37	10	35360158	35360158	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr10:35360158C>T	ENST00000374748.1	-	3	401	c.88G>A	c.(88-90)Gtc>Atc	p.V30I	CUL2_ENST00000478044.1_5'UTR|CUL2_ENST00000374751.3_Missense_Mutation_p.V30I|CUL2_ENST00000374749.3_Missense_Mutation_p.V30I|CUL2_ENST00000602371.1_5'UTR|CUL2_ENST00000374742.1_Missense_Mutation_p.V30I|CUL2_ENST00000537177.1_Missense_Mutation_p.V49I|CUL2_ENST00000374746.1_Missense_Mutation_p.V30I			Q13617	CUL2_HUMAN	cullin 2	30					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)	p.V30I(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						GCTCTTTCGACGTATTCCAAC	0.358																																						uc001ixv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(88-90)GTC>ATC		cullin 2							183.0	151.0	162.0					10																	35360158		2203	4300	6503	SO:0001583	missense	8453				cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:35360158C>T	U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.88G>A	10.37:g.35360158C>T	ENSP00000363880:p.Val30Ile					CUL2_uc009xma.2_5'UTR|CUL2_uc010qer.1_Missense_Mutation_p.V49I|CUL2_uc001ixw.2_Missense_Mutation_p.V30I|CUL2_uc010qes.1_Missense_Mutation_p.V30I	p.V30I	NM_003591	NP_003582	Q13617	CUL2_HUMAN			2	298	-			30					B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	37	c.88G>A	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277691	0.80692	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374742;ENST00000537177;ENST00000421317	T;T;T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84	5.92	5.92	0.95590	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.66819	0.2828	N	0.25286	0.73	0.80722	D	1	P;P;P	0.48640	0.913;0.663;0.711	P;B;B	0.46076	0.503;0.238;0.351	T	0.61973	-0.6952	10	0.09084	T	0.74	-16.1148	20.3206	0.98668	0.0:1.0:0.0:0.0	.	30;49;30	Q5T2B5;G3V1S2;Q13617	.;.;CUL2_HUMAN	I	30;30;30;30;30;49;30	ENSP00000363883:V30I;ENSP00000363880:V30I;ENSP00000363878:V30I;ENSP00000363881:V30I;ENSP00000363874:V30I;ENSP00000444856:V49I;ENSP00000414095:V30I	ENSP00000363874:V30I	V	-	1	0	CUL2	35400164	1.000000	0.71417	0.787000	0.31911	0.825000	0.46686	7.487000	0.81328	2.809000	0.96659	0.655000	0.94253	GTC		0.358	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1		NM_003591		12	70	0	0	0	0.001855	0	12	70		
HK1	3098	broad.mit.edu	37	10	71149006	71149006	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr10:71149006G>A	ENST00000359426.6	+	14	2093	c.1989G>A	c.(1987-1989)atG>atA	p.M663I	HK1_ENST00000448642.2_Missense_Mutation_p.M698I|HK1_ENST00000298649.3_Missense_Mutation_p.M662I|HK1_ENST00000360289.2_Missense_Mutation_p.M651I|HK1_ENST00000404387.2_Missense_Mutation_p.M667I	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	663	Catalytic.|Hexokinase type-1 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.M667I(1)|p.M662I(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GCACCATGATGACCTGTGCTT	0.527																																						uc001jpl.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(1987-1989)ATG>ATA		hexokinase 1 isoform HKI							205.0	151.0	169.0					10																	71149006		2203	4300	6503	SO:0001583	missense	3098				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	g.chr10:71149006G>A	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.1989G>A	10.37:g.71149006G>A	ENSP00000352398:p.Met663Ile					HK1_uc001jpg.3_Missense_Mutation_p.M651I|HK1_uc001jph.3_Missense_Mutation_p.M667I|HK1_uc001jpi.3_Missense_Mutation_p.M667I|HK1_uc001jpj.3_Missense_Mutation_p.M698I|HK1_uc001jpk.3_Missense_Mutation_p.M662I|HK1_uc009xqd.2_Missense_Mutation_p.M541I	p.M663I	NM_000188	NP_000179	P19367	HXK1_HUMAN			14	2090	+			663			Catalytic.		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	ENST00000359426.6	37	c.1989G>A	CCDS7292.1	.	.	.	.	.	.	.	.	.	.	G	31	5.086609	0.94100	.	.	ENSG00000156515	ENST00000360289;ENST00000448642;ENST00000404387;ENST00000298649;ENST00000359426;ENST00000405407	D;D;D;D;D	0.98207	-4.79;-4.79;-4.79;-4.79;-4.79	5.82	5.82	0.92795	Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98614	0.9536	L	0.60067	1.865	0.80722	D	1	P;P;D;D;D;D	0.89917	0.693;0.918;0.999;0.998;0.997;1.0	P;D;D;D;D;D	0.87578	0.806;0.915;0.998;0.988;0.998;0.992	D	0.98554	1.0638	10	0.34782	T	0.22	-46.2558	19.6856	0.95978	0.0:0.0:1.0:0.0	.	663;663;662;698;667;651	A8K7J7;P19367;P19367-2;E7ENR4;P19367-3;P19367-4	.;HXK1_HUMAN;.;.;.;.	I	651;698;667;662;663;663	ENSP00000353433:M651I;ENSP00000402103:M698I;ENSP00000384774:M667I;ENSP00000298649:M662I;ENSP00000352398:M663I	ENSP00000298649:M662I	M	+	3	0	HK1	70819012	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.779000	0.85648	2.762000	0.94881	0.650000	0.86243	ATG		0.527	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2		NM_000188		3	15	0	0	0	0.004672	0	3	15		
PALD1	27143	broad.mit.edu	37	10	72292376	72292376	+	Splice_Site	SNP	G	G	T	rs370081067		TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr10:72292376G>T	ENST00000263563.6	+	6	901		c.e6-1			NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1							cytosol (GO:0005829)		p.?(1)									CCTCCCTCTAGATCCACGACT	0.597																																						uc001jrd.3		NaN																	1	Unknown(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.e6-1		KIAA1274		G		0,4406		0,0,2203	101.0	89.0	93.0			4.9	1.0	10		93	1,8599	1.2+/-3.3	0,1,4299	no	splice-3	KIAA1274	NM_014431.2		0,1,6502	TT,TG,GG		0.0116,0.0,0.0077			72292376	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	27143							g.chr10:72292376G>T	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.634-1G>T	10.37:g.72292376G>T							p.I212_splice	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN			6	915	+								B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Splice_Site	SNP	ENST00000263563.6	37	c.634_splice	CCDS31215.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491251	0.84962	0.0	1.16E-4	ENSG00000107719	ENST00000263563;ENST00000373214	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6516	0.91433	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1274	71962382	1.000000	0.71417	0.997000	0.53966	0.937000	0.57800	9.187000	0.94912	2.666000	0.90696	0.561000	0.74099	.		0.597	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2		NM_014431	Intron	4	70	1	0	0.00909568	0.009096	0.00938909	4	70		
C10orf54	64115	broad.mit.edu	37	10	73521607	73521607	+	Missense_Mutation	SNP	G	G	A	rs536277622		TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr10:73521607G>A	ENST00000394957.3	-	2	317	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W	C10orf54_ENST00000481568.2_5'UTR|CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	87	Ig-like.				BMP signaling pathway (GO:0030509)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of T cell cytokine production (GO:0002725)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of stem cell differentiation (GO:2000738)|stem cell differentiation (GO:0048863)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.R87W(1)		breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CGGATGGGCCGGCGCTCTGAG	0.652													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20512	0.0		0.0	False		,,,				2504	0.0					uc001jsd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(259-261)CGG>TGG		platelet receptor Gi24 precursor							106.0	100.0	102.0					10																	73521607		2203	4300	6503	SO:0001583	missense	64115					integral to membrane	receptor activity	g.chr10:73521607G>A	AF193048	CCDS31218.1	10q22.1	2013-11-28			ENSG00000107738	ENSG00000107738		"""Immunoglobulin superfamily / V-set domain containing"""	30085	protein-coding gene	gene with protein product	"""stress induced secreted protein 1"""	615608				12975309	Standard	NM_022153		Approved	SISP1, GI24, B7-H5, B7H5	uc001jsd.3	Q9H7M9	OTTHUMG00000018426	ENST00000394957.3:c.259C>T	10.37:g.73521607G>A	ENSP00000378409:p.Arg87Trp					CDH23_uc001jrx.3_Intron|C10orf54_uc001jse.2_5'UTR|C10orf54_uc009xqm.2_Intron|C10orf54_uc001jsf.1_Missense_Mutation_p.R87W	p.R87W	NM_022153	NP_071436	Q9H7M9	GI24_HUMAN			2	400	-			87			Ig-like.|Extracellular (Potential).		A1L0X9|A4ZYV1|A8MVH5|Q6UXF3|Q8WUG3|Q8WYZ8	Missense_Mutation	SNP	ENST00000394957.3	37	c.259C>T	CCDS31218.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950098	0.73787	.	.	ENSG00000107738	ENST00000394957;ENST00000263569	T	0.66280	-0.2	5.75	2.46	0.29980	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.644996	0.15893	N	0.239460	T	0.76364	0.3977	M	0.69823	2.125	0.41536	D	0.988483	D;D	0.89917	1.0;0.999	D;D	0.63703	0.917;0.91	T	0.80223	-0.1471	10	0.87932	D	0	-2.7516	16.1694	0.81793	0.0:0.0:0.5421:0.4579	.	83;87	Q2TA85;Q9H7M9	.;GI24_HUMAN	W	87;83	ENSP00000378409:R87W	ENSP00000263569:R83W	R	-	1	2	C10orf54	73191613	0.000000	0.05858	1.000000	0.80357	0.989000	0.77384	0.089000	0.15002	0.728000	0.32382	0.655000	0.94253	CGG		0.652	C10orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048548.1		NM_022153		3	43	0	0	0	0.004672	0	3	43		
ECD	11319	broad.mit.edu	37	10	74896575	74896575	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr10:74896575C>T	ENST00000372979.4	-	13	1797	c.1591G>A	c.(1591-1593)Gaa>Aaa	p.E531K	ECD_ENST00000454759.2_Missense_Mutation_p.E488K|ECD_ENST00000430082.2_Missense_Mutation_p.E564K	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	531					cell proliferation (GO:0008283)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of glycolytic process (GO:0006110)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.E531K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					GAAGCCTCTTCGCCAGGTTCG	0.448																																						uc001jtn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)	1						c.(1591-1593)GAA>AAA		suppressor of S. cerevisiae gcr2 isoform 1							296.0	266.0	276.0					10																	74896575		2203	4300	6503	SO:0001583	missense	11319				regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity	g.chr10:74896575C>T	BC000721	CCDS7321.1, CCDS44433.1, CCDS44434.1	10q22.3	2006-02-07				ENSG00000122882			17029	protein-coding gene	gene with protein product						9928932, 15128659	Standard	NM_007265		Approved	hSGT1, GCR2	uc001jtn.3	O95905		ENST00000372979.4:c.1591G>A	10.37:g.74896575C>T	ENSP00000362070:p.Glu531Lys					ECD_uc009xqx.2_Missense_Mutation_p.E564K|ECD_uc009xqy.2_Missense_Mutation_p.E488K|ECD_uc001jto.2_Missense_Mutation_p.E230K	p.E531K	NM_007265	NP_009196	O95905	SGT1_HUMAN			13	1834	-	Prostate(51;0.0119)		531					C9JX46|E9PAW8	Missense_Mutation	SNP	ENST00000372979.4	37	c.1591G>A	CCDS7321.1	.	.	.	.	.	.	.	.	.	.	C	9.534	1.111644	0.20714	.	.	ENSG00000122882	ENST00000372979;ENST00000430082;ENST00000454759	T;T;T	0.19532	2.14;2.14;2.14	5.27	4.37	0.52481	.	0.465094	0.24576	N	0.037345	T	0.20700	0.0498	M	0.66939	2.045	0.38799	D	0.955159	P;D;P	0.54964	0.776;0.969;0.81	B;P;B	0.44561	0.147;0.453;0.196	T	0.18272	-1.0342	10	0.07175	T	0.84	-8.2026	8.2674	0.31821	0.0:0.8199:0.0:0.1801	.	488;564;531	E9PAW8;C9JX46;O95905	.;.;SGT1_HUMAN	K	531;564;488	ENSP00000362070:E531K;ENSP00000401566:E564K;ENSP00000395786:E488K	ENSP00000362070:E531K	E	-	1	0	ECD	74566581	0.002000	0.14202	0.824000	0.32777	0.167000	0.22549	1.181000	0.32017	1.210000	0.43336	-0.150000	0.13652	GAA		0.448	ECD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048606.1		NM_007265		9	165	0	0	0	0.006214	0	9	165		
SORCS1	114815	broad.mit.edu	37	10	108459108	108459108	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr10:108459108G>A	ENST00000263054.6	-	9	1284	c.1277C>T	c.(1276-1278)gCg>gTg	p.A426V	SORCS1_ENST00000344440.6_Missense_Mutation_p.A426V|SORCS1_ENST00000369698.1_5'UTR	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	426					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.A426V(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TTCTTGGACCGCTGCGAACAC	0.478																																						uc001kym.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	breast(1)|central_nervous_system(1)	2						c.(1276-1278)GCG>GTG		SORCS receptor 1 isoform a							227.0	177.0	194.0					10																	108459108		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108459108G>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1277C>T	10.37:g.108459108G>A	ENSP00000263054:p.Ala426Val					SORCS1_uc001kyl.2_Missense_Mutation_p.A426V|SORCS1_uc009xxs.2_Missense_Mutation_p.A426V|SORCS1_uc001kyn.1_Missense_Mutation_p.A426V|SORCS1_uc001kyo.2_Missense_Mutation_p.A426V	p.A426V	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	9	1285	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	426			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.1277C>T	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459247	0.84317	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.56941	0.43;0.43	6.16	6.16	0.99307	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.73705	0.3621	M	0.78456	2.415	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.999;0.999;0.998;0.999	P;D;D;P;D	0.64237	0.84;0.923;0.923;0.84;0.923	T	0.71421	-0.4598	9	.	.	.	-19.8846	20.8598	0.99761	0.0:0.0:1.0:0.0	.	426;426;426;426;426	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	V	426	ENSP00000263054:A426V;ENSP00000345964:A426V	.	A	-	2	0	SORCS1	108449098	1.000000	0.71417	0.945000	0.38365	0.249000	0.25844	9.405000	0.97313	2.937000	0.99478	0.650000	0.86243	GCG		0.478	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4		NM_052918		5	34	0	0	0	0.001168	0	5	34		
TRUB1	142940	broad.mit.edu	37	10	116731913	116731913	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr10:116731913G>C	ENST00000298746.3	+	6	677	c.616G>C	c.(616-618)Gat>Cat	p.D206H	RNU6-1121P_ENST00000516802.1_RNA	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	206					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.D206H(1)		breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		ATTAAAGAAAGATGGACAAAG	0.413																																						uc001lcd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(616-618)GAT>CAT		TruB pseudouridine (psi) synthase homolog 1							83.0	83.0	83.0					10																	116731913		2203	4300	6503	SO:0001583	missense	142940				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr10:116731913G>C	AF448144	CCDS7591.1	10q25.3	2013-09-02	2013-09-02		ENSG00000165832	ENSG00000165832			16060	protein-coding gene	gene with protein product		610726	"""TruB pseudouridine (psi) synthase homolog 1 (E. coli)"""			12736709	Standard	NM_139169		Approved	PUS4	uc001lcd.3	Q8WWH5	OTTHUMG00000019094	ENST00000298746.3:c.616G>C	10.37:g.116731913G>C	ENSP00000298746:p.Asp206His					TRUB1_uc010qsl.1_Missense_Mutation_p.D108H	p.D206H	NM_139169	NP_631908	Q8WWH5	TRUB1_HUMAN		Epithelial(162;0.00879)|all cancers(201;0.0243)	6	677	+		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)	206					B2R716|Q53ES2	Missense_Mutation	SNP	ENST00000298746.3	37	c.616G>C	CCDS7591.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357086	0.61293	.	.	ENSG00000165832	ENST00000298746	T	0.15372	2.43	5.52	5.52	0.82312	Pseudouridine synthase, catalytic domain (1);	0.102199	0.64402	D	0.000004	T	0.26810	0.0656	M	0.69185	2.1	0.58432	D	0.999997	B	0.34241	0.444	B	0.37943	0.261	T	0.02975	-1.1087	10	0.72032	D	0.01	-14.6338	17.6408	0.88136	0.0:0.0:1.0:0.0	.	206	Q8WWH5	TRUB1_HUMAN	H	206	ENSP00000298746:D206H	ENSP00000298746:D206H	D	+	1	0	TRUB1	116721903	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.927000	0.87577	2.590000	0.87494	0.655000	0.94253	GAT		0.413	TRUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050504.1		NM_139169		21	34	0	0	0	0.014323	0	21	34		
SEC23IP	11196	broad.mit.edu	37	10	121677504	121677504	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr10:121677504G>C	ENST00000369075.3	+	9	1773	c.1701G>C	c.(1699-1701)atG>atC	p.M567I	SEC23IP_ENST00000543134.1_Missense_Mutation_p.M356I	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	567					acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.M567I(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CACTCTTTATGAGTCGGAACC	0.363																																						uc001leu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(1699-1701)ATG>ATC		Sec23-interacting protein p125							97.0	97.0	97.0					10																	121677504		2203	4300	6503	SO:0001583	missense	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121677504G>C	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.1701G>C	10.37:g.121677504G>C	ENSP00000358071:p.Met567Ile					SEC23IP_uc010qtc.1_Missense_Mutation_p.M356I|SEC23IP_uc009xzk.1_5'Flank	p.M567I	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	9	1773	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	567					D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	c.1701G>C	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.153061	0.57259	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	T;T	0.30448	1.53;1.53	5.62	4.67	0.58626	.	0.142348	0.85682	D	0.000000	T	0.26484	0.0647	L	0.41356	1.27	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.04255	-1.0965	10	0.17832	T	0.49	-10.3588	17.1878	0.86871	0.0:0.1257:0.8743:0.0	.	356;567	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	I	567;356	ENSP00000358071:M567I;ENSP00000438773:M356I	ENSP00000358071:M567I	M	+	3	0	SEC23IP	121667494	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.648000	0.83479	2.809000	0.96659	0.655000	0.94253	ATG		0.363	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1				10	82	0	0	0	0.010729	0	10	82		
DCHS1	8642	broad.mit.edu	37	11	6661191	6661191	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr11:6661191C>T	ENST00000299441.3	-	2	2065	c.1654G>A	c.(1654-1656)Gat>Aat	p.D552N		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	552	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D552N(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGCCACCATCTGTGGCCACC	0.547																																						uc001mem.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|large_intestine(1)|pancreas(1)	5						c.(1654-1656)GAT>AAT		dachsous 1 precursor							86.0	87.0	86.0					11																	6661191		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6661191C>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.1654G>A	11.37:g.6661191C>T	ENSP00000299441:p.Asp552Asn						p.D552N	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	2064	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	552			Extracellular (Potential).|Cadherin 5.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.1654G>A	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174818	0.78564	.	.	ENSG00000166341	ENST00000299441	T	0.79940	-1.32	5.18	5.18	0.71444	Cadherin (4);Cadherin-like (1);	0.355526	0.20375	N	0.093580	D	0.92133	0.7506	M	0.92923	3.36	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.92459	0.5976	10	0.44086	T	0.13	.	18.0581	0.89369	0.0:1.0:0.0:0.0	.	552	Q96JQ0	PCD16_HUMAN	N	552	ENSP00000299441:D552N	ENSP00000299441:D552N	D	-	1	0	DCHS1	6617767	1.000000	0.71417	0.973000	0.42090	0.783000	0.44284	7.759000	0.85235	2.588000	0.87417	0.579000	0.79373	GAT		0.547	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1		NM_003737		13	82	0	0	0	0.013537	0	13	82		
PPFIBP2	8495	broad.mit.edu	37	11	7642183	7642183	+	Silent	SNP	C	C	T	rs150433585	byFrequency	TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr11:7642183C>T	ENST00000299492.4	+	7	1024	c.636C>T	c.(634-636)ctC>ctT	p.L212L	PPFIBP2_ENST00000530181.1_Silent_p.L69L|PPFIBP2_ENST00000528883.1_Silent_p.L100L|PPFIBP2_ENST00000533792.1_Silent_p.L54L	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	212					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)	p.L212L(1)		breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TGCAAGAGCTCAGGCACCTCA	0.423																																						uc001mfj.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|breast(2)	4						c.(634-636)CTC>CTT		PTPRF interacting protein, binding protein 2							121.0	113.0	116.0					11																	7642183		2201	4296	6497	SO:0001819	synonymous_variant	8495				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7642183C>T	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.636C>T	11.37:g.7642183C>T						PPFIBP2_uc010rbb.1_Silent_p.L135L|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.1_Silent_p.L135L|PPFIBP2_uc010rbd.1_Silent_p.L54L|PPFIBP2_uc010rbe.1_Silent_p.L100L|PPFIBP2_uc001mfl.3_Silent_p.L69L	p.L212L	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	7	1024	+			212			Potential.		B7Z433|E9PK77|O75337|Q8WW26	Silent	SNP	ENST00000299492.4	37	c.636C>T	CCDS31419.1																																																																																				0.423	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2		NM_003621		36	29	0	0	0	0.00874	0	36	29		
CDCA5	113130	broad.mit.edu	37	11	64846850	64846850	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr11:64846850T>A	ENST00000275517.3	-	5	825	c.653A>T	c.(652-654)aAg>aTg	p.K218M	CDCA5_ENST00000404147.3_Missense_Mutation_p.K218M	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	218					double-strand break repair (GO:0006302)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|regulation of cohesin localization to chromatin (GO:0071922)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.K218M(1)		large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TTTCTTCTTCTTACGTTTCTG	0.567																																						uc001ocp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(652-654)AAG>ATG		cell division cycle associated 5							100.0	109.0	106.0					11																	64846850		2201	4297	6498	SO:0001583	missense	113130				cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding	g.chr11:64846850T>A	BG354578	CCDS8091.1	11q13.1	2011-01-31			ENSG00000146670	ENSG00000146670			14626	protein-coding gene	gene with protein product	"""sororin"""	609374				12188893, 15837422	Standard	NM_080668		Approved		uc001ocp.2	Q96FF9	OTTHUMG00000150420	ENST00000275517.3:c.653A>T	11.37:g.64846850T>A	ENSP00000275517:p.Lys218Met						p.K218M	NM_080668	NP_542399	Q96FF9	CDCA5_HUMAN			5	818	-			218					A8K625	Missense_Mutation	SNP	ENST00000275517.3	37	c.653A>T	CCDS8091.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.93|14.93	2.683125|2.683125	0.47991|0.47991	.|.	.|.	ENSG00000146670|ENSG00000146670	ENST00000525464;ENST00000275517;ENST00000404147|ENST00000529290	T;T|.	0.56776|.	0.6;0.44|.	5.11|5.11	1.25|1.25	0.21368|0.21368	.|.	0.142736|.	0.64402|.	D|.	0.000014|.	T|.	0.21062|.	0.0507|.	N|N	0.19112|0.19112	0.55|0.55	0.18873|0.18873	N|N	0.999987|0.999987	D|.	0.63046|.	0.992|.	P|.	0.54401|.	0.751|.	T|.	0.22312|.	-1.0220|.	10|.	0.87932|.	D|.	0|.	.|.	4.4713|4.4713	0.11714|0.11714	0.0:0.204:0.1731:0.6229|0.0:0.204:0.1731:0.6229	.|.	218|.	Q96FF9|.	CDCA5_HUMAN|.	M|Y	13;218;218|4	ENSP00000275517:K218M;ENSP00000385711:K218M|.	ENSP00000275517:K218M|.	K|X	-|-	2|3	0|2	CDCA5|CDCA5	64603426|64603426	0.953000|0.953000	0.32496|0.32496	0.852000|0.852000	0.33557|0.33557	0.274000|0.274000	0.26718|0.26718	0.481000|0.481000	0.22260|0.22260	0.791000|0.791000	0.33826|0.33826	0.377000|0.377000	0.23210|0.23210	AAG|TAA		0.567	CDCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385186.1		NM_080668		4	50	0	0	0	0.000602	0	4	50		
PRCP	5547	broad.mit.edu	37	11	82549509	82549509	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr11:82549509C>G	ENST00000313010.3	-	8	1388	c.1194G>C	c.(1192-1194)tgG>tgC	p.W398C	PRCP_ENST00000393399.2_Missense_Mutation_p.W419C|PRCP_ENST00000535099.1_Missense_Mutation_p.W293C|PRCP_ENST00000525772.1_5'UTR	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	398					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)	p.W398C(1)|p.W419C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						GTCTCACACCCCACTGTTGAA	0.418																																						uc001ozs.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(1)	1						c.(1192-1194)TGG>TGC		prolylcarboxypeptidase isoform 1 preproprotein							136.0	120.0	126.0					11																	82549509		2203	4300	6503	SO:0001583	missense	5547				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity	g.chr11:82549509C>G	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.1194G>C	11.37:g.82549509C>G	ENSP00000317362:p.Trp398Cys					PRCP_uc001ozr.2_Missense_Mutation_p.W419C	p.W398C	NM_005040	NP_005031	P42785	PCP_HUMAN			8	1307	-			398					A8MU24|B2R7B7|B3KRK5|B5BU34	Missense_Mutation	SNP	ENST00000313010.3	37	c.1194G>C	CCDS8262.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.292192	0.59976	.	.	ENSG00000137509	ENST00000313010;ENST00000393399;ENST00000535099	T;T;T	0.13778	2.56;2.56;2.56	6.06	5.14	0.70334	.	0.109437	0.64402	D	0.000003	T	0.46386	0.1390	M	0.89840	3.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.988;0.992	T	0.58434	-0.7637	9	.	.	.	-9.9724	17.0055	0.86392	0.1281:0.8719:0.0:0.0	.	398;419	P42785;A8MU24	PCP_HUMAN;.	C	398;419;293	ENSP00000317362:W398C;ENSP00000377055:W419C;ENSP00000442077:W293C	.	W	-	3	0	PRCP	82227157	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	3.216000	0.51176	1.549000	0.49425	0.655000	0.94253	TGG		0.418	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1		NM_005040		11	31	0	0	0	0.010729	0	11	31		
CASP4	837	broad.mit.edu	37	11	104825572	104825573	+	Missense_Mutation	DNP	CG	CG	AA			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr11:104825572_104825573CG>AA	ENST00000444739.2	-	2	1073_1074	c.163_164CG>TT	c.(163-165)CGg>TTg	p.R55L	CASP4_ENST00000531333.1_5'UTR|CASP4_ENST00000393150.3_5'UTR	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	55	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)	p.R55>?(1)|p.R55W(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		TGCCATGACCCGAACTTTGTCT	0.386																																						uc001pid.1		NaN																	2	Substitution - Missense(1)|Complex(1)		urinary_tract(2)	lung(2)|ovary(1)|skin(1)	4						c.(163-165)CGG>TTG		caspase 4 isoform alpha precursor																																				SO:0001583	missense	837				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104825572_104825573CG>AA	U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"""Caspases"""	1505	protein-coding gene	gene with protein product		602664	"""caspase 4, apoptosis-related cysteine protease"""			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.163_164delinsAA	11.37:g.104825572_104825573delinsAA	ENSP00000388566:p.Arg55Leu					CASP4_uc001pib.1_5'UTR|CASP4_uc009yxg.1_5'UTR|CASP4_uc010rux.1_Missense_Mutation_p.R55L|CASP4_uc010ruy.1_Missense_Mutation_p.R55L	p.R55L	NM_001225	NP_001216	P49662	CASP4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)	2	236_237	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	55			CARD.		A2NHL8|A2NHM0	Missense_Mutation	DNP	ENST00000444739.2	37	c.163_164CG>TT	CCDS8327.1																																																																																				0.386	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1		NM_001225		9	87	0	0	0	0.004672	0	9	87		
C11orf87	399947	broad.mit.edu	37	11	109294575	109294575	+	Silent	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr11:109294575C>T	ENST00000327419.6	+	2	619	c.216C>T	c.(214-216)ttC>ttT	p.F72F	RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	72						integral component of membrane (GO:0016021)		p.F72F(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						CCCTCATCTTCTGCCTCATCG	0.572																																						uc001pkn.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)	2						c.(214-216)TTC>TTT		hypothetical protein LOC399947 precursor							193.0	157.0	169.0					11																	109294575		2201	4298	6499	SO:0001819	synonymous_variant	399947					integral to membrane		g.chr11:109294575C>T	AB096240, BC035798	CCDS31672.1	11q22.3	2013-12-13	2013-12-13	2013-12-13	ENSG00000185742	ENSG00000185742			33788	protein-coding gene	gene with protein product	"""neuronal integral membrane protein 1"""					12477932	Standard	NM_207645		Approved	LOH11CR1A, LOC399947, NEURIM1	uc010rwb.2	Q6NUJ2		ENST00000327419.6:c.216C>T	11.37:g.109294575C>T						C11orf87_uc010rwb.1_5'Flank	p.F72F	NM_207645	NP_997528	Q6NUJ2	CK087_HUMAN			2	590	+			72			Helical; (Potential).		B4E169	Silent	SNP	ENST00000327419.6	37	c.216C>T	CCDS31672.1																																																																																				0.572	C11orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390403.1		NM_207645		8	71	0	0	0	0.00308	0	8	71		
OR6T1	219874	broad.mit.edu	37	11	123813872	123813872	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr11:123813872A>G	ENST00000321252.2	-	1	708	c.674T>C	c.(673-675)gTt>gCt	p.V225A		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V225A(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GGCCCTGAGAACAGTGGCAAG	0.527																																						uc010sab.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(673-675)GTT>GCT		olfactory receptor, family 6, subfamily T,							89.0	83.0	85.0					11																	123813872		2202	4299	6501	SO:0001583	missense	219874				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123813872A>G	AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.674T>C	11.37:g.123813872A>G	ENSP00000325203:p.Val225Ala						p.V225A	NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	674	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	225			Cytoplasmic (Potential).		Q6IFE7	Missense_Mutation	SNP	ENST00000321252.2	37	c.674T>C	CCDS31700.1	.	.	.	.	.	.	.	.	.	.	A	11.97	1.798931	0.31777	.	.	ENSG00000181499	ENST00000321252	T	0.00316	8.13	3.7	1.32	0.21799	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00608	0.0020	M	0.91249	3.19	0.09310	N	1	D	0.53462	0.96	P	0.59115	0.852	T	0.39840	-0.9594	9	0.87932	D	0	-57.4418	6.45	0.21898	0.7786:0.0:0.2214:0.0	.	225	Q8NGN1	OR6T1_HUMAN	A	225	ENSP00000325203:V225A	ENSP00000325203:V225A	V	-	2	0	OR6T1	123319082	0.000000	0.05858	0.003000	0.11579	0.495000	0.33615	1.100000	0.31025	0.064000	0.16427	0.460000	0.39030	GTT		0.527	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1		NM_001005187		6	47	0	0	0	0.001168	0	6	47		
OPCML	4978	broad.mit.edu	37	11	132306671	132306671	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr11:132306671G>A	ENST00000331898.7	-	5	1245	c.667C>T	c.(667-669)Cct>Tct	p.P223S	OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Missense_Mutation_p.P216S|OPCML_ENST00000541867.1_Missense_Mutation_p.P223S|OPCML_ENST00000374778.4_Missense_Mutation_p.P182S	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	223	Ig-like C2-type 3.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)	p.P216S(1)|p.P223S(1)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		ATATAGGGAGGATCTGTGGGA	0.512																																						uc001qgs.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|skin(1)	3						c.(667-669)CCT>TCT		opioid binding protein/cell adhesion							100.0	86.0	91.0					11																	132306671		2201	4297	6498	SO:0001583	missense	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132306671G>A	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.667C>T	11.37:g.132306671G>A	ENSP00000330862:p.Pro223Ser					OPCML_uc001qgu.2_Missense_Mutation_p.P216S|OPCML_uc010sck.1_Missense_Mutation_p.P223S|OPCML_uc001qgt.2_Missense_Mutation_p.P222S|OPCML_uc010scl.1_Missense_Mutation_p.P182S	p.P223S	NM_002545	NP_002536	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	5	717	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	223			Ig-like C2-type 3.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	c.667C>T	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	G	32	5.163199	0.94727	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	5.68	5.68	0.88126	Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	D	0.88880	0.6557	M	0.90595	3.13	0.80722	D	1	D;D;D;D	0.65815	0.995;0.995;0.988;0.995	D;D;P;D	0.68039	0.951;0.919;0.893;0.955	D	0.90299	0.4328	10	0.66056	D	0.02	-13.4811	19.3953	0.94604	0.0:0.0:1.0:0.0	.	223;216;222;223	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	S	223;216;182;190;223	ENSP00000330862:P223S;ENSP00000434750:P216S;ENSP00000363910:P182S;ENSP00000445496:P223S	ENSP00000330862:P223S	P	-	1	0	OPCML	131811881	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.612000	0.82975	2.671000	0.90904	0.650000	0.86243	CCT		0.512	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3		NM_001012393		3	20	0	0	0	0.004672	0	3	20		
KCNA1	3736	broad.mit.edu	37	12	5020706	5020706	+	Silent	SNP	C	C	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr12:5020706C>A	ENST00000382545.3	+	2	1269	c.162C>A	c.(160-162)acC>acA	p.T54T	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	54					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)	p.T54T(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	AGCTCAAGACCCTGGCGCAGT	0.637																																						uc001qnh.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(160-162)ACC>ACA		potassium voltage-gated channel subfamily A	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						51.0	52.0	52.0					12																	5020706		2203	4300	6503	SO:0001819	synonymous_variant	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5020706C>A	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.162C>A	12.37:g.5020706C>A							p.T54T	NM_000217	NP_000208	Q09470	KCNA1_HUMAN			2	1267	+			54					A6NM83|Q3MIQ9	Silent	SNP	ENST00000382545.3	37	c.162C>A	CCDS8535.1																																																																																				0.637	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2		NM_000217		23	50	1	0	2.21704e-12	0.00278	2.55658e-12	23	50		
ABCC9	10060	broad.mit.edu	37	12	22015990	22015990	+	Splice_Site	SNP	T	T	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr12:22015990T>A	ENST00000261201.4	-	18	2237		c.e18-2		RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Splice_Site|ABCC9_ENST00000261200.4_Splice_Site	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9						defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.?(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CTGTTCCTACTGAAAAATGAA	0.318																																						uc001rfi.1		NaN																	2	Unknown(2)		urinary_tract(2)	ovary(4)|skin(2)	6						c.e18-1		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						35.0	36.0	36.0					12																	22015990		2193	4300	6493	SO:0001630	splice_region_variant	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22015990T>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.2238-2A>T	12.37:g.22015990T>A						ABCC9_uc001rfh.2_Splice_Site_p.S746_splice|ABCC9_uc001rfj.1_Splice_Site_p.S710_splice	p.S746_splice	NM_005691	NP_005682	O60706	ABCC9_HUMAN			18	2258	-								O60707	Splice_Site	SNP	ENST00000261201.4	37	c.2238_splice	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.981640	0.74474	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9764	0.71277	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCC9	21907257	1.000000	0.71417	0.997000	0.53966	0.804000	0.45430	4.626000	0.61269	2.198000	0.70561	0.482000	0.46254	.		0.318	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1		NM_005691	Intron	4	44	0	0	0	0.009096	0	4	44		
RNFT2	84900	broad.mit.edu	37	12	117274059	117274059	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr12:117274059T>C	ENST00000257575.4	+	10	1405	c.1172T>C	c.(1171-1173)tTc>tCc	p.F391S	RNFT2_ENST00000319176.7_Intron|RNFT2_ENST00000392549.2_Missense_Mutation_p.F391S|RNFT2_ENST00000407967.3_Missense_Mutation_p.F391S|RNFT2_ENST00000551251.1_3'UTR			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	391						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.F391S(1)|p.F301S(1)		endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		CAGGCCGAGTTCCGAGAGCCT	0.602																																						uc009zwn.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(1171-1173)TTC>TCC		transmembrane protein 118 isoform 1							31.0	27.0	28.0					12																	117274059		2203	4299	6502	SO:0001583	missense	84900					integral to membrane	zinc ion binding	g.chr12:117274059T>C	AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"""RING-type (C3HC4) zinc fingers"""	25905	protein-coding gene	gene with protein product			"""transmembrane protein 118"""	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.1172T>C	12.37:g.117274059T>C	ENSP00000257575:p.Phe391Ser					RNFT2_uc001twb.3_Missense_Mutation_p.F391S|RNFT2_uc001twa.3_Missense_Mutation_p.F301S|RNFT2_uc001twc.3_Missense_Mutation_p.F139S	p.F391S	NM_001109903	NP_001103373	Q96EX2	RNFT2_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.034)	10	1405	+	all_neural(191;0.117)|Medulloblastoma(191;0.163)		391			Extracellular (Potential).|RING-type.		E9PAM7|Q96SU5	Missense_Mutation	SNP	ENST00000257575.4	37	c.1172T>C	CCDS44987.1	.	.	.	.	.	.	.	.	.	.	T	17.88	3.496662	0.64186	.	.	ENSG00000135119	ENST00000257575;ENST00000407967;ENST00000392549	T;T	0.49139	0.79;0.79	5.47	4.33	0.51752	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.57651	0.2068	M	0.78801	2.425	0.80722	D	1	P;P	0.41978	0.698;0.767	P;B	0.48368	0.575;0.439	T	0.61540	-0.7042	10	0.87932	D	0	-49.8434	11.1523	0.48466	0.0:0.0719:0.0:0.9281	.	391;391	Q96EX2;E9PAM7	RNFT2_HUMAN;.	S	391	ENSP00000257575:F391S;ENSP00000376332:F391S	ENSP00000257575:F391S	F	+	2	0	RNFT2	115758442	1.000000	0.71417	1.000000	0.80357	0.398000	0.30690	7.642000	0.83385	0.926000	0.37118	-0.326000	0.08463	TTC		0.602	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320417.1		NM_032814		3	6	0	0	0	0.004672	0	3	6		
NCOR2	9612	broad.mit.edu	37	12	124816920	124816920	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNASeq			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr12:124816920C>G	ENST00000405201.1	-	43	6849	c.6849G>C	c.(6847-6849)aaG>aaC	p.K2283N	NCOR2_ENST00000404121.2_Missense_Mutation_p.K1844N|NCOR2_ENST00000404621.1_Missense_Mutation_p.K2273N|NCOR2_ENST00000429285.2_Missense_Mutation_p.K2273N|NCOR2_ENST00000356219.3_Missense_Mutation_p.K2290N|NCOR2_ENST00000397355.1_Missense_Mutation_p.K2274N			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2294					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.K2283N(1)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCTCTTGCTTCTTGGACTTGA	0.587											OREG0022237	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010tay.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(3)|ovary(1)	4						c.(6877-6879)AAG>AAC		nuclear receptor co-repressor 2 isoform 1							165.0	169.0	168.0					12																	124816920		2086	4199	6285	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124816920C>G	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.6849G>C	12.37:g.124816920C>G	ENSP00000384018:p.Lys2283Asn		OREG0022237	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1537	NCOR2_uc010taz.1_Missense_Mutation_p.K2277N|NCOR2_uc010tax.1_Missense_Mutation_p.K404N	p.K2293N	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	45	7035	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		2294					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.6879G>C	CCDS41858.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.39|15.39	2.818447|2.818447	0.50633|0.50633	.|.	.|.	ENSG00000196498|ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000447675;ENST00000429285|ENST00000443451;ENST00000440337	T;T;T;T;T;T|.	0.52526|.	0.66;1.0;0.66;1.0;0.75;0.94|.	4.53|4.53	2.68|2.68	0.31781|0.31781	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69806|0.69806	0.3152|0.3152	M|M	0.76574|0.76574	2.34|2.34	0.50813|0.50813	D|D	0.999898|0.999898	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.91635|.	0.994;0.999;0.998|.	T|T	0.68678|0.68678	-0.5345|-0.5345	10|5	0.87932|.	D|.	0|.	-34.486|-34.486	10.0473|10.0473	0.42195|0.42195	0.0:0.834:0.0:0.166|0.0:0.834:0.0:0.166	.|.	2274;2283;2294|.	C9J239;C9JFD3;Q9Y618|.	.;.;NCOR2_HUMAN|.	N|T	2283;2273;2290;2274;2282;1844;375;2273|155;74	ENSP00000384018:K2283N;ENSP00000384202:K2273N;ENSP00000348551:K2290N;ENSP00000380513:K2274N;ENSP00000385618:K1844N;ENSP00000400281:K2273N|.	ENSP00000348551:K2290N|.	K|R	-|-	3|2	2|0	NCOR2|NCOR2	123382873|123382873	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.992000|0.992000	0.81027|0.81027	1.200000|1.200000	0.32247|0.32247	0.882000|0.882000	0.36016|0.36016	0.561000|0.561000	0.74099|0.74099	AAG|AGA		0.587	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2		NM_006312		9	111	0	0	0	0.006214	0	9	111		
SACS	26278	broad.mit.edu	37	13	23906256	23906256	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr13:23906256C>G	ENST00000382292.3	-	9	12032	c.11759G>C	c.(11758-11760)aGc>aCc	p.S3920T	SACS_ENST00000382298.3_Missense_Mutation_p.S3920T|SACS_ENST00000402364.1_Missense_Mutation_p.S3170T			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3920					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.S3773T(1)|p.S3920T(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CACTAAGATGCTTGACTTTAC	0.438																																						uc001uon.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(11758-11760)AGC>ACC		sacsin							143.0	124.0	131.0					13																	23906256		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23906256C>G	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.11759G>C	13.37:g.23906256C>G	ENSP00000371729:p.Ser3920Thr					SACS_uc001uoo.2_Missense_Mutation_p.S3773T|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.S3920T	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	12348	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	3920					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.11759G>C	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	8.175	0.792650	0.16258	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.86497	-1.97;-2.13;-1.97	5.82	4.1	0.47936	.	0.038434	0.85682	D	0.000000	T	0.72228	0.3434	N	0.11560	0.145	0.32842	D	0.505524	B	0.24258	0.1	B	0.18561	0.022	T	0.66480	-0.5913	10	0.08179	T	0.78	.	13.1173	0.59307	0.0:0.8685:0.0:0.1315	.	3920	Q9NZJ4	SACS_HUMAN	T	3920;3170;3920	ENSP00000371729:S3920T;ENSP00000385844:S3170T;ENSP00000371735:S3920T	ENSP00000371729:S3920T	S	-	2	0	SACS	22804256	1.000000	0.71417	0.463000	0.27130	0.534000	0.34807	1.102000	0.31050	0.798000	0.33994	0.655000	0.94253	AGC		0.438	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3		NM_014363		9	147	0	0	0	0.004482	0	9	147		
SOHLH2	54937	broad.mit.edu	37	13	36744906	36744906	+	Nonsense_Mutation	SNP	G	G	C	rs368229230		TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr13:36744906G>C	ENST00000379881.3	-	10	1107	c.1019C>G	c.(1018-1020)tCa>tGa	p.S340*	SOHLH2_ENST00000554962.1_Nonsense_Mutation_p.S417*|CCDC169-SOHLH2_ENST00000511166.1_Nonsense_Mutation_p.S417*	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	340					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S340*(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		AGCATTCTCTGAGGCGGAGCT	0.398																																						uc001uvj.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(1018-1020)TCA>TGA		spermatogenesis and oogenesis specific basic							103.0	101.0	102.0					13																	36744906		2203	4300	6503	SO:0001587	stop_gained	54937				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding	g.chr13:36744906G>C	AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"""Basic helix-loop-helix proteins"""	26026	protein-coding gene	gene with protein product	"""spermatogenesis associated 28"""					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.1019C>G	13.37:g.36744906G>C	ENSP00000369210:p.Ser340*					SOHLH2_uc010tei.1_Nonsense_Mutation_p.S417*	p.S340*	NM_017826	NP_060296	Q9NX45	SOLH2_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)	10	1108	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	340					B4DX90|Q5EGC3|Q8TC74|Q96QX4	Nonsense_Mutation	SNP	ENST00000379881.3	37	c.1019C>G	CCDS9355.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.967273	0.92855	.	.	ENSG00000120669;ENSG00000120669;ENSG00000250709	ENST00000379881;ENST00000554962;ENST00000511166	.	.	.	5.14	5.14	0.70334	.	0.164085	0.29093	N	0.013178	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.6054	14.089	0.64977	0.0:0.0:1.0:0.0	.	.	.	.	X	340;417;417	.	ENSP00000421868:S417X	S	-	2	0	CCDC169-SOHLH2;SOHLH2	35642906	0.951000	0.32395	0.455000	0.27031	0.033000	0.12548	4.389000	0.59639	2.401000	0.81631	0.655000	0.94253	TCA		0.398	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044477.2		NM_017826		5	95	0	0	0	0.001168	0	5	95		
NEK5	341676	broad.mit.edu	37	13	52661488	52661488	+	Missense_Mutation	SNP	C	C	T	rs267603847		TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr13:52661488C>T	ENST00000355568.4	-	15	1517	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	460					positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.E517K(2)|p.E460K(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TCCTTCATTTCGTTTTTCCTA	0.393																																						uc001vge.2		NaN																	4	Substitution - Missense(4)		urinary_tract(2)|large_intestine(2)	upper_aerodigestive_tract(1)	1						c.(1378-1380)GAA>AAA		NIMA-related kinase 5							151.0	144.0	146.0					13																	52661488		2203	4300	6503	SO:0001583	missense	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52661488C>T	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.1378G>A	13.37:g.52661488C>T	ENSP00000347767:p.Glu460Lys						p.E460K	NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	15	1518	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	460					Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	37	c.1378G>A	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	C	6.210	0.406907	0.11754	.	.	ENSG00000197168	ENST00000355568	T	0.71222	-0.55	5.55	-5.29	0.02747	.	0.855682	0.10311	N	0.689946	T	0.51890	0.1701	L	0.39633	1.23	0.09310	N	1	B	0.24768	0.111	B	0.14578	0.011	T	0.31223	-0.9951	10	0.18276	T	0.48	.	8.2198	0.31534	0.115:0.251:0.0:0.6341	.	460	Q6P3R8	NEK5_HUMAN	K	460	ENSP00000347767:E460K	ENSP00000347767:E460K	E	-	1	0	NEK5	51559489	0.000000	0.05858	0.000000	0.03702	0.252000	0.25951	-0.442000	0.06871	-1.580000	0.01644	-0.150000	0.13652	GAA		0.393	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3		NM_199289		21	74	0	0	0	0.00278	0	21	74		
TBC1D4	9882	broad.mit.edu	37	13	75936294	75936294	+	Silent	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr13:75936294G>A	ENST00000377636.3	-	2	1294	c.948C>T	c.(946-948)tgC>tgT	p.C316C	TBC1D4_ENST00000431480.2_Silent_p.C316C|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Silent_p.C316C	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	316	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.C316C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TGACACTGCTGCACCGAGACC	0.637																																						uc001vjl.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(946-948)TGC>TGT		TBC1 domain family, member 4							45.0	51.0	49.0					13																	75936294		2077	4203	6280	SO:0001819	synonymous_variant	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75936294G>A	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.948C>T	13.37:g.75936294G>A						TBC1D4_uc010aer.2_Silent_p.C316C|TBC1D4_uc010aes.2_Silent_p.C316C	p.C316C	NM_014832	NP_055647	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	2	1295	-		Prostate(6;0.014)|Breast(118;0.0982)	316			PID 2.		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Silent	SNP	ENST00000377636.3	37	c.948C>T	CCDS41901.1																																																																																				0.637	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1		NM_014832		5	46	0	0	0	0.001168	0	5	46		
OR6S1	341799	broad.mit.edu	37	14	21109226	21109226	+	Missense_Mutation	SNP	C	C	G	rs150042729		TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr14:21109226C>G	ENST00000320704.3	-	1	624	c.625G>C	c.(625-627)Gtc>Ctc	p.V209L		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V209L(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		GATACAATGACGAGGGAGGCC	0.572																																						uc001vxv.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(625-627)GTC>CTC		olfactory receptor, family 6, subfamily S,							91.0	91.0	91.0					14																	21109226		2203	4300	6503	SO:0001583	missense	341799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21109226C>G	AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"""GPCR / Class A : Olfactory receptors"""	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.625G>C	14.37:g.21109226C>G	ENSP00000313110:p.Val209Leu						p.V209L	NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)	1	625	-	all_cancers(95;0.00304)		209			Helical; Name=5; (Potential).		Q6IFJ9	Missense_Mutation	SNP	ENST00000320704.3	37	c.625G>C	CCDS32038.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.353305	0.61293	.	.	ENSG00000181803	ENST00000320704	T	0.00036	8.86	5.62	4.67	0.58626	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44688	D	0.000440	T	0.00144	0.0004	N	0.11789	0.175	0.29917	N	0.823073	P	0.40834	0.73	P	0.44696	0.458	T	0.66897	-0.5807	10	0.72032	D	0.01	-20.363	13.717	0.62702	0.0:0.8444:0.1556:0.0	.	209	Q8NH40	OR6S1_HUMAN	L	209	ENSP00000313110:V209L	ENSP00000313110:V209L	V	-	1	0	OR6S1	20179066	0.000000	0.05858	0.955000	0.39395	0.933000	0.57130	0.018000	0.13422	2.629000	0.89072	0.655000	0.94253	GTC		0.572	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1				5	98	0	0	0	0.000602	0	5	98		
EAPP	55837	broad.mit.edu	37	14	34985629	34985629	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr14:34985629C>G	ENST00000250454.3	-	6	826	c.745G>C	c.(745-747)Gat>Cat	p.D249H		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	249					negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.D249H(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		TCTTCCACATCTGTCTCTGCC	0.448																																						uc001wsd.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(745-747)GAT>CAT		E2F-associated phosphoprotein							231.0	231.0	231.0					14																	34985629		1995	4157	6152	SO:0001583	missense	55837				negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane		g.chr14:34985629C>G	AF217512	CCDS41941.1	14q13	2007-03-26	2007-03-26	2007-03-26		ENSG00000129518			19312	protein-coding gene	gene with protein product		609486	"""chromosome 14 open reading frame 11"""	C14orf11		15716352	Standard	NM_018453		Approved	BM036, FLJ20578	uc001wsd.1	Q56P03		ENST00000250454.3:c.745G>C	14.37:g.34985629C>G	ENSP00000250454:p.Asp249His						p.D249H	NM_018453	NP_060923	Q56P03	EAPP_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)	6	854	-	Breast(36;0.0473)|Hepatocellular(127;0.158)		249					Q9BVF4|Q9NWV5|Q9NZ86	Missense_Mutation	SNP	ENST00000250454.3	37	c.745G>C	CCDS41941.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.754986	0.49362	.	.	ENSG00000129518	ENST00000250454	T	0.52295	0.67	5.44	3.57	0.40892	.	0.729507	0.14224	N	0.333211	T	0.43366	0.1244	L	0.58428	1.81	0.09310	N	0.999996	B	0.33826	0.427	B	0.35114	0.196	T	0.42430	-0.9452	10	0.62326	D	0.03	-5.1577	7.3617	0.26750	0.0:0.7147:0.1428:0.1425	.	249	Q56P03	EAPP_HUMAN	H	249	ENSP00000250454:D249H	ENSP00000250454:D249H	D	-	1	0	EAPP	34055380	0.432000	0.25554	0.317000	0.25265	0.698000	0.40448	2.038000	0.41184	1.411000	0.46957	0.650000	0.86243	GAT		0.448	EAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409847.1		NM_018453		9	195	0	0	0	0.008291	0	9	195		
EAPP	55837	broad.mit.edu	37	14	34985718	34985718	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr14:34985718C>G	ENST00000250454.3	-	6	737	c.656G>C	c.(655-657)aGa>aCa	p.R219T		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	219					negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.R219T(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		GGCTTTATATCTTAGAACCTC	0.388																																						uc001wsd.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(655-657)AGA>ACA		E2F-associated phosphoprotein							163.0	154.0	157.0					14																	34985718		1839	4083	5922	SO:0001583	missense	55837				negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane		g.chr14:34985718C>G	AF217512	CCDS41941.1	14q13	2007-03-26	2007-03-26	2007-03-26		ENSG00000129518			19312	protein-coding gene	gene with protein product		609486	"""chromosome 14 open reading frame 11"""	C14orf11		15716352	Standard	NM_018453		Approved	BM036, FLJ20578	uc001wsd.1	Q56P03		ENST00000250454.3:c.656G>C	14.37:g.34985718C>G	ENSP00000250454:p.Arg219Thr						p.R219T	NM_018453	NP_060923	Q56P03	EAPP_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)	6	765	-	Breast(36;0.0473)|Hepatocellular(127;0.158)		219					Q9BVF4|Q9NWV5|Q9NZ86	Missense_Mutation	SNP	ENST00000250454.3	37	c.656G>C	CCDS41941.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405652	0.62288	.	.	ENSG00000129518	ENST00000250454;ENST00000554792	T;T	0.45276	1.01;0.9	4.92	4.03	0.46877	.	0.198690	0.52532	D	0.000065	T	0.48822	0.1521	M	0.67397	2.05	0.41594	D	0.988817	P	0.44521	0.837	P	0.51582	0.674	T	0.50591	-0.8810	10	0.54805	T	0.06	-13.465	6.5552	0.22456	0.0:0.6828:0.0:0.3172	.	219	Q56P03	EAPP_HUMAN	T	219;198	ENSP00000250454:R219T;ENSP00000450908:R198T	ENSP00000250454:R219T	R	-	2	0	EAPP	34055469	1.000000	0.71417	0.991000	0.47740	0.978000	0.69477	2.296000	0.43584	1.395000	0.46643	-0.145000	0.13849	AGA		0.388	EAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409847.1		NM_018453		9	143	0	0	0	0.004482	0	9	143		
PYGO1	26108	broad.mit.edu	37	15	55841124	55841124	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr15:55841124C>T	ENST00000302000.6	-	2	213	c.119G>A	c.(118-120)cGc>cAc	p.R40H	PYGO1_ENST00000563719.1_Missense_Mutation_p.R40H	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	40					hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R40H(1)		endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		ATTTGCCTTGCGCTTTTTCTT	0.368																																						uc010bfl.1		NaN																	1	Substitution - Missense(1)	p.R40C(1)	urinary_tract(1)	ovary(1)|skin(1)	2						c.(118-120)CGC>CAC		pygopus homolog 1							158.0	153.0	155.0					15																	55841124		2193	4292	6485	SO:0001583	missense	26108				Wnt receptor signaling pathway	nucleus	zinc ion binding	g.chr15:55841124C>T	AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"""Zinc fingers, PHD-type"""	30256	protein-coding gene	gene with protein product		606902	"""pygopus homolog 1 (Drosophila)"""			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.119G>A	15.37:g.55841124C>T	ENSP00000302327:p.Arg40His					PYGO1_uc002adf.1_Missense_Mutation_p.R40H	p.R40H	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN		all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)	2	175	-			40			Nuclear localization signal (Potential).		A7Y2D6	Missense_Mutation	SNP	ENST00000302000.6	37	c.119G>A	CCDS10155.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150650	0.78001	.	.	ENSG00000171016	ENST00000302000;ENST00000401688	T	0.67345	-0.26	5.16	4.24	0.50183	.	0.229367	0.36234	N	0.002702	T	0.55593	0.1930	L	0.36672	1.1	0.49299	D	0.999777	B;B	0.18310	0.027;0.027	B;B	0.10450	0.005;0.005	T	0.54892	-0.8225	10	0.56958	D	0.05	-7.5893	11.2433	0.48982	0.0:0.9148:0.0:0.0852	.	40;40	A7Y2D6;Q9Y3Y4	.;PYGO1_HUMAN	H	40	ENSP00000302327:R40H	ENSP00000302327:R40H	R	-	2	0	PYGO1	53628416	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.088000	0.71371	1.297000	0.44761	0.655000	0.94253	CGC		0.368	PYGO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254977.2		NM_015617		4	51	0	0	0	0.001168	0	4	51		
GOLGA6A	342096	broad.mit.edu	37	15	74365122	74365122	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr15:74365122G>T	ENST00000290438.3	-	13	1502	c.1462C>A	c.(1462-1464)Cta>Ata	p.L488I	RN7SL429P_ENST00000479090.2_RNA	NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	488						Golgi apparatus (GO:0005794)		p.L488I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						TGGGTCTCTAGCTGTTGGTTC	0.612																																						uc002axa.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1462-1464)CTA>ATA		golgi autoantigen, golgin subfamily a, 6							74.0	92.0	86.0					15																	74365122		2162	4296	6458	SO:0001583	missense	342096							g.chr15:74365122G>T	AF263742	CCDS32290.1	15q24.1	2013-05-10	2010-02-12	2009-09-28	ENSG00000159289	ENSG00000159289			13567	protein-coding gene	gene with protein product		610288	"""golgi autoantigen, golgin subfamily a, member 6"", ""golgi autoantigen, golgin subfamily a, 6"", ""golgi autoantigen, golgin subfamily a, 6A"""	GOLGA6		11161787	Standard	NM_001038640		Approved	GLP	uc002axa.1	Q9NYA3	OTTHUMG00000173035	ENST00000290438.3:c.1462C>A	15.37:g.74365122G>T	ENSP00000290438:p.Leu488Ile						p.L488I	NM_001038640	NP_001033729	Q9NYA3	GOG6A_HUMAN			13	1503	-			488			Potential.		A8K959|Q9NYA7	Missense_Mutation	SNP	ENST00000290438.3	37	c.1462C>A	CCDS32290.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499592	0.44455	.	.	ENSG00000159289	ENST00000290438	T	0.38077	1.16	1.55	1.55	0.23275	.	.	.	.	.	T	0.56171	0.1967	M	0.85710	2.77	0.26349	N	0.97724	D	0.61697	0.99	D	0.66979	0.948	T	0.39292	-0.9621	9	0.38643	T	0.18	.	6.6073	0.22731	0.0:0.0:1.0:0.0	.	488	Q9NYA3	GOG6A_HUMAN	I	488	ENSP00000290438:L488I	ENSP00000290438:L488I	L	-	1	2	GOLGA6A	72152175	0.989000	0.36119	0.774000	0.31636	0.007000	0.05969	2.803000	0.47924	1.182000	0.42928	0.162000	0.16502	CTA		0.612	GOLGA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421835.1		XM_292357		7	55	1	0	7.48243e-07	0.006214	8.40132e-07	7	55		
ST8SIA2	8128	broad.mit.edu	37	15	92977602	92977602	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr15:92977602T>A	ENST00000268164.3	+	3	524	c.287T>A	c.(286-288)aTc>aAc	p.I96N	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.I75N	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	96					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.I96N(1)		endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			TCTCTGAGGATCAGGTACTGG	0.453																																						uc002bra.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(286-288)ATC>AAC		ST8 alpha-N-acetyl-neuraminide							138.0	108.0	118.0					15																	92977602		2198	4298	6496	SO:0001583	missense	8128				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr15:92977602T>A	U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"""Sialyltransferases"""	10870	protein-coding gene	gene with protein product		602546	"""sialyltransferase 8 (alpha-2, 8-sialytransferase) B"""	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.287T>A	15.37:g.92977602T>A	ENSP00000268164:p.Ile96Asn					ST8SIA2_uc002brb.2_Missense_Mutation_p.I75N	p.I96N	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)		3	442	+	Lung NSC(78;0.0893)|all_lung(78;0.125)		96			Lumenal (Potential).		Q4VAZ0|Q92470|Q92746	Missense_Mutation	SNP	ENST00000268164.3	37	c.287T>A	CCDS10372.1	.	.	.	.	.	.	.	.	.	.	T	16.23	3.064744	0.55432	.	.	ENSG00000140557	ENST00000268164;ENST00000539113	T;T	0.20200	2.09;2.36	5.65	5.65	0.86999	.	0.052129	0.85682	D	0.000000	T	0.39253	0.1071	L	0.58810	1.83	0.80722	D	1	B;D	0.55172	0.0;0.97	B;P	0.60068	0.003;0.868	T	0.05338	-1.0891	10	0.33940	T	0.23	-0.5031	15.888	0.79269	0.0:0.0:0.0:1.0	.	75;96	C6G488;Q92186	.;SIA8B_HUMAN	N	96;75	ENSP00000268164:I96N;ENSP00000437382:I75N	ENSP00000268164:I96N	I	+	2	0	ST8SIA2	90778606	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.602000	0.67612	2.147000	0.66899	0.533000	0.62120	ATC		0.453	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1		NM_006011		18	55	0	0	0	0.008871	0	18	55		
ZNF598	90850	broad.mit.edu	37	16	2052220	2052220	+	Silent	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr16:2052220C>T	ENST00000563630.1	-	5	959	c.717G>A	c.(715-717)tcG>tcA	p.S239S	ZNF598_ENST00000431526.1_Silent_p.S294S|ZNF598_ENST00000562103.1_Silent_p.S239S			Q86UK7	ZN598_HUMAN	zinc finger protein 598	294							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S294S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CGTTCCGGCGCGAGTGCCGTG	0.692																																						uc002cof.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(1)|breast(1)	2						c.(880-882)TCG>TCA		zinc finger protein 598							28.0	33.0	31.0					16																	2052220		2169	4246	6415	SO:0001819	synonymous_variant	90850					intracellular	zinc ion binding	g.chr16:2052220C>T	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.717G>A	16.37:g.2052220C>T						ZNF598_uc002coe.1_5'UTR	p.S294S	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN			7	897	-			294					Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Silent	SNP	ENST00000563630.1	37	c.882G>A																																																																																					0.692	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1		NM_178167		4	15	0	0	0	0.009096	0	4	15		
KIAA0556	23247	broad.mit.edu	37	16	27761348	27761348	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr16:27761348G>C	ENST00000261588.4	+	16	3086	c.3067G>C	c.(3067-3069)Gcc>Ccc	p.A1023P		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1023						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A1023P(2)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TATTTTACCAGCCTATGGGAA	0.532																																						uc002dow.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						c.(3067-3069)GCC>CCC		hypothetical protein LOC23247							44.0	43.0	43.0					16																	27761348		2197	4300	6497	SO:0001583	missense	23247							g.chr16:27761348G>C	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.3067G>C	16.37:g.27761348G>C	ENSP00000261588:p.Ala1023Pro						p.A1023P	NM_015202	NP_056017	O60303	K0556_HUMAN			16	3091	+			1023					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.3067G>C	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539113	0.65085	.	.	ENSG00000047578	ENST00000261588	T	0.14144	2.53	5.22	5.22	0.72569	.	0.169543	0.51477	D	0.000098	T	0.37489	0.1005	M	0.76002	2.32	0.47123	D	0.999326	D	0.69078	0.997	P	0.62649	0.905	T	0.10965	-1.0607	10	0.56958	D	0.05	-18.2799	18.7608	0.91849	0.0:0.0:1.0:0.0	.	1023	O60303	K0556_HUMAN	P	1023	ENSP00000261588:A1023P	ENSP00000261588:A1023P	A	+	1	0	KIAA0556	27668849	1.000000	0.71417	0.346000	0.25655	0.158000	0.22134	7.682000	0.84083	2.578000	0.87016	0.655000	0.94253	GCC		0.532	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1		NM_015202		4	43	0	0	0	0.009096	0	4	43		
SPNS1	83985	broad.mit.edu	37	16	28993242	28993242	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr16:28993242C>T	ENST00000311008.11	+	7	1207	c.830C>T	c.(829-831)tCc>tTc	p.S277F	SPNS1_ENST00000334536.8_Intron|LAT_ENST00000395461.3_5'Flank|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000352260.7_Intron|SPNS1_ENST00000565975.1_Missense_Mutation_p.S322F|SPNS1_ENST00000323081.8_Missense_Mutation_p.S204F|SPNS1_ENST00000561868.1_Intron	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	277					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)		p.S277F(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						GTCCTGTCTTCCCTGGGCTTC	0.632											OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010vdi.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(829-831)TCC>TTC		spinster homolog 1 isoform 1							181.0	150.0	161.0					16																	28993242		2197	4300	6497	SO:0001583	missense	83985				lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding	g.chr16:28993242C>T	BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.830C>T	16.37:g.28993242C>T	ENSP00000309945:p.Ser277Phe		OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	806	uc010vct.1_Intron|SPNS1_uc002drx.2_Missense_Mutation_p.S204F|SPNS1_uc002dsa.2_Missense_Mutation_p.S277F|SPNS1_uc002drz.2_Intron|SPNS1_uc010byp.2_Intron|SPNS1_uc010byq.1_Missense_Mutation_p.S209F|LAT_uc010vdj.1_5'Flank	p.S277F	NM_001142448	NP_001135920	Q9H2V7	SPNS1_HUMAN			8	970	+			277					B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Missense_Mutation	SNP	ENST00000311008.11	37	c.830C>T	CCDS10646.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249250	0.80024	.	.	ENSG00000169682	ENST00000311008;ENST00000323081	T;T	0.55413	0.52;0.52	4.73	4.73	0.59995	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.063428	0.64402	D	0.000010	T	0.58424	0.2121	L	0.56199	1.76	0.48395	D	0.999643	P;P	0.37731	0.553;0.607	B;P	0.46208	0.281;0.507	T	0.63637	-0.6592	10	0.87932	D	0	.	15.256	0.73585	0.0:1.0:0.0:0.0	.	204;277	Q9H2V7-4;Q9H2V7	.;SPNS1_HUMAN	F	277;204	ENSP00000309945:S277F;ENSP00000318228:S204F	ENSP00000309945:S277F	S	+	2	0	SPNS1	28900743	1.000000	0.71417	0.991000	0.47740	0.962000	0.63368	5.428000	0.66489	2.456000	0.83038	0.563000	0.77884	TCC		0.632	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254690.2		NM_032038		5	77	0	0	0	0.000602	0	5	77		
CDH11	1009	broad.mit.edu	37	16	65016031	65016031	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr16:65016031T>G	ENST00000268603.4	-	8	1788	c.1173A>C	c.(1171-1173)gaA>gaC	p.E391D	CDH11_ENST00000566827.1_Missense_Mutation_p.E265D|CDH11_ENST00000394156.3_Missense_Mutation_p.E391D	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	391	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E391D(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TTTCTTGGACTTCGTGGATGT	0.498			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												uc002eoi.2		NaN		Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	lung(10)|ovary(3)|skin(1)	14						c.(1171-1173)GAA>GAC		cadherin 11, type 2 preproprotein							146.0	127.0	133.0					16																	65016031		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65016031T>G	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1173A>C	16.37:g.65016031T>G	ENSP00000268603:p.Glu391Asp	TSP Lung(24;0.17)				CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Missense_Mutation_p.E391D|CDH11_uc010vin.1_Missense_Mutation_p.E265D|CDH11_uc002eok.1_RNA	p.E391D	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	8	1607	-		Ovarian(137;0.0973)	391			Cadherin 4.|Extracellular (Potential).		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.1173A>C	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.283532	0.80803	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.01745	4.66;4.66	5.76	5.76	0.90799	Cadherin (3);Cadherin-like (1);	0.044361	0.85682	D	0.000000	T	0.04092	0.0114	L	0.55481	1.735	0.53688	D	0.999975	D;B	0.53619	0.961;0.011	P;B	0.46339	0.513;0.023	T	0.46289	-0.9202	10	0.56958	D	0.05	.	15.544	0.76081	0.0:0.0:0.0:1.0	.	391;391	P55287-2;P55287	.;CAD11_HUMAN	D	391;391;374	ENSP00000268603:E391D;ENSP00000377711:E391D	ENSP00000268603:E391D	E	-	3	2	CDH11	63573532	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	3.253000	0.51469	2.324000	0.78689	0.533000	0.62120	GAA		0.498	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1		NM_033664		6	90	0	0	0	0.001984	0	6	90		
DHX33	56919	broad.mit.edu	37	17	5365692	5365692	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr17:5365692C>G	ENST00000225296.3	-	3	825	c.625G>C	c.(625-627)Gtg>Ctg	p.V209L	DHX33_ENST00000433302.3_Intron	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	209	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)	p.V209L(1)		breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCTTTCACCACTCCAAAGAGC	0.463																																						uc002gca.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|pancreas(1)	2						c.(625-627)GTG>CTG		DEAH (Asp-Glu-Ala-His) box polypeptide 33							85.0	76.0	79.0					17																	5365692		2203	4300	6503	SO:0001583	missense	56919					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:5365692C>G	AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"""DEAH-boxes"""	16718	protein-coding gene	gene with protein product		614405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"""	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.625G>C	17.37:g.5365692C>G	ENSP00000225296:p.Val209Leu					DHX33_uc002gbz.2_5'Flank|DHX33_uc002gcb.2_Missense_Mutation_p.V36L|DHX33_uc010clf.2_Intron	p.V209L	NM_020162	NP_064547	Q9H6R0	DHX33_HUMAN			3	627	-			209			Helicase ATP-binding.		B4DHF9|Q4G149|Q5CZ73|Q9H5M9	Missense_Mutation	SNP	ENST00000225296.3	37	c.625G>C	CCDS11072.1	.	.	.	.	.	.	.	.	.	.	C	8.801	0.932996	0.18131	.	.	ENSG00000005100	ENST00000225296	T	0.01203	5.18	5.78	4.8	0.61643	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.055043	0.64402	D	0.000001	T	0.00580	0.0019	N	0.00729	-1.24	0.80722	D	1	B	0.27264	0.173	B	0.32533	0.147	T	0.54596	-0.8270	10	0.02654	T	1	.	15.4296	0.75081	0.14:0.86:0.0:0.0	.	209	Q9H6R0	DHX33_HUMAN	L	209	ENSP00000225296:V209L	ENSP00000225296:V209L	V	-	1	0	DHX33	5306416	1.000000	0.71417	0.886000	0.34754	0.938000	0.57974	5.722000	0.68485	1.460000	0.47911	-0.203000	0.12734	GTG		0.463	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219826.2		NM_020162		4	56	0	0	0	0.009096	0	4	56		
NEURL4	84461	broad.mit.edu	37	17	7226379	7226379	+	Silent	SNP	C	C	A	rs567332480		TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr17:7226379C>A	ENST00000399464.2	-	15	2496	c.2481G>T	c.(2479-2481)gcG>gcT	p.A827A	NEURL4_ENST00000570460.1_Silent_p.A805A|NEURL4_ENST00000315614.7_Silent_p.A827A	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	827	NHR 4. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.A827A(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTGTGCCCAGCGCATCCAGGT	0.602																																						uc002gga.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(2479-2481)GCG>GCT		neuralized homolog 4 isoform 1							59.0	59.0	59.0					17																	7226379		2192	4281	6473	SO:0001819	synonymous_variant	84461						protein binding	g.chr17:7226379C>A		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.2481G>T	17.37:g.7226379C>A						NEURL4_uc002ggb.1_Silent_p.A827A|NEURL4_uc002ggc.1_Silent_p.A173A	p.A827A	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN			15	2488	-			827			NHR 4.		Q6GPI8|Q96IU9|Q9H0B0	Silent	SNP	ENST00000399464.2	37	c.2481G>T	CCDS42251.1																																																																																				0.602	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2		NM_032442		7	39	1	0	8.12818e-05	0.001984	8.81701e-05	7	39		
ATP6V0A1	535	broad.mit.edu	37	17	40642597	40642597	+	Nonsense_Mutation	SNP	T	T	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr17:40642597T>G	ENST00000343619.4	+	11	1239	c.1116T>G	c.(1114-1116)taT>taG	p.Y372*	ATP6V0A1_ENST00000537728.1_Nonsense_Mutation_p.Y329*|ATP6V0A1_ENST00000393829.2_Nonsense_Mutation_p.Y372*|ATP6V0A1_ENST00000264649.6_Nonsense_Mutation_p.Y379*|ATP6V0A1_ENST00000585525.1_Nonsense_Mutation_p.Y329*|ATP6V0A1_ENST00000546249.1_Nonsense_Mutation_p.Y372*|ATP6V0A1_ENST00000544137.1_Nonsense_Mutation_p.Y18*	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	372					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)	p.Y372*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		AGTTTACCTATGGCTTTCAGA	0.373																																						uc002hzr.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	pancreas(1)	1						c.(1114-1116)TAT>TAG		ATPase, H+ transporting, lysosomal V0 subunit a1							119.0	121.0	120.0					17																	40642597		2203	4300	6503	SO:0001587	stop_gained	535				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr17:40642597T>G	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.1116T>G	17.37:g.40642597T>G	ENSP00000342951:p.Tyr372*					ATP6V0A1_uc002hzq.2_Nonsense_Mutation_p.Y372*|ATP6V0A1_uc002hzs.2_Nonsense_Mutation_p.Y379*|ATP6V0A1_uc010wgj.1_Nonsense_Mutation_p.Y329*|ATP6V0A1_uc010wgk.1_Nonsense_Mutation_p.Y329*|ATP6V0A1_uc010cyg.2_Nonsense_Mutation_p.Y18*|ATP6V0A1_uc010wgl.1_Nonsense_Mutation_p.Y231*	p.Y372*	NM_001130021	NP_001123493	Q93050	VPP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.137)	11	1283	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	372			Cytoplasmic (Potential).		B7Z3B7|Q8N5G7|Q9NSX0	Nonsense_Mutation	SNP	ENST00000343619.4	37	c.1116T>G	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	T	36	5.682804	0.96774	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728;ENST00000544137	.	.	.	6.0	1.02	0.19986	.	0.688922	0.16081	N	0.230487	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	5.1361	5.3989	0.16284	0.0:0.2842:0.1419:0.5739	.	.	.	.	X	372;372;372;379;329;18	.	ENSP00000264649:Y379X	Y	+	3	2	ATP6V0A1	37896123	0.000000	0.05858	0.302000	0.25058	0.988000	0.76386	-0.499000	0.06413	0.198000	0.20407	0.454000	0.30748	TAT		0.373	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1		NM_001130020		13	122	0	0	0	0.001855	0	13	122		
ATP6V0A1	535	broad.mit.edu	37	17	40652912	40652912	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr17:40652912T>C	ENST00000343619.4	+	16	1990	c.1867T>C	c.(1867-1869)Tct>Cct	p.S623P	ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.S580P|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.S623P|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.S630P|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.S580P|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.S623P|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.S269P	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	623					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)	p.S623P(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CTACCCAGAGTCTGGTTATTC	0.438																																						uc002hzr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)	1						c.(1867-1869)TCT>CCT		ATPase, H+ transporting, lysosomal V0 subunit a1							158.0	146.0	150.0					17																	40652912		2203	4300	6503	SO:0001583	missense	535				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr17:40652912T>C	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.1867T>C	17.37:g.40652912T>C	ENSP00000342951:p.Ser623Pro					ATP6V0A1_uc002hzq.2_Missense_Mutation_p.S623P|ATP6V0A1_uc002hzs.2_Missense_Mutation_p.S630P|ATP6V0A1_uc010wgj.1_Missense_Mutation_p.S580P|ATP6V0A1_uc010wgk.1_Missense_Mutation_p.S580P|ATP6V0A1_uc010cyg.2_Missense_Mutation_p.S269P|ATP6V0A1_uc010wgl.1_Missense_Mutation_p.S482P	p.S623P	NM_001130021	NP_001123493	Q93050	VPP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.137)	16	2034	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	623			Helical; (Potential).		B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	c.1867T>C	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	T	11.16	1.555542	0.27739	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728;ENST00000544137	D;D;D;D;D;D	0.88509	-2.07;-2.07;-2.08;-2.08;-2.03;-2.39	4.91	-0.624	0.11552	.	0.514672	0.23266	N	0.050069	T	0.59224	0.2178	N	0.00885	-1.115	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.0	T	0.58233	-0.7672	10	0.07325	T	0.83	-6.5101	4.1361	0.10170	0.5981:0.0719:0.1061:0.2239	.	580;580;630;623;623	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	P	623;623;623;630;580;269	ENSP00000342951:S623P;ENSP00000444676:S623P;ENSP00000377415:S623P;ENSP00000264649:S630P;ENSP00000443991:S580P;ENSP00000446377:S269P	ENSP00000264649:S630P	S	+	1	0	ATP6V0A1	37906438	0.017000	0.18338	0.002000	0.10522	0.923000	0.55619	0.006000	0.13152	-0.241000	0.09681	0.459000	0.35465	TCT		0.438	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1		NM_001130020		7	134	0	0	0	0.00308	0	7	134		
BRCA1	672	broad.mit.edu	37	17	41244840	41244840	+	Missense_Mutation	SNP	C	C	G	rs80357717		TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr17:41244840C>G	ENST00000357654.3	-	10	2826	c.2708G>C	c.(2707-2709)tGt>tCt	p.C903S	BRCA1_ENST00000471181.2_Missense_Mutation_p.C903S|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.C903S|BRCA1_ENST00000493795.1_Missense_Mutation_p.C856S|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.C607S|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.C903S	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	903					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)	p.C903S(1)		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)		CTTTTGTTCACATTCAAAAGT	0.403			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												uc002icq.2		NaN	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		1	Substitution - Missense(1)		urinary_tract(1)	ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52						c.(2707-2709)TGT>TCT	Homologous_recombination	breast cancer 1, early onset isoform 1							118.0	116.0	117.0					17																	41244840		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.chr17:41244840C>G	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.2708G>C	17.37:g.41244840C>G	ENSP00000350283:p.Cys903Ser	TCGA Ovarian(2;0.000030)				BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.C832S|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.C856S|BRCA1_uc002ict.2_Missense_Mutation_p.C903S|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.C903S|BRCA1_uc002ide.1_Missense_Mutation_p.C734S|BRCA1_uc010cyy.1_Missense_Mutation_p.C903S|BRCA1_uc010whs.1_Missense_Mutation_p.C903S|BRCA1_uc010cyz.2_Missense_Mutation_p.C856S|BRCA1_uc010cza.2_Missense_Mutation_p.C877S|BRCA1_uc010wht.1_Missense_Mutation_p.C607S	p.C903S	NM_007294	NP_009225	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	2940	-		Breast(137;0.000717)	903					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.2708G>C	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.109832	0.37242	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795	T;T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26;-1.26	4.85	2.86	0.33363	.	0.485974	0.19413	N	0.114886	T	0.81669	0.4871	M	0.75777	2.31	0.09310	N	1	P;P;P;B;B;B	0.49307	0.922;0.922;0.775;0.087;0.238;0.082	P;P;P;B;B;B	0.54590	0.583;0.583;0.756;0.271;0.326;0.059	T	0.71062	-0.4701	10	0.48119	T	0.1	.	7.3441	0.26654	0.0:0.8013:0.0:0.1987	.	903;862;903;903;903;903	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	S	903;903;903;903;607;903;856	ENSP00000350283:C903S;ENSP00000326002:C903S;ENSP00000246907:C903S;ENSP00000310938:C607S;ENSP00000418960:C903S;ENSP00000418775:C856S	ENSP00000310938:C607S	C	-	2	0	BRCA1	38498366	0.000000	0.05858	0.023000	0.16930	0.147000	0.21601	-0.029000	0.12329	0.640000	0.30582	0.484000	0.47621	TGT		0.403	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2		NM_007294		12	96	0	0	0	0.010729	0	12	96		
COIL	8161	broad.mit.edu	37	17	55027860	55027860	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr17:55027860G>A	ENST00000240316.4	-	2	777	c.743C>T	c.(742-744)tCg>tTg	p.S248L		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	248	2 X 4 AA repeats of A-R-N-S.|Ser/Thr-rich.					Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)	p.S248L(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					TTCAGACTCCGAGGAGGAACT	0.428																																						uc002iuu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(742-744)TCG>TTG		coilin							99.0	102.0	101.0					17																	55027860		2203	4298	6501	SO:0001583	missense	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55027860G>A	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.743C>T	17.37:g.55027860G>A	ENSP00000240316:p.Ser248Leu						p.S248L	NM_004645	NP_004636	P38432	COIL_HUMAN			2	774	-	Breast(9;6.15e-08)		248			2 X 4 AA repeats of A-R-N-S.|Ser/Thr-rich.		B2R931	Missense_Mutation	SNP	ENST00000240316.4	37	c.743C>T	CCDS11592.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406790	0.83230	.	.	ENSG00000121058	ENST00000240316	T	0.77229	-1.08	5.71	5.71	0.89125	.	0.595371	0.17044	N	0.189189	T	0.80597	0.4653	L	0.32530	0.975	0.31872	N	0.619627	D	0.76494	0.999	P	0.59115	0.852	T	0.82566	-0.0393	10	0.72032	D	0.01	-6.0666	15.218	0.73285	0.0:0.1395:0.8605:0.0	.	248	P38432	COIL_HUMAN	L	248	ENSP00000240316:S248L	ENSP00000240316:S248L	S	-	2	0	COIL	52382859	1.000000	0.71417	0.736000	0.30914	0.152000	0.21847	3.757000	0.55212	2.700000	0.92200	0.557000	0.71058	TCG		0.428	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1				8	124	0	0	0	0.00308	0	8	124		
THOC1	9984	broad.mit.edu	37	18	252549	252549	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr18:252549G>C	ENST00000261600.6	-	9	674	c.667C>G	c.(667-669)Cca>Gca	p.P223A	THOC1_ENST00000582313.1_5'UTR	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	223					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)	p.P223A(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CACGTTGTTGGAGCTTCCTCG	0.398																																						uc002kkj.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(667-669)CCA>GCA		THO complex 1							146.0	139.0	141.0					18																	252549		1876	4102	5978	SO:0001583	missense	9984				apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding	g.chr18:252549G>C	AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"""THO complex subunits"""	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.667C>G	18.37:g.252549G>C	ENSP00000261600:p.Pro223Ala					THOC1_uc002kkk.3_RNA|THOC1_uc002kkl.2_Missense_Mutation_p.P223A	p.P223A	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN			9	707	-		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	223					B2RBP6|Q15219|Q64I72|Q64I73	Missense_Mutation	SNP	ENST00000261600.6	37	c.667C>G	CCDS45820.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483226	0.63962	.	.	ENSG00000079134	ENST00000261600	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.73337	0.3574	L	0.45051	1.395	0.80722	D	1	D;P	0.89917	1.0;0.948	D;P	0.85130	0.997;0.754	T	0.66803	-0.5831	9	0.23302	T	0.38	-10.1361	19.6558	0.95837	0.0:0.0:1.0:0.0	.	223;223	Q96FV9-2;Q96FV9	.;THOC1_HUMAN	A	223	.	ENSP00000261600:P223A	P	-	1	0	THOC1	242549	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.779000	0.91792	2.719000	0.93026	0.655000	0.94253	CCA		0.398	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5		NM_005131		12	100	0	0	0	0.003163	0	12	100		
PIK3C3	5289	broad.mit.edu	37	18	39584404	39584404	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr18:39584404C>T	ENST00000262039.4	+	10	1155	c.1069C>T	c.(1069-1071)Ccg>Tcg	p.P357S	PIK3C3_ENST00000398870.3_Missense_Mutation_p.P294S	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	357	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.P357S(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						AAAATGGAAGCCGATGGATGT	0.463										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)	uc002lap.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(8)|ovary(1)|breast(1)	10						c.(1069-1071)CCG>TCG		catalytic phosphatidylinositol 3-kinase 3							96.0	89.0	91.0					18																	39584404		2203	4300	6503	SO:0001583	missense	5289				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding	g.chr18:39584404C>T	Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.1069C>T	18.37:g.39584404C>T	ENSP00000262039:p.Pro357Ser	TSP Lung(28;0.18)				PIK3C3_uc010xcl.1_Missense_Mutation_p.P294S	p.P357S	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN			10	1127	+			357					Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	c.1069C>T	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727930	0.89390	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	T;T	0.63580	-0.05;-0.05	5.45	5.45	0.79879	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77184	0.4093	M	0.70787	2.145	0.80722	D	1	D;D	0.58620	0.969;0.983	P;P	0.61533	0.89;0.89	T	0.76523	-0.2928	9	.	.	.	.	19.2798	0.94048	0.0:1.0:0.0:0.0	.	294;357	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	S	357;294	ENSP00000262039:P357S;ENSP00000381845:P294S	.	P	+	1	0	PIK3C3	37838402	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.798000	0.85924	2.579000	0.87056	0.655000	0.94253	CCG		0.463	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1		NM_002647		3	42	0	0	0	0.009096	0	3	42		
MUC16	94025	broad.mit.edu	37	19	9085813	9085813	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr19:9085813G>C	ENST00000397910.4	-	1	6205	c.6002C>G	c.(6001-6003)tCa>tGa	p.S2001*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2001	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S2001*(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATATGGAGTTGACTGTGTCTG	0.468																																						uc002mkp.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(6001-6003)TCA>TGA		mucin 16							133.0	127.0	129.0					19																	9085813		1988	4159	6147	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9085813G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6002C>G	19.37:g.9085813G>C	ENSP00000381008:p.Ser2001*						p.S2001*	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	6206	-			2001			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.6002C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	46	12.267477	0.99652	.	.	ENSG00000181143	ENST00000397910	.	.	.	0.235	0.235	0.15431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	.	.	.	.	.	.	.	X	2001	.	ENSP00000381008:S2001X	S	-	2	0	MUC16	8946813	0.022000	0.18835	0.220000	0.23810	0.222000	0.24845	0.107000	0.15375	0.308000	0.22923	0.313000	0.20887	TCA		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		9	70	0	0	0	0.004482	0	9	70		
ZNF99	7652	broad.mit.edu	37	19	22941848	22941848	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr19:22941848T>G	ENST00000596209.1	-	4	953	c.863A>C	c.(862-864)gAa>gCa	p.E288A	ZNF99_ENST00000397104.3_Missense_Mutation_p.E197A	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	288					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E197A(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GCCACATTCTTCACATTTATA	0.363																																						uc010xrh.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(589-591)GAA>GCA		zinc finger protein 99							33.0	35.0	35.0					19																	22941848		2107	4249	6356	SO:0001583	missense	7652							g.chr19:22941848T>G	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.863A>C	19.37:g.22941848T>G	ENSP00000472969:p.Glu288Ala						p.E197A	NM_001080409	NP_001073878					5	590	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.590A>C	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	-	7.445	0.641563	0.14451	.	.	ENSG00000213973	ENST00000397104	T	0.07444	3.19	1.34	0.187	0.15109	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08714	0.0216	L	0.47716	1.5	0.09310	N	1	P	0.38078	0.617	B	0.42112	0.376	T	0.28332	-1.0047	9	0.52906	T	0.07	.	2.8075	0.05431	0.0:0.1809:0.2625:0.5566	.	197	A8MXY4	ZNF99_HUMAN	A	197	ENSP00000380293:E197A	ENSP00000380293:E197A	E	-	2	0	ZNF99	22733688	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-3.974000	0.00322	-0.173000	0.10761	0.370000	0.22315	GAA		0.363	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1		XM_065124		5	50	0	0	0	0.000602	0	5	50		
MAP4K1	11184	broad.mit.edu	37	19	39086328	39086328	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr19:39086328C>A	ENST00000591517.1	-	28	2249	c.2221G>T	c.(2221-2223)Gga>Tga	p.G741*	MAP4K1_ENST00000396857.2_Nonsense_Mutation_p.G741*|MAP4K1_ENST00000589130.1_Nonsense_Mutation_p.G737*|MAP4K1_ENST00000586296.1_Intron|CTB-186G2.1_ENST00000589557.1_RNA	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	741	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.G741*(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTGCGAAGTCCCCGGACTGGG	0.592																																						uc002oix.1		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	skin(4)|lung(3)|ovary(1)	8						c.(2221-2223)GGA>TGA		mitogen-activated protein kinase kinase kinase							34.0	36.0	36.0					19																	39086328		1886	4099	5985	SO:0001587	stop_gained	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39086328C>A	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.2221G>T	19.37:g.39086328C>A	ENSP00000465039:p.Gly741*					MAP4K1_uc002oiw.1_Nonsense_Mutation_p.G328*|MAP4K1_uc002oiy.1_Nonsense_Mutation_p.G741*	p.G741*	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		28	2329	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		741			CNH.			Nonsense_Mutation	SNP	ENST00000591517.1	37	c.2221G>T	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	C	31	5.071470	0.93950	.	.	ENSG00000104814	ENST00000396857;ENST00000221409	.	.	.	5.01	3.97	0.46021	.	0.446248	0.22172	N	0.063627	.	.	.	.	.	.	0.38696	D	0.95287	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	9.0082	0.36124	0.0:0.9008:0.0:0.0992	.	.	.	.	X	741	.	ENSP00000221409:G741X	G	-	1	0	MAP4K1	43778168	0.355000	0.24921	0.028000	0.17463	0.123000	0.20343	3.810000	0.55613	1.347000	0.45714	0.644000	0.83932	GGA		0.592	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1		NM_001042600		11	52	1	0	1.08611e-07	0.010729	1.24127e-07	11	52		
FBXO27	126433	broad.mit.edu	37	19	39516069	39516069	+	Silent	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr19:39516069C>G	ENST00000292853.4	-	6	953	c.834G>C	c.(832-834)gtG>gtC	p.V278V	FBXO27_ENST00000509137.2_Silent_p.V278V|FBXO27_ENST00000600828.1_Silent_p.V277V	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	278	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)	p.V278V(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GACGGACTCGCACGATCACAC	0.587																																						uc002okh.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(832-834)GTG>GTC		F-box protein 27							116.0	100.0	106.0					19																	39516069		2203	4300	6503	SO:0001819	synonymous_variant	126433				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding	g.chr19:39516069C>G	AF436061	CCDS12527.1	19q13.2	2008-02-05	2004-06-15			ENSG00000161243		"""F-boxes /  ""other"""""	18753	protein-coding gene	gene with protein product		609099	"""F-box only protein 27"""			126433	Standard	NM_178820		Approved	Fbg5, Fbx27	uc002okh.3	Q8NI29		ENST00000292853.4:c.834G>C	19.37:g.39516069C>G							p.V278V	NM_178820	NP_849142	Q8NI29	FBX27_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		6	916	-	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		278			FBA.		Q96C87	Silent	SNP	ENST00000292853.4	37	c.834G>C	CCDS12527.1																																																																																				0.587	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463281.1				6	113	0	0	0	0.001168	0	6	113		
SAMD4B	55095	broad.mit.edu	37	19	39866391	39866391	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr19:39866391G>C	ENST00000314471.6	+	7	1804	c.769G>C	c.(769-771)Ggg>Cgg	p.G257R	SAMD4B_ENST00000598913.1_Missense_Mutation_p.G257R|SAMD4B_ENST00000596368.1_Missense_Mutation_p.G257R	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	257					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G257R(1)		autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			AGAGGAGCTTGGGGCCCGGGC	0.647																																						uc002olb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(769-771)GGG>CGG		sterile alpha motif domain containing 4B							81.0	88.0	86.0					19																	39866391		2203	4300	6503	SO:0001583	missense	55095						protein binding	g.chr19:39866391G>C		CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.769G>C	19.37:g.39866391G>C	ENSP00000317224:p.Gly257Arg					SAMD4B_uc002ola.2_Missense_Mutation_p.G257R	p.G257R	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		7	1804	+	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		257					A5Z0M6|Q6P194	Missense_Mutation	SNP	ENST00000314471.6	37	c.769G>C	CCDS33020.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690086	0.29962	.	.	ENSG00000179134	ENST00000314471;ENST00000429637	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.49253	0.1546	N	0.05124	-0.11	0.58432	D	0.999999	D;D	0.71674	0.998;0.998	D;D	0.64042	0.921;0.921	T	0.50136	-0.8863	9	0.19147	T	0.46	.	16.9916	0.86355	0.0:0.0:1.0:0.0	.	257;257	Q5PRF9;A5Z0M6	SMAG2_HUMAN;.	R	257	.	ENSP00000317224:G257R	G	+	1	0	SAMD4B	44558231	0.997000	0.39634	0.987000	0.45799	0.965000	0.64279	2.380000	0.44327	2.608000	0.88229	0.462000	0.41574	GGG		0.647	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1		NM_018028		30	151	0	0	0	0.010818	0	30	151		
PPFIA3	8541	broad.mit.edu	37	19	49641521	49641521	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr19:49641521T>G	ENST00000334186.4	+	16	2262	c.1913T>G	c.(1912-1914)gTg>gGg	p.V638G	PPFIA3_ENST00000602351.1_Missense_Mutation_p.V638G	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	638					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)		p.V638G(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GAGAGTCGGGTGTCCAGCTCT	0.647																																						uc002pmr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(1)	1						c.(1912-1914)GTG>GGG		PTPRF interacting protein alpha 3							31.0	33.0	32.0					19																	49641521		2203	4300	6503	SO:0001583	missense	8541					cell surface|cytoplasm	protein binding	g.chr19:49641521T>G	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.1913T>G	19.37:g.49641521T>G	ENSP00000335614:p.Val638Gly					PPFIA3_uc010yai.1_Intron|PPFIA3_uc010yaj.1_Intron|PPFIA3_uc002pms.2_Missense_Mutation_p.V506G	p.V638G	NM_003660	NP_003651	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	16	2245	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	638			Potential.		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	37	c.1913T>G	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.136047	0.77662	.	.	ENSG00000177380	ENST00000334186	T	0.53640	0.61	4.6	4.6	0.57074	.	0.000000	0.42420	U	0.000707	T	0.70675	0.3251	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.76564	-0.2913	10	0.87932	D	0	-28.4808	13.2503	0.60048	0.0:0.0:0.0:1.0	.	638;638	O75145-2;O75145	.;LIPA3_HUMAN	G	638	ENSP00000335614:V638G	ENSP00000335614:V638G	V	+	2	0	PPFIA3	54333333	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.554000	0.82212	1.834000	0.53371	0.445000	0.29226	GTG		0.647	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1		NM_003660		4	22	0	0	0	0.00308	0	4	22		
RHOB	388	broad.mit.edu	37	2	20647511	20647511	+	Silent	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr2:20647511C>T	ENST00000272233.4	+	1	677	c.285C>T	c.(283-285)atC>atT	p.I95I		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	95					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|GTP catabolic process (GO:0006184)|negative regulation of cell cycle (GO:0045786)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|transformed cell apoptotic process (GO:0006927)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.I95I(1)		breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)	Botulinum Toxin Type A(DB00083)	TGGAGAACATCCCCGAGAAGT	0.617																																						uc002rdv.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|lung(1)	2						c.(283-285)ATC>ATT		ras homolog gene family, member B precursor							87.0	100.0	96.0					2																	20647511		2203	4300	6503	SO:0001819	synonymous_variant	388				angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr2:20647511C>T		CCDS1699.1	2p24	2012-02-27	2012-02-27	2004-03-24	ENSG00000143878	ENSG00000143878			668	protein-coding gene	gene with protein product	"""oncogene RHO H6"""	165370	"""ras homolog gene family, member B"""	ARH6, ARHB		3283705, 16278215	Standard	NM_004040		Approved	RhoB, RHOH6, MST081	uc002rdv.3	P62745	OTTHUMG00000090755	ENST00000272233.4:c.285C>T	2.37:g.20647511C>T							p.I95I	NM_004040	NP_004031	P62745	RHOB_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)	1	677	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)	95					B2R692|P01121|Q5U0H6|Q7RTN5|Q7RTR9|Q9CUV7	Silent	SNP	ENST00000272233.4	37	c.285C>T	CCDS1699.1																																																																																				0.617	RHOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207500.1		NM_004040		43	91	0	0	0	0.011902	0	43	91		
NRXN1	9378	broad.mit.edu	37	2	50724504	50724504	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr2:50724504C>G	ENST00000406316.2	-	14	4322	c.2846G>C	c.(2845-2847)gGa>gCa	p.G949A	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.G949A|NRXN1_ENST00000405472.3_Missense_Mutation_p.G941A|NRXN1_ENST00000406859.3_Missense_Mutation_p.G949A|NRXN1_ENST00000404971.1_Missense_Mutation_p.G989A|NRXN1_ENST00000402717.3_Missense_Mutation_p.G941A|NRXN1_ENST00000401710.1_5'Flank	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	949	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.G989A(1)|p.G990A(1)|p.G949A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AAAGTCATTTCCATCCCCACT	0.353																																						uc010fbq.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	ovary(2)	2						c.(2965-2967)GGA>GCA		neurexin 1 isoform alpha2 precursor							76.0	74.0	74.0					2																	50724504		1847	4101	5948	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50724504C>G	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2846G>C	2.37:g.50724504C>G	ENSP00000384311:p.Gly949Ala					NRXN1_uc002rxb.3_Missense_Mutation_p.G621A|NRXN1_uc002rxe.3_Missense_Mutation_p.G949A|NRXN1_uc002rxc.1_RNA	p.G989A	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		14	4443	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	138			Extracellular (Potential).|Laminin G-like.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.2966G>C	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.721439	0.89298	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34;-1.34	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.87164	0.6109	L	0.58354	1.805	0.54753	D	0.999981	D;D;D	0.76494	0.999;0.996;0.995	D;P;D	0.68192	0.956;0.859;0.955	T	0.82663	-0.0346	10	0.20519	T	0.43	.	19.4464	0.94849	0.0:1.0:0.0:0.0	.	989;949;941	Q9ULB1-3;F8WB18;A7E294	.;.;.	A	989;949;941;949;990;941;949	ENSP00000385142:G989A;ENSP00000384311:G949A;ENSP00000434015:G941A;ENSP00000385017:G949A;ENSP00000385434:G941A;ENSP00000385681:G949A	ENSP00000385017:G949A	G	-	2	0	NRXN1	50578008	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.841000	0.69409	2.827000	0.97445	0.655000	0.94253	GGA		0.353	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2				5	63	0	0	0	0.000602	0	5	63		
TMEM131	23505	broad.mit.edu	37	2	98504542	98504542	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr2:98504542T>C	ENST00000186436.5	-	4	560	c.332A>G	c.(331-333)gAg>gGg	p.E111G	TMEM131_ENST00000425805.2_Missense_Mutation_p.E62G	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	111						integral component of membrane (GO:0016021)		p.E111G(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CATTGGTGGCTCAAATCGTAT	0.333																																						uc002syh.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|central_nervous_system(2)	6						c.(331-333)GAG>GGG		RW1 protein							87.0	81.0	83.0					2																	98504542		1816	4077	5893	SO:0001583	missense	23505					integral to membrane		g.chr2:98504542T>C	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.332A>G	2.37:g.98504542T>C	ENSP00000186436:p.Glu111Gly					TMEM131_uc010yvg.1_RNA	p.E111G	NM_015348	NP_056163	Q92545	TM131_HUMAN			4	561	-			111						Missense_Mutation	SNP	ENST00000186436.5	37	c.332A>G	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	T	19.41	3.821526	0.71028	.	.	ENSG00000075568	ENST00000186436;ENST00000425805	T	0.33865	1.39	5.56	4.41	0.53225	PapD-like (1);	.	.	.	.	T	0.30727	0.0774	L	0.42245	1.32	0.50813	D	0.999897	B	0.10296	0.003	B	0.12156	0.007	T	0.05954	-1.0854	9	0.46703	T	0.11	.	10.5048	0.44828	0.0:0.0769:0.0:0.9231	.	111	Q92545	TM131_HUMAN	G	111;62	ENSP00000186436:E111G	ENSP00000186436:E111G	E	-	2	0	TMEM131	97870974	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.447000	0.73465	0.955000	0.37878	-0.250000	0.11733	GAG		0.333	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2		XM_371542		3	32	0	0	0	0.004672	0	3	32		
RAPGEF4	11069	broad.mit.edu	37	2	173825863	173825863	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr2:173825863A>G	ENST00000397081.3	+	8	748	c.605A>G	c.(604-606)aAg>aGg	p.K202R	RAPGEF4_ENST00000264111.6_Missense_Mutation_p.K201R|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.K202R|RAPGEF4_ENST00000535187.1_5'UTR|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.K49R|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.K31R|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.K58R|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.K49R	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	202					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.K202R(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CCTTCAGAGAAGATCCTCAGA	0.413																																						uc002uhv.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6						c.(604-606)AAG>AGG		Rap guanine nucleotide exchange factor (GEF) 4							111.0	109.0	110.0					2																	173825863		1829	4093	5922	SO:0001583	missense	11069				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	g.chr2:173825863A>G	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.605A>G	2.37:g.173825863A>G	ENSP00000380271:p.Lys202Arg					RAPGEF4_uc002uhu.2_Missense_Mutation_p.K202R|RAPGEF4_uc002uhw.3_Missense_Mutation_p.K58R|RAPGEF4_uc010zec.1_Missense_Mutation_p.K49R|RAPGEF4_uc010zed.1_Missense_Mutation_p.K31R|RAPGEF4_uc010zee.1_Missense_Mutation_p.K49R|RAPGEF4_uc010fqo.2_Missense_Mutation_p.K31R|RAPGEF4_uc010zef.1_5'UTR|RAPGEF4_uc010zeg.1_Missense_Mutation_p.K29R|RAPGEF4_uc010fqp.1_5'UTR|RAPGEF4_uc010zeh.1_5'UTR	p.K202R	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		8	792	+			202					B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	ENST00000397081.3	37	c.605A>G	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	A	7.740	0.701109	0.15172	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000539767	T;T;T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48;2.48;2.48	5.79	5.79	0.91817	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.205967	0.50627	D	0.000119	T	0.08044	0.0201	N	0.17082	0.46	0.80722	D	1	B;B;B;B;B	0.09022	0.0;0.0;0.002;0.001;0.001	B;B;B;B;B	0.08055	0.0;0.0;0.003;0.001;0.002	T	0.28996	-1.0026	10	0.11485	T	0.65	.	10.4681	0.44620	0.9279:0.0:0.0721:0.0	.	29;31;58;202;202	B7Z805;B7Z2R0;Q8WZA2-3;Q8WZA2;E9PB94	.;.;.;RPGF4_HUMAN;.	R	201;202;202;58;31;49;49;29	ENSP00000264111:K201R;ENSP00000380271:K202R;ENSP00000387104:K202R;ENSP00000380276:K58R;ENSP00000440135:K31R;ENSP00000440250:K49R;ENSP00000437384:K49R	ENSP00000264111:K201R	K	+	2	0	RAPGEF4	173534109	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.565000	0.82337	2.207000	0.71202	0.533000	0.62120	AAG		0.413	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2		NM_007023		8	80	0	0	0	0.00308	0	8	80		
PLEKHA3	65977	broad.mit.edu	37	2	179343067	179343067	+	5'Flank	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr2:179343067C>T	ENST00000234453.5	+	0	0				FKBP7_ENST00000464248.1_5'UTR|FKBP7_ENST00000424785.2_Missense_Mutation_p.D54N|FKBP7_ENST00000434643.2_Missense_Mutation_p.D54N	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3							Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)	p.D54N(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			TTTAGTAGGTCTCCCTTCTTG	0.473																																						uc002umk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(160-162)GAC>AAC		FK506 binding protein 7 isoform a precursor							122.0	117.0	119.0					2																	179343067		2203	4300	6503	SO:0001631	upstream_gene_variant	51661				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:179343067C>T	AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"""Pleckstrin homology (PH) domain containing"""	14338	protein-coding gene	gene with protein product	"""four-phosphate-adaptor protein 1"""	607774	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"""			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446		2.37:g.179343067C>T	Exception_encountered					FKBP7_uc002umm.2_Missense_Mutation_p.D54N|FKBP7_uc002uml.2_RNA|FKBP7_uc010zff.1_Missense_Mutation_p.D50N|PLEKHA3_uc002umn.2_5'Flank	p.D54N	NM_181342	NP_851939	Q9Y680	FKBP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		1	289	-			54			PPIase FKBP-type.		Q4ZG69|Q86TQ1|Q9NXT3	Missense_Mutation	SNP	ENST00000234453.5	37	c.160G>A	CCDS33336.1	.	.	.	.	.	.	.	.	.	.	C	36	5.892244	0.97074	.	.	ENSG00000079150	ENST00000424785;ENST00000350591;ENST00000434643	T;T	0.61742	0.08;0.08	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.75133	0.3808	L	0.58925	1.835	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.994	D;D;D	0.97110	1.0;1.0;0.958	T	0.75709	-0.3223	10	0.87932	D	0	-23.6304	20.108	0.97899	0.0:1.0:0.0:0.0	.	54;54;54	B4DRE2;Q9Y680-3;Q9Y680-2	.;.;.	N	54	ENSP00000413152:D54N;ENSP00000415486:D54N	ENSP00000233092:D54N	D	-	1	0	FKBP7	179051313	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.116000	0.77119	2.746000	0.94184	0.561000	0.74099	GAC		0.473	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2		NM_019091		8	78	0	0	0	0.006214	0	8	78		
TTN	7273	broad.mit.edu	37	2	179462331	179462331	+	Missense_Mutation	SNP	C	C	T	rs200778464	byFrequency	TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr2:179462331C>T	ENST00000591111.1	-	244	52779	c.52555G>A	c.(52555-52557)Gtc>Atc	p.V17519I	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V19160I|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V10287I|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V16592I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V10220I|TTN_ENST00000460472.2_Missense_Mutation_p.V10095I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17519	Ig-like 103.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V10287I(1)|p.V16592I(1)|p.V16590I(1)|p.V10095I(1)|p.V10220I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAGAATAGACGCCTTGATGG	0.398													C|||	3	0.000599042	0.0	0.0014	5008	,	,		18693	0.0		0.002	False		,,,				2504	0.0					uc010zfg.1		NaN																	5	Substitution - Missense(5)		urinary_tract(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(49774-49776)GTC>ATC		titin isoform N2-A							108.0	97.0	101.0					2																	179462331		1887	4112	5999	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179462331C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.52555G>A	2.37:g.179462331C>T	ENSP00000465570:p.Val17519Ile					uc002umo.2_RNA|uc002ump.1_RNA|TTN_uc010zfh.1_Missense_Mutation_p.V10287I|TTN_uc010zfi.1_Missense_Mutation_p.V10220I|TTN_uc010zfj.1_Missense_Mutation_p.V10095I	p.V16592I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		243	49998	-			17519					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.49774G>A		.	.	.	.	.	.	.	.	.	.	C	10.80	1.453650	0.26161	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	6.07	0.178	0.15058	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45836	0.1362	N	0.12961	0.28	0.23704	N	0.997066	B;B;B;B	0.11235	0.004;0.004;0.004;0.004	B;B;B;B	0.08055	0.002;0.002;0.002;0.003	T	0.35649	-0.9780	9	0.87932	D	0	.	6.7334	0.23395	0.1074:0.491:0.0:0.4016	.	10095;10220;10287;17519	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	16592;10095;10287;10220;10093	ENSP00000343764:V16592I;ENSP00000434586:V10095I;ENSP00000340554:V10287I;ENSP00000352154:V10220I	ENSP00000340554:V10287I	V	-	1	0	TTN	179170576	0.000000	0.05858	0.254000	0.24359	0.746000	0.42486	-0.532000	0.06164	-0.178000	0.10672	-0.150000	0.13652	GTC		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		3	39	0	0	0	0.004672	0	3	39		
ITGA4	3676	broad.mit.edu	37	2	182387015	182387015	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr2:182387015A>G	ENST00000397033.2	+	18	2450	c.2020A>G	c.(2020-2022)Act>Gct	p.T674A		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	674					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)	p.T674A(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	ATATGAAACGACTCTACATGT	0.363																																						uc002unu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(2020-2022)ACT>GCT		integrin alpha 4 precursor	Natalizumab(DB00108)						188.0	174.0	179.0					2																	182387015		1867	4111	5978	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182387015A>G		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.2020A>G	2.37:g.182387015A>G	ENSP00000380227:p.Thr674Ala					ITGA4_uc010frj.1_Missense_Mutation_p.T156A|ITGA4_uc002unv.2_5'UTR	p.T674A	NM_000885	NP_000876	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		18	2783	+			674			Extracellular (Potential).		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.2020A>G	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	A	7.786	0.710611	0.15239	.	.	ENSG00000115232	ENST00000397033	T	0.44881	0.91	5.67	1.96	0.26148	Integrin alpha-2 (1);	0.340848	0.33875	N	0.004475	T	0.21427	0.0516	N	0.22421	0.69	0.09310	N	0.999996	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.09207	-1.0685	10	0.32370	T	0.25	.	1.4257	0.02322	0.4717:0.1376:0.2579:0.1328	.	496;674	Q59H74;P13612	.;ITA4_HUMAN	A	674	ENSP00000380227:T674A	ENSP00000380227:T674A	T	+	1	0	ITGA4	182095260	0.039000	0.19947	0.413000	0.26509	0.405000	0.30901	1.231000	0.32624	0.391000	0.25143	0.477000	0.44152	ACT		0.363	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1				4	83	0	0	0	0.009096	0	4	83		
DNAJB2	3300	broad.mit.edu	37	2	220147644	220147644	+	Silent	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr2:220147644G>A	ENST00000336576.5	+	6	726	c.438G>A	c.(436-438)ggG>ggA	p.G146G	DNAJB2_ENST00000392086.4_Silent_p.G146G|DNAJB2_ENST00000463463.1_3'UTR	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	146					cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein deubiquitination (GO:0090086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|inclusion body (GO:0016234)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|unfolded protein binding (GO:0051082)	p.G146G(1)		endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTTCCCTGGGCACTCCGGTA	0.562																																						uc002vkx.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(436-438)GGG>GGA		DnaJ (Hsp40) homolog, subfamily B, member 2							100.0	93.0	95.0					2																	220147644		2203	4300	6503	SO:0001819	synonymous_variant	3300				ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding	g.chr2:220147644G>A		CCDS2439.1, CCDS46519.1	2q32-q34	2011-09-02			ENSG00000135924	ENSG00000135924		"""Heat shock proteins / DNAJ (HSP40)"""	5228	protein-coding gene	gene with protein product		604139		HSJ1		1599432, 10516435	Standard	NM_006736		Approved	HSPF3	uc002vkx.1	P25686	OTTHUMG00000133134	ENST00000336576.5:c.438G>A	2.37:g.220147644G>A						DNAJB2_uc002vkw.1_Silent_p.G146G|DNAJB2_uc002vky.2_5'UTR|DNAJB2_uc010zlb.1_5'UTR	p.G146G	NM_006736	NP_006727	P25686	DNJB2_HUMAN		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	675	+		Renal(207;0.0474)	146					A8K9P6|Q8IUK1|Q8IUK2|Q96F52	Silent	SNP	ENST00000336576.5	37	c.438G>A	CCDS2439.1																																																																																				0.562	DNAJB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256823.2				4	45	0	0	0	0.009096	0	4	45		
HTR2B	3357	broad.mit.edu	37	2	231978470	231978470	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr2:231978470T>G	ENST00000258400.3	-	3	1038	c.526A>C	c.(526-528)Att>Ctt	p.I176L	PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000373635.4_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	176					activation of phospholipase C activity (GO:0007202)|behavior (GO:0007610)|calcium-mediated signaling (GO:0019722)|cardiac muscle hypertrophy (GO:0003300)|cellular calcium ion homeostasis (GO:0006874)|cellular response to temperature stimulus (GO:0071502)|cGMP biosynthetic process (GO:0006182)|embryonic morphogenesis (GO:0048598)|ERK1 and ERK2 cascade (GO:0070371)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|heart morphogenesis (GO:0003007)|intestine smooth muscle contraction (GO:0014827)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell death (GO:0060548)|neural crest cell differentiation (GO:0014033)|neural crest cell migration (GO:0001755)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphorylation (GO:0016310)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	drug binding (GO:0008144)|G-protein alpha-subunit binding (GO:0001965)|Ras GTPase activator activity (GO:0005099)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.I176L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Amoxapine(DB00543)|Apomorphine(DB00714)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Dihydroergotamine(DB00320)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Lisuride(DB00589)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Ropinirole(DB00268)|Triflupromazine(DB00508)|Yohimbine(DB01392)	ACCACTGTAATCTTGATGAAT	0.428																																					Ovarian(155;1331 1891 12853 14038 34991)	uc002vro.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(526-528)ATT>CTT		5-hydroxytryptamine (serotonin) receptor 2B	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)						247.0	231.0	237.0					2																	231978470		2203	4300	6503	SO:0001583	missense	3357				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity	g.chr2:231978470T>G		CCDS2483.1	2q36.3-q37.1	2012-08-08	2012-02-03		ENSG00000135914	ENSG00000135914		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5294	protein-coding gene	gene with protein product		601122	"""5-hydroxytryptamine (serotonin) receptor 2B"""			8143856	Standard	NM_000867		Approved	5-HT(2B), 5-HT2B	uc002vro.3	P41595	OTTHUMG00000133222	ENST00000258400.3:c.526A>C	2.37:g.231978470T>G	ENSP00000258400:p.Ile176Leu					PSMD1_uc002vrm.1_Intron|PSMD1_uc010fxu.1_Intron|PSMD1_uc002vrn.1_Intron|HTR2B_uc010fxv.2_Intron	p.I176L	NM_000867	NP_000858	P41595	5HT2B_HUMAN		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	3	1031	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	176			Helical; Name=4; (By similarity).		B2R9D5|Q53TI1|Q62221|Q6P523	Missense_Mutation	SNP	ENST00000258400.3	37	c.526A>C	CCDS2483.1	.	.	.	.	.	.	.	.	.	.	T	31	5.104041	0.94245	.	.	ENSG00000135914	ENST00000258400	T	0.74947	-0.89	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.83073	0.5175	L	0.58302	1.8	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.81682	-0.0822	10	0.33141	T	0.24	.	15.637	0.76963	0.0:0.0:0.0:1.0	.	176	P41595	5HT2B_HUMAN	L	176	ENSP00000258400:I176L	ENSP00000258400:I176L	I	-	1	0	HTR2B	231686714	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.997000	0.88414	2.155000	0.67459	0.482000	0.46254	ATT		0.428	HTR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256957.2		NM_000867		14	202	0	0	0	0.004007	0	14	202		
ARL4C	10123	broad.mit.edu	37	2	235405159	235405159	+	Silent	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr2:235405159G>A	ENST00000390645.2	-	1	538	c.72C>T	c.(70-72)gcC>gcT	p.A24A	ARL4C_ENST00000339728.3_Silent_p.A24A	NM_005737.3	NP_005728.2	P56559	ARL4C_HUMAN	ADP-ribosylation factor-like 4C	24					endocytic recycling (GO:0032456)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-tubulin binding (GO:0043014)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.A24A(1)		endometrium(1)|ovary(1)|skin(1)|urinary_tract(1)	4		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)		TGGTCTTGCCGGCCGAGTCCA	0.597																																					Esophageal Squamous(157;1837 2534 13028 22831)	uc002vvn.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(70-72)GCC>GCT		ADP-ribosylation factor-like 4C							68.0	76.0	73.0					2																	235405159		2087	4222	6309	SO:0001819	synonymous_variant	10123				endocytic recycling|small GTPase mediated signal transduction	cytoplasm|filopodium|nucleus|plasma membrane	alpha-tubulin binding|GTP binding|GTPase activity	g.chr2:235405159G>A	AB016811	CCDS2512.1, CCDS63169.1	2q37.2	2014-05-09	2005-11-03	2005-11-03	ENSG00000188042	ENSG00000188042		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	698	protein-coding gene	gene with protein product		604787	"""ADP-ribosylation factor-like 7"""	ARL7			Standard	NM_005737		Approved	LAK	uc002vvn.3	P56559	OTTHUMG00000133291	ENST00000390645.2:c.72C>T	2.37:g.235405159G>A						ARL4C_uc002vvm.3_Silent_p.A24A	p.A24A	NM_005737	NP_005728	P56559	ARL4C_HUMAN		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)	1	535	-		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)	24			GTP (By similarity).		Q4A519|Q53R10|Q9BVN1|Q9UQ34	Silent	SNP	ENST00000390645.2	37	c.72C>T	CCDS2512.1																																																																																				0.597	ARL4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257073.1				3	34	0	0	0	0.004672	0	3	34		
BACH1	571	broad.mit.edu	37	21	30699117	30699117	+	Silent	SNP	T	T	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr21:30699117T>G	ENST00000399921.1	+	3	1215	c.972T>G	c.(970-972)tcT>tcG	p.S324S	BACH1_ENST00000286800.3_Silent_p.S324S	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	320	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S324S(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						ATTCTTTGTCTCTTTTACACA	0.413																																						uc002ynj.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|liver(1)	2						c.(970-972)TCT>TCG		BTB and CNC homology 1 transcription factor							119.0	124.0	122.0					21																	30699117		2203	4300	6503	SO:0001819	synonymous_variant	571					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr21:30699117T>G	AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.972T>G	21.37:g.30699117T>G						BACH1_uc002ynk.2_Silent_p.S324S|BACH1_uc002ynl.2_RNA	p.S324S	NM_001186	NP_001177	O14867	BACH1_HUMAN			3	1087	+			324					Q3MJE2|Q8NCI5	Silent	SNP	ENST00000399921.1	37	c.972T>G	CCDS13585.1																																																																																				0.413	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1		NM_206866		10	266	0	0	0	0.008291	0	10	266		
KRTAP24-1	643803	broad.mit.edu	37	21	31655055	31655055	+	Missense_Mutation	SNP	C	C	T	rs371296443		TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr21:31655055C>T	ENST00000340345.4	-	1	221	c.196G>A	c.(196-198)Ggt>Agt	p.G66S		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	66						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.G66S(1)		breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						GGTGCTTCACCGTAGGATTCT	0.522																																						uc002ynv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(196-198)GGT>AGT		keratin associated protein 24-1		T	SER/GLY	0,4006		0,0,2003	85.0	87.0	86.0		196	-7.3	0.0	21		86	1,8393		0,1,4196	no	missense	KRTAP24-1	NM_001085455.1	56	0,1,6199	TT,TC,CC		0.0119,0.0,0.0081	benign	66/255	31655055	1,12399	2003	4197	6200	SO:0001583	missense	643803					keratin filament	structural molecule activity	g.chr21:31655055C>T	AB096935	CCDS42915.1	21q22.11	2007-11-23			ENSG00000188694	ENSG00000188694		"""Keratin associated proteins"""	33902	protein-coding gene	gene with protein product							Standard	NM_001085455		Approved	KAP24.1	uc002ynv.3	Q3LI83	OTTHUMG00000125483	ENST00000340345.4:c.196G>A	21.37:g.31655055C>T	ENSP00000339238:p.Gly66Ser						p.G66S	NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN			1	222	-			66					Q1XDX0	Missense_Mutation	SNP	ENST00000340345.4	37	c.196G>A	CCDS42915.1	.	.	.	.	.	.	.	.	.	.	c	2.008	-0.427815	0.04701	0.0	1.19E-4	ENSG00000188694	ENST00000340345	T	0.03242	4.0	4.96	-7.28	0.01456	.	1.400260	0.04281	N	0.343962	T	0.02610	0.0079	L	0.34521	1.04	0.09310	N	1	B	0.13594	0.008	B	0.10450	0.005	T	0.46105	-0.9215	10	0.07644	T	0.81	0.5175	7.5227	0.27637	0.3032:0.4527:0.0:0.2442	.	66	Q3LI83	KR241_HUMAN	S	66	ENSP00000339238:G66S	ENSP00000339238:G66S	G	-	1	0	KRTAP24-1	30576926	0.000000	0.05858	0.013000	0.15412	0.156000	0.22039	-1.370000	0.02575	-1.556000	0.01695	-3.211000	0.00053	GGT		0.522	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246806.2		NM_001085455		6	84	0	0	0	0.001168	0	6	84		
DRG1	4733	broad.mit.edu	37	22	31816285	31816285	+	Silent	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr22:31816285G>A	ENST00000331457.4	+	5	617	c.456G>A	c.(454-456)ctG>ctA	p.L152L	DRG1_ENST00000433341.1_3'UTR	NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	152	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|polysome (GO:0005844)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|transcription factor binding (GO:0008134)	p.L152L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						TGGATGTCCTGAAACCTTTGG	0.408																																						uc003aku.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(454-456)CTG>CTA		developmentally regulated GTP binding protein 1							86.0	80.0	82.0					22																	31816285		2203	4300	6503	SO:0001819	synonymous_variant	4733				multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding	g.chr22:31816285G>A	AJ005940	CCDS13897.1	22q12.2	2010-02-26	2001-11-28		ENSG00000185721	ENSG00000185721			3029	protein-coding gene	gene with protein product		603952	"""developmentally regulated GTP-binding protein 1"""	NEDD3		7929244, 1449490	Standard	NM_004147		Approved		uc003aku.3	Q9Y295	OTTHUMG00000030792	ENST00000331457.4:c.456G>A	22.37:g.31816285G>A							p.L152L	NM_004147	NP_004138	Q9Y295	DRG1_HUMAN			5	587	+			152			G.		B2RDS8|Q6FGP8|Q8WW69|Q9UGF2	Silent	SNP	ENST00000331457.4	37	c.456G>A	CCDS13897.1																																																																																				0.408	DRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075680.5		NM_004147		8	107	0	0	0	0.00308	0	8	107		
SGOL1	151648	broad.mit.edu	37	3	20225210	20225210	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr3:20225210C>G	ENST00000263753.4	-	3	368	c.229G>C	c.(229-231)Gaa>Caa	p.E77Q	SGOL1_ENST00000437051.1_Missense_Mutation_p.E77Q|SGOL1_ENST00000419233.2_Missense_Mutation_p.E77Q|SGOL1_ENST00000442720.1_Missense_Mutation_p.E77Q|SGOL1_ENST00000443724.1_Missense_Mutation_p.E77Q|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000306698.2_Missense_Mutation_p.E77Q|SGOL1_ENST00000417364.1_Missense_Mutation_p.E77Q|SGOL1_ENST00000429446.3_Missense_Mutation_p.E77Q|SGOL1_ENST00000425061.1_Missense_Mutation_p.E77Q|SGOL1_ENST00000412868.1_Missense_Mutation_p.E77Q|SGOL1_ENST00000383774.1_Missense_Mutation_p.E77Q|SGOL1_ENST00000452020.1_Missense_Mutation_p.E77Q|SGOL1_ENST00000412997.1_Missense_Mutation_p.E77Q|SGOL1_ENST00000421451.1_Missense_Mutation_p.E77Q|SGOL1-AS1_ENST00000448208.1_RNA	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	77	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)	p.E77Q(1)		kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						TCTTGGGCTTCTTTCACTTTG	0.338																																						uc003cbs.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(229-231)GAA>CAA		shugoshin-like 1 isoform A2							156.0	149.0	152.0					3																	20225210		2202	4299	6501	SO:0001583	missense	151648				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding	g.chr3:20225210C>G	BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.229G>C	3.37:g.20225210C>G	ENSP00000263753:p.Glu77Gln					SGOL1_uc003cbr.2_Missense_Mutation_p.E77Q|SGOL1_uc010hfa.2_Missense_Mutation_p.E77Q|SGOL1_uc003cbt.2_Missense_Mutation_p.E77Q|SGOL1_uc003cbu.2_Missense_Mutation_p.E77Q|SGOL1_uc003cbv.2_Missense_Mutation_p.E77Q|SGOL1_uc003cbw.2_Missense_Mutation_p.E77Q|SGOL1_uc003cbx.2_Missense_Mutation_p.E77Q|SGOL1_uc003cby.2_Missense_Mutation_p.E77Q|SGOL1_uc003cbz.2_Missense_Mutation_p.E77Q|SGOL1_uc003cca.2_Missense_Mutation_p.E77Q|SGOL1_uc003ccb.2_Missense_Mutation_p.E77Q|SGOL1_uc003ccc.2_Missense_Mutation_p.E77Q	p.E77Q	NM_001012410	NP_001012410	Q5FBB7	SGOL1_HUMAN			3	416	-			77			Potential.|Necessary for interaction with PPP2CA and PPP2R1A.		Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Missense_Mutation	SNP	ENST00000263753.4	37	c.229G>C	CCDS33716.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643262	0.67244	.	.	ENSG00000129810	ENST00000306698;ENST00000419233;ENST00000263753;ENST00000383774;ENST00000425061;ENST00000443724;ENST00000421451;ENST00000452020;ENST00000442720;ENST00000412997;ENST00000437051;ENST00000412868;ENST00000429446;ENST00000417364	T;T;T;T;T;T;T;T;T;T	0.44482	0.92;2.96;0.95;0.92;0.95;2.96;1.47;0.93;1.47;0.93	5.13	4.25	0.50352	.	0.150980	0.64402	D	0.000013	T	0.52549	0.1741	L	0.42245	1.32	0.35208	D	0.774894	P;P;P;D;P;P;P	0.89917	0.607;0.561;0.525;1.0;0.863;0.785;0.604	B;B;B;D;B;B;B	0.74023	0.327;0.171;0.25;0.982;0.368;0.265;0.207	T	0.64166	-0.6471	10	0.66056	D	0.02	.	9.488	0.38942	0.0:0.7808:0.1431:0.076	.	77;77;77;77;77;77;77	Q5FBB7-7;B5BUA4;Q5FBB7-5;Q5FBB7-4;Q5FBB7-2;Q5FBB7;Q5FBB7-3	.;.;.;.;.;SGOL1_HUMAN;.	Q	77	ENSP00000394625:E77Q;ENSP00000263753:E77Q;ENSP00000373284:E77Q;ENSP00000414960:E77Q;ENSP00000413070:E77Q;ENSP00000414129:E77Q;ENSP00000410458:E77Q;ENSP00000389034:E77Q;ENSP00000406880:E77Q;ENSP00000394613:E77Q	ENSP00000263753:E77Q	E	-	1	0	SGOL1	20200214	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.228000	0.51270	1.274000	0.44362	0.655000	0.94253	GAA		0.338	SGOL1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340498.1		NM_138484		14	105	0	0	0	0.001855	0	14	105		
SCN11A	11280	broad.mit.edu	37	3	38945514	38945514	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr3:38945514G>T	ENST00000302328.3	-	12	1882	c.1684C>A	c.(1684-1686)Cag>Aag	p.Q562K	SCN11A_ENST00000444237.2_Missense_Mutation_p.Q562K|SCN11A_ENST00000456224.3_Missense_Mutation_p.Q562K|SCN11A_ENST00000450244.1_Missense_Mutation_p.Q562K	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	562					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.Q562K(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CACAGCCACTGGGGGCAACAG	0.502																																						uc011ays.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(1684-1686)CAG>AAG		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						161.0	136.0	144.0					3																	38945514		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38945514G>T	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.1684C>A	3.37:g.38945514G>T	ENSP00000307599:p.Gln562Lys						p.Q562K	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	12	1883	-			562					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.1684C>A	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	2.100	-0.406290	0.04832	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.95821	-3.82;-3.82;-3.78;-3.68	5.37	3.59	0.41128	.	0.917695	0.09506	N	0.793023	D	0.88858	0.6551	N	0.16368	0.405	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.77892	-0.2418	10	0.29301	T	0.29	.	4.4548	0.11639	0.2461:0.0:0.5972:0.1567	.	562	Q9UI33	SCNBA_HUMAN	K	562	ENSP00000307599:Q562K;ENSP00000400945:Q562K;ENSP00000416757:Q562K;ENSP00000408028:Q562K	ENSP00000307599:Q562K	Q	-	1	0	SCN11A	38920518	0.000000	0.05858	0.118000	0.21660	0.066000	0.16364	-0.709000	0.05030	0.655000	0.30866	0.585000	0.79938	CAG		0.502	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4		NM_014139		4	72	1	0	0.00024832	0.009096	0.000264875	4	72		
NKTR	4820	broad.mit.edu	37	3	42680096	42680096	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr3:42680096C>T	ENST00000232978.8	+	13	3088	c.2900C>T	c.(2899-2901)tCg>tTg	p.S967L	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	967					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.S967L(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TGTTCCAATTCGGAAAACAAT	0.408																																						uc003clo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(2899-2901)TCG>TTG		natural killer-tumor recognition sequence							81.0	83.0	83.0					3																	42680096		2203	4300	6503	SO:0001583	missense	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42680096C>T		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.2900C>T	3.37:g.42680096C>T	ENSP00000232978:p.Ser967Leu					NKTR_uc003clm.1_Missense_Mutation_p.S714L|NKTR_uc003clp.2_Missense_Mutation_p.S714L|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.S857L|NKTR_uc003clr.1_Missense_Mutation_p.S714L|NKTR_uc003cls.2_Missense_Mutation_p.S667L	p.S967L	NM_005385	NP_005376	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	3047	+			967						Missense_Mutation	SNP	ENST00000232978.8	37	c.2900C>T	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	c	1.450	-0.565169	0.03939	.	.	ENSG00000114857	ENST00000232978	T	0.12672	2.66	5.51	1.78	0.24846	.	0.675753	0.15487	N	0.259760	T	0.11067	0.0270	L	0.43646	1.37	0.09310	N	0.999992	B;B	0.13145	0.007;0.004	B;B	0.08055	0.003;0.001	T	0.24119	-1.0169	10	0.38643	T	0.18	-0.6522	7.2246	0.26007	0.0:0.6735:0.1234:0.2031	.	667;967	Q6M1B8;P30414	.;NKTR_HUMAN	L	967	ENSP00000232978:S967L	ENSP00000232978:S967L	S	+	2	0	NKTR	42655100	0.001000	0.12720	0.004000	0.12327	0.018000	0.09664	1.445000	0.35079	0.318000	0.23185	-0.719000	0.03609	TCG		0.408	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2		NM_005385		5	70	0	0	0	0.000602	0	5	70		
ROBO1	6091	broad.mit.edu	37	3	78685192	78685192	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr3:78685192G>C	ENST00000464233.1	-	23	3217	c.3104C>G	c.(3103-3105)tCa>tGa	p.S1035*	ROBO1_ENST00000436010.2_Nonsense_Mutation_p.S996*|ROBO1_ENST00000467549.1_Intron|ROBO1_ENST00000495273.1_Nonsense_Mutation_p.S990*	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1035					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.S1035*(1)|p.S990*(1)|p.S1012*(1)|p.S1039*(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ATAAACAGTTGACTCAGGGAG	0.378																																						uc003dqe.2		NaN																	4	Substitution - Nonsense(4)		urinary_tract(4)	large_intestine(2)	2						c.(3103-3105)TCA>TGA		roundabout 1 isoform a							80.0	79.0	80.0					3																	78685192		1930	4134	6064	SO:0001587	stop_gained	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78685192G>C	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.3104C>G	3.37:g.78685192G>C	ENSP00000420321:p.Ser1035*					ROBO1_uc003dqb.2_Nonsense_Mutation_p.S996*|ROBO1_uc003dqc.2_Intron|ROBO1_uc003dqd.2_Nonsense_Mutation_p.S990*|ROBO1_uc010hoh.2_Nonsense_Mutation_p.S227*|ROBO1_uc011bgl.1_Nonsense_Mutation_p.S607*	p.S1035*	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	23	3312	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1035			Cytoplasmic (Potential).		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Nonsense_Mutation	SNP	ENST00000464233.1	37	c.3104C>G	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	42	9.469553	0.99180	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000398414	.	.	.	5.83	5.83	0.93111	.	0.190365	0.48286	D	0.000197	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1875	0.98223	0.0:0.0:1.0:0.0	.	.	.	.	X	996;990;1035;990;1039	.	.	S	-	2	0	ROBO1	78767882	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.532000	0.81985	2.760000	0.94817	0.644000	0.83932	TCA		0.378	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1		NM_002941		4	41	0	0	0	0.009096	0	4	41		
IMPG2	50939	broad.mit.edu	37	3	100948226	100948226	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr3:100948226C>G	ENST00000193391.7	-	17	3818	c.3631G>C	c.(3631-3633)Gag>Cag	p.E1211Q		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1211	Hyaluronan-binding motif involved in chondroitin sulfate A- and C-binding motif. {ECO:0000250}.				visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)	p.E1211Q(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	TTTCCCACCTCTCTGGAAAGC	0.532																																						uc003duq.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(3631-3633)GAG>CAG		interphotoreceptor matrix proteoglycan 2							144.0	124.0	131.0					3																	100948226		2203	4300	6503	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100948226C>G	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.3631G>C	3.37:g.100948226C>G	ENSP00000193391:p.Glu1211Gln					IMPG2_uc011bhe.1_Missense_Mutation_p.E1074Q|IMPG2_uc010hpj.1_RNA	p.E1211Q	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN			17	3834	-			1211			Cytoplasmic (Potential).|Hyaluronan-binding motif involved in chondroitin sulfate A- and C-binding motif (By similarity).		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.3631G>C	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184766	0.78677	.	.	ENSG00000081148	ENST00000193391	T	0.42131	0.98	5.61	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.50103	0.1596	M	0.71581	2.175	0.54753	D	0.999986	P;P	0.49253	0.921;0.921	P;P	0.45449	0.481;0.481	T	0.58836	-0.7566	10	0.72032	D	0.01	-8.6082	16.4965	0.84246	0.0:0.8689:0.1311:0.0	.	1211;1211	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	Q	1211	ENSP00000193391:E1211Q	ENSP00000193391:E1211Q	E	-	1	0	IMPG2	102430916	1.000000	0.71417	0.994000	0.49952	0.741000	0.42261	7.411000	0.80078	1.355000	0.45865	0.655000	0.94253	GAG		0.532	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3				7	38	0	0	0	0.004482	0	7	38		
FBXO40	51725	broad.mit.edu	37	3	121341105	121341105	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr3:121341105G>A	ENST00000338040.4	+	3	1243	c.829G>A	c.(829-831)Gac>Aac	p.D277N		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	277					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D277N(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GAAGCAGCAGGACGTTCGTAC	0.483																																						uc003eeg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(829-831)GAC>AAC		F-box protein 40							100.0	103.0	102.0					3																	121341105		2203	4300	6503	SO:0001583	missense	51725				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:121341105G>A	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.829G>A	3.37:g.121341105G>A	ENSP00000337510:p.Asp277Asn						p.D277N	NM_016298	NP_057382	Q9UH90	FBX40_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	3	1039	+			277					B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	ENST00000338040.4	37	c.829G>A	CCDS33835.1	.	.	.	.	.	.	.	.	.	.	G	0.224	-1.026139	0.02045	.	.	ENSG00000163833	ENST00000338040	T	0.42131	0.98	5.64	2.88	0.33553	.	0.606137	0.17866	N	0.159375	T	0.34135	0.0887	L	0.44542	1.39	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.31641	-0.9936	10	0.66056	D	0.02	-8.8281	9.789	0.40695	0.2318:0.0:0.7682:0.0	.	277	Q9UH90	FBX40_HUMAN	N	277	ENSP00000337510:D277N	ENSP00000337510:D277N	D	+	1	0	FBXO40	122823795	0.067000	0.21026	0.204000	0.23530	0.065000	0.16274	0.280000	0.18790	0.771000	0.33359	-0.189000	0.12847	GAC		0.483	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1		NM_016298		6	42	0	0	0	0.001984	0	6	42		
TRIM42	287015	broad.mit.edu	37	3	140397214	140397214	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr3:140397214G>A	ENST00000286349.3	+	1	334	c.143G>A	c.(142-144)cGg>cAg	p.R48Q		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	48	Cys-rich.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R48Q(1)|p.R48L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AAAGATGAGCGGAACTGCCAG	0.537																																						uc003eto.1		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						c.(142-144)CGG>CAG		tripartite motif-containing 42							180.0	153.0	162.0					3																	140397214		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140397214G>A	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.143G>A	3.37:g.140397214G>A	ENSP00000286349:p.Arg48Gln						p.R48Q	NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN			1	334	+			48			Cys-rich.		A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.143G>A	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.677762	0.29783	.	.	ENSG00000155890	ENST00000286349	T	0.37752	1.18	5.53	2.65	0.31530	.	0.891618	0.09592	N	0.781371	T	0.17365	0.0417	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18555	-1.0333	10	0.26408	T	0.33	-19.845	5.3698	0.16132	0.1795:0.1668:0.6537:0.0	.	48	Q8IWZ5	TRI42_HUMAN	Q	48	ENSP00000286349:R48Q	ENSP00000286349:R48Q	R	+	2	0	TRIM42	141879904	0.022000	0.18835	0.960000	0.40013	0.980000	0.70556	0.601000	0.24119	1.339000	0.45563	-0.244000	0.11960	CGG		0.537	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2		NM_152616		10	158	0	0	0	0.008291	0	10	158		
SMC4	10051	broad.mit.edu	37	3	160146645	160146645	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr3:160146645G>C	ENST00000357388.3	+	18	3161	c.2710G>C	c.(2710-2712)Gac>Cac	p.D904H	SMC4_ENST00000360111.2_Missense_Mutation_p.D904H|SMC4_ENST00000469762.1_Missense_Mutation_p.D879H|SMC4_ENST00000462787.1_Missense_Mutation_p.D904H|SMC4_ENST00000344722.5_Missense_Mutation_p.D904H|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	904					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.D904H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGCCCAACAAGACAAACTTGA	0.378																																						uc003fdh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|breast(1)	2						c.(2710-2712)GAC>CAC		SMC4 structural maintenance of chromosomes							127.0	120.0	122.0					3																	160146645		2203	4300	6503	SO:0001583	missense	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160146645G>C	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.2710G>C	3.37:g.160146645G>C	ENSP00000349961:p.Asp904His					IFT80_uc003fda.2_Intron|SMC4_uc003fdi.2_Missense_Mutation_p.D879H|SMC4_uc003fdj.2_Missense_Mutation_p.D904H|SMC4_uc010hwd.2_Missense_Mutation_p.D904H|SMC4_uc003fdl.2_Missense_Mutation_p.D607H	p.D904H	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		18	2823	+			904			Potential.		A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	c.2710G>C	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439675	0.83885	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	T;T;T;T;T	0.77750	-1.12;-1.12;-0.89;-1.12;-1.12	6.07	5.19	0.71726	RecF/RecN/SMC (1);	0.039653	0.85682	D	0.000000	D	0.86969	0.6061	M	0.79805	2.47	0.80722	D	1	D;B;D;P	0.59357	0.968;0.251;0.985;0.675	P;P;P;P	0.61940	0.869;0.537;0.896;0.682	D	0.88336	0.2971	10	0.59425	D	0.04	-19.3703	14.498	0.67702	0.0709:0.0:0.9291:0.0	.	904;879;879;904	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	H	904;904;879;904;904;498	ENSP00000349961:D904H;ENSP00000353225:D904H;ENSP00000417964:D879H;ENSP00000420734:D904H;ENSP00000341382:D904H	ENSP00000341382:D904H	D	+	1	0	SMC4	161629339	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.782000	0.85680	1.549000	0.49425	0.655000	0.94253	GAC		0.378	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1				6	90	0	0	0	0.001984	0	6	90		
CABS1	85438	broad.mit.edu	37	4	71200994	71200994	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr4:71200994G>C	ENST00000273936.5	+	1	312	c.238G>C	c.(238-240)Gat>Cat	p.D80H		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	80					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)	p.D80H(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATCAGAAGATGATATGGGGAC	0.373																																						uc003hff.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|ovary(1)		0						c.(238-240)GAT>CAT		testis development protein NYD-SP26							65.0	68.0	67.0					4																	71200994		2203	4298	6501	SO:0001583	missense	85438					flagellum	calcium ion binding	g.chr4:71200994G>C	AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"""casein-like phosphoprotein"""		"""chromosome 4 open reading frame 35"""	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.238G>C	4.37:g.71200994G>C	ENSP00000273936:p.Asp80His						p.D80H	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN			1	324	+		all_hematologic(202;0.196)	80					B2RCB5|Q86UE0|Q96M17	Missense_Mutation	SNP	ENST00000273936.5	37	c.238G>C	CCDS3539.1	.	.	.	.	.	.	.	.	.	.	G	8.630	0.893502	0.17613	.	.	ENSG00000145309	ENST00000273936	T	0.28666	1.6	4.56	0.906	0.19314	.	0.650011	0.12762	N	0.441232	T	0.32763	0.0840	L	0.32530	0.975	0.09310	N	1	D	0.59767	0.986	P	0.55999	0.789	T	0.14337	-1.0476	10	0.72032	D	0.01	-28.9621	6.693	0.23183	0.3983:0.0:0.6017:0.0	.	80	Q96KC9	CABS1_HUMAN	H	80	ENSP00000273936:D80H	ENSP00000273936:D80H	D	+	1	0	CABS1	71235583	0.535000	0.26370	0.008000	0.14137	0.020000	0.10135	0.610000	0.24253	0.027000	0.15297	-0.140000	0.14226	GAT		0.373	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3		NM_033122		5	71	0	0	0	0.000602	0	5	71		
MMRN1	22915	broad.mit.edu	37	4	90872768	90872768	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr4:90872768G>T	ENST00000394980.1	+	8	3450	c.3131G>T	c.(3130-3132)aGc>aTc	p.S1044I	MMRN1_ENST00000394981.1_Missense_Mutation_p.S347I|MMRN1_ENST00000508372.1_Missense_Mutation_p.S786I|MMRN1_ENST00000264790.2_Missense_Mutation_p.S1044I			Q13201	MMRN1_HUMAN	multimerin 1	1044	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)		p.S1044I(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GAGTATTCAAGCTGTAGTCGG	0.428																																						uc003hst.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)	4						c.(3130-3132)AGC>ATC		multimerin 1							77.0	69.0	72.0					4																	90872768		2203	4300	6503	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90872768G>T	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.3131G>T	4.37:g.90872768G>T	ENSP00000378431:p.Ser1044Ile					MMRN1_uc010iku.2_Missense_Mutation_p.S347I|MMRN1_uc011cds.1_Missense_Mutation_p.S786I	p.S1044I	NM_007351	NP_031377	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	7	3202	+		Hepatocellular(203;0.114)	1044			EGF-like.		Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.3131G>T	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	G	9.441	1.087956	0.20390	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000394981;ENST00000508372	D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92	4.88	-3.56	0.04626	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.760259	0.12521	N	0.461670	T	0.81148	0.4762	N	0.20445	0.575	0.09310	N	1	P;B	0.38420	0.63;0.183	B;B	0.34652	0.187;0.039	T	0.72584	-0.4249	10	0.66056	D	0.02	.	6.312	0.21171	0.1506:0.5245:0.2263:0.0986	.	347;1044	Q13201-2;Q13201	.;MMRN1_HUMAN	I	1044;1044;347;786	ENSP00000378431:S1044I;ENSP00000264790:S1044I;ENSP00000378432:S347I;ENSP00000426461:S786I	ENSP00000264790:S1044I	S	+	2	0	MMRN1	91091791	0.547000	0.26465	0.002000	0.10522	0.776000	0.43924	0.496000	0.22499	-0.612000	0.05701	-0.274000	0.10170	AGC		0.428	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2		NM_007351		5	53	1	0	3.59834e-05	0.001168	3.93664e-05	5	53		
KIAA1109	84162	broad.mit.edu	37	4	123160717	123160717	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr4:123160717C>G	ENST00000264501.4	+	29	4253	c.3880C>G	c.(3880-3882)Cag>Gag	p.Q1294E	KIAA1109_ENST00000388738.3_Missense_Mutation_p.Q1294E|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.Q1294E			Q2LD37	K1109_HUMAN	KIAA1109	1294					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.Q1294E(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCCTAATACTCAGGATAAGTC	0.403																																						uc003ieh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(3880-3882)CAG>GAG		fragile site-associated protein							79.0	77.0	77.0					4																	123160717		1842	4083	5925	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123160717C>G	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.3880C>G	4.37:g.123160717C>G	ENSP00000264501:p.Gln1294Glu					KIAA1109_uc003iei.1_Missense_Mutation_p.Q1047E|KIAA1109_uc010ins.1_Missense_Mutation_p.Q637E|KIAA1109_uc003iek.2_5'UTR	p.Q1294E	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			27	3925	+			1294					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.3880C>G	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.10|13.10	2.136965|2.136965	0.37728|0.37728	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000424425	T;T;T|.	0.26810|.	2.32;2.32;1.71|.	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	0.172041|.	0.26553|.	U|.	0.023739|.	T|.	0.51176|.	0.1659|.	N|N	0.12182|0.12182	0.205|0.205	0.44976|0.44976	D|D	0.997991|0.997991	P|.	0.44090|.	0.826|.	B|.	0.38156|.	0.266|.	T|.	0.42932|.	-0.9422|.	10|.	0.09084|.	T|.	0.74|.	.|.	20.4561|20.4561	0.99145|0.99145	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1294|.	Q2LD37|.	K1109_HUMAN|.	E|X	1294|1125	ENSP00000264501:Q1294E;ENSP00000373390:Q1294E;ENSP00000389925:Q1294E|.	ENSP00000264501:Q1294E|.	Q|S	+|+	1|2	0|0	KIAA1109|KIAA1109	123380167|123380167	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.179000|7.179000	0.77665|0.77665	2.843000|2.843000	0.97960|0.97960	0.650000|0.650000	0.86243|0.86243	CAG|TCA		0.403	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1		NM_020797		22	40	0	0	0	0.00278	0	22	40		
SEMA5A	9037	broad.mit.edu	37	5	9122934	9122934	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr5:9122934C>T	ENST00000382496.5	-	14	2280	c.1615G>A	c.(1615-1617)Gtg>Atg	p.V539M		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	539					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)	p.V539M(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TGCCCATCCACGGTGAGATTC	0.517																																						uc003jek.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(1615-1617)GTG>ATG		semaphorin 5A precursor							57.0	57.0	57.0					5																	9122934		2203	4299	6502	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9122934C>T	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1615G>A	5.37:g.9122934C>T	ENSP00000371936:p.Val539Met						p.V539M	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			14	2327	-			539			Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.1615G>A	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.158533	0.38119	.	.	ENSG00000112902	ENST00000382496	T	0.23950	1.88	4.85	4.85	0.62838	.	0.061079	0.64402	N	0.000004	T	0.36936	0.0985	M	0.85299	2.745	0.80722	D	1	B	0.16396	0.017	B	0.17098	0.017	T	0.33445	-0.9868	10	0.51188	T	0.08	.	15.8181	0.78621	0.0:1.0:0.0:0.0	.	539	Q13591	SEM5A_HUMAN	M	539	ENSP00000371936:V539M	ENSP00000371936:V539M	V	-	1	0	SEMA5A	9175934	1.000000	0.71417	0.928000	0.36995	0.134000	0.20937	5.885000	0.69736	2.398000	0.81561	0.650000	0.86243	GTG		0.517	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2				66	59	0	0	0	0.01441	0	66	59		
DNAH5	1767	broad.mit.edu	37	5	13753535	13753535	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr5:13753535T>A	ENST00000265104.4	-	63	10783	c.10679A>T	c.(10678-10680)aAc>aTc	p.N3560I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3560					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.N3560I(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GAGATTTAGGTTCTTTCCAAA	0.378									Kartagener syndrome																													uc003jfd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(10678-10680)AAC>ATC		dynein, axonemal, heavy chain 5							136.0	133.0	134.0					5																	13753535		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13753535T>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10679A>T	5.37:g.13753535T>A	ENSP00000265104:p.Asn3560Ile					DNAH5_uc003jfc.2_5'UTR	p.N3560I	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			63	10721	-	Lung NSC(4;0.00476)		3560					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.10679A>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	13.67	2.305996	0.40795	.	.	ENSG00000039139	ENST00000265104	T	0.25250	1.81	5.77	3.3	0.37823	.	0.191622	0.53938	D	0.000058	T	0.30324	0.0761	M	0.76574	2.34	0.29435	N	0.859542	B	0.18461	0.028	B	0.25291	0.059	T	0.23476	-1.0187	10	0.49607	T	0.09	.	10.7104	0.45980	0.0:0.1314:0.0:0.8686	.	3560	Q8TE73	DYH5_HUMAN	I	3560	ENSP00000265104:N3560I	ENSP00000265104:N3560I	N	-	2	0	DNAH5	13806535	0.014000	0.17966	0.001000	0.08648	0.790000	0.44656	1.609000	0.36858	0.496000	0.27904	0.533000	0.62120	AAC		0.378	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2		NM_001369		10	241	0	0	0	0.006214	0	10	241		
DNAH5	1767	broad.mit.edu	37	5	13823473	13823473	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr5:13823473C>T	ENST00000265104.4	-	40	6690	c.6586G>A	c.(6586-6588)Gag>Aag	p.E2196K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2196					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E2196K(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGTTCATCCTCATCAATCTAA	0.368									Kartagener syndrome																													uc003jfd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(6586-6588)GAG>AAG		dynein, axonemal, heavy chain 5							90.0	94.0	92.0					5																	13823473		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13823473C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.6586G>A	5.37:g.13823473C>T	ENSP00000265104:p.Glu2196Lys						p.E2196K	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			40	6628	-	Lung NSC(4;0.00476)		2196					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.6586G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	36	5.781397	0.96929	.	.	ENSG00000039139	ENST00000265104	T	0.41065	1.01	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.74176	0.3682	M	0.92169	3.28	0.80722	D	1	D	0.69078	0.997	D	0.68765	0.96	T	0.79095	-0.1944	10	0.72032	D	0.01	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	2196	Q8TE73	DYH5_HUMAN	K	2196	ENSP00000265104:E2196K	ENSP00000265104:E2196K	E	-	1	0	DNAH5	13876473	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	GAG		0.368	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2		NM_001369		11	156	0	0	0	0.008291	0	11	156		
CHSY3	337876	broad.mit.edu	37	5	129520760	129520760	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr5:129520760A>G	ENST00000305031.4	+	3	2283	c.1925A>G	c.(1924-1926)gAa>gGa	p.E642G		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	642					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.E642G(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GAGAACTTTGAAAACATGTGT	0.403																																						uc003kvd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|pancreas(1)	3						c.(1924-1926)GAA>GGA		chondroitin sulfate synthase 3							79.0	81.0	81.0					5																	129520760		2203	4300	6503	SO:0001583	missense	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129520760A>G	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1925A>G	5.37:g.129520760A>G	ENSP00000302629:p.Glu642Gly						p.E642G	NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	3	1925	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	642			Lumenal (Potential).		B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	c.1925A>G	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	A	17.53	3.412126	0.62511	.	.	ENSG00000198108	ENST00000305031	T	0.20738	2.05	4.02	4.02	0.46733	.	0.000000	0.56097	D	0.000029	T	0.46034	0.1372	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.47898	-0.9081	9	.	.	.	-6.3902	14.006	0.64463	1.0:0.0:0.0:0.0	.	642	Q70JA7	CHSS3_HUMAN	G	642	ENSP00000302629:E642G	.	E	+	2	0	CHSY3	129548659	1.000000	0.71417	0.992000	0.48379	0.989000	0.77384	9.083000	0.94067	2.032000	0.59987	0.528000	0.53228	GAA		0.403	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1		NM_175856		4	69	0	0	0	0.001168	0	4	69		
REEP2	51308	broad.mit.edu	37	5	137780945	137780945	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr5:137780945G>A	ENST00000254901.5	+	6	562	c.440G>A	c.(439-441)cGc>cAc	p.R147H	REEP2_ENST00000506158.1_Missense_Mutation_p.R109H|REEP2_ENST00000378339.2_Missense_Mutation_p.R149H	NM_016606.2	NP_057690.2	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	147					cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein transport into membrane raft (GO:0032596)|regulation of intracellular transport (GO:0032386)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.R147H(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GAGAAGCTCCGCAGCTTCAGC	0.692																																						uc003lcz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(439-441)CGC>CAC		receptor accessory protein 2							52.0	60.0	57.0					5																	137780945		2203	4300	6503	SO:0001583	missense	51308					integral to membrane		g.chr5:137780945G>A	AK056193	CCDS4205.1, CCDS64259.1	5q31	2014-03-12	2006-02-07	2006-02-07	ENSG00000132563	ENSG00000132563		"""Receptor accessory proteins"""	17975	protein-coding gene	gene with protein product		609347	"""chromosome 5 open reading frame 19"""	C5orf19		16271481, 15550249, 24388663	Standard	NM_016606		Approved	SGC32445, SPG72	uc003lda.4	Q9BRK0	OTTHUMG00000129205	ENST00000254901.5:c.440G>A	5.37:g.137780945G>A	ENSP00000254901:p.Arg147His					REEP2_uc003lda.2_Missense_Mutation_p.R149H|REEP2_uc011cyt.1_Missense_Mutation_p.R108H	p.R147H	NM_016606	NP_057690	Q9BRK0	REEP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		6	562	+			147					Q53EM8|Q9NYF2	Missense_Mutation	SNP	ENST00000254901.5	37	c.440G>A	CCDS4205.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.671381|5.671381	0.96754|0.96754	.|.	.|.	ENSG00000132563|ENSG00000132563	ENST00000512126|ENST00000378339;ENST00000254901;ENST00000506158	.|D;D;D	.|0.89939	.|-2.59;-2.56;-1.72	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94318|0.94318	0.8174|0.8174	M|M	0.79258|0.79258	2.445|2.445	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.78314	.|0.991;0.991	D|D	0.94476|0.94476	0.7689|0.7689	5|10	.|0.62326	.|D	.|0.03	-14.508|-14.508	17.5609|17.5609	0.87906|0.87906	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|149;147	.|A8K3D2;Q9BRK0	.|.;REEP2_HUMAN	T|H	187|149;147;109	.|ENSP00000367590:R149H;ENSP00000254901:R147H;ENSP00000422530:R109H	.|ENSP00000254901:R147H	A|R	+|+	1|2	0|0	REEP2|REEP2	137808844|137808844	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	9.527000|9.527000	0.98044|0.98044	2.681000|2.681000	0.91329|0.91329	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.692	REEP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251284.1		NM_016606		5	56	0	0	0	0.000602	0	5	56		
PCDHGB2	56103	broad.mit.edu	37	5	140741601	140741601	+	Silent	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr5:140741601C>T	ENST00000522605.1	+	1	1899	c.1899C>T	c.(1897-1899)ggC>ggT	p.G633G	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	633	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G633G(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCCTTGGGCGACAGGGACG	0.687																																						uc003ljs.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1897-1899)GGC>GGT		protocadherin gamma subfamily B, 2 isoform 1							12.0	14.0	13.0					5																	140741601		1813	4023	5836	SO:0001819	synonymous_variant	56103				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140741601C>T	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1899C>T	5.37:g.140741601C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Silent_p.G633G|PCDHGA5_uc011das.1_5'Flank	p.G633G	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1899	+			633			Extracellular (Potential).|Cadherin 6.		Q3MIJ3|Q9UN65	Silent	SNP	ENST00000522605.1	37	c.1899C>T	CCDS54924.1																																																																																				0.687	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1		NM_018923		10	16	0	0	0	0.003163	0	10	16		
FLT4	2324	broad.mit.edu	37	5	180057288	180057288	+	Silent	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr5:180057288C>T	ENST00000261937.6	-	4	528	c.450G>A	c.(448-450)agG>agA	p.R150R	FLT4_ENST00000393347.3_Silent_p.R150R|FLT4_ENST00000502649.1_Silent_p.R150R|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	150					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.R150R(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGGCGTCCTTCCTGTTGACCA	0.632																																					Colon(97;1075 1466 27033 27547 35871)	uc003mma.3		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15						c.(448-450)AGG>AGA		fms-related tyrosine kinase 4 isoform 2	Sorafenib(DB00398)|Sunitinib(DB01268)						111.0	94.0	100.0					5																	180057288		2200	4299	6499	SO:0001819	synonymous_variant	2324	Congenital_Hereditary_Lymphedema			positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180057288C>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.450G>A	5.37:g.180057288C>T						FLT4_uc003mlz.3_Silent_p.R150R|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.1_Silent_p.R150R|FLT4_uc011dgz.1_Silent_p.R150R|FLT4_uc011dha.1_Missense_Mutation_p.G134E	p.R150R	NM_002020	NP_002011	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	4	529	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	150			Extracellular (Potential).		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	c.450G>A	CCDS4457.1																																																																																				0.632	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4				14	30	0	0	0	0.004007	0	14	30		
TUBB	203068	broad.mit.edu	37	6	30691914	30691914	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr6:30691914C>T	ENST00000327892.8	+	4	1381	c.1075C>T	c.(1075-1077)Cgt>Tgt	p.R359C	XXbac-BPG252P9.9_ENST00000607476.1_RNA|TUBB_ENST00000396389.1_Missense_Mutation_p.R341C|TUBB_ENST00000435534.1_Missense_Mutation_p.R158C|TUBB_ENST00000330914.3_Missense_Mutation_p.R287C|TUBB_ENST00000396384.1_Missense_Mutation_p.R287C	NM_178014.2	NP_821133.1	P07437	TBB5_HUMAN	tubulin, beta class I	359					cell division (GO:0051301)|cellular component movement (GO:0006928)|cellular process (GO:0009987)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cell body (GO:0044297)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.R359C(1)		breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Podofilox(DB01179)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	CATCCCACCTCGTGGCCTCAA	0.532																																						uc003nrl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1075-1077)CGT>TGT		tubulin, beta	Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)						99.0	85.0	90.0					6																	30691914		2203	4300	6503	SO:0001583	missense	203068				cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding	g.chr6:30691914C>T	AB062393	CCDS4687.1	6p21.33	2011-10-10	2011-10-10		ENSG00000196230	ENSG00000196230		"""Tubulins"""	20778	protein-coding gene	gene with protein product	"""class I beta-tubulin"", ""beta1-tubulin"""	191130	"""tubulin, beta polypeptide"", ""tubulin, beta"""			11504633, 8270253	Standard	NM_001293212		Approved	OK/SW-cl.56, MGC16435, M40, Tubb5	uc003nrl.3	P07437	OTTHUMG00000031059	ENST00000327892.8:c.1075C>T	6.37:g.30691914C>T	ENSP00000339001:p.Arg359Cys					TUBB_uc003nrk.1_Missense_Mutation_p.R359C|TUBB_uc011dmq.1_Missense_Mutation_p.R287C	p.R359C	NM_178014	NP_821133	P07437	TBB5_HUMAN			4	1202	+			359					P05218|Q8WUC1|Q9CY33	Missense_Mutation	SNP	ENST00000327892.8	37	c.1075C>T	CCDS4687.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.389452	0.42410	.	.	ENSG00000196230	ENST00000327892;ENST00000422827;ENST00000435534;ENST00000330914;ENST00000396389;ENST00000396384	D;D;D;D;D	0.84223	-1.51;-1.82;-1.51;-1.51;-1.51	4.62	3.76	0.43208	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.060642	0.64402	N	0.000005	T	0.80565	0.4647	M	0.86097	2.795	0.43907	D	0.996542	B;B	0.12630	0.006;0.006	B;B	0.25405	0.06;0.006	T	0.81858	-0.0739	10	0.87932	D	0	.	10.4376	0.44445	0.0:0.9045:0.0:0.0955	.	359;359	P07437;F8VW92	TBB5_HUMAN;.	C	359;268;158;287;341;287	ENSP00000339001:R359C;ENSP00000391672:R158C;ENSP00000365578:R287C;ENSP00000379672:R341C;ENSP00000379668:R287C	ENSP00000339001:R359C	R	+	1	0	TUBB	30799893	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.377000	0.79668	1.177000	0.42855	0.591000	0.81541	CGT		0.532	TUBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076074.2		NM_178014		20	67	0	0	0	0.00333	0	20	67		
ASCC3	10973	broad.mit.edu	37	6	100966000	100966000	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr6:100966000C>T	ENST00000369162.2	-	38	6138	c.5794G>A	c.(5794-5796)Gca>Aca	p.A1932T		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1932	SEC63 2.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.A1932T(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CCCTGGTTTGCAGCCACGTCC	0.478																																						uc003pqk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|skin(1)	6						c.(5794-5796)GCA>ACA		activating signal cointegrator 1 complex subunit							72.0	64.0	67.0					6																	100966000		2203	4300	6503	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:100966000C>T	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.5794G>A	6.37:g.100966000C>T	ENSP00000358159:p.Ala1932Thr						p.A1932T	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	38	6123	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1932			SEC63 2.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.5794G>A	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	C	33	5.270504	0.95429	.	.	ENSG00000112249	ENST00000369162	T	0.61627	0.09	4.93	4.93	0.64822	Sec63 domain (3);	0.000000	0.85682	D	0.000000	T	0.70474	0.3228	M	0.66506	2.035	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.72701	-0.4214	10	0.56958	D	0.05	.	18.5051	0.90894	0.0:1.0:0.0:0.0	.	1932	Q8N3C0	HELC1_HUMAN	T	1932	ENSP00000358159:A1932T	ENSP00000358159:A1932T	A	-	1	0	ASCC3	101072721	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.687000	0.84139	2.433000	0.82419	0.460000	0.39030	GCA		0.478	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2		NM_006828		4	43	0	0	0	0.000602	0	4	43		
SEC63	11231	broad.mit.edu	37	6	108193031	108193031	+	Silent	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr6:108193031C>T	ENST00000369002.4	-	21	2339	c.2160G>A	c.(2158-2160)aaG>aaA	p.K720K		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	720					liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.K720K(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		CTGGCACAGGCTTAGCCTCAT	0.418																																						uc003psc.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(2158-2160)AAG>AAA		SEC63-like protein							105.0	96.0	99.0					6																	108193031		2203	4300	6503	SO:0001819	synonymous_variant	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108193031C>T	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.2160G>A	6.37:g.108193031C>T						SEC63_uc003psb.3_Silent_p.K547K	p.K720K	NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	21	2429	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	720			Cytoplasmic (Potential).		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Silent	SNP	ENST00000369002.4	37	c.2160G>A	CCDS5061.1																																																																																				0.418	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4		NM_007214		8	93	0	0	0	0.004482	0	8	93		
IYD	389434	broad.mit.edu	37	6	150713566	150713566	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr6:150713566C>G	ENST00000344419.3	+	3	596	c.456C>G	c.(454-456)atC>atG	p.I152M	IYD_ENST00000229447.5_Missense_Mutation_p.I152M|IYD_ENST00000392256.2_Missense_Mutation_p.I152M|IYD_ENST00000425615.3_Missense_Mutation_p.I97M|IYD_ENST00000500320.3_Missense_Mutation_p.I152M|IYD_ENST00000392255.3_Missense_Mutation_p.I152M	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	152					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491)	p.I152M(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TTCGAAAGATCATTGAGGAGG	0.522																																						uc003qnu.1		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	ovary(2)	2						c.(454-456)ATC>ATG		iodotyrosine dehalogenase 1 isoform 2							128.0	112.0	117.0					6																	150713566		2203	4300	6503	SO:0001583	missense	389434				cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane		g.chr6:150713566C>G	AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765			21071	protein-coding gene	gene with protein product		612025	"""chromosome 6 open reading frame 71"""	C6orf71		16316988, 15289438	Standard	NM_001164694		Approved	dJ422F24.1, DEHAL1	uc003qnx.2	Q6PHW0	OTTHUMG00000016347	ENST00000344419.3:c.456C>G	6.37:g.150713566C>G	ENSP00000343763:p.Ile152Met					IYD_uc003qnv.1_Missense_Mutation_p.I152M|IYD_uc003qnw.1_RNA|IYD_uc003qnx.1_Missense_Mutation_p.I152M|IYD_uc010kik.1_Missense_Mutation_p.I70M	p.I152M	NM_203395	NP_981932	Q6PHW0	IYD1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)	3	596	+		Ovarian(120;0.028)	152			Extracellular (Potential).		C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	Missense_Mutation	SNP	ENST00000344419.3	37	c.456C>G	CCDS5227.1	.	.	.	.	.	.	.	.	.	.	C	9.475	1.096541	0.20552	.	.	ENSG00000009765	ENST00000229447;ENST00000344419;ENST00000392256;ENST00000392255;ENST00000500320;ENST00000425615	T;T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53;-0.53	5.92	3.77	0.43336	Nitroreductase-like (3);	0.047599	0.85682	D	0.000000	T	0.75968	0.3922	M	0.83852	2.665	0.58432	D	0.999999	D;D;D;D	0.89917	0.99;1.0;0.999;1.0	D;D;D;D	0.91635	0.99;0.999;0.986;0.995	T	0.78155	-0.2314	10	0.72032	D	0.01	-32.8711	4.5069	0.11893	0.1469:0.5152:0.0:0.3379	.	70;152;152;152	Q2VPV9;C9JFW2;Q6PHW0-3;Q6PHW0	.;.;.;IYD1_HUMAN	M	152;152;152;152;152;97	ENSP00000229447:I152M;ENSP00000343763:I152M;ENSP00000376085:I152M;ENSP00000376084:I152M;ENSP00000441276:I152M;ENSP00000390081:I97M	ENSP00000229447:I152M	I	+	3	3	IYD	150755259	0.921000	0.31238	0.991000	0.47740	0.815000	0.46073	-0.002000	0.12924	1.170000	0.42753	0.561000	0.74099	ATC		0.522	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043754.3		NM_203395		8	65	0	0	0	0.00308	0	8	65		
QKI	9444	broad.mit.edu	37	6	163984654	163984654	+	Silent	SNP	C	C	T	rs569768147		TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr6:163984654C>T	ENST00000361752.3	+	6	1388	c.837C>T	c.(835-837)ccC>ccT	p.P279P	QKI_ENST00000361195.2_Silent_p.P271P|QKI_ENST00000275262.7_Silent_p.P279P|QKI_ENST00000453779.2_Silent_p.P279P|QKI_ENST00000424802.3_Silent_p.P271P|QKI_ENST00000392127.2_Silent_p.P279P	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	279					long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.P279P(2)		central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		CTCCAGGGCCCGAAGCTGGTT	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		17085	0.0		0.0	False		,,,				2504	0.001					uc003qui.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	large_intestine(1)|ovary(1)	2						c.(835-837)CCC>CCT		quaking homolog, KH domain RNA binding isoform							103.0	101.0	102.0					6																	163984654		2203	4300	6503	SO:0001819	synonymous_variant	9444				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	g.chr6:163984654C>T	AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"""quaking homolog, KH domain RNA binding (mouse)"""			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.837C>T	6.37:g.163984654C>T						QKI_uc003que.2_Silent_p.P279P|QKI_uc003quf.2_Silent_p.P279P|QKI_uc003qug.2_Silent_p.P279P|QKI_uc003quh.2_Silent_p.P271P|QKI_uc003quj.2_Silent_p.P271P	p.P279P	NM_006775	NP_006766	Q96PU8	QKI_HUMAN		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)	6	1388	+		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)	279			SH3-binding.		Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Silent	SNP	ENST00000361752.3	37	c.837C>T	CCDS5285.1	.	.	.	.	.	.	.	.	.	.	C	6.401	0.442088	0.12164	.	.	ENSG00000112531	ENST00000537883;ENST00000544361	.	.	.	6.02	-7.9	0.01169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.4795	6.9914	0.24758	0.0771:0.3037:0.0769:0.5424	.	.	.	.	X	176;113	.	.	R	+	1	2	QKI	163904644	0.003000	0.15002	0.753000	0.31225	0.998000	0.95712	-1.387000	0.02535	-1.739000	0.01347	0.655000	0.94253	CGA		0.478	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2		NM_006775		15	64	0	0	0	0.00245	0	15	64		
FAM126A	84668	broad.mit.edu	37	7	23016375	23016375	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr7:23016375C>A	ENST00000432176.2	-	6	699	c.467G>T	c.(466-468)gGt>gTt	p.G156V	FAM126A_ENST00000409923.1_Missense_Mutation_p.G156V	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	156					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)	p.G156V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						TTTTGACAAACCATGCTGGGA	0.418																																						uc003svm.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(466-468)GGT>GTT		family with sequence similarity 126, member A							97.0	91.0	93.0					7																	23016375		2203	4300	6503	SO:0001583	missense	84668					cytoplasm|membrane	signal transducer activity	g.chr7:23016375C>A	BC018710	CCDS5377.1	7p15.3	2008-10-02			ENSG00000122591	ENSG00000122591			24587	protein-coding gene	gene with protein product	"""down regulated by Ctnnb1, a"""	610531				10910037, 16951682	Standard	NM_032581		Approved	DRCTNNB1A, HCC, HYCC1, hyccin	uc003svm.4	Q9BYI3	OTTHUMG00000128435	ENST00000432176.2:c.467G>T	7.37:g.23016375C>A	ENSP00000403396:p.Gly156Val					FAM126A_uc003svn.3_Missense_Mutation_p.G12V|FAM126A_uc011jyr.1_Missense_Mutation_p.G122V	p.G156V	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN			6	722	-			156					A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6	Missense_Mutation	SNP	ENST00000432176.2	37	c.467G>T	CCDS5377.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.88|17.88	3.497857|3.497857	0.64186|0.64186	.|.	.|.	ENSG00000122591|ENSG00000122591	ENST00000432176;ENST00000409923|ENST00000440481	T;T|.	0.77750|.	-1.12;-1.12|.	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76026|0.76026	0.3930|0.3930	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	B;D|.	0.65815|.	0.434;0.995|.	B;D|.	0.64595|.	0.405;0.927|.	T|T	0.72858|0.72858	-0.4165|-0.4165	10|5	0.46703|.	T|.	0.11|.	-12.8006|-12.8006	20.1518|20.1518	0.98089|0.98089	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	156;156|.	B8ZZJ1;Q9BYI3|.	.;HYCCI_HUMAN|.	V|F	156|208	ENSP00000403396:G156V;ENSP00000386246:G156V|.	ENSP00000386246:G156V|.	G|V	-|-	2|1	0|0	FAM126A|FAM126A	22982900|22982900	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.944000|0.944000	0.59088|0.59088	3.801000|3.801000	0.55545|0.55545	2.772000|2.772000	0.95346|0.95346	0.563000|0.563000	0.77884|0.77884	GGT|GTT		0.418	FAM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250230.1		NM_032581		6	73	1	0	2.0095e-06	0.001984	2.23666e-06	6	73		
CPA2	1358	broad.mit.edu	37	7	129908841	129908841	+	Silent	SNP	A	A	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr7:129908841A>G	ENST00000222481.4	+	2	199	c.144A>G	c.(142-144)gaA>gaG	p.E48E		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	48					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.E46E(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					AGGCTCAAGAACATCTCCAGG	0.373																																						uc003vpq.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(142-144)GAA>GAG		carboxypeptidase A2 (pancreatic) precursor							104.0	100.0	101.0					7																	129908841		2203	4300	6503	SO:0001819	synonymous_variant	1358				proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129908841A>G	U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.144A>G	7.37:g.129908841A>G						CPA2_uc011kpc.1_Silent_p.E48E	p.E48E	NM_001869	NP_001860	P48052	CBPA2_HUMAN			2	163	+	Melanoma(18;0.0435)		48					A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Silent	SNP	ENST00000222481.4	37	c.144A>G	CCDS5817.2																																																																																				0.373	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2		NM_001869		4	62	0	0	0	0.009096	0	4	62		
SGK223	157285	broad.mit.edu	37	8	8185379	8185379	+	Silent	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr8:8185379G>A	ENST00000520004.1	-	5	3177	c.2913C>T	c.(2911-2913)ctC>ctT	p.L971L	SGK223_ENST00000330777.4_Silent_p.L971L			Q86YV5	SG223_HUMAN		973							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.L973L(1)|p.L971L(1)									CGCCCATGAAGAGGTCCTCAC	0.562																																					GBM(34;731 755 10259 33573 33867)	uc003wsh.3		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(2911-2913)CTC>CTT		pragmin							63.0	66.0	65.0					8																	8185379		1929	4138	6067	SO:0001819	synonymous_variant	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8185379G>A																												ENST00000520004.1:c.2913C>T	8.37:g.8185379G>A							p.L971L	NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN			4	2913	-			971					Q8N3N5	Silent	SNP	ENST00000520004.1	37	c.2913C>T	CCDS43706.1																																																																																				0.562	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1				6	37	0	0	0	0.00308	0	6	37		
FBXO16	157574	broad.mit.edu	37	8	28304779	28304779	+	Missense_Mutation	SNP	C	C	G	rs149234031	byFrequency	TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr8:28304779C>G	ENST00000380254.2	-	7	900	c.752G>C	c.(751-753)aGa>aCa	p.R251T	FBXO16_ENST00000346498.2_Missense_Mutation_p.R239T|FBXO16_ENST00000518734.1_Missense_Mutation_p.R239T|RP11-181B11.2_ENST00000518819.1_RNA|RP11-181B11.2_ENST00000523935.1_RNA	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	251								p.R251T(1)		large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		CATTTGGTTTCTTTTTCTTCT	0.353													C|||	5	0.000998403	0.0038	0.0	5008	,	,		19294	0.0		0.0	False		,,,				2504	0.0					uc003xgu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(751-753)AGA>ACA		F-box only protein 16		C	THR/ARG	20,4384	27.2+/-55.0	0,20,2182	143.0	142.0	142.0		752	2.1	1.0	8	dbSNP_134	142	0,8600		0,0,4300	yes	missense	FBXO16	NM_172366.2	71	0,20,6482	GG,GC,CC		0.0,0.4541,0.1538	benign	251/293	28304779	20,12984	2202	4300	6502	SO:0001583	missense	157574							g.chr8:28304779C>G	AF453435	CCDS6068.1, CCDS59099.1	8p21.1	2008-02-05	2004-06-15		ENSG00000214050	ENSG00000214050		"""F-boxes /  ""other"""""	13618	protein-coding gene	gene with protein product		608519	"""F-box only protein 16"""			12243353	Standard	NM_172366		Approved	FBX16	uc003xgu.4	Q8IX29	OTTHUMG00000102147	ENST00000380254.2:c.752G>C	8.37:g.28304779C>G	ENSP00000369604:p.Arg251Thr					ZNF395_uc003xgt.2_5'UTR|FBXO16_uc003xgv.2_Missense_Mutation_p.R238T|FBXO16_uc003xgw.2_Missense_Mutation_p.R238T	p.R251T	NM_172366	NP_758954	Q8IX29	FBX16_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)	7	850	-		Ovarian(32;2.06e-05)	251					Q3T1B2|Q3T1B3|Q3T1B4	Missense_Mutation	SNP	ENST00000380254.2	37	c.752G>C	CCDS6068.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	6.779	0.512755	0.12944	0.004541	0.0	ENSG00000214050	ENST00000380254;ENST00000346498;ENST00000518734	T;T;T	0.14391	2.53;2.51;2.53	5.01	2.07	0.26955	.	1.812060	0.03532	U	0.222635	T	0.12518	0.0304	M	0.63428	1.95	0.80722	D	1	B;B;B	0.11235	0.004;0.002;0.004	B;B;B	0.08055	0.003;0.001;0.002	T	0.08186	-1.0734	10	0.39692	T	0.17	-2.8145	6.5907	0.22646	0.0:0.6568:0.0:0.3432	.	239;239;251	Q3T1B3;Q3T1B2;Q8IX29	.;.;FBX16_HUMAN	T	251;239;239	ENSP00000369604:R251T;ENSP00000341416:R239T;ENSP00000429687:R239T	ENSP00000341416:R239T	R	-	2	0	FBXO16	28360698	0.989000	0.36119	0.966000	0.40874	0.149000	0.21700	1.670000	0.37502	0.206000	0.20587	0.591000	0.81541	AGA		0.353	FBXO16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219988.2		NM_172366		29	79	0	0	0	0.008361	0	29	79		
ADHFE1	137872	broad.mit.edu	37	8	67357557	67357557	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr8:67357557C>T	ENST00000396623.3	+	6	489	c.458C>T	c.(457-459)gCa>gTa	p.A153V	ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000379385.4_Missense_Mutation_p.A153V|ADHFE1_ENST00000415254.1_Missense_Mutation_p.A105V	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	153					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)	p.A153V(1)|p.A105V(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			AATCTGTATGCATCCAGCCCT	0.488																																						uc003xwb.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|lung(1)|breast(1)|skin(1)	4						c.(457-459)GCA>GTA		alcohol dehydrogenase, iron containing, 1							256.0	220.0	232.0					8																	67357557		2203	4300	6503	SO:0001583	missense	137872				2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding	g.chr8:67357557C>T	AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"""Alcohol dehydrogenases"""	16354	protein-coding gene	gene with protein product	"""hydroxyacid-oxoacid transhydrogenase"""	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.458C>T	8.37:g.67357557C>T	ENSP00000379865:p.Ala153Val					ADHFE1_uc003xwd.3_RNA|ADHFE1_uc003xwc.3_Missense_Mutation_p.A105V|ADHFE1_uc003xwe.3_RNA|ADHFE1_uc003xwf.3_Intron|ADHFE1_uc011les.1_Missense_Mutation_p.A83V|ADHFE1_uc011leq.1_Intron|ADHFE1_uc011ler.1_Intron	p.A153V	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)		6	492	+		Lung NSC(129;0.197)	153					B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Missense_Mutation	SNP	ENST00000396623.3	37	c.458C>T	CCDS6190.2	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770174	0.69992	.	.	ENSG00000147576	ENST00000523113;ENST00000379385;ENST00000396623;ENST00000415254	T;T;T	0.45276	0.9;0.9;0.9	5.85	5.85	0.93711	Alcohol dehydrogenase, iron-type (1);	0.349867	0.32372	N	0.006197	T	0.50548	0.1622	L	0.52364	1.645	0.46927	D	0.99925	B	0.27765	0.188	B	0.39339	0.297	T	0.48210	-0.9055	10	0.62326	D	0.03	-8.6508	20.1731	0.98165	0.0:1.0:0.0:0.0	.	153	Q8IWW8	HOT_HUMAN	V	88;153;153;105	ENSP00000368695:A153V;ENSP00000379865:A153V;ENSP00000407115:A105V	ENSP00000368695:A153V	A	+	2	0	ADHFE1	67520111	0.703000	0.27826	0.948000	0.38648	0.917000	0.54804	3.609000	0.54117	2.768000	0.95171	0.655000	0.94253	GCA		0.488	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3		NM_144650		10	142	0	0	0	0.008291	0	10	142		
VPS13B	157680	broad.mit.edu	37	8	100844794	100844794	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr8:100844794C>G	ENST00000358544.2	+	52	9714	c.9603C>G	c.(9601-9603)agC>agG	p.S3201R	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.S3176R	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3201					protein transport (GO:0015031)			p.S3201R(1)|p.S3176R(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGTGCTGGAGCCTGCCAGCTA	0.502																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(9601-9603)AGC>AGG		vacuolar protein sorting 13B isoform 5							66.0	61.0	63.0					8																	100844794		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100844794C>G	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.9603C>G	8.37:g.100844794C>G	ENSP00000351346:p.Ser3201Arg					VPS13B_uc003yiw.2_Missense_Mutation_p.S3176R	p.S3201R	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		52	9714	+	Breast(36;3.73e-07)		3201					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.9603C>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635998	0.67130	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.79247	-1.24;-1.25	5.62	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.81297	0.4793	L	0.59436	1.845	0.80722	D	1	D;D	0.57899	0.958;0.981	P;P	0.55161	0.663;0.77	T	0.82604	-0.0375	10	0.72032	D	0.01	.	11.0413	0.47833	0.0:0.8013:0.1289:0.0698	.	3176;3201	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	R	3176;3201	ENSP00000349685:S3176R;ENSP00000351346:S3201R	ENSP00000349685:S3176R	S	+	3	2	VPS13B	100913970	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.242000	0.43106	1.369000	0.46134	0.557000	0.71058	AGC		0.502	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1		NM_184042		5	94	0	0	0	0.001168	0	5	94		
LRRC6	23639	broad.mit.edu	37	8	133584686	133584686	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr8:133584686G>T	ENST00000519595.1	-	12	1367	c.1269C>A	c.(1267-1269)caC>caA	p.H423Q	LRRC6_ENST00000518642.1_3'UTR|LRRC6_ENST00000250173.1_Missense_Mutation_p.H423Q			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	423					cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)		p.H423Q(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CAGGGAATGAGTGCTTGCTAG	0.378																																						uc003ytk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|kidney(1)	2						c.(1267-1269)CAC>CAA		leucine rich repeat containing 6							266.0	243.0	251.0					8																	133584686		2203	4300	6503	SO:0001583	missense	23639					cytoplasm		g.chr8:133584686G>T	U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"""leucine rich testes protein"""	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.1269C>A	8.37:g.133584686G>T	ENSP00000429791:p.His423Gln					LRRC6_uc003ytl.2_RNA	p.H423Q	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		12	1343	-	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		423					Q13648|Q4G183	Missense_Mutation	SNP	ENST00000519595.1	37	c.1269C>A		.	.	.	.	.	.	.	.	.	.	G	10.28	1.306892	0.23821	.	.	ENSG00000129295	ENST00000519595;ENST00000522789;ENST00000250173	T;T;T	0.46451	0.87;1.02;0.87	5.5	0.355	0.16069	.	0.770885	0.12880	N	0.431508	T	0.27559	0.0677	L	0.44542	1.39	0.23628	N	0.997255	B	0.30686	0.29	B	0.21546	0.035	T	0.13045	-1.0524	10	0.39692	T	0.17	-4.1216	4.3794	0.11286	0.5641:0.164:0.2719:0.0	.	423	Q86X45	LRRC6_HUMAN	Q	423;163;423	ENSP00000429791:H423Q;ENSP00000428015:H163Q;ENSP00000250173:H423Q	ENSP00000250173:H423Q	H	-	3	2	LRRC6	133653868	0.984000	0.35163	0.813000	0.32504	0.513000	0.34164	0.215000	0.17562	-0.091000	0.12440	-0.302000	0.09304	CAC		0.378	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1		NM_012472		8	208	1	0	0.00307968	0.00308	0.00320487	8	208		
ZFAT	57623	broad.mit.edu	37	8	135615035	135615035	+	Silent	SNP	G	G	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr8:135615035G>T	ENST00000377838.3	-	6	1101	c.927C>A	c.(925-927)gcC>gcA	p.A309A	ZFAT_ENST00000520727.1_Silent_p.A297A|ZFAT_ENST00000429442.2_Silent_p.A297A|ZFAT_ENST00000520214.1_Silent_p.A297A|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000523399.1_Silent_p.A247A|ZFAT_ENST00000520356.1_Silent_p.A297A	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	309					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.A297A(1)|p.A309A(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TGGCCTTGATGGCACTGGCAT	0.562																																						uc003yup.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	central_nervous_system(1)	1						c.(925-927)GCC>GCA		zinc finger protein 406 isoform ZFAT-1							90.0	94.0	93.0					8																	135615035		2056	4203	6259	SO:0001819	synonymous_variant	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135615035G>T	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.927C>A	8.37:g.135615035G>T						ZFAT_uc003yun.2_Silent_p.A297A|ZFAT_uc003yuo.2_Silent_p.A297A|ZFAT_uc010meh.2_Silent_p.A297A|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Silent_p.A297A|ZFAT_uc010mej.2_Silent_p.A247A|ZFAT_uc003yur.2_Silent_p.A297A	p.A309A	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		6	1102	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		309			C2H2-type 4.		B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Silent	SNP	ENST00000377838.3	37	c.927C>A	CCDS47924.1																																																																																				0.562	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1		NM_001029939		5	49	1	0	0.000602214	0.000602	0.000631832	5	49		
MPDZ	8777	broad.mit.edu	37	9	13162702	13162702	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr9:13162702G>A	ENST00000319217.7	-	23	3594	c.3347C>T	c.(3346-3348)tCa>tTa	p.S1116L	MPDZ_ENST00000381022.2_Missense_Mutation_p.S1116L|MPDZ_ENST00000546205.1_Missense_Mutation_p.S1130L|MPDZ_ENST00000538841.1_Missense_Mutation_p.S8L|MPDZ_ENST00000541718.1_Missense_Mutation_p.S1116L|MPDZ_ENST00000381015.4_Missense_Mutation_p.S1116L|MPDZ_ENST00000447879.1_Missense_Mutation_p.S1116L|MPDZ_ENST00000536827.1_Missense_Mutation_p.S1116L	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1116					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)	p.S1116L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GCCAGTGTATGAAGAAAAAAT	0.378																																						uc010mia.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(5)|central_nervous_system(1)	6						c.(3346-3348)TCA>TTA		multiple PDZ domain protein							95.0	90.0	92.0					9																	13162702		1837	4093	5930	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13162702G>A	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.3347C>T	9.37:g.13162702G>A	ENSP00000320006:p.Ser1116Leu					MPDZ_uc010mhx.2_Missense_Mutation_p.S8L|MPDZ_uc011lmm.1_Missense_Mutation_p.S8L|MPDZ_uc003zkz.3_Intron|MPDZ_uc010mhy.2_Missense_Mutation_p.S1116L|MPDZ_uc010mhz.2_Missense_Mutation_p.S1116L|MPDZ_uc011lmn.1_Missense_Mutation_p.S1116L|MPDZ_uc003zlb.3_Missense_Mutation_p.S1116L	p.S1116L	NM_003829	NP_003820	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	22	3404	-			1116					A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.3347C>T		.	.	.	.	.	.	.	.	.	.	G	17.56	3.420241	0.62622	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205;ENST00000433359;ENST00000542239	T;T;T;T;T;T;T;T;T;T;T	0.50813	2.75;2.71;2.71;2.58;2.68;2.68;2.71;2.75;2.72;0.73;0.77	5.81	5.81	0.92471	.	0.185294	0.26442	N	0.024354	T	0.47173	0.1431	L	0.47190	1.495	0.80722	D	1	B;B;B;B;P	0.35684	0.381;0.072;0.348;0.115;0.515	B;B;B;B;B	0.35688	0.196;0.063;0.108;0.086;0.208	T	0.42531	-0.9446	10	0.48119	T	0.1	.	20.0805	0.97772	0.0:0.0:1.0:0.0	.	1116;8;1116;1066;1116	B7ZMI4;B7ZB24;O75970-3;E7EPZ1;O75970-2	.;.;.;.;.	L	1116;1116;1116;122;8;1116;1116;1116;1066;1130;8;8	ENSP00000320006:S1116L;ENSP00000439807:S1116L;ENSP00000370410:S1116L;ENSP00000444230:S122L;ENSP00000444717:S8L;ENSP00000444151:S1116L;ENSP00000415208:S1116L;ENSP00000370403:S1116L;ENSP00000446358:S1130L;ENSP00000389705:S8L;ENSP00000443672:S8L	ENSP00000320006:S1116L	S	-	2	0	MPDZ	13152702	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	6.741000	0.74837	2.755000	0.94549	0.650000	0.86243	TCA		0.378	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2		NM_003829		18	6	0	0	0	0.006122	0	18	6		
RNF20	56254	broad.mit.edu	37	9	104314697	104314697	+	Silent	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr9:104314697G>A	ENST00000389120.3	+	13	1653	c.1563G>A	c.(1561-1563)caG>caA	p.Q521Q	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	521					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q521Q(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		CCCTCCTGCAGTCCCAGTCTA	0.498																																						uc004bbn.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8						c.(1561-1563)CAG>CAA		ring finger protein 20							157.0	172.0	167.0					9																	104314697		2203	4300	6503	SO:0001819	synonymous_variant	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104314697G>A	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1563G>A	9.37:g.104314697G>A							p.Q521Q	NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	13	1653	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	521			Potential.		A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Silent	SNP	ENST00000389120.3	37	c.1563G>A	CCDS35084.1																																																																																				0.498	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1		NM_019592		9	234	0	0	0	0.006214	0	9	234		
KIAA0368	23392	broad.mit.edu	37	9	114176711	114176711	+	Missense_Mutation	SNP	C	C	T	rs533941334		TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr9:114176711C>T	ENST00000338205.5	-	18	2204	c.1985G>A	c.(1984-1986)gGa>gAa	p.G662E	KIAA0368_ENST00000259335.4_Missense_Mutation_p.G840E|RNA5SP294_ENST00000411306.1_RNA			Q5VYK3	ECM29_HUMAN	KIAA0368	668					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)		p.G840E(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						ATTCCTACCTCCAACACCTGC	0.413													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19409	0.0		0.0	False		,,,				2504	0.0					uc004bfe.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(2518-2520)GGA>GAA		KIAA0368 protein							122.0	115.0	118.0					9																	114176711		1929	4133	6062	SO:0001583	missense	23392							g.chr9:114176711C>T	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.1985G>A	9.37:g.114176711C>T	ENSP00000339889:p.Gly662Glu					KIAA0368_uc010muc.1_Missense_Mutation_p.G662E	p.G840E	NM_001080398	NP_001073867					20	2519	-								O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37	c.2519G>A		.	.	.	.	.	.	.	.	.	.	C	28.7	4.946961	0.92593	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.63417	-0.04	5.28	5.28	0.74379	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72020	0.3409	L	0.60455	1.87	0.80722	D	1	D;D	0.65815	0.991;0.995	P;P	0.61722	0.766;0.893	T	0.65245	-0.6215	10	0.09084	T	0.74	.	19.2821	0.94055	0.0:1.0:0.0:0.0	.	668;137	Q5VYK3;B3KXF2	ECM29_HUMAN;.	E	662;840;137	ENSP00000259335:G840E	ENSP00000259335:G840E	G	-	2	0	KIAA0368	113216532	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	7.414000	0.80117	2.626000	0.88956	0.561000	0.74099	GGA		0.413	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2		NM_014686		7	64	0	0	0	0.00308	0	7	64		
NUP188	23511	broad.mit.edu	37	9	131755675	131755675	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr9:131755675G>C	ENST00000372577.2	+	26	2861	c.2840G>C	c.(2839-2841)gGc>gCc	p.G947A		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	947					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.G947A(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GGCAGTGATGGCTCAAAGGTA	0.522																																						uc004bws.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						c.(2839-2841)GGC>GCC		nucleoporin 188kDa							102.0	85.0	91.0					9																	131755675		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131755675G>C	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.2840G>C	9.37:g.131755675G>C	ENSP00000361658:p.Gly947Ala					NUP188_uc004bwu.2_Missense_Mutation_p.G290A	p.G947A	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN			26	2862	+			947					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.2840G>C	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745532	0.89663	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.33865	1.39	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.61837	0.2379	M	0.65975	2.015	0.80722	D	1	D;D	0.76494	0.976;0.999	P;D	0.83275	0.882;0.996	T	0.60657	-0.7220	10	0.72032	D	0.01	-14.4814	19.6321	0.95713	0.0:0.0:1.0:0.0	.	280;947	E9PET9;Q5SRE5	.;NU188_HUMAN	A	836;947	ENSP00000361658:G947A	ENSP00000349125:G836A	G	+	2	0	NUP188	130795496	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.238000	0.95380	2.884000	0.98904	0.655000	0.94253	GGC		0.522	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2				3	42	0	0	0	0.004672	0	3	42		
POMT1	10585	broad.mit.edu	37	9	134381814	134381814	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr9:134381814A>G	ENST00000372228.3	+	4	433	c.254A>G	c.(253-255)aAt>aGt	p.N85S	POMT1_ENST00000354713.4_Silent_p.Q49Q|POMT1_ENST00000541219.1_Missense_Mutation_p.I3V|POMT1_ENST00000402686.3_Missense_Mutation_p.N85S|POMT1_ENST00000419118.2_5'UTR|POMT1_ENST00000404875.2_5'UTR|POMT1_ENST00000423007.1_Missense_Mutation_p.N85S|POMT1_ENST00000341012.7_Missense_Mutation_p.N31S	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	85					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)	p.N85S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TTCGATGGCAATTTTTTGTGG	0.343																																						uc004cav.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)	1						c.(253-255)AAT>AGT		protein-O-mannosyltransferase 1 isoform a							214.0	215.0	215.0					9																	134381814		2203	4300	6503	SO:0001583	missense	10585				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr9:134381814A>G	AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	9202	protein-coding gene	gene with protein product	"""dolichyl-phosphate-mannose-protein mannosyltransferase"""	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.254A>G	9.37:g.134381814A>G	ENSP00000361302:p.Asn85Ser					POMT1_uc011mci.1_Missense_Mutation_p.N85S|POMT1_uc004cax.2_Missense_Mutation_p.N85S|POMT1_uc011mcj.1_Missense_Mutation_p.I3V|POMT1_uc004cau.2_Missense_Mutation_p.N85S|POMT1_uc004caw.2_Missense_Mutation_p.N31S|POMT1_uc011mck.1_5'UTR|POMT1_uc011mcl.1_5'UTR|POMT1_uc011mcm.1_Silent_p.Q49Q	p.N85S	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)	4	456	+		Myeloproliferative disorder(178;0.204)	85			Helical; (Potential).		B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Missense_Mutation	SNP	ENST00000372228.3	37	c.254A>G	CCDS6943.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.10|16.10	3.027494|3.027494	0.54683|0.54683	.|.	.|.	ENSG00000130714|ENSG00000130714	ENST00000541219|ENST00000423007;ENST00000341012;ENST00000372228;ENST00000402686;ENST00000418774;ENST00000448212	T|D;D;D;D;D;D	0.81330|0.85171	-1.48|-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.61|5.61	5.61|5.61	0.85477|0.85477	.|Glycosyl transferase, family 39 (1);	.|0.040891	.|0.85682	.|D	.|0.000000	D|D	0.87597|0.87597	0.6217|0.6217	L|L	0.33293|0.33293	1|1	0.80722|0.80722	D|D	1|1	B|D;D;B	0.13594|0.89917	0.008|1.0;1.0;0.383	B|D;D;B	0.14023|0.91635	0.01|0.998;0.999;0.155	D|D	0.85294|0.85294	0.1069|0.1069	9|10	0.54805|0.23302	T|T	0.06|0.38	-22.0925|-22.0925	14.9947|14.9947	0.71421|0.71421	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	3|85;85;85	B4DI80|B4DWD8;Q9Y6A1;Q9Y6A1-2	.|.;POMT1_HUMAN;.	V|S	3|85;31;85;85;85;31	ENSP00000440895:I3V|ENSP00000404119:N85S;ENSP00000343034:N31S;ENSP00000361302:N85S;ENSP00000385797:N85S;ENSP00000390737:N85S;ENSP00000403736:N31S	ENSP00000440895:I3V|ENSP00000343034:N31S	I|N	+|+	1|2	0|0	POMT1|POMT1	133371635|133371635	1.000000|1.000000	0.71417|0.71417	0.973000|0.973000	0.42090|0.42090	0.676000|0.676000	0.39594|0.39594	8.470000|8.470000	0.90399|0.90399	2.118000|2.118000	0.64928|0.64928	0.533000|0.533000	0.62120|0.62120	ATT|AAT		0.343	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1		NM_007171		10	238	0	0	0	0.001855	0	10	238		
TTF1	7270	broad.mit.edu	37	9	135276961	135276961	+	Silent	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr9:135276961G>A	ENST00000334270.2	-	2	1287	c.1248C>T	c.(1246-1248)agC>agT	p.S416S		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	416					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.S416S(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CAAAGAGTGTGCTCTCAGAGT	0.463																																						uc004cbl.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(1246-1248)AGC>AGT		transcription termination factor, RNA polymerase							188.0	165.0	173.0					9																	135276961		2203	4300	6503	SO:0001819	synonymous_variant	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135276961G>A	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.1248C>T	9.37:g.135276961G>A						TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Intron	p.S416S	NM_007344	NP_031370	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	2	1300	-		Myeloproliferative disorder(178;0.204)	416					A1L160|Q4VXF3|Q58EY2|Q6P5T5	Silent	SNP	ENST00000334270.2	37	c.1248C>T	CCDS6948.1																																																																																				0.463	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2		NM_007344		5	88	0	0	0	0.001168	0	5	88		
COL5A1	1289	broad.mit.edu	37	9	137619185	137619185	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr9:137619185A>T	ENST00000371817.3	+	5	1142	c.728A>T	c.(727-729)gAc>gTc	p.D243V		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	243	Laminin G-like.|Nonhelical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.D243V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TACAGCCCTGACTGTGACACC	0.532																																						uc004cfe.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(727-729)GAC>GTC		alpha 1 type V collagen preproprotein							111.0	98.0	102.0					9																	137619185		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137619185A>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.728A>T	9.37:g.137619185A>T	ENSP00000360882:p.Asp243Val						p.D243V	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	5	1110	+		Myeloproliferative disorder(178;0.0341)	243			Nonhelical region.|Laminin G-like.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.728A>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.311922	0.40895	.	.	ENSG00000130635	ENST00000371817	T	0.02525	4.26	4.19	4.19	0.49359	Concanavalin A-like lectin/glucanase (1);	0.061993	0.64402	U	0.000007	T	0.19485	0.0468	M	0.92604	3.325	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.04495	-1.0947	10	0.48119	T	0.1	.	13.2191	0.59877	1.0:0.0:0.0:0.0	.	243	P20908	CO5A1_HUMAN	V	243	ENSP00000360882:D243V	ENSP00000360882:D243V	D	+	2	0	COL5A1	136759006	1.000000	0.71417	1.000000	0.80357	0.301000	0.27625	8.780000	0.91799	1.508000	0.48769	0.260000	0.18958	GAC		0.532	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2		NM_000093		7	68	0	0	0	0.001984	0	7	68		
FBXW5	54461	broad.mit.edu	37	9	139837920	139837920	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr9:139837920C>A	ENST00000325285.3	-	3	311	c.232G>T	c.(232-234)Gac>Tac	p.D78Y	FBXW5_ENST00000483559.1_5'UTR|C8G_ENST00000224181.3_5'Flank	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	78					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)	p.D78Y(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GGCACCGTGTCATACAGCCGC	0.657																																						uc004cjx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(232-234)GAC>TAC		F-box and WD repeat domain containing 5							62.0	45.0	51.0					9																	139837920		2199	4298	6497	SO:0001583	missense	54461						catalytic activity|protein binding	g.chr9:139837920C>A	BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13613	protein-coding gene	gene with protein product		609072	"""F-box and WD-40 domain protein 5"""				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.232G>T	9.37:g.139837920C>A	ENSP00000313034:p.Asp78Tyr					FBXW5_uc010nbx.2_5'Flank|FBXW5_uc004cjy.2_5'UTR|FBXW5_uc004cjz.2_5'UTR|C8G_uc004cka.2_5'Flank	p.D78Y	NM_018998	NP_061871	Q969U6	FBXW5_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)	3	383	-	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	78					B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Missense_Mutation	SNP	ENST00000325285.3	37	c.232G>T	CCDS7014.1	.	.	.	.	.	.	.	.	.	.	c	11.28	1.592155	0.28357	.	.	ENSG00000159069	ENST00000325285;ENST00000428398;ENST00000443788	T;T;D	0.84070	-0.67;0.97;-1.8	4.23	3.31	0.37934	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);F-box domain, Skp2-like (1);	0.049177	0.85682	D	0.000000	D	0.84097	0.5397	L	0.36672	1.1	0.58432	D	0.999994	D	0.71674	0.998	D	0.64237	0.923	T	0.80455	-0.1375	10	0.22109	T	0.4	-19.8322	13.9215	0.63935	0.0:0.8463:0.1537:0.0	.	78	Q969U6	FBXW5_HUMAN	Y	78	ENSP00000313034:D78Y;ENSP00000404829:D78Y;ENSP00000394011:D78Y	ENSP00000313034:D78Y	D	-	1	0	FBXW5	138957741	1.000000	0.71417	0.012000	0.15200	0.975000	0.68041	7.060000	0.76692	0.951000	0.37770	0.556000	0.70494	GAC		0.657	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055227.1		NM_018998		10	16	1	0	3.07112e-06	0.010729	3.38882e-06	10	16		
STARD8	9754	broad.mit.edu	37	X	67940175	67940175	+	Silent	SNP	A	A	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chrX:67940175A>C	ENST00000252336.6	+	7	2091	c.1719A>C	c.(1717-1719)ccA>ccC	p.P573P	STARD8_ENST00000374599.3_Silent_p.P653P|STARD8_ENST00000374597.3_Silent_p.P573P	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	573	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)	p.P573P(4)|p.P653P(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						TTGGGGTGCCACCCCTCATCC	0.577																																						uc004dxa.2		NaN																	6	Substitution - coding silent(6)		urinary_tract(3)|central_nervous_system(3)	breast(3)|ovary(2)|pancreas(1)	6						c.(1717-1719)CCA>CCC		StAR-related lipid transfer (START) domain							62.0	43.0	49.0					X																	67940175		2202	4300	6502	SO:0001819	synonymous_variant	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67940175A>C	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.1719A>C	X.37:g.67940175A>C						STARD8_uc004dxb.2_Silent_p.P653P|STARD8_uc004dxc.3_Silent_p.P573P	p.P573P	NM_014725	NP_055540	Q92502	STAR8_HUMAN			7	2091	+			573			Rho-GAP.		A8K6T2|D3DVT9|Q5JST0|Q68DG7	Silent	SNP	ENST00000252336.6	37	c.1719A>C	CCDS14390.1																																																																																				0.577	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2		NM_014725		4	4	0	0	0	0.001168	0	4	4		
SLC6A14	11254	broad.mit.edu	37	X	115573895	115573895	+	Silent	SNP	A	A	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chrX:115573895A>G	ENST00000371900.4	+	4	475	c.387A>G	c.(385-387)acA>acG	p.T129T		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	129					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)	p.T129T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TTTTTGTGACAATCTATTACA	0.303																																						uc004eqi.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|pancreas(1)	3						c.(385-387)ACA>ACG		solute carrier family 6 (amino acid	L-Proline(DB00172)						143.0	137.0	139.0					X																	115573895		2203	4299	6502	SO:0001819	synonymous_variant	11254				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chrX:115573895A>G	AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"""Solute carriers"""	11047	protein-coding gene	gene with protein product		300444	"""solute carrier family 6 (neurotransmitter transporter), member 14"""			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.387A>G	X.37:g.115573895A>G						SLC6A14_uc011mtm.1_Intron	p.T129T	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN			4	491	+			129			Helical; Name=3; (Potential).		Q5H942	Silent	SNP	ENST00000371900.4	37	c.387A>G	CCDS14570.1																																																																																				0.303	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1				13	79	0	0	0	0.001855	0	13	79		
TENM1	10178	broad.mit.edu	37	X	123556134	123556134	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chrX:123556134C>G	ENST00000371130.3	-	23	4501	c.4438G>C	c.(4438-4440)Gac>Cac	p.D1480H	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.D1487H	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1480					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.D1482H(1)									GAAAAACAGTCACAGTTTGGA	0.438																																						uc004euj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(4438-4440)GAC>CAC		odz, odd Oz/ten-m homolog 1 isoform 3							123.0	94.0	104.0					X																	123556134		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123556134C>G	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.4438G>C	X.37:g.123556134C>G	ENSP00000360171:p.Asp1480His					ODZ1_uc011muj.1_Missense_Mutation_p.D1486H|ODZ1_uc010nqy.2_Missense_Mutation_p.D1487H	p.D1480H	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			23	4502	-			1480			Extracellular (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.4438G>C	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503011	0.85176	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86627	-2.15;-2.12	5.31	5.31	0.75309	Six-bladed beta-propeller, TolB-like (1);	0.054991	0.64402	D	0.000001	D	0.91968	0.7456	M	0.69185	2.1	0.80722	D	1	D;D;D	0.76494	0.999;0.974;0.983	P;P;P	0.60789	0.879;0.753;0.811	D	0.92827	0.6277	10	0.72032	D	0.01	.	18.1135	0.89543	0.0:1.0:0.0:0.0	.	1486;1487;1480	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	H	1480;1487	ENSP00000360171:D1480H;ENSP00000403954:D1487H	ENSP00000360171:D1480H	D	-	1	0	ODZ1	123383815	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.729000	0.84864	2.213000	0.71641	0.594000	0.82650	GAC		0.438	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1		NM_014253		9	46	0	0	0	0.004482	0	9	46		
TMEM184B	25829	broad.mit.edu	37	22	38626692	38626692	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr22:38626692delG	ENST00000361906.3	-	5	716	c.508delC	c.(508-510)ctgfs	p.L170fs	RN7SL704P_ENST00000478699.2_RNA|RP1-5O6.5_ENST00000420172.1_RNA|TMEM184B_ENST00000361684.4_Frame_Shift_Del_p.L170fs	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	170						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					CAGAACCTCAGAAATCCGATG	0.607																																						uc003avf.1		NaN																	0					0						c.(508-510)CTGfs		transmembrane protein 184B							58.0	48.0	51.0					22																	38626692		2203	4300	6503	SO:0001589	frameshift_variant	25829					integral to membrane		g.chr22:38626692delG	AL096879	CCDS13969.2	22q12	2008-02-04	2007-07-11	2007-07-11	ENSG00000198792	ENSG00000198792			1310	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 5"""	C22orf5		10591208	Standard	NM_012264		Approved	HS5O6A, DKFZP586A1024, FM08	uc003avf.1	Q9Y519	OTTHUMG00000030557	ENST00000361906.3:c.508delC	22.37:g.38626692delG	ENSP00000355210:p.Leu170fs					TMEM184B_uc003avg.1_Frame_Shift_Del_p.L170fs|TMEM184B_uc003avh.1_Frame_Shift_Del_p.L104fs|TMEM184B_uc010gxl.1_RNA	p.L170fs	NM_012264	NP_036396	Q9Y519	T184B_HUMAN			5	732	-	Melanoma(58;0.045)		170					A8K9D7|Q63HM8|Q7Z421|Q8NBM5|Q9UGT8|Q9UGT9|Q9UGV5	Frame_Shift_Del	DEL	ENST00000361906.3	37	c.508delC	CCDS13969.2																																																																																				0.607	TMEM184B-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075445.4		NM_012264		7	13	NaN	NaN	NaN	NaN	NaN	7	13	---	---
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937|rs74800608|rs375843790|rs74185804|rs202010288	byFrequency	TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764														5004	0.999201	0.9992	1.0	5008	,	,		2724	1.0		0.999	False		,,,				2504	0.998					uc003bwm.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(97-102)CAACCG>CAG		synapsin II isoform IIa																																						6854				neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	g.chr3:12046124_12046126delAGC		CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12046124_12046126delAGC						SYN2_uc003bwl.1_In_Frame_Del_p.P40del	p.P40del	NM_133625	NP_598328	Q92777	SYN2_HUMAN			1	263_265	+			40					A8MY98	In_Frame_Del	DEL	ENST00000432424.2	37	c.99_101delAGC																																																																																					0.764	SYN2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000339528.3		NM_133625		3	5	NaN	NaN	NaN	NaN	NaN	3	5	---	---
AKAP9	10142	broad.mit.edu	37	7	91726612	91726613	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr7:91726612_91726613insA	ENST00000359028.2	+	41	10576_10577	c.10351_10352insA	c.(10351-10353)gaafs	p.E3451fs	AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.E3447fs|AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.E3397fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3451					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CCAGAAGCAAGAACTAGAACGA	0.376			T	BRAF	papillary thyroid																																	uc003ulg.2		NaN		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(10339-10341)GAAfs		A-kinase anchor protein 9 isoform 2																																				SO:0001589	frameshift_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91726612_91726613insA	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.10353dupA	7.37:g.91726614_91726614dupA	ENSP00000351922:p.Glu3451fs					AKAP9_uc003ulf.2_Frame_Shift_Ins_p.E3439fs|AKAP9_uc003uli.2_Frame_Shift_Ins_p.E3070fs|AKAP9_uc003ulj.2_Frame_Shift_Ins_p.E1217fs|AKAP9_uc003ull.2_Frame_Shift_Ins_p.E343fs	p.E3447fs	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		41	10564_10565	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3451			Potential.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Frame_Shift_Ins	INS	ENST00000359028.2	37	c.10339_10340insA																																																																																					0.376	AKAP9-202	KNOWN	basic	protein_coding	protein_coding			NM_005751		19	23	NaN	NaN	NaN	NaN	NaN	19	23	---	---
