#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
KIF17	57576	broad.mit.edu	37	1	21009246	21009246	+	Missense_Mutation	SNP	G	G	A	rs370565385		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr1:21009246G>A	ENST00000247986.2	-	11	2673	c.2363C>T	c.(2362-2364)tCg>tTg	p.S788L	KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000375044.1_Missense_Mutation_p.S688L|KIF17_ENST00000400463.3_Missense_Mutation_p.S788L			Q9P2E2	KIF17_HUMAN	kinesin family member 17	788					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GTCCTCATCCGAGTTCTGCAG	0.607																																						uc001bdr.4																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(2362-2364)tCg>tTg		Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.		G	LEU/SER,LEU/SER	0,4406		0,0,2203	77.0	68.0	71.0		2363,2363	5.8	1.0	1		71	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KIF17	NM_001122819.1,NM_020816.2	145,145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	788/1029,788/1030	21009246	1,13005	2203	4300	6503	SO:0001583	missense	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21009246G>A	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.2363C>T	1.37:g.21009246G>A	ENSP00000247986:p.Ser788Leu					KIF17_uc001bdp.4_Missense_Mutation_p.S66L|KIF17_uc009vpx.3_Missense_Mutation_p.S158L|KIF17_uc001bds.4_Missense_Mutation_p.S788L	p.S788L	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	10	2481	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	788					A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	37	c.2363C>T	CCDS213.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.214614	0.39102	0.0	1.16E-4	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986;ENST00000321188	T;T;T	0.71934	-0.61;-0.5;-0.5	5.76	5.76	0.90799	.	0.320980	0.17268	U	0.180507	T	0.68997	0.3062	L	0.61218	1.895	0.25065	N	0.991034	P;P;B	0.39964	0.571;0.697;0.384	B;B;B	0.37550	0.129;0.253;0.078	T	0.64339	-0.6431	10	0.30078	T	0.28	.	17.1331	0.86732	0.0:0.0:1.0:0.0	.	788;788;788	B0I1R5;Q9P2E2-3;Q9P2E2	.;.;KIF17_HUMAN	L	688;788;788;169	ENSP00000364184:S688L;ENSP00000383311:S788L;ENSP00000247986:S788L	ENSP00000247986:S788L	S	-	2	0	KIF17	20881833	0.257000	0.24022	0.967000	0.41034	0.478000	0.33099	2.751000	0.47508	2.724000	0.93272	0.563000	0.77884	TCG		0.607	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816	
DNALI1	7802	broad.mit.edu	37	1	38025070	38025070	+	Missense_Mutation	SNP	C	C	T	rs375269116		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr1:38025070C>T	ENST00000296218.7	+	3	446	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C	DNALI1_ENST00000541606.1_Intron	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	124					cellular component movement (GO:0006928)|metabolic process (GO:0008152)|single fertilization (GO:0007338)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|filopodium (GO:0030175)	microtubule motor activity (GO:0003777)			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGCCCTGTCCGCAGGGAACT	0.587																																						uc001cbj.3																			0				breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5						c.(436-438)Cgc>Tgc		Homo sapiens dynein, axonemal, light intermediate chain 1 (DNALI1), mRNA.		C	CYS/ARG	0,4406		0,0,2203	61.0	51.0	54.0		436	5.1	1.0	1		54	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNALI1	NM_003462.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	146/281	38025070	1,13005	2203	4300	6503	SO:0001583	missense	7802				cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity	g.chr1:38025070C>T	AF006386	CCDS420.1	1p35.1	2008-07-18	2006-09-04		ENSG00000163879	ENSG00000163879		"""Axonemal dyneins"""	14353	protein-coding gene	gene with protein product	"""inner dynein arm, homolog of clamydomonas"", ""dJ423B22.5 (axonemal dynein light chain (hp28))"""	602135	"""dynein, axonemal, light intermediate polypeptide 1"""			9284741	Standard	NM_003462		Approved	P28, hp28, dJ423B22.5	uc001cbj.3	O14645	OTTHUMG00000004222	ENST00000296218.7:c.436C>T	1.37:g.38025070C>T	ENSP00000296218:p.Arg146Cys					DNALI1_uc010oie.2_Intron	p.R146C	NM_003462	NP_003453	O14645	IDLC_HUMAN			2	446	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	124					A8K387|B4DHN6|Q05BL9|Q5HYE2|Q5TGH0|Q7L0I5	Missense_Mutation	SNP	ENST00000296218.7	37	c.436C>T	CCDS420.1	.	.	.	.	.	.	.	.	.	.	C	33	5.203546	0.95033	0.0	1.16E-4	ENSG00000163879	ENST00000296218	T	0.70282	-0.47	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.89167	0.6638	H	0.96861	3.895	0.80722	D	1	D	0.76494	0.999	D	0.63957	0.92	D	0.92898	0.6337	10	0.87932	D	0	.	18.8186	0.92088	0.0:1.0:0.0:0.0	.	124	O14645	IDLC_HUMAN	C	146	ENSP00000296218:R146C	ENSP00000296218:R146C	R	+	1	0	DNALI1	37797657	1.000000	0.71417	0.958000	0.39756	0.995000	0.86356	7.692000	0.84203	2.517000	0.84864	0.563000	0.77884	CGC		0.587	DNALI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012159.1	NM_003462	
TIE1	7075	broad.mit.edu	37	1	43784978	43784978	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr1:43784978G>T	ENST00000372476.3	+	18	3074	c.2995G>T	c.(2995-2997)Ggc>Tgc	p.G999C	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.G644C	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	999	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGCAGACTTCGGCCTTTCTCG	0.577																																						uc001ciu.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(2995-2997)Ggc>Tgc		Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.							109.0	104.0	106.0					1																	43784978		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43784978G>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2995G>T	1.37:g.43784978G>T	ENSP00000361554:p.Gly999Cys					TIE1_uc010oke.2_Missense_Mutation_p.G954C|TIE1_uc009vwq.3_Missense_Mutation_p.G955C|TIE1_uc010okg.2_Missense_Mutation_p.G644C|TIE1_uc021omo.1_5'Flank	p.G999C	NM_005424	NP_005415	P35590	TIE1_HUMAN			17	3172	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	999			Protein kinase.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.2995G>T	CCDS482.1	.	.	.	.	.	.	.	.	.	.	G	33	5.247955	0.95305	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	D;D	0.93133	-3.17;-3.17	5.97	5.97	0.96955	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.39759	N	0.001261	D	0.98147	0.9388	H	0.97158	3.95	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98604	1.0660	10	0.87932	D	0	.	20.428	0.99075	0.0:0.0:1.0:0.0	.	954;644;999	B4DTW8;B4DKW0;P35590	.;.;TIE1_HUMAN	C	999;402;282;644	ENSP00000361554:G999C;ENSP00000411728:G644C	ENSP00000361553:G402C	G	+	1	0	TIE1	43557565	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	9.807000	0.99171	2.837000	0.97791	0.655000	0.94253	GGC		0.577	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424	
FLG	2312	broad.mit.edu	37	1	152284263	152284263	+	Silent	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr1:152284263G>A	ENST00000368799.1	-	3	3134	c.3099C>T	c.(3097-3099)caC>caT	p.H1033H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1033	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCGGGATCCGTGTCTTTCTC	0.567									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(3097-3099)caC>caT		Homo sapiens filaggrin (FLG), mRNA.							359.0	359.0	359.0					1																	152284263		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152284263G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3099C>T	1.37:g.152284263G>A						AK056431_uc001ezv.3_5'Flank	p.H1033H	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3135	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1033			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.3099C>T	CCDS30860.1																																																																																				0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
LCE3A	353142	broad.mit.edu	37	1	152595450	152595450	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr1:152595450C>T	ENST00000335674.1	-	1	129	c.130G>A	c.(130-132)Gag>Aag	p.E44K		NM_178431.1	NP_848518.1	Q5TA76	LCE3A_HUMAN	late cornified envelope 3A	44					keratinization (GO:0031424)					endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCTGCGCTCGGAGCTGGGC	0.657																																						uc010pdt.2																			0				endometrium(1)|lung(5)	6						c.(130-132)Gag>Aag		Homo sapiens late cornified envelope 3A (LCE3A), mRNA.							47.0	50.0	49.0					1																	152595450		2203	4300	6503	SO:0001583	missense	353142				keratinization			g.chr1:152595450C>T		CCDS1017.1	1q21.3	2008-02-05			ENSG00000185962	ENSG00000185962		"""Late cornified envelopes"""	29461	protein-coding gene	gene with protein product		612613				11698679	Standard	NM_178431		Approved	LEP13	uc010pdt.2	Q5TA76	OTTHUMG00000012397	ENST00000335674.1:c.130G>A	1.37:g.152595450C>T	ENSP00000335006:p.Glu44Lys						p.E44K	NM_178431	NP_848518	Q5TA76	LCE3A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		0	130	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		44						Missense_Mutation	SNP	ENST00000335674.1	37	c.130G>A	CCDS1017.1	.	.	.	.	.	.	.	.	.	.	C	2.312	-0.357604	0.05138	.	.	ENSG00000185962	ENST00000335674	T	0.03920	3.76	3.61	-0.756	0.11057	.	.	.	.	.	T	0.00998	0.0033	.	.	.	0.09310	N	1	B	0.17465	0.022	B	0.08055	0.003	T	0.48175	-0.9058	8	0.87932	D	0	.	0.9802	0.01434	0.1834:0.4197:0.1787:0.2182	.	44	Q5TA76	LCE3A_HUMAN	K	44	ENSP00000335006:E44K	ENSP00000335006:E44K	E	-	1	0	LCE3A	150862074	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.407000	0.07178	-0.261000	0.09405	-0.913000	0.02753	GAG		0.657	LCE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034517.2	NM_178431	
HMCN1	83872	broad.mit.edu	37	1	186045741	186045741	+	Silent	SNP	A	A	G			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr1:186045741A>G	ENST00000271588.4	+	54	8701	c.8472A>G	c.(8470-8472)gtA>gtG	p.V2824V	HMCN1_ENST00000367492.2_Silent_p.V2824V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2824	Ig-like C2-type 26.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTGATAAAGTATTGATTTTGC	0.428																																						uc001grq.1																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(8470-8472)gtA>gtG		Homo sapiens hemicentin 1 (HMCN1), mRNA.							81.0	76.0	78.0					1																	186045741		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186045741A>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8472A>G	1.37:g.186045741A>G						MIR548F1_uc021pgf.1_Intron	p.V2824V	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			53	8701	+			2824			Ig-like C2-type 26.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.8472A>G	CCDS30956.1																																																																																				0.428	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
LEFTY2	7044	broad.mit.edu	37	1	226127598	226127598	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr1:226127598G>A	ENST00000366820.5	-	2	703	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	LEFTY2_ENST00000420304.2_Intron|RP4-559A3.6_ENST00000513672.1_RNA|LEFTY2_ENST00000474493.1_5'UTR	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	119					blood coagulation (GO:0007596)|cell growth (GO:0016049)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					TGGAAGAGCCGCAGCACGGCC	0.741																																					Colon(172;116 2643 9098 43333)	uc001hpt.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(355-357)Cgg>Tgg		Homo sapiens left-right determination factor 2 (LEFTY2), transcript variant 1, mRNA.							3.0	4.0	3.0					1																	226127598		1594	3362	4956	SO:0001583	missense	7044				cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	g.chr1:226127598G>A	U81523	CCDS1549.1, CCDS53479.1	1q42.1	2008-07-18	2004-11-17	2004-11-17	ENSG00000143768	ENSG00000143768			3122	protein-coding gene	gene with protein product	"""transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)"""	601877	"""endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily)"""	TGFB4, EBAF		9153275	Standard	NM_001172425		Approved	LEFTA, LEFTYA	uc001hpt.2	O00292	OTTHUMG00000037441	ENST00000366820.5:c.355C>T	1.37:g.226127598G>A	ENSP00000355785:p.Arg119Trp					LEFTY2_uc010pvk.2_Intron|LEFTY2_uc009xek.2_Intron	p.R119W	NM_003240	NP_003231	O00292	LFTY2_HUMAN			1	598	-	Breast(184;0.197)		119					B3KNH4|B4E332|E9PDM4|O75611|Q5TE89|Q8NBQ9	Missense_Mutation	SNP	ENST00000366820.5	37	c.355C>T	CCDS1549.1	.	.	.	.	.	.	.	.	.	.	g	19.46	3.832154	0.71258	.	.	ENSG00000143768	ENST00000366820	T	0.72725	-0.68	4.25	3.17	0.36434	Transforming growth factor-beta, N-terminal (1);	0.057733	0.64402	D	0.000002	T	0.78861	0.4350	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	D	0.63597	0.916	T	0.78252	-0.2276	10	0.44086	T	0.13	.	8.7823	0.34798	0.0:0.0:0.6139:0.3861	.	119	O00292	LFTY2_HUMAN	W	119	ENSP00000355785:R119W	ENSP00000355785:R119W	R	-	1	2	LEFTY2	224194221	1.000000	0.71417	1.000000	0.80357	0.571000	0.35966	3.418000	0.52721	2.082000	0.62665	0.561000	0.74099	CGG		0.741	LEFTY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091152.1	NM_003240	
OR2T1	26696	broad.mit.edu	37	1	248569915	248569915	+	Missense_Mutation	SNP	T	T	C	rs373134110		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr1:248569915T>C	ENST00000366474.1	+	1	620	c.620T>C	c.(619-621)tTc>tCc	p.F207S		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTGGATGGCTTCCTCCTAACC	0.537																																						uc010pzm.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39						c.(619-621)tTc>tCc		Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA.		T	SER/PHE	0,4406		0,0,2203	103.0	98.0	99.0		620	3.7	0.9	1		99	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR2T1	NM_030904.1	155	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	207/370	248569915	1,13005	2203	4300	6503	SO:0001583	missense	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248569915T>C	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.620T>C	1.37:g.248569915T>C	ENSP00000355430:p.Phe207Ser						p.F207S	NM_030904	NP_112166	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	620	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		207					Q6IEZ9	Missense_Mutation	SNP	ENST00000366474.1	37	c.620T>C	CCDS31115.1	.	.	.	.	.	.	.	.	.	.	t	15.71	2.914033	0.52546	0.0	1.16E-4	ENSG00000175143	ENST00000366474	T	0.00099	8.73	4.84	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37906	U	0.001899	T	0.00144	0.0004	N	0.11364	0.135	0.09310	N	1	D	0.56521	0.976	P	0.57283	0.817	T	0.66081	-0.6012	10	0.46703	T	0.11	.	9.8694	0.41164	0.0:0.0847:0.0:0.9153	.	207	O43869	OR2T1_HUMAN	S	207	ENSP00000355430:F207S	ENSP00000355430:F207S	F	+	2	0	OR2T1	246636538	0.000000	0.05858	0.906000	0.35671	0.995000	0.86356	-0.494000	0.06451	2.026000	0.59711	0.528000	0.53228	TTC		0.537	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2		
OR51A7	119687	broad.mit.edu	37	11	4929295	4929295	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:4929295G>T	ENST00000359350.4	+	1	696	c.696G>T	c.(694-696)gaG>gaT	p.E232D	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTTGGCAGAGAGGCTTAAGG	0.478																																						uc010qyq.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(694-696)gaG>gaT		Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.							235.0	202.0	213.0					11																	4929295		2201	4298	6499	SO:0001583	missense	119687				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4929295G>T	AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"""GPCR / Class A : Olfactory receptors"""	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.696G>T	11.37:g.4929295G>T	ENSP00000352305:p.Glu232Asp						p.E232D	NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	696	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	232					Q6IFH8	Missense_Mutation	SNP	ENST00000359350.4	37	c.696G>T	CCDS31364.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004987	0.35415	.	.	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	T	0.37058	1.22	4.87	-0.224	0.13115	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000214	T	0.46014	0.1371	M	0.63169	1.94	0.09310	N	1	P	0.52463	0.953	P	0.59643	0.861	T	0.35251	-0.9796	10	0.62326	D	0.03	.	7.6505	0.28346	0.4657:0.0:0.5343:0.0	.	232	Q8NH64	O51A7_HUMAN	D	232;232;221	ENSP00000352305:E232D	ENSP00000352305:E232D	E	+	3	2	OR51A7	4885871	0.000000	0.05858	0.673000	0.29887	0.298000	0.27526	-0.592000	0.05747	-0.207000	0.10187	0.655000	0.94253	GAG		0.478	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142175.1	NM_001004749	
OR52B6	340980	broad.mit.edu	37	11	5602633	5602633	+	Missense_Mutation	SNP	T	T	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:5602633T>A	ENST00000345043.2	+	1	527	c.527T>A	c.(526-528)tTt>tAt	p.F176Y	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCATTATGTTTCCATCCATC	0.498																																						uc010qzi.2																			0				endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12						c.(526-528)tTt>tAt		Homo sapiens olfactory receptor, family 52, subfamily B, member 6 (OR52B6), mRNA.							191.0	200.0	197.0					11																	5602633		2198	4297	6495	SO:0001583	missense	340980				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5602633T>A	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"""GPCR / Class A : Olfactory receptors"""	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.527T>A	11.37:g.5602633T>A	ENSP00000341581:p.Phe176Tyr					HBG1_uc001mak.1_Intron	p.F176Y	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	527	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	176					Q6IFI7	Missense_Mutation	SNP	ENST00000345043.2	37	c.527T>A	CCDS41611.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.112487	0.56398	.	.	ENSG00000187747	ENST00000345043	T	0.00107	8.72	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40640	U	0.001044	T	0.00552	0.0018	M	0.93328	3.405	0.09310	N	1	D	0.69078	0.997	D	0.66351	0.943	T	0.29941	-0.9995	10	0.59425	D	0.04	.	8.5678	0.33550	0.0:0.0862:0.0:0.9138	.	176	Q8NGF0	O52B6_HUMAN	Y	176	ENSP00000341581:F176Y	ENSP00000341581:F176Y	F	+	2	0	OR52B6	5559209	0.002000	0.14202	0.914000	0.36105	0.851000	0.48451	1.149000	0.31626	2.159000	0.67721	0.528000	0.53228	TTT		0.498	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	NM_001005162	
PIK3C2A	5286	broad.mit.edu	37	11	17111388	17111388	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:17111388C>T	ENST00000265970.7	-	32	4957	c.4958G>A	c.(4957-4959)cGg>cAg	p.R1653Q	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.R1273Q	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1653	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						AAAATTCTCCCGCAGAGATTC	0.413																																						uc001mmq.4																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(4957-4959)cGg>cAg		Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	Phosphatidylserine(DB00144)						177.0	191.0	187.0					11																	17111388		2200	4294	6494	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17111388C>T	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.4958G>A	11.37:g.17111388C>T	ENSP00000265970:p.Arg1653Gln					PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Missense_Mutation_p.R1273Q|PIK3C2A_uc001mmr.3_Intron	p.R1653Q	NM_002645	NP_002636	O00443	P3C2A_HUMAN			31	5023	-			1653			C2.		B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.4958G>A	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.068243	0.55539	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.08102	3.13;3.13	5.58	4.67	0.58626	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.15565	0.0375	N	0.21282	0.65	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.19257	-1.0311	10	0.19590	T	0.45	-5.8239	14.985	0.71342	0.0:0.9311:0.0:0.0689	.	1653	O00443	P3C2A_HUMAN	Q	1653;1273	ENSP00000265970:R1653Q;ENSP00000438687:R1273Q	ENSP00000265970:R1653Q	R	-	2	0	PIK3C2A	17067964	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.014000	0.70784	1.500000	0.48636	0.655000	0.94253	CGG		0.413	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645	
MS4A14	84689	broad.mit.edu	37	11	60184370	60184370	+	Silent	SNP	T	T	C			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:60184370T>C	ENST00000300187.6	+	5	2206	c.1929T>C	c.(1927-1929)gaT>gaC	p.D643D	MS4A14_ENST00000531787.1_Silent_p.D531D|MS4A14_ENST00000531783.1_Silent_p.D676D|MS4A14_ENST00000395005.2_Silent_p.D626D	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	643	Gln-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TATGCCAAGATTCAGAATCCC	0.473																																						uc001npj.3																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						c.(1927-1929)gaT>gaC		Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.							85.0	86.0	86.0					11																	60184370		2203	4300	6503	SO:0001819	synonymous_variant	84689					integral to membrane	receptor activity	g.chr11:60184370T>C	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1929T>C	11.37:g.60184370T>C						MS4A14_uc001npi.3_Silent_p.D531D|MS4A14_uc001npn.3_Silent_p.D381D|MS4A14_uc001npk.3_Silent_p.D626D|MS4A14_uc001npl.3_Silent_p.D381D|MS4A14_uc001npm.3_Silent_p.D381D	p.D643D	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			4	2494	+			643			Gln-rich.		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Silent	SNP	ENST00000300187.6	37	c.1929T>C	CCDS31569.1																																																																																				0.473	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2		
RBM4	5936	broad.mit.edu	37	11	66411465	66411465	+	Silent	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:66411465C>T	ENST00000409406.1	+	2	1734	c.957C>T	c.(955-957)ccC>ccT	p.P319P	RBM4_ENST00000530235.1_Intron|RBM4_ENST00000506523.2_Intron|RBM14-RBM4_ENST00000412278.2_Silent_p.P294P|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000408993.2_Silent_p.P319P|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Silent_p.P294P|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000310092.7_Silent_p.P319P|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000503028.2_Silent_p.P319P			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	319	Interaction with TNPO3.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		CCCCAGTCCCCACTGTTGGAG	0.622																																						uc009yrj.3																		RBM14/PACS1(2)	0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(955-957)ccC>ccT		Homo sapiens RNA binding motif protein 4 (RBM4), transcript variant 1, mRNA.							48.0	54.0	52.0					11																	66411465		2105	4240	6345	SO:0001819	synonymous_variant	5936				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity	g.chr11:66411465C>T	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.957C>T	11.37:g.66411465C>T						RBM14_uc009yrk.3_Silent_p.P294P|RBM14_uc021qmb.1_Intron|RBM14_uc001oiw.2_Silent_p.P319P|RBM14_uc001oix.2_Intron|RBM14_uc010rpj.2_Intron|RBM14_uc001oiz.2_Silent_p.P319P	p.P319P	NM_002896	NP_002887	Q96PK6	RBM14_HUMAN			2	1445	+			510			Ala-rich.|TRBP-interacting domain.		B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	Silent	SNP	ENST00000409406.1	37	c.957C>T	CCDS41676.1																																																																																				0.622	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	NM_002896	
POU2AF1	5450	broad.mit.edu	37	11	111229596	111229596	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:111229596C>T	ENST00000393067.3	-	2	578	c.64G>A	c.(64-66)Gtc>Atc	p.V22I		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	22					humoral immune response (GO:0006959)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		TTCACACGGACGCCCTGGTAT	0.647			T	BCL6	NHL																																	uc001plg.4				Dom	yes		11	11q23.1	5450	T	"""POU domain, class 2, associating factor 1 (OBF1)"""			L	BCL6		NHL		0				breast(1)|kidney(2)|lung(2)	5						c.(64-66)Gtc>Atc		Homo sapiens POU class 2 associating factor 1 (POU2AF1), mRNA.							65.0	55.0	58.0					11																	111229596		2201	4297	6498	SO:0001583	missense	5450				humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr11:111229596C>T		CCDS31675.1	11q23.1	2011-06-01	2007-07-13			ENSG00000110777			9211	protein-coding gene	gene with protein product		601206	"""POU domain class 2, associating factor 1"""			8617501	Standard	NM_006235		Approved	OBF1	uc001plg.4	Q16633		ENST00000393067.3:c.64G>A	11.37:g.111229596C>T	ENSP00000376786:p.Val22Ile						p.V22I	NM_006235	NP_006226	Q16633	OBF1_HUMAN		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)	1	319	-		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)	22					B2R8Z9|Q14983	Missense_Mutation	SNP	ENST00000393067.3	37	c.64G>A	CCDS31675.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910549	0.92107	.	.	ENSG00000110777	ENST00000393067;ENST00000531398	T;T	0.38722	1.12;1.12	5.0	5.0	0.66597	.	0.000000	0.64402	D	0.000004	T	0.64216	0.2578	M	0.65498	2.005	0.44395	D	0.997309	D	0.76494	0.999	D	0.79108	0.992	T	0.68326	-0.5438	10	0.87932	D	0	-2.6953	17.9036	0.88912	0.0:1.0:0.0:0.0	.	22	Q16633	OBF1_HUMAN	I	22;24	ENSP00000376786:V22I;ENSP00000433527:V24I	ENSP00000376786:V22I	V	-	1	0	POU2AF1	110734806	1.000000	0.71417	0.890000	0.34922	0.936000	0.57629	5.745000	0.68672	2.331000	0.79229	0.305000	0.20034	GTC		0.647	POU2AF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391002.1	NM_006235	
CD3E	916	broad.mit.edu	37	11	118183512	118183512	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:118183512T>C	ENST00000361763.4	+	6	574	c.283T>C	c.(283-285)Tat>Cat	p.Y95H	CD3E_ENST00000528600.1_Missense_Mutation_p.Y89H	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN	CD3e molecule, epsilon (CD3-TCR complex)	95	Ig-like.				apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of smoothened signaling pathway (GO:0045879)|negative thymic T cell selection (GO:0045060)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell anergy (GO:0002669)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)|regulation of immune response (GO:0050776)|response to nutrient (GO:0007584)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)|SH3 domain binding (GO:0017124)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	GCAAAGTGGTTATTATGTCTG	0.443																																						uc001psq.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8						c.(283-285)Tat>Cat		Homo sapiens CD3e molecule, epsilon (CD3-TCR complex) (CD3E), mRNA.	Muromonab(DB00075)						123.0	118.0	120.0					11																	118183512		2200	4296	6496	SO:0001583	missense	916				G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity	g.chr11:118183512T>C	X03884	CCDS31685.1	11q23	2014-09-17	2006-03-28		ENSG00000198851	ENSG00000198851		"""CD molecules"""	1674	protein-coding gene	gene with protein product		186830	"""CD3e antigen, epsilon polypeptide (TiT3 complex)"""				Standard	NM_000733		Approved		uc001psq.4	P07766	OTTHUMG00000166968	ENST00000361763.4:c.283T>C	11.37:g.118183512T>C	ENSP00000354566:p.Tyr95His					CD3E_uc010rya.2_Missense_Mutation_p.Y95H	p.Y95H	NM_000733	NP_000724	P07766	CD3E_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	5	539	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	95			Ig-like.		A8K997	Missense_Mutation	SNP	ENST00000361763.4	37	c.283T>C	CCDS31685.1	.	.	.	.	.	.	.	.	.	.	T	10.60	1.396008	0.25205	.	.	ENSG00000198851	ENST00000361763;ENST00000528600	T;T	0.21932	1.98;1.98	5.25	0.355	0.16069	Immunoglobulin subtype 2 (1);Immunoglobulin-like fold (1);	1.475880	0.03580	N	0.230018	T	0.19167	0.0460	L	0.43152	1.355	0.09310	N	1	P;B	0.44380	0.834;0.095	B;B	0.41666	0.363;0.034	T	0.17501	-1.0367	10	0.35671	T	0.21	.	4.1967	0.10447	0.0:0.2652:0.1695:0.5653	.	95;95	B4DVW0;P07766	.;CD3E_HUMAN	H	95;89	ENSP00000354566:Y95H;ENSP00000433975:Y89H	ENSP00000354566:Y95H	Y	+	1	0	CD3E	117688722	0.008000	0.16893	0.073000	0.20177	0.187000	0.23431	0.419000	0.21247	0.166000	0.19597	-0.313000	0.08912	TAT		0.443	CD3E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392120.1	NM_000733	
MFRP	83552	broad.mit.edu	37	11	119215663	119215663	+	Silent	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:119215663G>A	ENST00000530681.1	-	6	837	c.693C>T	c.(691-693)ctC>ctT	p.L231L	MFRP_ENST00000360167.4_Silent_p.L231L|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000555262.1_Silent_p.L231L|MFRP_ENST00000449574.2_Silent_p.L231L|MFRP_ENST00000529147.1_5'UTR	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	231	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		AGACCACCAGGAGGTGGCTGG	0.617																																						uc010rzg.1																			0				endometrium(1)|lung(2)	3						c.(691-693)ctC>ctT		Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.							34.0	26.0	29.0					11																	119215663		2197	4291	6488	SO:0001819	synonymous_variant	83552				embryo development	integral to membrane		g.chr11:119215663G>A	AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"""membrane-type frizzled-related protein"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 1"""	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.693C>T	11.37:g.119215663G>A						C1QTNF5_uc001pwj.2_5'UTR	p.L231L			Q9BY79	MFRP_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)	5	853	-		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	231			CUB 1.		B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Silent	SNP	ENST00000530681.1	37	c.693C>T	CCDS8421.1																																																																																				0.617	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1	NM_031433	
OR10G7	390265	broad.mit.edu	37	11	123909127	123909127	+	Silent	SNP	G	G	A	rs386758387|rs147011748	byFrequency	TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:123909127G>A	ENST00000330487.5	-	1	590	c.582C>T	c.(580-582)aaC>aaT	p.N194N		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N194N(1)|p.N194K(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		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;0.0521)		TGACCATCTCGTTGGCTGAGG	0.537																																						uc001pzq.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.N194N(2)|p.N194K(2)	large_intestine(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47						c.(580-582)aaC>aaT		Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.		G		0,4402		0,0,2201	252.0	234.0	240.0		582	-6.8	0.0	11	dbSNP_134	240	1,8597	1.2+/-3.3	0,1,4298	yes	coding-synonymous	OR10G7	NM_001004463.1		0,1,6499	AA,AG,GG		0.0116,0.0,0.0077		194/312	123909127	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123909127G>A	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.582C>T	11.37:g.123909127G>A							p.N194N	NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	0	582	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	194					Q6IFE8	Silent	SNP	ENST00000330487.5	37	c.582C>T	CCDS31705.1																																																																																				0.537	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463	
ACSM4	341392	broad.mit.edu	37	12	7456944	7456944	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr12:7456944G>A	ENST00000399422.4	+	1	65	c.17G>A	c.(16-18)cGc>cAc	p.R6H		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	6					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						ATTTTTTTCCGCTACCAGACA	0.468																																						uc001qsx.1																			0				endometrium(6)|kidney(1)|lung(14)	21						c.(16-18)cGc>cAc		Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.							146.0	140.0	142.0					12																	7456944		1881	4115	5996	SO:0001583	missense	341392				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr12:7456944G>A		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"""Acyl-CoA synthetase family"""	32016	protein-coding gene	gene with protein product	"""similar to olfactory specific medium-chain acyl CoA synthetase"""	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.17G>A	12.37:g.7456944G>A	ENSP00000382349:p.Arg6His						p.R6H	NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN			0	17	+			6					A8MTI6	Missense_Mutation	SNP	ENST00000399422.4	37	c.17G>A	CCDS44825.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.710651	0.30322	.	.	ENSG00000215009	ENST00000399422	T	0.47528	0.84	4.01	-3.53	0.04667	.	.	.	.	.	T	0.32704	0.0838	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.23190	-1.0195	9	0.34782	T	0.22	-12.2911	10.4873	0.44731	0.5549:0.0:0.4451:0.0	.	6	P0C7M7	ACSM4_HUMAN	H	6	ENSP00000382349:R6H	ENSP00000382349:R6H	R	+	2	0	ACSM4	7348211	0.000000	0.05858	0.000000	0.03702	0.360000	0.29518	-0.278000	0.08490	-0.653000	0.05401	-0.734000	0.03567	CGC		0.468	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454	
SLCO1B3	28234	broad.mit.edu	37	12	21036410	21036410	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr12:21036410C>T	ENST00000381545.3	+	13	1775	c.1556C>T	c.(1555-1557)gCa>gTa	p.A519V	SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.A519V|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.A519V|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.A519V	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	519					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	AATTACTCAGCACACTTGGGT	0.338																																						uc010sil.2																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(1555-1557)gCa>gTa		Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.							94.0	95.0	95.0					12																	21036410		2203	4300	6503	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21036410C>T		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.1556C>T	12.37:g.21036410C>T	ENSP00000370956:p.Ala519Val					SLCO1B3_uc001rek.3_Missense_Mutation_p.A519V|SLCO1B3_uc001rel.3_Missense_Mutation_p.A519V|SLCO1B3_uc010sim.2_Intron	p.A519V			Q9NPD5	SO1B3_HUMAN			10	1621	+	Esophageal squamous(101;0.149)		519					E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	c.1556C>T	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	.	11.71	1.718459	0.30503	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12	3.58	0.691	0.18045	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.355926	0.30859	N	0.008727	T	0.44329	0.1288	L	0.55213	1.73	0.09310	N	1	P;P;P	0.49185	0.913;0.92;0.698	B;P;P	0.54924	0.429;0.764;0.764	T	0.29058	-1.0024	10	0.30854	T	0.27	.	6.5545	0.22452	0.0:0.6673:0.0:0.3327	.	519;519;519	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	V	519;519;519;343;519	ENSP00000261196:A519V;ENSP00000370956:A519V;ENSP00000451758:A519V;ENSP00000443225:A343V;ENSP00000441269:A519V	ENSP00000441269:A519V	A	+	2	0	SLCO1B3;RP11-545J16.1	20927677	0.036000	0.19791	0.000000	0.03702	0.014000	0.08584	0.204000	0.17335	-0.053000	0.13289	0.313000	0.20887	GCA		0.338	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844	
ABCC9	10060	broad.mit.edu	37	12	21997448	21997448	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr12:21997448C>T	ENST00000261201.4	-	26	3283	c.3284G>A	c.(3283-3285)cGc>cAc	p.R1095H	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261200.4_Missense_Mutation_p.R1095H|ABCC9_ENST00000345162.2_Missense_Mutation_p.R1059H	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1095	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				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)			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)	AGCTGAAAAGCGATTGAGAAT	0.353																																						uc001rfh.3																			0				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						c.(3283-3285)cGc>cAc		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						104.0	111.0	109.0					12																	21997448		2203	4300	6503	SO:0001583	missense	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.chr12:21997448C>T	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.3284G>A	12.37:g.21997448C>T	ENSP00000261201:p.Arg1095His					ABCC9_uc001rfi.1_Missense_Mutation_p.R1095H	p.R1095H	NM_020297	NP_064693	O60706	ABCC9_HUMAN			25	3304	-			1095			ABC transmembrane type-1 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.3284G>A	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976649	0.92982	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2	5.05	5.05	0.67936	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98009	0.9344	H	0.97077	3.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99222	1.0879	10	0.87932	D	0	-9.942	18.6123	0.91290	0.0:1.0:0.0:0.0	.	1095;1095	O60706;O60706-2	ABCC9_HUMAN;.	H	1095;722;1095;1059	ENSP00000261200:R1095H;ENSP00000440521:R722H;ENSP00000261201:R1095H;ENSP00000261202:R1059H	ENSP00000261200:R1095H	R	-	2	0	ABCC9	21888715	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.183000	0.77697	2.634000	0.89283	0.650000	0.86243	CGC		0.353	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691	
STK38L	23012	broad.mit.edu	37	12	27467499	27467499	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr12:27467499A>G	ENST00000389032.3	+	7	749	c.580A>G	c.(580-582)Att>Gtt	p.I194V	STK38L_ENST00000539577.1_Missense_Mutation_p.I101V	NM_015000.3	NP_055815.1			serine/threonine kinase 38 like											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					ACAGTTCTACATTTCAGAGAC	0.378																																						uc001rhr.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						c.(580-582)Att>Gtt		Homo sapiens serine/threonine kinase 38 like (STK38L), mRNA.							118.0	106.0	110.0					12																	27467499		2203	4300	6503	SO:0001583	missense	23012				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:27467499A>G	AB023182	CCDS31761.1	12p11.23	2014-04-23			ENSG00000211455	ENSG00000211455			17848	protein-coding gene	gene with protein product	"""nuclear Dbf2-related 2"""	615836				16488889	Standard	NM_015000		Approved	KIAA0965, NDR2	uc001rhr.3	Q9Y2H1	OTTHUMG00000169284	ENST00000389032.3:c.580A>G	12.37:g.27467499A>G	ENSP00000373684:p.Ile194Val					STK38L_uc010sjm.2_Missense_Mutation_p.I101V|STK38L_uc010sjn.2_5'UTR	p.I194V	NM_015000	NP_055815	Q9Y2H1	ST38L_HUMAN			6	779	+	Colorectal(261;0.0847)		194			Protein kinase.			Missense_Mutation	SNP	ENST00000389032.3	37	c.580A>G	CCDS31761.1	.	.	.	.	.	.	.	.	.	.	A	15.45	2.836321	0.50951	.	.	ENSG00000211455	ENST00000389032;ENST00000545470;ENST00000539577	T;T;T	0.64618	-0.11;-0.11;-0.11	4.74	4.74	0.60224	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.053228	0.64402	N	0.000001	T	0.54565	0.1866	L	0.28608	0.87	0.80722	D	1	B;B	0.24368	0.102;0.06	B;B	0.34385	0.116;0.181	T	0.52764	-0.8532	10	0.33940	T	0.23	.	14.6964	0.69124	1.0:0.0:0.0:0.0	.	101;194	B4E3J8;Q9Y2H1	.;ST38L_HUMAN	V	194;153;101	ENSP00000373684:I194V;ENSP00000439457:I153V;ENSP00000446386:I101V	ENSP00000373684:I194V	I	+	1	0	STK38L	27358766	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.999000	0.63934	2.121000	0.65114	0.460000	0.39030	ATT		0.378	STK38L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403297.1	NM_015000	
CACNB3	784	broad.mit.edu	37	12	49218455	49218455	+	Silent	SNP	A	A	G			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr12:49218455A>G	ENST00000301050.2	+	5	610	c.411A>G	c.(409-411)agA>agG	p.R137R	CACNB3_ENST00000547392.1_Silent_p.R137R|CACNB3_ENST00000550168.1_3'UTR|CACNB3_ENST00000540990.1_Silent_p.R124R|CACNB3_ENST00000547230.1_Silent_p.R96R|CACNB3_ENST00000536187.2_Silent_p.R136R	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	137					axon guidance (GO:0007411)|calcium ion transport (GO:0006816)|membrane depolarization (GO:0051899)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|membrane (GO:0016020)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TTCTCAGGAGATCTGGGAACC	0.483																																						uc001rsl.2																			0				autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12						c.(409-411)agA>agG		Homo sapiens calcium channel, voltage-dependent, beta 3 subunit (CACNB3), transcript variant 1, mRNA.	Verapamil(DB00661)						48.0	50.0	49.0					12																	49218455		2203	4300	6503	SO:0001819	synonymous_variant	784				axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr12:49218455A>G		CCDS8769.1, CCDS55821.1, CCDS55822.1, CCDS55823.1	12q13	2008-05-02				ENSG00000167535		"""Calcium channel subunits"""	1403	protein-coding gene	gene with protein product		601958		CACNLB3		8119293	Standard	NM_000725		Approved		uc010sly.2	P54284		ENST00000301050.2:c.411A>G	12.37:g.49218455A>G						CACNB3_uc010slx.2_Silent_p.R124R|CACNB3_uc010sly.2_Silent_p.R124R|CACNB3_uc010slz.2_Silent_p.R136R|CACNB3_uc001rsk.2_5'UTR|CACNB3_uc021qxm.1_Silent_p.R96R	p.R137R	NM_000725	NP_000716	P54284	CACB3_HUMAN			4	870	+			137					A8K0Z4|B7Z4Q1|B7Z973|B7ZAK8|F5GZW7|F5H2P6|F8VSG3|Q13913	Silent	SNP	ENST00000301050.2	37	c.411A>G	CCDS8769.1																																																																																				0.483	CACNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408886.1		
RNF17	56163	broad.mit.edu	37	13	25444863	25444863	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr13:25444863C>T	ENST00000255324.5	+	32	4485	c.4433C>T	c.(4432-4434)aCg>aTg	p.T1478M	RNF17_ENST00000381921.1_Missense_Mutation_p.T1436M|RNF17_ENST00000339524.3_Missense_Mutation_p.T488M	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1478					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CCTCCTCTGACGGATTTTAGA	0.423																																						uc001upr.3																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(4432-4434)aCg>aTg		Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.							70.0	63.0	66.0					13																	25444863		2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25444863C>T	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.4433C>T	13.37:g.25444863C>T	ENSP00000255324:p.Thr1478Met					RNF17_uc010tde.2_Missense_Mutation_p.T1474M|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.T1417M|RNF17_uc010aac.3_Missense_Mutation_p.T670M|RNF17_uc010aad.3_Missense_Mutation_p.T488M	p.T1478M	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	31	4474	+		Lung SC(185;0.0225)|Breast(139;0.077)	1478					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.4433C>T	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090489	0.36855	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000418120;ENST00000339524	T;T;T;T	0.10192	2.9;2.9;2.9;2.9	5.79	4.96	0.65561	Maternal tudor protein (1);Tudor domain (1);	0.000000	0.64402	D	0.000011	T	0.31765	0.0807	M	0.74647	2.275	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.978;1.0	D;D;B;D	0.97110	1.0;0.992;0.395;0.999	T	0.03166	-1.1065	10	0.54805	T	0.06	-8.2994	12.0699	0.53609	0.0:0.9194:0.0:0.0806	.	1474;488;1472;1478	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	M	1478;1436;802;488	ENSP00000255324:T1478M;ENSP00000371346:T1436M;ENSP00000388892:T802M;ENSP00000344776:T488M	ENSP00000255324:T1478M	T	+	2	0	RNF17	24342863	1.000000	0.71417	0.988000	0.46212	0.079000	0.17450	4.654000	0.61469	1.443000	0.47586	-0.229000	0.12294	ACG		0.423	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994	
PCDH20	64881	broad.mit.edu	37	13	61985634	61985634	+	Silent	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr13:61985634C>T	ENST00000409186.1	-	5	4703	c.2598G>A	c.(2596-2598)gaG>gaA	p.E866E	PCDH20_ENST00000409204.4_Silent_p.E866E			Q8N6Y1	PCD20_HUMAN	protocadherin 20	866					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GTTCTTTCTCCTCTATATTAA	0.393																																						uc001vid.4																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(2596-2598)gaG>gaA		Homo sapiens protocadherin 20 (PCDH20), mRNA.							78.0	72.0	74.0					13																	61985634		2203	4300	6503	SO:0001819	synonymous_variant	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61985634C>T	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.2598G>A	13.37:g.61985634C>T						PCDH20_uc010thj.2_Silent_p.E866E	p.E866E	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	1	2962	-		Breast(118;0.195)|Prostate(109;0.229)	839					A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Silent	SNP	ENST00000409186.1	37	c.2598G>A	CCDS9442.2																																																																																				0.393	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843	
OR4K17	390436	broad.mit.edu	37	14	20586156	20586156	+	Silent	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr14:20586156G>A	ENST00000315543.4	+	1	591	c.591G>A	c.(589-591)ttG>ttA	p.L197L		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CTGTGAACTTGCCCTTTTGTG	0.428																																						uc001vwo.1																			0				kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21						c.(589-591)ttG>ttA		Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.							278.0	241.0	254.0					14																	20586156		2203	4300	6503	SO:0001819	synonymous_variant	390436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20586156G>A		CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"""GPCR / Class A : Olfactory receptors"""	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.591G>A	14.37:g.20586156G>A							p.L197L	NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)	0	591	+	all_cancers(95;0.00108)		169					Q6IF12	Silent	SNP	ENST00000315543.4	37	c.591G>A	CCDS32030.1																																																																																				0.428	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1		
CLEC14A	161198	broad.mit.edu	37	14	38724256	38724256	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr14:38724256G>T	ENST00000342213.2	-	1	1318	c.972C>A	c.(970-972)gaC>gaA	p.D324E		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	324						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CCAGCTTCTCGTCGACCCTGA	0.602																																						uc001wum.1																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(970-972)gaC>gaA		Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.							87.0	80.0	82.0					14																	38724256		2203	4300	6503	SO:0001583	missense	161198					integral to membrane	sugar binding	g.chr14:38724256G>T		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.972C>A	14.37:g.38724256G>T	ENSP00000353013:p.Asp324Glu						p.D324E	NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	0	1319	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		324					Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	c.972C>A	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	G	1.503	-0.551663	0.03996	.	.	ENSG00000176435	ENST00000342213;ENST00000546356	T	0.73363	-0.74	4.07	-7.76	0.01232	.	3.061260	0.01207	N	0.007759	T	0.52240	0.1722	N	0.14661	0.345	0.09310	N	1	B	0.19817	0.039	B	0.15484	0.013	T	0.41288	-0.9517	10	0.42905	T	0.14	1.3618	4.7517	0.13064	0.1858:0.1413:0.5492:0.1236	.	324	Q86T13	CLC14_HUMAN	E	324;89	ENSP00000353013:D324E	ENSP00000353013:D324E	D	-	3	2	CLEC14A	37794007	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.639000	0.02011	-1.582000	0.01640	0.591000	0.81541	GAC		0.602	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060	
PLEKHG3	26030	broad.mit.edu	37	14	65208951	65208951	+	Missense_Mutation	SNP	C	C	G	rs150120531		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr14:65208951C>G	ENST00000394691.1	+	16	2863	c.2716C>G	c.(2716-2718)Cgc>Ggc	p.R906G	PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.R439G|PLEKHG3_ENST00000247226.7_Missense_Mutation_p.R850G|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.R411G			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	906							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		ACTGCACCCCCGCATCGTGCA	0.662																																						uc001xhp.2																			0		p.P1027Q(1)		endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29						c.(3079-3081)Cgc>Ggc		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA.							37.0	43.0	41.0					14																	65208951		2203	4300	6503	SO:0001583	missense	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65208951C>G	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.2716C>G	14.37:g.65208951C>G	ENSP00000378183:p.Arg906Gly					PLEKHG3_uc001xhn.1_Missense_Mutation_p.R850G|PLEKHG3_uc001xho.1_Missense_Mutation_p.R906G|PLEKHG3_uc010aqh.1_Missense_Mutation_p.R448G|PLEKHG3_uc001xhq.1_Missense_Mutation_p.R411G	p.R1027G	NM_015549	NP_056364	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	15	3118	+			906					A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37	c.3079C>G		.	.	.	.	.	.	.	.	.	.	C	16.51	3.142961	0.57044	.	.	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	T;T;T;T	0.66995	0.2;-0.24;1.11;1.12	6.17	4.36	0.52297	.	0.380719	0.25807	N	0.028179	T	0.68769	0.3037	M	0.66939	2.045	0.09310	N	1	P;P;P;P	0.51240	0.943;0.943;0.858;0.913	P;P;B;P	0.50314	0.535;0.535;0.433;0.637	T	0.62817	-0.6774	10	0.56958	D	0.05	.	7.0952	0.25305	0.1394:0.7168:0.0:0.1438	.	439;411;906;850	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	G	850;906;439;411	ENSP00000247226:R850G;ENSP00000378183:R906G;ENSP00000450945:R439G;ENSP00000450973:R411G	ENSP00000247226:R850G	R	+	1	0	PLEKHG3	64278704	0.001000	0.12720	1.000000	0.80357	0.998000	0.95712	-0.074000	0.11450	0.935000	0.37341	0.655000	0.94253	CGC		0.662	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549	
AK7	122481	broad.mit.edu	37	14	96864516	96864516	+	Missense_Mutation	SNP	A	A	T	rs17853407		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr14:96864516A>T	ENST00000267584.4	+	2	254	c.210A>T	c.(208-210)aaA>aaT	p.K70N	AK7_ENST00000555570.1_Missense_Mutation_p.K70N	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	70					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CCTCAACCAAAGTGAAGGAAG	0.507																																						uc001yfn.2																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(208-210)aaA>aaT		Homo sapiens adenylate kinase 7 (AK7), mRNA.							118.0	107.0	111.0					14																	96864516		2203	4300	6503	SO:0001583	missense	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96864516A>T	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.210A>T	14.37:g.96864516A>T	ENSP00000267584:p.Lys70Asn					AK7_uc001yfm.1_Missense_Mutation_p.K70N	p.K70N	NM_152327	NP_689540	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	1	254	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	70					Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	c.210A>T	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	A	19.93	3.917592	0.73098	.	.	ENSG00000140057	ENST00000267584;ENST00000555570	T	0.57273	0.41	5.35	-5.36	0.02689	.	0.470134	0.23219	N	0.050590	T	0.59542	0.2201	M	0.62723	1.935	0.09310	N	1	P;D	0.71674	0.565;0.998	B;D	0.66979	0.135;0.948	T	0.58031	-0.7708	10	0.56958	D	0.05	-18.885	10.3324	0.43831	0.3997:0.1013:0.4989:0.0	.	70;70	Q96M32;G3V365	KAD7_HUMAN;.	N	70	ENSP00000267584:K70N	ENSP00000267584:K70N	K	+	3	2	AK7	95934269	0.020000	0.18652	0.002000	0.10522	0.508000	0.34012	0.002000	0.13061	-0.934000	0.03733	0.402000	0.26972	AAA		0.507	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1		
JAG2	3714	broad.mit.edu	37	14	105609273	105609273	+	Missense_Mutation	SNP	C	C	T	rs200736888	byFrequency	TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr14:105609273C>T	ENST00000331782.3	-	26	3879	c.3476G>A	c.(3475-3477)cGc>cAc	p.R1159H	JAG2_ENST00000347004.2_Missense_Mutation_p.R1121H	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1159					auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		gtccgccctgcgcggcggcgg	0.721													C|||	2	0.000399361	0.0008	0.0	5008	,	,		9916	0.0		0.0	False		,,,				2504	0.001					uc001yqg.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(3475-3477)cGc>cAc		Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG	0,4354		0,0,2177	12.0	14.0	13.0		3476,3362	1.2	0.9	14		13	6,8484		0,6,4239	yes	missense,missense	JAG2	NM_002226.3,NM_145159.1	29,29	0,6,6416	TT,TC,CC		0.0707,0.0,0.0467	benign,benign	1159/1239,1121/1201	105609273	6,12838	2177	4245	6422	SO:0001583	missense	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105609273C>T	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.3476G>A	14.37:g.105609273C>T	ENSP00000328169:p.Arg1159His					JAG2_uc001yqf.3_Missense_Mutation_p.R563H|JAG2_uc001yqh.3_Missense_Mutation_p.R1121H	p.R1159H	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	25	3880	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	1159					Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	c.3476G>A	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	C	6.313	0.425762	0.11987	0.0	7.07E-4	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.86432	-2.12;-2.12	4.61	1.22	0.21188	.	0.810877	0.11082	N	0.601761	T	0.75376	0.3841	N	0.16478	0.41	0.09310	N	1	B;B	0.13594	0.008;0.006	B;B	0.04013	0.001;0.001	T	0.64110	-0.6484	10	0.56958	D	0.05	.	6.9449	0.24512	0.0:0.4991:0.0:0.5009	.	1121;1159	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	H	1159;1121	ENSP00000328169:R1159H;ENSP00000328566:R1121H	ENSP00000328169:R1159H	R	-	2	0	JAG2	104680318	0.024000	0.19004	0.912000	0.35992	0.031000	0.12232	0.640000	0.24705	0.385000	0.24970	-0.424000	0.05967	CGC		0.721	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2		
PIF1	80119	broad.mit.edu	37	15	65110455	65110455	+	Splice_Site	DEL	C	C	-			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr15:65110455delC	ENST00000268043.4	-	10	1623		c.e10+1		PIF1_ENST00000333425.6_Splice_Site|PIF1_ENST00000559239.1_Splice_Site					PIF1 5'-to-3' DNA helicase											kidney(1)|lung(1)	2						CCAACACTTACCTCTCCCTTC	0.582																																						uc002ant.2																			0				kidney(1)|lung(1)	2						c.e10+1		Homo sapiens PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) (PIF1), mRNA.							163.0	128.0	140.0					15																	65110455		2202	4299	6501	SO:0001630	splice_region_variant	80119				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding	g.chr15:65110455delC	AK026345	CCDS10195.2, CCDS66797.1	15q22.1	2013-05-13	2013-05-13	2006-11-24	ENSG00000140451	ENSG00000140451	3.6.4.12		26220	protein-coding gene	gene with protein product		610953	"""chromosome 15 open reading frame 20"", ""PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)"""	C15orf20		10926538, 16522649	Standard	NM_025049		Approved	FLJ22692	uc002ant.2	Q9H611	OTTHUMG00000132974	ENST00000268043.4:c.1528+1G>-	15.37:g.65110455delC						PIF1_uc002anr.2_Splice_Site_p.G58_splice|PIF1_uc002ans.2_Splice_Site_p.G201_splice|PIF1_uc010uiq.1_Splice_Site_p.G510_splice	p.G510_splice	NM_025049	NP_079325	Q9H611	PIF1_HUMAN			10	1594	-			510			Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.			Splice_Site	DEL	ENST00000268043.4	37	c.1528_splice	CCDS10195.2																																																																																				0.582	PIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256533.1	NM_025049	Intron
LRRK1	79705	broad.mit.edu	37	15	101595366	101595366	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr15:101595366G>A	ENST00000388948.3	+	27	4629	c.4270G>A	c.(4270-4272)Gtg>Atg	p.V1424M	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Missense_Mutation_p.V1421M	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CGCCCTAGGCGTGGAGGGCAC	0.567																																						uc002bwr.3																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(4270-4272)Gtg>Atg		Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.							67.0	68.0	67.0					15																	101595366		2014	4168	6182	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101595366G>A	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.4270G>A	15.37:g.101595366G>A	ENSP00000373600:p.Val1424Met					LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_Non-coding_Transcript	p.V1424M	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		26	4589	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1424			Protein kinase.			Missense_Mutation	SNP	ENST00000388948.3	37	c.4270G>A	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.834290	0.71373	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762	T;T	0.67171	-0.25;-0.25	4.78	4.78	0.61160	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70386	0.3218	N	0.16233	0.39	0.45378	D	0.998369	D	0.89917	1.0	D	0.74348	0.983	T	0.74269	-0.3720	10	0.48119	T	0.1	.	18.1639	0.89718	0.0:0.0:1.0:0.0	.	1424	Q38SD2	LRRK1_HUMAN	M	1424;1421;115	ENSP00000373600:V1424M;ENSP00000284395:V1421M	ENSP00000284395:V1421M	V	+	1	0	LRRK1	99412889	1.000000	0.71417	0.977000	0.42913	0.839000	0.47603	7.541000	0.82084	2.347000	0.79759	0.591000	0.81541	GTG		0.567	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652	
APOBR	55911	broad.mit.edu	37	16	28507939	28507939	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr16:28507939C>T	ENST00000431282.1	+	3	1560	c.1550C>T	c.(1549-1551)gCc>gTc	p.A517V	APOBR_ENST00000564831.1_Missense_Mutation_p.A526V|CLN3_ENST00000567160.1_5'Flank|APOBR_ENST00000328423.5_Missense_Mutation_p.A517V|CLN3_ENST00000569430.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	517	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						ACTCCAGAGGCCAGGCCTGAG	0.652																																						uc002dqb.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						c.(1576-1578)gCc>gTc		Homo sapiens apolipoprotein B receptor (APOBR), mRNA.							15.0	18.0	17.0					16																	28507939		2072	4198	6270	SO:0001583	missense	55911				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		g.chr16:28507939C>T	AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.1550C>T	16.37:g.28507939C>T	ENSP00000416094:p.Ala517Val					NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_Missense_Mutation_p.A55V	p.A526V	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN			1	1610	+			517			Glu-rich.		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	ENST00000431282.1	37	c.1577C>T		.	.	.	.	.	.	.	.	.	.	C	13.87	2.366089	0.41902	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.70986	-0.53;-0.53	4.92	-0.242	0.13039	.	.	.	.	.	T	0.50667	0.1629	N	0.20986	0.625	0.09310	N	1	P;P	0.37101	0.582;0.582	B;B	0.36464	0.225;0.188	T	0.40942	-0.9536	9	0.40728	T	0.16	0.0148	4.5446	0.12074	0.1546:0.523:0.0:0.3224	.	517;517	Q0VD83;Q9NS13	APOBR_HUMAN;.	V	517	ENSP00000327669:A517V;ENSP00000416094:A517V	ENSP00000327669:A517V	A	+	2	0	APOBR	28415440	0.001000	0.12720	0.042000	0.18584	0.180000	0.23129	0.068000	0.14531	0.471000	0.27319	-0.144000	0.13903	GCC		0.652	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804	
SLC5A2	6524	broad.mit.edu	37	16	31500623	31500623	+	Silent	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr16:31500623G>A	ENST00000330498.3	+	12	1648	c.1629G>A	c.(1627-1629)acG>acA	p.T543T	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	543					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	TCACCCTCACGGTCTCCCTGT	0.637																																						uc002ecf.4																			0		p.L542F(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(1627-1629)acG>acA		Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA.							115.0	67.0	83.0					16																	31500623		2197	4300	6497	SO:0001819	synonymous_variant	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31500623G>A		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1629G>A	16.37:g.31500623G>A						SLC5A2_uc010car.3_Non-coding_Transcript|C16orf58_uc002ecg.3_Non-coding_Transcript	p.T543T	NM_003041	NP_003032	P31639	SC5A2_HUMAN			11	1648	+			543					A2RRD2	Silent	SNP	ENST00000330498.3	37	c.1629G>A	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	G	1.725	-0.495726	0.04291	.	.	ENSG00000140675	ENST00000419665	D	0.87571	-2.27	5.02	-10.0	0.00425	.	.	.	.	.	D	0.84279	0.5437	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.81059	-0.1104	6	0.87932	D	0	.	10.0756	0.42358	0.0777:0.5438:0.2459:0.1325	.	.	.	.	S	437	ENSP00000410601:G437S	ENSP00000410601:G437S	G	+	1	0	SLC5A2	31408124	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-11.194000	0.00004	-4.842000	0.00030	-1.172000	0.01736	GGT		0.637	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2		
NOL3	8996	broad.mit.edu	37	16	67208819	67208819	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr16:67208819C>T	ENST00000568146.1	+	3	634	c.581C>T	c.(580-582)cCg>cTg	p.P194L	KIAA0895L_ENST00000563831.2_5'Flank|NOL3_ENST00000268605.7_Silent_p.P197P|NOL3_ENST00000564053.1_Silent_p.P259P|NOL3_ENST00000432069.2_Silent_p.P197P			O60936	NOL3_HUMAN	nucleolar protein 3 (apoptosis repressor with CARD domain)	194					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		agcccgagcccgacttcgaGG	0.672																																						uc010vjd.2																			0				ovary(1)	1						c.(580-582)cCg>cTg		Homo sapiens nucleolar protein 3 (apoptosis repressor with CARD domain) (NOL3), transcript variant 3, mRNA.							34.0	45.0	41.0					16																	67208819		2054	4220	6274	SO:0001583	missense	8996				anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding	g.chr16:67208819C>T	AF043244	CCDS42176.1, CCDS58473.1, CCDS61960.1	16q22.1	2008-08-27				ENSG00000140939			7869	protein-coding gene	gene with protein product		605235				9560245	Standard	NM_001276312		Approved	ARC, NOP30, MYP, CARD2	uc010vjd.3	O60936		ENST00000568146.1:c.581C>T	16.37:g.67208819C>T	ENSP00000454598:p.Pro194Leu					NOL3_uc010vjc.2_Silent_p.P197P|NOL3_uc002erp.3_Silent_p.P197P	p.P194L	NM_001185057	NP_001171986	O60936	NOL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	2	774	+		Ovarian(137;0.192)	194					B4DFL0|O60937	Missense_Mutation	SNP	ENST00000568146.1	37	c.581C>T	CCDS58473.1																																																																																				0.672	NOL3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422746.1		
FOXL1	2300	broad.mit.edu	37	16	86613224	86613224	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr16:86613224G>A	ENST00000320241.3	+	1	1110	c.895G>A	c.(895-897)Gcc>Acc	p.A299T		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	299					heart development (GO:0007507)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|Peyer's patch morphogenesis (GO:0061146)|proteoglycan biosynthetic process (GO:0030166)|regulation of Wnt signaling pathway (GO:0030111)|transcription, DNA-templated (GO:0006351)|visceral mesoderm-endoderm interaction involved in midgut development (GO:0007495)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						CTCGCTCCTGGCCGCCTCCTC	0.672																																					NSCLC(163;308 2020 10889 11476 18208)	uc002fjr.3																			0				central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						c.(895-897)Gcc>Acc		Homo sapiens forkhead box L1 (FOXL1), mRNA.							21.0	24.0	23.0					16																	86613224		2198	4300	6498	SO:0001583	missense	2300				brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr16:86613224G>A	AF315075	CCDS10959.1	16q24	2014-07-15			ENSG00000176678	ENSG00000176678		"""Forkhead boxes"""	3817	protein-coding gene	gene with protein product		603252		FKHL11		7957066	Standard	NM_005250		Approved	FREAC7, FKH6	uc002fjr.3	Q12952	OTTHUMG00000137653	ENST00000320241.3:c.895G>A	16.37:g.86613224G>A	ENSP00000326272:p.Ala299Thr						p.A299T	NM_005250	NP_005241	Q12952	FOXL1_HUMAN			0	1110	+			299					Q17RR1|Q9H242	Missense_Mutation	SNP	ENST00000320241.3	37	c.895G>A	CCDS10959.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276193	0.59649	.	.	ENSG00000176678	ENST00000320241	D	0.94046	-3.34	4.92	4.92	0.64577	.	1.163160	0.06391	U	0.717175	D	0.92721	0.7686	N	0.19112	0.55	0.26339	N	0.977393	D	0.63880	0.993	P	0.55508	0.777	D	0.85090	0.0951	10	0.19590	T	0.45	.	16.7292	0.85431	0.0:0.0:1.0:0.0	.	299	Q12952	FOXL1_HUMAN	T	299	ENSP00000326272:A299T	ENSP00000326272:A299T	A	+	1	0	FOXL1	85170725	0.960000	0.32886	1.000000	0.80357	0.750000	0.42670	2.754000	0.47532	2.276000	0.75962	0.555000	0.69702	GCC		0.672	FOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269105.2	NM_005250	
TRPV1	7442	broad.mit.edu	37	17	3493599	3493599	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr17:3493599G>A	ENST00000571088.1	-	5	905	c.692C>T	c.(691-693)gCg>gTg	p.A231V	TRPV1_ENST00000174621.6_Missense_Mutation_p.A229V|SHPK_ENST00000572705.1_Missense_Mutation_p.A231V|TRPV1_ENST00000576351.1_Missense_Mutation_p.A231V|TRPV1_ENST00000310522.5_Missense_Mutation_p.A231V|TRPV1_ENST00000425167.2_Missense_Mutation_p.A231V|TRPV1_ENST00000399759.3_Missense_Mutation_p.A231V|TRPV1_ENST00000399756.4_Missense_Mutation_p.A231V	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	231					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CCCATGGGCCGCAGCCTGGAC	0.572																																					Melanoma(38;962 1762 15789)	uc010vro.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(691-693)gCg>gTg		Homo sapiens transient receptor potential cation channel, subfamily V, member 1 (TRPV1), transcript variant 3, mRNA.	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)						70.0	77.0	75.0					17																	3493599		2091	4219	6310	SO:0001583	missense	7442				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding	g.chr17:3493599G>A	AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12716	protein-coding gene	gene with protein product		602076	"""vanilloid receptor subtype 1"""	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.692C>T	17.37:g.3493599G>A	ENSP00000461007:p.Ala231Val					TRPV1_uc010vrp.2_Missense_Mutation_p.A231V|TRPV1_uc010vrq.2_Missense_Mutation_p.A229V|TRPV1_uc010vrr.2_Missense_Mutation_p.A231V|TRPV1_uc010vrs.2_Missense_Mutation_p.A231V|TRPV1_uc010vrt.2_Missense_Mutation_p.A231V|TRPV1_uc010vru.2_Missense_Mutation_p.A231V	p.A231V	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN		Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	3	725	-			231					A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Missense_Mutation	SNP	ENST00000571088.1	37	c.692C>T	CCDS45576.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.122874	0.37436	.	.	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000174621;ENST00000425167;ENST00000310522	D;D;D;D;D	0.89810	-2.43;-2.43;-2.57;-2.43;-2.42	5.12	5.12	0.69794	Ankyrin repeat-containing domain (4);	0.211187	0.48767	D	0.000172	D	0.85401	0.5688	N	0.11000	0.08	0.25493	N	0.987621	D;D;D;D	0.76494	0.971;0.993;0.993;0.999	B;B;P;P	0.55824	0.21;0.316;0.52;0.785	T	0.79676	-0.1704	10	0.59425	D	0.04	-7.2664	13.0868	0.59146	0.0:0.2704:0.7296:0.0	.	231;229;231;231	Q8NER1;E7EQ80;E7ESJ2;E7EQ78	TRPV1_HUMAN;.;.;.	V	231;231;229;231;231	ENSP00000382661:A231V;ENSP00000382659:A231V;ENSP00000174621:A229V;ENSP00000409627:A231V;ENSP00000311692:A231V	ENSP00000174621:A229V	A	-	2	0	TRPV1	3440348	0.224000	0.23674	0.877000	0.34402	0.273000	0.26683	2.251000	0.43187	2.555000	0.86185	0.467000	0.42956	GCG		0.572	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727	
KRTAP4-11	653240	broad.mit.edu	37	17	39274424	39274424	+	Missense_Mutation	SNP	G	G	C			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr17:39274424G>C	ENST00000391413.2	-	1	182	c.144C>G	c.(142-144)agC>agG	p.S48R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	48	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.S48R(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCCTGCAGCAGCTGGACACAC	0.672																																						uc002hvz.3																			2	Substitution - Missense(2)	p.S48R(4)	lung(1)|endometrium(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(142-144)agC>agG		Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.							11.0	16.0	14.0					17																	39274424		687	1589	2276	SO:0001583	missense	653240					keratin filament		g.chr17:39274424G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.144C>G	17.37:g.39274424G>C	ENSP00000375232:p.Ser48Arg						p.S48R	NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		0	183	-		Breast(137;0.000496)	48		Missing (in allele KAP4.14).	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.144C>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	13.52	2.262143	0.39995	.	.	ENSG00000212721	ENST00000391413	T	0.01963	4.53	3.91	3.91	0.45181	.	0.663392	0.11138	N	0.595595	T	0.06826	0.0174	M	0.91717	3.235	0.27842	N	0.941075	B	0.21606	0.058	B	0.25614	0.062	T	0.08310	-1.0728	10	0.66056	D	0.02	.	7.305	0.26443	0.1194:0.0:0.8806:0.0	.	48	Q9BYQ6	KR411_HUMAN	R	48	ENSP00000375232:S48R	ENSP00000375232:S48R	S	-	3	2	KRTAP4-11	36527950	0.739000	0.28196	0.990000	0.47175	0.119000	0.20118	0.787000	0.26858	2.015000	0.59207	0.609000	0.83330	AGC		0.672	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1		
POTEC	388468	broad.mit.edu	37	18	14542809	14542809	+	Missense_Mutation	SNP	C	C	T	rs113041483		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr18:14542809C>T	ENST00000358970.5	-	1	336	c.337G>A	c.(337-339)Ggc>Agc	p.G113S	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	113										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTGCTCTTGCCGCTCCCCCTG	0.597																																						uc010dln.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(337-339)Ggc>Agc		Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.							35.0	45.0	42.0					18																	14542809		692	1590	2282	SO:0001583	missense	388468							g.chr18:14542809C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.337G>A	18.37:g.14542809C>T	ENSP00000351856:p.Gly113Ser					POTEC_uc010xaj.2_Non-coding_Transcript	p.G113S	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			0	791	-			113						Missense_Mutation	SNP	ENST00000358970.5	37	c.337G>A	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	C	6.547	0.469204	0.12461	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.30714	1.52	0.15	0.15	0.14883	.	.	.	.	.	T	0.22003	0.0530	L	0.50333	1.59	0.09310	N	1	B	0.27192	0.171	B	0.14023	0.01	T	0.19095	-1.0316	8	0.26408	T	0.33	.	.	.	.	.	113	B2RU33	POTEC_HUMAN	S	113	ENSP00000351856:G113S	ENSP00000351856:G113S	G	-	1	0	POTEC	14532809	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.371000	0.07513	0.194000	0.20326	0.197000	0.17608	GGC		0.597	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269	
ABCA7	10347	broad.mit.edu	37	19	1056425	1056425	+	Missense_Mutation	SNP	C	C	T	rs574184010	byFrequency	TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr19:1056425C>T	ENST00000263094.6	+	33	4744	c.4513C>T	c.(4513-4515)Cgc>Tgc	p.R1505C	ABCA7_ENST00000435683.2_Missense_Mutation_p.R1367C|ABCA7_ENST00000433129.1_Missense_Mutation_p.R1505C	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1505					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGCCCGGCCCGCCACGCCCA	0.612													C|||	7	0.00139776	0.0	0.0014	5008	,	,		16838	0.001		0.0	False		,,,				2504	0.0051					uc002lqw.4																			0		p.A1504V(1)|p.R1505L(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(4513-4515)Cgc>Tgc		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.							121.0	103.0	109.0					19																	1056425		2203	4300	6503	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1056425C>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.4513C>T	19.37:g.1056425C>T	ENSP00000263094:p.Arg1505Cys					ABCA7_uc002lqy.3_5'Flank|ABCA7_uc010dsc.3_5'Flank	p.R1505C	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	32	4744	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	1505					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.4513C>T	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	C	9.479	1.097752	0.20552	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.86769	-2.17;-2.17	3.76	1.5	0.22942	.	.	.	.	.	D	0.86121	0.5857	L	0.31065	0.9	0.09310	N	0.999999	D	0.62365	0.991	P	0.56788	0.806	T	0.76961	-0.2765	9	0.66056	D	0.02	.	10.7548	0.46230	0.3721:0.6279:0.0:0.0	.	1505	Q8IZY2	ABCA7_HUMAN	C	1505	ENSP00000263094:R1505C;ENSP00000414062:R1505C	ENSP00000263094:R1505C	R	+	1	0	ABCA7	1007425	0.001000	0.12720	0.031000	0.17742	0.029000	0.11900	0.927000	0.28818	0.224000	0.20940	-0.410000	0.06199	CGC		0.612	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112	
EMR1	2015	broad.mit.edu	37	19	6906478	6906478	+	Silent	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr19:6906478C>T	ENST00000312053.4	+	9	1021	c.984C>T	c.(982-984)ccC>ccT	p.P328P	EMR1_ENST00000250572.8_Silent_p.P328P|EMR1_ENST00000381407.5_Silent_p.P187P|EMR1_ENST00000450315.3_Silent_p.P151P|EMR1_ENST00000381404.4_Silent_p.P276P	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	328	Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ATGTGATACCCGATAATAAGC	0.388																																						uc002mfw.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62						c.(982-984)ccC>ccT		Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.							140.0	134.0	136.0					19																	6906478		2203	4300	6503	SO:0001819	synonymous_variant	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6906478C>T	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.984C>T	19.37:g.6906478C>T						EMR1_uc010dvc.3_Silent_p.P328P|EMR1_uc010dvb.3_Silent_p.P276P|EMR1_uc010xji.2_Silent_p.P187P|EMR1_uc010xjj.2_Silent_p.P151P	p.P328P	NM_001974	NP_001965	Q14246	EMR1_HUMAN			8	1022	+	all_hematologic(4;0.166)		328			Ser/Thr-rich.		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Silent	SNP	ENST00000312053.4	37	c.984C>T	CCDS12175.1																																																																																				0.388	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1		
RAVER1	125950	broad.mit.edu	37	19	10434234	10434234	+	Silent	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr19:10434234G>A	ENST00000293677.6	-	4	897	c.816C>T	c.(814-816)tgC>tgT	p.C272C	CTD-2369P2.12_ENST00000586529.1_5'Flank	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	255	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CATCCTGGCCGCACGCCAGCT	0.667																																						uc002moa.3																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18						c.(814-816)tgC>tgT		Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.							23.0	27.0	26.0					19																	10434234		2187	4275	6462	SO:0001819	synonymous_variant	125950					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr19:10434234G>A		CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"""RNA binding motif (RRM) containing"""	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.816C>T	19.37:g.10434234G>A							p.C272C	NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		3	896	-			255			RRM 3.		A6NMU4|Q8IY60|Q8TF24	Silent	SNP	ENST00000293677.6	37	c.816C>T	CCDS45960.1																																																																																				0.667	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451227.1	NM_133452	
ZNF676	163223	broad.mit.edu	37	19	22364159	22364159	+	Missense_Mutation	SNP	G	G	C			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr19:22364159G>C	ENST00000397121.2	-	3	677	c.360C>G	c.(358-360)aaC>aaG	p.N120K		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	120					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TATGAAAGACGTTTGCATATT	0.328																																						uc002nqs.1																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(358-360)aaC>aaG		Homo sapiens zinc finger protein 676 (ZNF676), mRNA.							145.0	136.0	139.0					19																	22364159		1988	4194	6182	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22364159G>C	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.360C>G	19.37:g.22364159G>C	ENSP00000380310:p.Asn120Lys						p.N120K	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			2	678	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	120					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.360C>G	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.057955	0.00038	.	.	ENSG00000196109	ENST00000397121	T	0.21031	2.03	0.742	-1.48	0.08745	.	.	.	.	.	T	0.03520	0.0101	N	0.00014	-2.91	0.09310	N	1	D	0.63880	0.993	P	0.55824	0.785	T	0.18555	-1.0333	9	0.02654	T	1	.	2.7232	0.05206	0.4855:0.0:0.3063:0.2082	.	120	Q8N7Q3	ZN676_HUMAN	K	120	ENSP00000380310:N120K	ENSP00000380310:N120K	N	-	3	2	ZNF676	22155999	0.136000	0.22515	0.002000	0.10522	0.159000	0.22180	0.000000	0.12993	-1.476000	0.01874	-1.101000	0.02118	AAC		0.328	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411	
PSG7	5676	broad.mit.edu	37	19	43441294	43441294	+	RNA	SNP	C	C	T	rs374924950		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr19:43441294C>T	ENST00000406070.2	-	0	31				PSG7_ENST00000446844.3_RNA|PSG7_ENST00000471557.1_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				TTCCTGAGCACGGCTGTCAGC	0.617																																						uc002ovl.4																			0													Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.		C	,	2,1382		1,0,691	41.0	43.0	43.0		,	-0.2	0.0	19		43	1,3181		0,1,1590	no	utr-5,utr-5	PSG7	NM_001206650.1,NM_002783.2	,	1,1,2281	TT,TC,CC		0.0314,0.1445,0.0657	,	,	43441294	3,4563	692	1591	2283			5676				female pregnancy	extracellular region		g.chr19:43441294C>T			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43441294C>T						PSG3_uc002ouf.3_5'Flank|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_5'UTR		NM_002783	NP_002774	Q13046	PSG7_HUMAN			0		-		Prostate(69;0.00682)						Q15232	Translation_Start_Site	SNP	ENST00000406070.2	37																																																																																						0.617	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650	
C5AR1	728	broad.mit.edu	37	19	47823567	47823567	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr19:47823567G>A	ENST00000355085.3	+	2	555	c.533G>A	c.(532-534)cGg>cAg	p.R178Q		NM_001736.3	NP_001727.1	P21730	C5AR1_HUMAN	complement component 5a receptor 1	178					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|cell proliferation in hindbrain (GO:0021534)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|complement component C5a signaling pathway (GO:0038178)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ regeneration (GO:0031100)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)|complement component C5a receptor activity (GO:0004878)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CGGGTGGTCCGGGAGGAGTAC	0.637																																						uc002pgj.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20						c.(532-534)cGg>cAg		Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA.							77.0	78.0	78.0					19																	47823567		2203	4300	6503	SO:0001583	missense	728				activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity	g.chr19:47823567G>A		CCDS33063.1	19q13.3-q13.4	2012-08-10	2006-02-09	2006-02-09		ENSG00000197405		"""CD molecules"", ""Complement system"", ""GPCR / Class A : Complement component receptors"""	1338	protein-coding gene	gene with protein product		113995	"""complement component 5 receptor 1 (C5a ligand)"""	C5R1		1612600	Standard	NM_001736		Approved	C5A, C5AR, CD88	uc002pgj.1	P21730		ENST00000355085.3:c.533G>A	19.37:g.47823567G>A	ENSP00000347197:p.Arg178Gln						p.R178Q	NM_001736	NP_001727	P21730	C5AR_HUMAN		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)	1	582	+		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	178						Missense_Mutation	SNP	ENST00000355085.3	37	c.533G>A	CCDS33063.1	.	.	.	.	.	.	.	.	.	.	g	11.01	1.514208	0.27123	.	.	ENSG00000197405	ENST00000355085	T	0.37752	1.18	4.63	-1.63	0.08345	GPCR, rhodopsin-like superfamily (1);	0.935307	0.08914	U	0.875470	T	0.15089	0.0364	N	0.04705	-0.18	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21552	-1.0242	10	0.29301	T	0.29	.	4.609	0.12392	0.4878:0.0:0.358:0.1542	.	178	P21730	C5AR_HUMAN	Q	178	ENSP00000347197:R178Q	ENSP00000347197:R178Q	R	+	2	0	C5AR1	52515407	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.720000	0.01871	-0.737000	0.04824	-0.371000	0.07208	CGG		0.637	C5AR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466925.1	NM_001736	
SPHK2	56848	broad.mit.edu	37	19	49132307	49132307	+	Silent	SNP	A	A	C			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr19:49132307A>C	ENST00000245222.4	+	7	1608	c.1242A>C	c.(1240-1242)tcA>tcC	p.S414S	SPHK2_ENST00000443164.1_Silent_p.S476S|SPHK2_ENST00000599029.1_Silent_p.S378S|SPHK2_ENST00000599748.1_Silent_p.S378S|SPHK2_ENST00000598088.1_Silent_p.S414S|SPHK2_ENST00000600537.1_Silent_p.S355S|SPHK2_ENST00000340932.3_Silent_p.S376S	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	414					blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		tggcccactcacccctgcatc	0.677																																						uc002pjw.3																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(1426-1428)tcA>tcC		Homo sapiens sphingosine kinase 2 (SPHK2), transcript variant 4, mRNA.							25.0	26.0	26.0					19																	49132307		2202	4298	6500	SO:0001819	synonymous_variant	56848				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity	g.chr19:49132307A>C	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.1242A>C	19.37:g.49132307A>C						SPHK2_uc010xzt.2_Silent_p.S355S|SPHK2_uc002pjt.3_Silent_p.S208S|SPHK2_uc002pjr.3_Silent_p.S414S|SPHK2_uc002pjs.3_Silent_p.S414S|SPHK2_uc002pju.3_Intron|SPHK2_uc002pjv.3_Silent_p.S378S	p.S476S	NM_001204160	NP_001191089	Q9NRA0	SPHK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	4	2125	+		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	414					A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Silent	SNP	ENST00000245222.4	37	c.1428A>C	CCDS12727.1																																																																																				0.677	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1		
POLD1	5424	broad.mit.edu	37	19	50918754	50918754	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr19:50918754G>A	ENST00000440232.2	+	21	2677	c.2624G>A	c.(2623-2625)cGc>cAc	p.R875H	POLD1_ENST00000599857.1_Missense_Mutation_p.R875H|POLD1_ENST00000595904.1_Missense_Mutation_p.R901H|CTD-2545M3.6_ENST00000599632.1_5'Flank	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	875					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CTGTGCAACCGCATCGATATC	0.657								DNA polymerases (catalytic subunits)																														uc010eny.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2701-2703)cGc>cAc	DNA polymerases (catalytic subunits)	Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA.							45.0	36.0	39.0					19																	50918754		2203	4300	6503	SO:0001583	missense	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50918754G>A		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.2624G>A	19.37:g.50918754G>A	ENSP00000406046:p.Arg875His					POLD1_uc002psb.4_Missense_Mutation_p.R875H|POLD1_uc002psc.4_Missense_Mutation_p.R875H|POLD1_uc010enx.3_Non-coding_Transcript	p.R901H	NM_002691	NP_002682	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	19	2703	+		all_neural(266;0.0571)	875					Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	c.2702G>A	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604917	0.87157	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.18174	2.23	4.25	4.25	0.50352	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.059138	0.64402	D	0.000002	T	0.40886	0.1135	M	0.92219	3.285	0.80722	D	1	P;P	0.47409	0.792;0.895	B;P	0.49502	0.429;0.613	T	0.58487	-0.7628	10	0.62326	D	0.03	-20.3747	15.8183	0.78621	0.0:0.0:1.0:0.0	.	901;875	E7EVW0;P28340	.;DPOD1_HUMAN	H	875;876	ENSP00000406046:R875H	ENSP00000366129:R876H	R	+	2	0	POLD1	55610566	1.000000	0.71417	1.000000	0.80357	0.384000	0.30261	5.860000	0.69546	2.114000	0.64651	0.450000	0.29827	CGC		0.657	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1		
CCDC148	130940	broad.mit.edu	37	2	159215014	159215015	+	Frame_Shift_Ins	INS	-	-	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr2:159215014_159215015insT	ENST00000283233.5	-	2	406_407	c.93_94insA	c.(91-96)caattgfs	p.L32fs	CCDC148_ENST00000536771.1_Intron|CCDC148_ENST00000409187.1_Frame_Shift_Ins_p.L41fs|CCDC148_ENST00000409889.1_Frame_Shift_Ins_p.L32fs	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	32										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						AATGCACGCAATTGTTGATAGT	0.322																																						uc002tzq.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(91-96)caattgfs		Homo sapiens coiled-coil domain containing 148 (CCDC148), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	130940							g.chr2:159215014_159215015insT		CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.94dupA	2.37:g.159215016_159215016dupT	ENSP00000283233:p.Leu32fs					CCDC148_uc002tzr.3_5'UTR|CCDC148_uc010foh.3_5'UTR|CCDC148_uc010fok.2_Intron|CCDC148_uc010foi.2_Intron|CCDC148_uc010foj.2_5'UTR|CCDC148_uc002tzs.2_Frame_Shift_Ins_p.Q31fs	p.Q31fs	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN			1	407_408	-			31					F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Frame_Shift_Ins	INS	ENST00000283233.5	37	c.93_94insA	CCDS33304.1																																																																																				0.322	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1	NM_138803	
ITGB6	3694	broad.mit.edu	37	2	160993973	160993973	+	Silent	SNP	G	G	A	rs61737765	byFrequency	TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr2:160993973G>A	ENST00000283249.2	-	10	1869	c.1632C>T	c.(1630-1632)tgC>tgT	p.C544C	ITGB6_ENST00000409872.1_Silent_p.C544C|ITGB6_ENST00000428609.2_Silent_p.C502C|ITGB6_ENST00000409967.2_Silent_p.C544C	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	544	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TGTGTCTCACGCAGGAGAAAT	0.527													G|||	8	0.00159744	0.0061	0.0	5008	,	,		23177	0.0		0.0	False		,,,				2504	0.0					uc002ubh.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(1630-1632)tgC>tgT		Homo sapiens integrin, beta 6 (ITGB6), mRNA.		G		23,4383	29.9+/-59.1	0,23,2180	93.0	88.0	90.0		1632	-1.1	1.0	2	dbSNP_129	90	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ITGB6	NM_000888.3		0,24,6479	AA,AG,GG		0.0116,0.522,0.1845		544/789	160993973	24,12982	2203	4300	6503	SO:0001819	synonymous_variant	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:160993973G>A		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1632C>T	2.37:g.160993973G>A						ITGB6_uc010fou.2_Silent_p.C544C|ITGB6_uc010zcq.1_Silent_p.C502C|ITGB6_uc010fov.1_Silent_p.C544C	p.C544C	NM_000888	NP_000879	P18564	ITB6_HUMAN			9	1647	-			544			Cysteine-rich tandem repeats.		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Silent	SNP	ENST00000283249.2	37	c.1632C>T	CCDS2212.1																																																																																				0.527	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888	
COL6A3	1293	broad.mit.edu	37	2	238275681	238275681	+	Missense_Mutation	SNP	C	C	T	rs376135795		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr2:238275681C>T	ENST00000295550.4	-	11	5601	c.5149G>A	c.(5149-5151)Gcc>Acc	p.A1717T	COL6A3_ENST00000353578.4_Missense_Mutation_p.A1511T|COL6A3_ENST00000347401.3_Missense_Mutation_p.A1516T|COL6A3_ENST00000346358.4_Missense_Mutation_p.A1517T|COL6A3_ENST00000472056.1_Missense_Mutation_p.A1110T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A1511T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1717	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTAGTGTTGGCGTGTCTTCCC	0.542																																						uc002vwl.2																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(5149-5151)Gcc>Acc		Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.							93.0	77.0	83.0					2																	238275681		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238275681C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5149G>A	2.37:g.238275681C>T	ENSP00000295550:p.Ala1717Thr					COL6A3_uc002vwo.2_Missense_Mutation_p.A1511T|COL6A3_uc010znj.1_Missense_Mutation_p.A1110T	p.A1717T	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	10	5434	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1717			Nonhelical region.|VWFA 9.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.5149G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.705273	0.48412	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.56	5.56	0.83823	von Willebrand factor, type A (3);	0.000000	0.53938	D	0.000046	T	0.63462	0.2513	N	0.05050	-0.12	0.46222	D	0.998934	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.968	T	0.58312	-0.7658	10	0.05620	T	0.96	.	19.5163	0.95167	0.0:1.0:0.0:0.0	.	1110;1511;1717	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	T	1717;1516;1511;1110;1511;1517	ENSP00000295550:A1717T;ENSP00000315609:A1516T;ENSP00000315873:A1511T;ENSP00000418285:A1110T;ENSP00000386844:A1511T;ENSP00000295546:A1517T	ENSP00000295550:A1717T	A	-	1	0	COL6A3	237940420	0.997000	0.39634	0.954000	0.39281	0.539000	0.34962	3.343000	0.52167	2.604000	0.88044	0.650000	0.86243	GCC		0.542	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
SNX5	27131	broad.mit.edu	37	20	17929612	17929612	+	Silent	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr20:17929612C>T	ENST00000377768.3	-	11	1152	c.840G>A	c.(838-840)gaG>gaA	p.E280E	SNX5_ENST00000377759.4_Silent_p.E280E|SNX5_ENST00000483485.1_5'UTR	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	280	BAR.				intracellular protein transport (GO:0006886)|pinocytosis (GO:0006907)	cytoplasmic vesicle (GO:0031410)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|extrinsic component of endosome membrane (GO:0031313)|macropinocytic cup (GO:0070685)	phosphatidylinositol binding (GO:0035091)	p.E280D(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						AAACTCGACCCTCTACTTTCT	0.383																																						uc002wqc.3																			1	Substitution - Missense(1)	p.E280D(2)	lung(1)	endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						c.(838-840)gaG>gaA		Homo sapiens sorting nexin 5 (SNX5), transcript variant 2, mRNA.							80.0	80.0	80.0					20																	17929612		2203	4300	6503	SO:0001819	synonymous_variant	27131				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding	g.chr20:17929612C>T	AF121855	CCDS13130.1	20p11	2008-05-22			ENSG00000089006	ENSG00000089006		"""Sorting nexins"""	14969	protein-coding gene	gene with protein product		605937				10600472, 17148574	Standard	NM_152227		Approved		uc002wqc.3	Q9Y5X3	OTTHUMG00000031953	ENST00000377768.3:c.840G>A	20.37:g.17929612C>T						SNX5_uc002wqb.3_Non-coding_Transcript|SNX5_uc002wqd.3_Silent_p.E280E|SNX5_uc002wqe.3_Silent_p.E175E|SNX5_uc010zrt.1_Silent_p.E280E	p.E280E	NM_014426	NP_689413	Q9Y5X3	SNX5_HUMAN			9	926	-			280			BAR.		B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	Silent	SNP	ENST00000377768.3	37	c.840G>A	CCDS13130.1																																																																																				0.383	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078137.4		
NCOA3	8202	broad.mit.edu	37	20	46264906	46264906	+	Silent	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr20:46264906C>T	ENST00000371998.3	+	12	1967	c.1776C>T	c.(1774-1776)caC>caT	p.H592H	NCOA3_ENST00000341724.6_Silent_p.H602H|NCOA3_ENST00000371997.3_Silent_p.H602H|NCOA3_ENST00000372004.3_Silent_p.H592H			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	592	Ser-rich.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GCAGAGATCACCTCAGTGACA	0.423																																						uc002xtk.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1774-1776)caC>caT		Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.							63.0	60.0	61.0					20																	46264906		2203	4300	6503	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46264906C>T	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.1776C>T	20.37:g.46264906C>T						NCOA3_uc002xtl.3_Silent_p.H592H|NCOA3_uc002xtn.3_Silent_p.H592H|NCOA3_uc010ght.2_Silent_p.H602H|NCOA3_uc002xtm.3_Silent_p.H592H|NCOA3_uc010zyc.2_Silent_p.H387H	p.H592H	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN			11	2037	+			592			Ser-rich.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.1776C>T	CCDS13407.1																																																																																				0.423	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534	
DSCAM	1826	broad.mit.edu	37	21	41455893	41455893	+	Silent	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr21:41455893C>T	ENST00000400454.1	-	24	4650	c.4173G>A	c.(4171-4173)acG>acA	p.T1391T		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1391	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGAGGAAGACGTGGTCTTGG	0.433																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(4171-4173)acG>acA		Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.							80.0	80.0	80.0					21																	41455893		1905	4127	6032	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41455893C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.4173G>A	21.37:g.41455893C>T						DSCAM_uc002yyr.1_Non-coding_Transcript	p.T1391T	NM_001389	NP_001380	O60469	DSCAM_HUMAN			23	4625	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1391			Fibronectin type-III 5.		O60468	Silent	SNP	ENST00000400454.1	37	c.4173G>A	CCDS42929.1																																																																																				0.433	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389	
CDC45	8318	broad.mit.edu	37	22	19504408	19504408	+	Missense_Mutation	SNP	A	A	C			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr22:19504408A>C	ENST00000407835.1	+	18	1884	c.1628A>C	c.(1627-1629)gAc>gCc	p.D543A	CDC45_ENST00000263201.1_Missense_Mutation_p.D543A|CDC45_ENST00000404724.3_Missense_Mutation_p.D497A|CDC45_ENST00000437685.2_Missense_Mutation_p.D575A			O75419	CDC45_HUMAN	cell division cycle 45	543					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						AACCATTTTGACCTCTCAGGT	0.572																																						uc011aha.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						c.(1723-1725)gAc>gCc		Homo sapiens cell division cycle 45 homolog (S. cerevisiae) (CDC45), transcript variant 1, mRNA.							60.0	57.0	58.0					22																	19504408		2203	4300	6503	SO:0001583	missense	8318				DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding	g.chr22:19504408A>C	AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"""human CDC45"""	603465	"""CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like"", ""CDC45 cell division cycle 45-like (S. cerevisiae)"", ""cell division cycle 45 homolog (S. cerevisiae)"""	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.1628A>C	22.37:g.19504408A>C	ENSP00000385240:p.Asp543Ala					CDC45_uc002zpr.3_Missense_Mutation_p.D543A|CDC45_uc002zpt.3_Missense_Mutation_p.D497A	p.D575A	NM_001178010	NP_001171481	O75419	CDC45_HUMAN			17	1802	+			543					B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Missense_Mutation	SNP	ENST00000407835.1	37	c.1724A>C	CCDS13762.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.298710	0.81025	.	.	ENSG00000093009	ENST00000407835;ENST00000437685;ENST00000263201;ENST00000404724	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	4.79	4.79	0.61399	.	0.092011	0.64402	D	0.000001	T	0.51550	0.1681	M	0.83483	2.645	0.80722	D	1	D;D;D;D	0.67145	0.996;0.981;0.996;0.984	D;P;P;D	0.63381	0.914;0.883;0.886;0.914	T	0.60073	-0.7334	10	0.87932	D	0	-27.0971	14.7845	0.69790	1.0:0.0:0.0:0.0	.	575;497;575;543	E9PDH7;B4DDB4;B4DDU3;O75419	.;.;.;CDC45_HUMAN	A	543;575;543;497	ENSP00000385240:D543A;ENSP00000405726:D575A;ENSP00000263201:D543A;ENSP00000384978:D497A	ENSP00000263201:D543A	D	+	2	0	CDC45	17884408	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.786000	0.91826	2.140000	0.66376	0.533000	0.62120	GAC		0.572	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317903.1	NM_003504	
MED15	51586	broad.mit.edu	37	22	20920814	20920816	+	In_Frame_Del	DEL	CAG	CAG	-	rs67182670|rs535773989	byFrequency	TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr22:20920814_20920816delCAG	ENST00000263205.7	+	7	820_822	c.751_753delCAG	c.(751-753)cagdel	p.Q262del	MED15_ENST00000382974.2_In_Frame_Del_p.Q191del|MED15_ENST00000425759.2_In_Frame_Del_p.Q151del|MED15_ENST00000406969.1_In_Frame_Del_p.Q236del|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000292733.7_In_Frame_Del_p.Q262del|MED15_ENST00000541476.1_In_Frame_Del_p.Q236del|MED15_ENST00000542773.1_In_Frame_Del_p.Q67del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	262	Poly-Gln.		Missing.	Missing (in Ref. 3; BAB85034). {ECO:0000305}.	gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Q250_Q251insQ(4)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			acaacagcaacagcagcagcagc	0.591																																						uc002zsp.3																			4	Insertion - In frame(4)	p.Q250_Q251insQ(4)	ovary(2)|large_intestine(2)	central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(751-753)cagdel		Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20920814_20920816delCAG	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.751_753delCAG	22.37:g.20920823_20920825delCAG	ENSP00000263205:p.Gln262del					MED15_uc002zso.2_In_Frame_Del_p.Q191del|MED15_uc002zsq.3_In_Frame_Del_p.Q262del|MED15_uc010gso.3_In_Frame_Del_p.Q262del|MED15_uc002zsr.3_In_Frame_Del_p.Q236del|MED15_uc011ahs.2_In_Frame_Del_p.Q236del|MED15_uc002zss.3_In_Frame_Del_p.Q181del|MED15_uc011ahu.2_5'UTR	p.Q262del	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		6	831_833	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	262	Missing (in Ref. 3; BAB85034).	Missing.	Poly-Gln.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Del	DEL	ENST00000263205.7	37	c.751_753delCAG	CCDS33602.1																																																																																				0.591	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889	
Unknown	0	broad.mit.edu	37	22	22994945	22994950	+	IGR	DEL	ATGTGA	ATGTGA	-	rs562040237		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr22:22994945_22994950delATGTGA								GGTLC2 (4734 upstream) : D86994.2 (11947 downstream)																							gtgtgtgggtatgtgagtgtgagtgt	0.549																																						uc021wml.1																			0													Parts of antibodies, mostly variable regions.																																				SO:0001628	intergenic_variant	96610							g.chr22:22994945_22994950delATGTGA																													22.37:g.22994945_22994950delATGTGA						abParts_uc021wmm.1_Intron										+									Splice_Site	DEL		37																																																																																					0	0.549								
BSN	8927	broad.mit.edu	37	3	49689184	49689184	+	Missense_Mutation	SNP	G	G	A	rs376181418		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr3:49689184G>A	ENST00000296452.4	+	5	2309	c.2195G>A	c.(2194-2196)cGg>cAg	p.R732Q		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	732					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGCAGCATGCGGCCTTTGCTG	0.667																																						uc003cxe.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(2194-2196)cGg>cAg		Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.			GLN/ARG	0,4406		0,0,2203	47.0	47.0	47.0		2195	4.2	0.9	3		47	1,8599	1.2+/-3.3	0,1,4299	no	missense	BSN	NM_003458.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	732/3927	49689184	1,13005	2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49689184G>A	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.2195G>A	3.37:g.49689184G>A	ENSP00000296452:p.Arg732Gln						p.R732Q	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	4	2309	+			732					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.2195G>A	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	g	12.74	2.028345	0.35797	0.0	1.16E-4	ENSG00000164061	ENST00000296452	T	0.19938	2.11	5.06	4.19	0.49359	.	0.201811	0.40064	N	0.001197	T	0.18425	0.0442	M	0.64997	1.995	0.35097	D	0.764868	P	0.40144	0.704	B	0.27608	0.081	T	0.30090	-0.9990	10	0.29301	T	0.29	.	13.2399	0.59992	0.0773:0.0:0.9227:0.0	.	732	Q9UPA5	BSN_HUMAN	Q	732	ENSP00000296452:R732Q	ENSP00000296452:R732Q	R	+	2	0	BSN	49664188	1.000000	0.71417	0.950000	0.38849	0.828000	0.46876	3.544000	0.53640	1.119000	0.41883	0.556000	0.70494	CGG		0.667	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458	
SEMA3G	56920	broad.mit.edu	37	3	52475289	52475289	+	Silent	SNP	G	G	A	rs138050174		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr3:52475289G>A	ENST00000231721.2	-	7	803	c.804C>T	c.(802-804)cgC>cgT	p.R268R		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	268	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CCACGCAGACGCGGCCCACGC	0.612																																						uc003dea.1																			0		p.R268C(1)		kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18						c.(802-804)cgC>cgT		Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	59.0	47.0	51.0		804	-9.1	0.0	3	dbSNP_134	51	0,8600		0,0,4300	no	coding-synonymous	SEMA3G	NM_020163.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		268/783	52475289	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56920				multicellular organismal development	extracellular region|membrane	receptor activity	g.chr3:52475289G>A		CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.804C>T	3.37:g.52475289G>A							p.R268R	NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)	6	804	-			268			Sema.		Q7L9D9|Q9H7Q3	Silent	SNP	ENST00000231721.2	37	c.804C>T	CCDS2856.1																																																																																				0.612	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	NM_020163	
PLXNA1	5361	broad.mit.edu	37	3	126733439	126733439	+	Missense_Mutation	SNP	G	G	A	rs138171477		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr3:126733439G>A	ENST00000393409.2	+	12	2723	c.2723G>A	c.(2722-2724)aGc>aAc	p.S908N	PLXNA1_ENST00000251772.4_Missense_Mutation_p.S885N	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	908	IPT/TIG 1.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GTGCTGTGCAGCCCTGTGGAG	0.701																																						uc003ejg.3																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(2722-2724)aGc>aAc		Homo sapiens plexin A1 (PLXNA1), mRNA.		G	ASN/SER	0,4406		0,0,2203	78.0	81.0	80.0		2723	3.8	1.0	3	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	no	missense	PLXNA1	NM_032242.3	46	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	908/1897	126733439	1,13005	2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126733439G>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.2723G>A	3.37:g.126733439G>A	ENSP00000377061:p.Ser908Asn						p.S908N	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	11	2723	+			908			IPT/TIG 1.			Missense_Mutation	SNP	ENST00000393409.2	37	c.2723G>A	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	7.238	0.600751	0.13939	0.0	1.16E-4	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.76186	-1.0;-1.0	3.78	3.78	0.43462	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.381644	0.24571	N	0.037388	T	0.49338	0.1551	N	0.08118	0	0.26683	N	0.971499	B	0.02656	0.0	B	0.09377	0.004	T	0.25779	-1.0122	10	0.11182	T	0.66	.	9.6828	0.40080	0.0:0.0:0.6291:0.3709	.	908	Q9UIW2	PLXA1_HUMAN	N	908;885	ENSP00000377061:S908N;ENSP00000251772:S885N	ENSP00000251772:S885N	S	+	2	0	PLXNA1	128216129	0.997000	0.39634	1.000000	0.80357	0.772000	0.43724	0.859000	0.27858	2.125000	0.65367	0.484000	0.47621	AGC		0.701	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242	
NSG1	27065	broad.mit.edu	37	4	4411320	4411320	+	Silent	SNP	C	C	T	rs143847165		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr4:4411320C>T	ENST00000421177.2	+	8	2258	c.267C>T	c.(265-267)ttC>ttT	p.F89F	NSG1_ENST00000397958.1_Silent_p.F89F|NSG1_ENST00000433139.2_Silent_p.F89F|NSG1_ENST00000513555.1_Silent_p.F89F|NSG1_ENST00000506380.1_Silent_p.F89F|NSG1_ENST00000504171.1_Silent_p.F50F|NSG1_ENST00000505246.1_Silent_p.F89F			P42857	NSG1_HUMAN		89					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)											TGGTCCTCTTCGCCCTGGCCT	0.617																																						uc011bvz.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						c.(265-267)ttC>ttT		Homo sapiens DNA segment on chromosome 4 (unique) 234 expressed sequence (D4S234E), transcript variant 1, mRNA.		C	,	0,4406		0,0,2203	168.0	128.0	142.0		267,267	-4.5	0.8	4	dbSNP_134	142	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	D4S234E	NM_001040101.1,NM_014392.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	89/186,89/186	4411320	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27065				dopamine receptor signaling pathway	Golgi membrane|integral to membrane|nucleus	dopamine receptor binding	g.chr4:4411320C>T																												ENST00000421177.2:c.267C>T	4.37:g.4411320C>T						D4S234E_uc011bwa.1_Silent_p.F50F|D4S234E_uc003ghz.3_Silent_p.F89F|D4S234E_uc003gia.3_Silent_p.F89F	p.F89F	NM_014392	NP_055207	P42857	NSG1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.166)	6	1548	+			89					B4DXC5|Q49AQ1	Silent	SNP	ENST00000421177.2	37	c.267C>T	CCDS3376.1																																																																																				0.617	NSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246799.1		
UGT2A3	79799	broad.mit.edu	37	4	69795715	69795715	+	Missense_Mutation	SNP	C	C	T	rs553189244		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr4:69795715C>T	ENST00000251566.4	-	6	1430	c.1400G>A	c.(1399-1401)cGc>cAc	p.R467H	UGT2A3_ENST00000420231.2_Missense_Mutation_p.R178H	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	467					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCCTTTGTGGCGCATGACAAA	0.488																																						uc003hef.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1399-1401)cGc>cAc		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.							92.0	93.0	92.0					4																	69795715		2203	4300	6503	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69795715C>T		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.1400G>A	4.37:g.69795715C>T	ENSP00000251566:p.Arg467His					UGT2A3_uc010ihp.1_Non-coding_Transcript	p.R467H	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN			5	1431	-			467					Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.1400G>A	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	C	9.147	1.015305	0.19355	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.72725	-0.68;-0.68	2.22	1.3	0.21679	.	0.058367	0.64402	D	0.000002	T	0.65709	0.2717	M	0.76002	2.32	0.33073	D	0.535627	B	0.27882	0.192	B	0.27500	0.08	T	0.67421	-0.5675	10	0.56958	D	0.05	.	7.5802	0.27961	0.2567:0.7433:0.0:0.0	.	467	Q6UWM9	UD2A3_HUMAN	H	467;178	ENSP00000251566:R467H;ENSP00000440115:R178H	ENSP00000251566:R467H	R	-	2	0	UGT2A3	69830304	0.838000	0.29461	1.000000	0.80357	0.078000	0.17371	1.832000	0.39151	0.239000	0.21243	-0.500000	0.04577	CGC		0.488	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743	
EGF	1950	broad.mit.edu	37	4	110864421	110864421	+	Silent	SNP	T	T	C			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr4:110864421T>C	ENST00000265171.5	+	3	784	c.339T>C	c.(337-339)aaT>aaC	p.N113N	EGF_ENST00000502723.1_3'UTR|EGF_ENST00000509793.1_Silent_p.N113N|EGF_ENST00000503392.1_Silent_p.N113N	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	113					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	GAGTATGTAATATAGAGAAAA	0.254																																						uc003hzy.4																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(337-339)aaT>aaC		Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	Sulindac(DB00605)						42.0	49.0	46.0					4																	110864421		2195	4290	6485	SO:0001819	synonymous_variant	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110864421T>C	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.339T>C	4.37:g.110864421T>C						EGF_uc011cfu.2_Silent_p.N113N|EGF_uc011cfv.2_Silent_p.N113N	p.N113N	NM_001963	NP_001954	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	2	791	+		Hepatocellular(203;0.0893)	113					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Silent	SNP	ENST00000265171.5	37	c.339T>C	CCDS3689.1																																																																																				0.254	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1		
FAT4	79633	broad.mit.edu	37	4	126241369	126241369	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr4:126241369C>T	ENST00000394329.3	+	1	3816	c.3803C>T	c.(3802-3804)aCa>aTa	p.T1268I		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1268	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGTCAGGTAACACTAATTGGC	0.373																																						uc003ifj.4																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(3802-3804)aCa>aTa		Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.							83.0	76.0	78.0					4																	126241369		1868	4109	5977	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126241369C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.3803C>T	4.37:g.126241369C>T	ENSP00000377862:p.Thr1268Ile						p.T1268I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			0	3803	+			1268			Cadherin 12.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.3803C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	12.92	2.083715	0.36758	.	.	ENSG00000196159	ENST00000394329	T	0.01821	4.62	4.81	4.81	0.61882	Cadherin (4);Cadherin-like (1);	0.215706	0.21825	U	0.068569	T	0.02418	0.0074	L	0.35341	1.055	0.80722	D	1	B	0.10296	0.003	B	0.18263	0.021	T	0.59910	-0.7365	10	0.27785	T	0.31	.	18.0596	0.89373	0.0:1.0:0.0:0.0	.	1268	Q6V0I7	FAT4_HUMAN	I	1268	ENSP00000377862:T1268I	ENSP00000377862:T1268I	T	+	2	0	FAT4	126460819	1.000000	0.71417	0.876000	0.34364	0.990000	0.78478	5.782000	0.68973	2.503000	0.84419	0.561000	0.74099	ACA		0.373	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
INPP4B	8821	broad.mit.edu	37	4	143159105	143159105	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr4:143159105G>A	ENST00000513000.1	-	13	1181	c.748C>T	c.(748-750)Cga>Tga	p.R250*	INPP4B_ENST00000508116.1_Nonsense_Mutation_p.R250*|INPP4B_ENST00000308502.4_Nonsense_Mutation_p.R250*|INPP4B_ENST00000509777.1_Nonsense_Mutation_p.R250*|INPP4B_ENST00000262992.4_Nonsense_Mutation_p.R250*	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	250					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TCTCGAATTCGCATCCACTTA	0.318																																						uc003iix.4																			0		p.R250Q(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(748-750)Cga>Tga		Homo sapiens inositol polyphosphate-4-phosphatase, type II, 105kDa (INPP4B), transcript variant 1, mRNA.							46.0	46.0	46.0					4																	143159105		2201	4295	6496	SO:0001587	stop_gained	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143159105G>A	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.748C>T	4.37:g.143159105G>A	ENSP00000425487:p.Arg250*					INPP4B_uc003iiw.4_Nonsense_Mutation_p.R250*|INPP4B_uc011chm.2_Non-coding_Transcript|INPP4B_uc011chn.1_Nonsense_Mutation_p.R65*|INPP4B_uc011cho.1_Non-coding_Transcript|INPP4B_uc011chp.1_Nonsense_Mutation_p.R121*	p.R250*	NM_003866	NP_003857	O15327	INP4B_HUMAN			12	1343	-	all_hematologic(180;0.158)		250					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Nonsense_Mutation	SNP	ENST00000513000.1	37	c.748C>T	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641784	0.67244	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	.	.	.	5.49	2.61	0.31194	.	0.417260	0.24398	N	0.038872	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	6.4456	0.21875	0.1285:0.0:0.4961:0.3755	.	.	.	.	X	250;250;250;121;250;250;65;65;250;121	.	ENSP00000262992:R250X	R	-	1	2	INPP4B	143378555	0.988000	0.35896	0.997000	0.53966	0.514000	0.34195	1.525000	0.35953	0.748000	0.32831	-0.169000	0.13324	CGA		0.318	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866	
SH3RF1	57630	broad.mit.edu	37	4	170043337	170043337	+	Silent	SNP	A	A	G			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr4:170043337A>G	ENST00000284637.9	-	7	1601	c.1260T>C	c.(1258-1260)gcT>gcC	p.A420A	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	420	Poly-Ala.				negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CAGCAGCAGCAGCGGCGGTGG	0.582																																						uc003isa.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(1258-1260)gcT>gcC		Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA.							47.0	43.0	44.0					4																	170043337		2203	4300	6503	SO:0001819	synonymous_variant	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170043337A>G	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.1260T>C	4.37:g.170043337A>G						SH3RF1_uc010irc.1_Silent_p.A120A	p.A420A	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	6	1595	-		Prostate(90;0.00267)|Renal(120;0.0183)	420			Poly-Ala.		Q05BT2|Q8IW46|Q9HAM2|Q9P234	Silent	SNP	ENST00000284637.9	37	c.1260T>C	CCDS34099.1																																																																																				0.582	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870	
DNAH5	1767	broad.mit.edu	37	5	13719110	13719110	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr5:13719110C>T	ENST00000265104.4	-	72	12484	c.12380G>A	c.(12379-12381)cGc>cAc	p.R4127H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4127	AAA 6. {ECO:0000250}.				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)			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)					CATCCAGAGGCGGAACGCATC	0.493									Kartagener syndrome																													uc003jfd.2																			0				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						c.(12379-12381)cGc>cAc		Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.							143.0	138.0	140.0					5																	13719110		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.chr5:13719110C>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.12380G>A	5.37:g.13719110C>T	ENSP00000265104:p.Arg4127His					DNAH5_uc003jfc.2_Missense_Mutation_p.R295H	p.R4127H	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			71	12422	-	Lung NSC(4;0.00476)		4127			AAA 6 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.12380G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223546	0.58668	.	.	ENSG00000039139	ENST00000265104	T	0.33438	1.41	5.59	4.73	0.59995	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.72898	0.3518	H	0.99516	4.605	0.80722	D	1	D	0.63046	0.992	D	0.70016	0.967	D	0.85301	0.1073	10	0.87932	D	0	.	14.4431	0.67330	0.0:0.9295:0.0:0.0705	.	4127	Q8TE73	DYH5_HUMAN	H	4127	ENSP00000265104:R4127H	ENSP00000265104:R4127H	R	-	2	0	DNAH5	13772110	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	7.709000	0.84645	1.366000	0.46076	-0.142000	0.14014	CGC		0.493	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
TRIO	7204	broad.mit.edu	37	5	14462975	14462975	+	Missense_Mutation	SNP	C	C	G			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr5:14462975C>G	ENST00000344204.4	+	36	5632	c.5608C>G	c.(5608-5610)Ccg>Gcg	p.P1870A	TRIO_ENST00000515710.1_3'UTR|TRIO_ENST00000537187.1_Missense_Mutation_p.P1870A	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1870					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CGTGCCCCTGCCGCCACCCAT	0.652																																						uc003jff.3																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(5608-5610)Ccg>Gcg		Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.							33.0	37.0	36.0					5																	14462975		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14462975C>G	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.5608C>G	5.37:g.14462975C>G	ENSP00000339299:p.Pro1870Ala					TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc003jfh.1_Missense_Mutation_p.P1519A	p.P1870A	NM_007118	NP_009049	O75962	TRIO_HUMAN			35	5614	+	Lung NSC(4;0.000742)		1870					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.5608C>G	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199455	0.58126	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206	T;T	0.75050	-0.9;-0.85	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.86151	0.5864	M	0.72118	2.19	0.80722	D	1	D;B;D	0.76494	0.999;0.113;0.999	D;B;D	0.80764	0.994;0.032;0.991	D	0.87059	0.2152	10	0.72032	D	0.01	.	19.3484	0.94374	0.0:1.0:0.0:0.0	.	1870;1870;1870	D3DTD2;O75962-5;O75962	.;.;TRIO_HUMAN	A	1870;1870;1557	ENSP00000339299:P1870A;ENSP00000446348:P1870A	ENSP00000339299:P1870A	P	+	1	0	TRIO	14515975	1.000000	0.71417	0.941000	0.38009	0.377000	0.30045	7.755000	0.85180	2.570000	0.86706	0.655000	0.94253	CCG		0.652	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118	
GDNF	2668	broad.mit.edu	37	5	37816010	37816010	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr5:37816010C>T	ENST00000326524.2	-	3	578	c.379G>A	c.(379-381)Gtc>Atc	p.V127I	GDNF_ENST00000381826.4_Missense_Mutation_p.V118I|GDNF_ENST00000515058.1_Missense_Mutation_p.V101I|GDNF_ENST00000427982.1_Missense_Mutation_p.V144I|GDNF_ENST00000344622.4_Missense_Mutation_p.V101I	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	127					adult locomotory behavior (GO:0008344)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|enteric nervous system development (GO:0048484)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|metanephros development (GO:0001656)|mRNA stabilization (GO:0048255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neuron projection development (GO:0031175)|organ induction (GO:0001759)|peristalsis (GO:0030432)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|postganglionic parasympathetic nervous system development (GO:0021784)|postsynaptic membrane organization (GO:0001941)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of morphogenesis of a branching structure (GO:0060688)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|ureteric bud formation (GO:0060676)	extracellular region (GO:0005576)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					AAGTCAGTGACATTTAAATGT	0.493																																						uc011cpi.2																			0				NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15						c.(379-381)Gtc>Atc		Homo sapiens glial cell derived neurotrophic factor (GDNF), transcript variant 1, mRNA.							104.0	107.0	106.0					5																	37816010		2203	4300	6503	SO:0001583	missense	2668				adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity	g.chr5:37816010C>T		CCDS3922.1, CCDS3923.1, CCDS54845.1, CCDS54846.1, CCDS75237.1	5p13.1-p12	2014-01-30			ENSG00000168621	ENSG00000168621		"""Endogenous ligands"""	4232	protein-coding gene	gene with protein product	"""astrocyte-derived trophic factor"", ""glial cell line derived neurotrophic factor"", ""glial derived neurotrophic factor"""	600837				8493557	Standard	NM_199231		Approved	ATF1, ATF2, HFB1-GDNF	uc011cpg.2	P39905	OTTHUMG00000090809	ENST00000326524.2:c.379G>A	5.37:g.37816010C>T	ENSP00000317145:p.Val127Ile					GDNF_uc011cpd.2_Missense_Mutation_p.V75I|GDNF_uc011cpe.2_Missense_Mutation_p.V101I|GDNF_uc011cpf.2_Missense_Mutation_p.V101I|GDNF_uc011cpg.2_Missense_Mutation_p.V144I|GDNF_uc011cph.2_Missense_Mutation_p.V118I	p.V127I	NM_000514	NP_000505	P39905	GDNF_HUMAN			2	579	-	all_lung(31;0.00118)		127					B7WPK7|O95448|O95449|O95986|Q6FH33|Q96L44|Q9UD32|Q9UD33|Q9UMV2|Q9UP67|Q9UP97	Missense_Mutation	SNP	ENST00000326524.2	37	c.379G>A	CCDS3922.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473953	0.84640	.	.	ENSG00000168621	ENST00000326524;ENST00000344622;ENST00000515058;ENST00000427982;ENST00000381826	D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42	5.76	5.76	0.90799	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.94981	0.8376	M	0.81497	2.545	0.80722	D	1	D;D;D;D	0.76494	0.994;0.965;0.998;0.999	D;D;D;D	0.85130	0.995;0.981;0.996;0.997	D	0.94873	0.8032	10	0.72032	D	0.01	-14.6879	19.9576	0.97228	0.0:1.0:0.0:0.0	.	127;118;144;101	P39905;P39905-4;P39905-3;P39905-2	GDNF_HUMAN;.;.;.	I	127;101;101;144;118	ENSP00000317145:V127I;ENSP00000339703:V101I;ENSP00000425928:V101I;ENSP00000409007:V144I;ENSP00000371248:V118I	ENSP00000317145:V127I	V	-	1	0	GDNF	37851767	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.487000	0.81328	2.736000	0.93811	0.655000	0.94253	GTC		0.493	GDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207606.1	NM_000514	
PIK3R1	5295	broad.mit.edu	37	5	67589199	67589213	+	In_Frame_Del	DEL	TAACCTTCAGTTCTG	TAACCTTCAGTTCTG	-			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr5:67589199_67589213delTAACCTTCAGTTCTG	ENST00000521381.1	+	10	1803_1817	c.1187_1201delTAACCTTCAGTTCTG	c.(1186-1203)ttaaccttcagttctgtg>ttg	p.TFSSV397del	PIK3R1_ENST00000523872.1_In_Frame_Del_p.TFSSV34del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.TFSSV397del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.TFSSV397del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.TFSSV397del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.TFSSV127del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.TFSSV97del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	397	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	TCTGACCCATTAACCTTCAGTTCTGTGGTTGAATT	0.326			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		2	Whole gene deletion(1)|Unknown(1)	p.0?(1)|p.?(1)	large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1186-1203)ttaaccttcagttctgtg>ttg		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)																																			SO:0001651	inframe_deletion	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589199_67589213delTAACCTTCAGTTCTG	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1187_1201delTAACCTTCAGTTCTG	5.37:g.67589199_67589213delTAACCTTCAGTTCTG	ENSP00000428056:p.Thr397_Val401del	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvc.3_In_Frame_Del_p.TFSSV97del|PIK3R1_uc003jvd.3_In_Frame_Del_p.TFSSV127del|PIK3R1_uc003jve.3_In_Frame_Del_p.TFSSV76del|PIK3R1_uc021xzn.1_In_Frame_Del_p.TFSSV34del|PIK3R1_uc011crb.2_In_Frame_Del_p.TFSSV67del	p.TFSSV397del	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	9	1767_1781	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	397			SH2 1.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Del	DEL	ENST00000521381.1	37	c.1187_1201delTAACCTTCAGTTCTG	CCDS3993.1																																																																																				0.326	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	
PCDHA6	56142	broad.mit.edu	37	5	140208958	140208958	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr5:140208958C>T	ENST00000529310.1	+	1	1396	c.1282C>T	c.(1282-1284)Cgg>Tgg	p.R428W	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.R428W|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	428	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTAACCGCGCGGGACGGGGG	0.617																																						uc003lho.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1282-1284)Cgg>Tgg		Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.							87.0	96.0	93.0					5																	140208958		2203	4300	6503	SO:0001583	missense	56142				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140208958C>T	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1282C>T	5.37:g.140208958C>T	ENSP00000433378:p.Arg428Trp					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Missense_Mutation_p.R428W|PCDHAC2_uc011dab.2_Missense_Mutation_p.R428W	p.R428W	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1309	+			442			Cadherin 4.		O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.1282C>T	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	C	0.353	-0.943651	0.02322	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.01804	4.63;4.63	3.7	0.359	0.16088	Cadherin (5);Cadherin-like (1);	0.000000	0.33732	U	0.004611	T	0.01627	0.0052	L	0.33189	0.99	0.09310	N	1	P;P;P	0.43287	0.631;0.546;0.802	B;B;B	0.39094	0.136;0.214;0.29	T	0.50259	-0.8849	10	0.59425	D	0.04	.	8.1384	0.31069	0.4947:0.3778:0.1275:0.0	.	428;428;428	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	W	428	ENSP00000433378:R428W;ENSP00000434113:R428W	ENSP00000434113:R428W	R	+	1	2	PCDHA6	140189142	0.000000	0.05858	0.004000	0.12327	0.066000	0.16364	-1.364000	0.02590	0.291000	0.22468	0.313000	0.20887	CGG		0.617	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909	
PCDHGA4	56111	broad.mit.edu	37	5	140735359	140735359	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr5:140735359C>T	ENST00000571252.1	+	1	592	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	198	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGCTGGAACGCGCTCTAGA	0.562																																						uc003ljq.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(592-594)Cgc>Tgc		Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.							28.0	31.0	30.0					5																	140735359		2158	4285	6443	SO:0001583	missense	56111				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140735359C>T	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.592C>T	5.37:g.140735359C>T	ENSP00000458570:p.Arg198Cys					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Missense_Mutation_p.R198C	p.R198C	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	592	+			198			Cadherin 2.		Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.592C>T	CCDS58979.1																																																																																				0.562	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917	
PPARGC1B	133522	broad.mit.edu	37	5	149219665	149219665	+	Missense_Mutation	SNP	C	C	T	rs182592244	byFrequency	TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr5:149219665C>T	ENST00000309241.5	+	9	2712	c.2680C>T	c.(2680-2682)Cgg>Tgg	p.R894W	PPARGC1B_ENST00000403750.1_Missense_Mutation_p.R830W|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.R894W|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.R855W	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	894					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CAGGAAGCGGCGGGAAAAGGC	0.577													C|||	3	0.000599042	0.0015	0.0	5008	,	,		18703	0.001		0.0	False		,,,				2504	0.0					uc003lrc.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(2680-2682)Cgg>Tgg		Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.		C	TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	53.0	50.0	51.0		2563,2488,2680	3.1	1.0	5		51	0,8600		0,0,4300	no	missense,missense,missense	PPARGC1B	NM_001172698.1,NM_001172699.1,NM_133263.3	101,101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	855/985,830/960,894/1024	149219665	1,13005	2203	4300	6503	SO:0001583	missense	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149219665C>T	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2680C>T	5.37:g.149219665C>T	ENSP00000312649:p.Arg894Trp					PPARGC1B_uc003lrb.2_Missense_Mutation_p.R894W|PPARGC1B_uc003lrd.3_Missense_Mutation_p.R855W|PPARGC1B_uc021yfr.1_Missense_Mutation_p.R830W|PPARGC1B_uc003lre.1_Missense_Mutation_p.R873W|PPARGC1B_uc003lrf.3_Missense_Mutation_p.R873W	p.R894W	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		8	2771	+			894					A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	37	c.2680C>T	CCDS4298.1	2|2	9.157509157509158E-4|9.157509157509158E-4	2|2	0.0040650406504065045|0.0040650406504065045	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	14.36|14.36	2.510736|2.510736	0.44660|0.44660	2.27E-4|2.27E-4	0.0|0.0	ENSG00000155846|ENSG00000155846	ENST00000434684|ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	.|T;T;T;T	.|0.48201	.|0.82;0.82;0.82;0.82	5.05|5.05	3.06|3.06	0.35304|0.35304	.|Nucleotide-binding, alpha-beta plait (1);	.|0.099637	.|0.43110	.|D	.|0.000610	T|T	0.39545|0.39545	0.1082|0.1082	M|M	0.65975|0.65975	2.015|2.015	0.39522|0.39522	D|D	0.968523|0.968523	.|B;B;B;B;P	.|0.37398	.|0.052;0.101;0.052;0.031;0.593	.|B;B;B;B;B	.|0.29176	.|0.033;0.067;0.033;0.015;0.099	T|T	0.47018|0.47018	-0.9149|-0.9149	5|10	.|0.87932	.|D	.|0	-14.4042|-14.4042	8.1133|8.1133	0.30928|0.30928	0.2739:0.6367:0.0:0.0894|0.2739:0.6367:0.0:0.0894	.|.	.|873;873;855;894;894	.|Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3	.|.;.;.;PRGC2_HUMAN;.	V|W	580|855;894;894;830	.|ENSP00000353638:R855W;ENSP00000377855:R894W;ENSP00000312649:R894W;ENSP00000384403:R830W	.|ENSP00000312649:R894W	A|R	+|+	2|1	0|2	PPARGC1B|PPARGC1B	149199858|149199858	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.869000|1.869000	0.39519|0.39519	1.129000|1.129000	0.42072|0.42072	0.462000|0.462000	0.41574|0.41574	GCG|CGG		0.577	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263	
NRN1	51299	broad.mit.edu	37	6	5999377	5999377	+	Silent	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr6:5999377C>T	ENST00000244766.2	-	3	478	c.261G>A	c.(259-261)gcG>gcA	p.A87A	NRN1_ENST00000495850.1_5'UTR	NM_001278710.1|NM_016588.2	NP_001265639.1|NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1	87					nervous system development (GO:0007399)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|anchored component of membrane (GO:0031225)|cell junction (GO:0030054)|synapse (GO:0045202)				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		ACATATCTTTCGCCCCTTCCT	0.527																																						uc003mwu.3																			0				endometrium(2)|large_intestine(2)|lung(4)	8						c.(259-261)gcG>gcA		Homo sapiens neuritin 1 (NRN1), mRNA.							93.0	83.0	86.0					6																	5999377		2203	4300	6503	SO:0001819	synonymous_variant	51299					anchored to membrane|plasma membrane		g.chr6:5999377C>T	AF136631	CCDS4495.1, CCDS75393.1	6p25.1	2008-02-05			ENSG00000124785	ENSG00000124785			17972	protein-coding gene	gene with protein product		607409				9122250	Standard	NM_016588		Approved	NRN	uc003mwu.3	Q9NPD7	OTTHUMG00000014184	ENST00000244766.2:c.261G>A	6.37:g.5999377C>T						NRN1_uc021ykx.1_Non-coding_Transcript	p.A87A	NM_016588	NP_057672	Q9NPD7	NRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.00415)	2	912	-	Ovarian(93;0.0816)	all_hematologic(90;0.151)	87					B2RA93|Q7Z4Y1	Silent	SNP	ENST00000244766.2	37	c.261G>A	CCDS4495.1																																																																																				0.527	NRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039753.1		
DSP	1832	broad.mit.edu	37	6	7584664	7584664	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr6:7584664T>C	ENST00000379802.3	+	24	7510	c.7169T>C	c.(7168-7170)aTa>aCa	p.I2390T	DSP_ENST00000418664.2_Missense_Mutation_p.I1791T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2390	4.5 X 38 AA tandem repeats (Domain B).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CCAGTTGACATAGCATATAAG	0.443																																						uc003mxp.1																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(7168-7170)aTa>aCa		Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.							84.0	82.0	82.0					6																	7584664		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7584664T>C	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.7169T>C	6.37:g.7584664T>C	ENSP00000369129:p.Ile2390Thr					DSP_uc003mxq.1_Missense_Mutation_p.I1791T|DSP_uc021yle.1_Missense_Mutation_p.I1947T	p.I2390T	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	7448	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2390			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.7169T>C	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	T	10.11	1.259536	0.23051	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.72725	-0.68;-0.68	5.6	5.6	0.85130	.	0.244920	0.36628	N	0.002494	T	0.26159	0.0638	N	0.12182	0.205	0.24965	N	0.9917	B;B	0.32781	0.384;0.001	B;B	0.28709	0.093;0.004	T	0.05869	-1.0859	10	0.13470	T	0.59	.	8.4104	0.32640	0.0:0.116:0.0:0.884	.	1838;2390	Q4LE79;P15924	.;DESP_HUMAN	T	2390;1791	ENSP00000369129:I2390T;ENSP00000396591:I1791T	ENSP00000369129:I2390T	I	+	2	0	DSP	7529663	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	5.114000	0.64648	2.127000	0.65507	0.533000	0.62120	ATA		0.443	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415	
GPR146	115330	broad.mit.edu	37	7	1098107	1098107	+	Frame_Shift_Del	DEL	G	G	-	rs147446123		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr7:1098107delG	ENST00000397095.1	+	2	1179	c.956delG	c.(955-957)cggfs	p.R319fs	RP11-449P15.1_ENST00000549241.1_RNA|C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000357429.6_Intron|GPR146_ENST00000297468.3_Frame_Shift_Del_p.R319fs|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000397098.3_Intron			Q96CH1	GP146_HUMAN	G protein-coupled receptor 146	319						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|ovary(1)|skin(1)	8		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		TGCGGGGACCGGCACTGCTCC	0.617																																						uc003sjx.4																			0				autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|ovary(1)|skin(1)	8						c.(955-957)cggfs		Homo sapiens G protein-coupled receptor 146 (GPR146), mRNA.							39.0	44.0	42.0					7																	1098107		2203	4300	6503	SO:0001589	frameshift_variant	115330					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:1098107delG	BC014241	CCDS5321.1	7p22.3	2012-08-21			ENSG00000164849	ENSG00000164849		"""GPCR / Class A : Orphans"""	21718	protein-coding gene	gene with protein product							Standard	NM_138445		Approved	PGR8	uc003sjy.1	Q96CH1	OTTHUMG00000023934	ENST00000397095.1:c.956delG	7.37:g.1098107delG	ENSP00000380283:p.Arg319fs					C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPR146_uc003sjy.1_Frame_Shift_Del_p.R319fs	p.R319fs	NM_138445	NP_612454	Q96CH1	GP146_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)	1	1155	+		Ovarian(82;0.0779)	319					Q86SP5	Frame_Shift_Del	DEL	ENST00000397095.1	37	c.956delG	CCDS5321.1																																																																																				0.617	GPR146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206855.1	NM_138445	
PDE1C	5137	broad.mit.edu	37	7	31855673	31855673	+	Missense_Mutation	SNP	C	C	T	rs558149608		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr7:31855673C>T	ENST00000396191.1	-	15	2133	c.1678G>A	c.(1678-1680)Gca>Aca	p.A560T	PDE1C_ENST00000396182.2_Missense_Mutation_p.A560T|PDE1C_ENST00000396193.1_Missense_Mutation_p.A620T|PDE1C_ENST00000396184.3_Missense_Mutation_p.A560T|PDE1C_ENST00000479980.1_5'UTR|PDE1C_ENST00000321453.7_Missense_Mutation_p.A560T	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	560					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	TTGCCAGATGCGCCTTCTTCA	0.502													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19217	0.0		0.0	False		,,,				2504	0.0					uc003tcm.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81						c.(1678-1680)Gca>Aca		Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.							221.0	218.0	219.0					7																	31855673		2203	4300	6503	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31855673C>T	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1678G>A	7.37:g.31855673C>T	ENSP00000379494:p.Ala560Thr					PDE1C_uc003tcn.1_Missense_Mutation_p.A560T|PDE1C_uc003tco.2_Missense_Mutation_p.A620T|PDE1C_uc003tcr.3_Missense_Mutation_p.A560T|PDE1C_uc003tcs.3_Missense_Mutation_p.A560T	p.A560T	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		14	2139	-			560					B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.1678G>A	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	C	6.517	0.463641	0.12402	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.72394	-0.64;-0.64;-0.64;-0.65;-0.65	4.92	-1.4	0.08968	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	1.209480	0.06078	N	0.661375	T	0.44371	0.1290	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.22173	-1.0224	10	0.10111	T	0.7	.	5.8546	0.18712	0.1245:0.492:0.0:0.3835	.	560;620;560	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	T	620;560;560;560;560	ENSP00000379496:A620T;ENSP00000379494:A560T;ENSP00000318105:A560T;ENSP00000379487:A560T;ENSP00000379485:A560T	ENSP00000318105:A560T	A	-	1	0	PDE1C	31822198	0.013000	0.17824	0.002000	0.10522	0.666000	0.39218	0.306000	0.19279	-0.416000	0.07473	-0.290000	0.09829	GCA		0.502	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1		
CD36	948	broad.mit.edu	37	7	80295787	80295787	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr7:80295787G>A	ENST00000435819.1	+	11	1414	c.730G>A	c.(730-732)Gac>Aac	p.D244N	CD36_ENST00000433696.2_Intron|CD36_ENST00000544133.1_Missense_Mutation_p.D244N|CD36_ENST00000394788.3_Missense_Mutation_p.D244N|CD36_ENST00000432207.1_Missense_Mutation_p.D244N|CD36_ENST00000534394.1_Missense_Mutation_p.D168N|CD36_ENST00000309881.7_Missense_Mutation_p.D244N|CD36_ENST00000538969.1_Missense_Mutation_p.D184N|CD36_ENST00000447544.2_Missense_Mutation_p.D244N			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	244					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						AAGTCACTGCGACATGATTAA	0.348																																						uc003uhc.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						c.(730-732)Gac>Aac		Homo sapiens CD36 molecule (thrombospondin receptor) (CD36), transcript variant 5, mRNA.							157.0	147.0	150.0					7																	80295787		2203	4300	6503	SO:0001583	missense	948				cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding	g.chr7:80295787G>A	Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"""CD molecules"""	1663	protein-coding gene	gene with protein product		173510	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)"""			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.730G>A	7.37:g.80295787G>A	ENSP00000399421:p.Asp244Asn					CD36_uc011kgv.2_Missense_Mutation_p.D168N|CD36_uc003uhd.4_Missense_Mutation_p.D244N|CD36_uc003uhe.4_Missense_Mutation_p.D244N|CD36_uc003uhf.4_Missense_Mutation_p.D244N|CD36_uc003uhg.4_Missense_Mutation_p.D244N|CD36_uc003uhh.4_Missense_Mutation_p.D244N|CD36_uc022agu.1_Intron|CD36_uc022agv.1_Missense_Mutation_p.D184N	p.D244N	NM_001127444	NP_001120916	P16671	CD36_HUMAN			10	1414	+			244					D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Missense_Mutation	SNP	ENST00000435819.1	37	c.730G>A	CCDS34673.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.002307	0.35320	.	.	ENSG00000135218	ENST00000435819;ENST00000309881;ENST00000534394;ENST00000394788;ENST00000447544;ENST00000432207;ENST00000419819;ENST00000538969;ENST00000544133	T;T;T;T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	5.01	5.01	0.66863	.	0.044013	0.85682	D	0.000000	T	0.59074	0.2167	N	0.20401	0.57	0.49915	D	0.999837	D	0.54047	0.964	P	0.51516	0.672	T	0.56902	-0.7902	9	.	.	.	-10.7638	11.7851	0.52037	0.0821:0.0:0.9179:0.0	.	244	P16671	CD36_HUMAN	N	244;244;168;244;244;244;244;184;244	ENSP00000399421:D244N;ENSP00000308165:D244N;ENSP00000431296:D168N;ENSP00000378268:D244N;ENSP00000415743:D244N;ENSP00000411411:D244N;ENSP00000392298:D244N;ENSP00000439543:D184N;ENSP00000441956:D244N	.	D	+	1	0	CD36	80133723	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	6.022000	0.70839	2.474000	0.83562	0.655000	0.94253	GAC		0.348	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339767.6	NM_001001547	
DPY19L2P2	349152	broad.mit.edu	37	7	102898149	102898149	+	RNA	SNP	C	C	T	rs566031032		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr7:102898149C>T	ENST00000312132.4	-	0	2423							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										CATGAATGTGCGATACCAGGA	0.308													C|||	1	0.000199681	0.0	0.0	5008	,	,		13703	0.001		0.0	False		,,,				2504	0.0					uc003vbh.4																			0											c.(40-42)cGc>cAc		Homo sapiens dpy-19-like 2 pseudogene 2 (C. elegans) (DPY19L2P2), transcript variant 2, non-coding RNA.																																						349152							g.chr7:102898149C>T	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102898149C>T						DPY19L2P2_uc003vbg.4_Non-coding_Transcript|DPY19L2P2_uc010lit.3_Non-coding_Transcript	p.R14H							7	2232	-								Q8N9V4|Q8ND62	Missense_Mutation	SNP	ENST00000312132.4	37	c.41G>A																																																																																					0.308	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634	
SLC26A4	5172	broad.mit.edu	37	7	107303838	107303838	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr7:107303838G>A	ENST00000265715.3	+	3	486	c.262G>A	c.(262-264)Gtc>Atc	p.V88I	SLC26A4-AS1_ENST00000449741.1_RNA|SLC26A4-AS1_ENST00000591896.1_RNA|SLC26A4-AS1_ENST00000587899.1_RNA|SLC26A4-AS1_ENST00000440512.1_RNA	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	88					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GCTTAGTGACGTCATTTCGGG	0.502									Pendred syndrome																													uc003vep.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(262-264)Gtc>Atc		Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.							163.0	133.0	143.0					7																	107303838		2203	4300	6503	SO:0001583	missense	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107303838G>A	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.262G>A	7.37:g.107303838G>A	ENSP00000265715:p.Val88Ile					LOC286002_uc003veo.3_5'Flank	p.V88I	NM_000441	NP_000432	O43511	S26A4_HUMAN			2	486	+			88					B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	c.262G>A	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-2.001731	0.00431	.	.	ENSG00000091137	ENST00000265715;ENST00000440056	D;D	0.90900	-2.75;-2.75	4.8	0.962	0.19643	.	0.495350	0.20760	N	0.086190	T	0.69744	0.3145	N	0.02202	-0.64	0.41986	D	0.99082	B	0.09022	0.002	B	0.11329	0.006	T	0.55231	-0.8173	10	0.08381	T	0.77	.	4.8351	0.13460	0.4832:0.2823:0.2345:0.0	.	88	O43511	S26A4_HUMAN	I	88	ENSP00000265715:V88I;ENSP00000394760:V88I	ENSP00000265715:V88I	V	+	1	0	SLC26A4	107091074	0.033000	0.19621	0.858000	0.33744	0.080000	0.17528	0.181000	0.16880	0.073000	0.16731	-0.383000	0.06682	GTC		0.502	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441	
WDR91	29062	broad.mit.edu	37	7	134874110	134874110	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr7:134874110A>G	ENST00000354475.4	-	12	1785	c.1754T>C	c.(1753-1755)gTc>gCc	p.V585A	WDR91_ENST00000344400.5_Missense_Mutation_p.V585A|WDR91_ENST00000423565.1_Missense_Mutation_p.V550A	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	585										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						CAGCCGGATGACGCCATCAGC	0.488																																						uc003vsp.2																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						c.(1753-1755)gTc>gCc		Homo sapiens WD repeat domain 91 (WDR91), mRNA.							126.0	107.0	113.0					7																	134874110		2203	4300	6503	SO:0001583	missense	29062							g.chr7:134874110A>G	AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"""WD repeat domain containing"""	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.1754T>C	7.37:g.134874110A>G	ENSP00000346466:p.Val585Ala					WDR91_uc010lmr.2_Non-coding_Transcript|WDR91_uc010lmq.2_Missense_Mutation_p.V174A	p.V585A	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN			11	1816	-			585					A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Missense_Mutation	SNP	ENST00000354475.4	37	c.1754T>C	CCDS34758.1	.	.	.	.	.	.	.	.	.	.	A	8.007	0.756680	0.15846	.	.	ENSG00000105875	ENST00000344400;ENST00000354475;ENST00000423565	T;T;T	0.60171	0.21;0.21;0.21	4.62	-0.566	0.11767	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.843870	0.10986	N	0.612194	T	0.37758	0.1015	L	0.28458	0.855	0.25460	N	0.987926	B	0.09022	0.002	B	0.11329	0.006	T	0.24835	-1.0149	10	0.13853	T	0.58	-18.1074	6.295	0.21081	0.66:0.125:0.215:0.0	.	585	A4D1P6	WDR91_HUMAN	A	585;585;550	ENSP00000340877:V585A;ENSP00000346466:V585A;ENSP00000392555:V550A	ENSP00000340877:V585A	V	-	2	0	WDR91	134524650	0.998000	0.40836	0.197000	0.23402	0.449000	0.32228	4.091000	0.57700	0.028000	0.15324	0.533000	0.62120	GTC		0.488	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1	NM_014149	
OR2F2	135948	broad.mit.edu	37	7	143632553	143632553	+	Silent	SNP	C	C	T	rs377643542		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr7:143632553C>T	ENST00000408955.2	+	1	295	c.228C>T	c.(226-228)agC>agT	p.S76S		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					ATGCCACAAGCGTAGTCCCCC	0.517																																						uc011ktv.2																			0		p.T75R(1)|p.T75T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32						c.(226-228)agC>agT		Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.		C		0,4406		0,0,2203	236.0	229.0	231.0		228	1.6	1.0	7		231	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR2F2	NM_001004685.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		76/318	143632553	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	135948				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143632553C>T		CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"""GPCR / Class A : Olfactory receptors"""	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.228C>T	7.37:g.143632553C>T							p.S76S	NM_001004685	NP_001004685	O95006	OR2F2_HUMAN			0	228	+	Melanoma(164;0.0903)		76					A4D2G0|Q6IFP8	Silent	SNP	ENST00000408955.2	37	c.228C>T	CCDS43666.1																																																																																				0.517	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1		
NOBOX	135935	broad.mit.edu	37	7	144098293	144098293	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr7:144098293G>T	ENST00000467773.1	-	4	689	c.690C>A	c.(688-690)caC>caA	p.H230Q	NOBOX_ENST00000483238.1_Missense_Mutation_p.H230Q|NOBOX_ENST00000223140.5_Missense_Mutation_p.H145Q	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	230					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GCACTGGGTTGTGTGTGGCAC	0.617																																						uc022aoj.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26						c.(688-690)caC>caA		Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.							31.0	32.0	31.0					7																	144098293		1939	4131	6070	SO:0001583	missense	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144098293G>T			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.690C>A	7.37:g.144098293G>T	ENSP00000419457:p.His230Gln						p.H230Q	NM_001080413	NP_001073882	O60393	NOBOX_HUMAN			3	690	-	Melanoma(164;0.14)		230					A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37	c.690C>A		.	.	.	.	.	.	.	.	.	.	G	11.69	1.714672	0.30413	.	.	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140;ENST00000555556	D;D;D	0.93076	-2.94;-3.16;-2.94	5.01	4.06	0.47325	.	.	.	.	.	D	0.84884	0.5571	N	0.14661	0.345	0.23168	N	0.998181	B	0.19331	0.035	B	0.14578	0.011	T	0.70414	-0.4878	9	0.17369	T	0.5	-14.1699	9.7202	0.40297	0.0:0.0:0.7789:0.2211	.	230	O60393	NOBOX_HUMAN	Q	230;230;145;19	ENSP00000419565:H230Q;ENSP00000419457:H230Q;ENSP00000223140:H145Q	ENSP00000223140:H145Q	H	-	3	2	NOBOX	143729226	0.995000	0.38212	0.978000	0.43139	0.669000	0.39330	1.015000	0.29963	2.602000	0.87976	0.555000	0.69702	CAC		0.617	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420	
ADAM28	10863	broad.mit.edu	37	8	24167473	24167473	+	Frame_Shift_Del	DEL	A	A	-			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr8:24167473delA	ENST00000265769.4	+	3	327	c.217delA	c.(217-219)aaafs	p.K74fs	ADAM28_ENST00000397649.3_5'UTR|ADAM28_ENST00000437154.2_Frame_Shift_Del_p.K74fs|ADAM28_ENST00000540823.1_5'UTR|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	74					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N75fs*15(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GCTTTATTTGAAAAAAAACAA	0.333																																					NSCLC(193;488 2149 22258 34798 40734)	uc003xdy.3																			1	Insertion - Frameshift(1)	p.N75fs*15(1)	large_intestine(1)	central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(217-219)aaafs		Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.			,	7,4247		0,7,2120	46.0	54.0	51.0		,	3.6	1.0	8		52	8,8238		1,6,4116	no	frameshift,frameshift	ADAM28	NM_021777.3,NM_014265.4	,	1,13,6236	A1A1,A1R,RR		0.097,0.1646,0.12	,	,	24167473	15,12485	2200	4297	6497	SO:0001589	frameshift_variant	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24167473delA	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.217delA	8.37:g.24167473delA	ENSP00000265769:p.Lys74fs					ADAM28_uc003xdx.3_Frame_Shift_Del_p.K73fs|ADAM28_uc011kzz.2_5'UTR|ADAM28_uc011laa.2_Non-coding_Transcript	p.K73fs	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	2	300	+		Prostate(55;0.0959)	73					B2RMV5|Q9Y339|Q9Y3S0	Frame_Shift_Del	DEL	ENST00000265769.4	37	c.217delA	CCDS34865.1																																																																																				0.333	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778	
DOCK5	80005	broad.mit.edu	37	8	25246735	25246735	+	Silent	SNP	G	G	A	rs566691068		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr8:25246735G>A	ENST00000276440.7	+	41	4304	c.4260G>A	c.(4258-4260)tcG>tcA	p.S1420S		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1420	DHR-2.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		ACATCAAGTCGTCCCCCAAGC	0.567													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18092	0.0		0.0	False		,,,				2504	0.0				Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(4258-4260)tcG>tcA		Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.							115.0	102.0	106.0					8																	25246735		2203	4300	6503	SO:0001819	synonymous_variant	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25246735G>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.4260G>A	8.37:g.25246735G>A						DOCK5_uc003xek.3_Silent_p.S209S|DOCK5_uc003xei.3_Silent_p.S990S|DOCK5_uc003xej.3_Non-coding_Transcript	p.S1420S	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	40	4397	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1420			DHR-2.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Silent	SNP	ENST00000276440.7	37	c.4260G>A	CCDS6047.1																																																																																				0.567	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	
BRF2	55290	broad.mit.edu	37	8	37704528	37704528	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr8:37704528C>T	ENST00000220659.6	-	3	500	c.380G>A	c.(379-381)cGa>cAa	p.R127Q	BRF2_ENST00000520601.1_Missense_Mutation_p.R127Q|BRF2_ENST00000521170.1_3'UTR	NM_018310.3	NP_060780.2	P47974	TISD_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	0					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			GTTATGCTGTCGGCAGGTGAT	0.527																																						uc003xkk.3																			0				breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12						c.(379-381)cGa>cAa		Homo sapiens BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like (BRF2), mRNA.							214.0	192.0	200.0					8																	37704528		2203	4300	6503	SO:0001583	missense	55290				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding	g.chr8:37704528C>T	AF298153	CCDS6098.1	8p11.23	2013-05-29	2013-05-29		ENSG00000104221	ENSG00000104221			17298	protein-coding gene	gene with protein product		607013	"""BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like"""			11483580, 11564744	Standard	NM_018310		Approved	FLJ11052, BRFU, TFIIIB50	uc003xkk.3	Q9HAW0	OTTHUMG00000164025	ENST00000220659.6:c.380G>A	8.37:g.37704528C>T	ENSP00000220659:p.Arg127Gln						p.R127Q	NM_018310	NP_060780	Q9HAW0	BRF2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)		2	510	-		Lung NSC(58;0.118)|all_lung(54;0.195)	127					Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000220659.6	37	c.380G>A	CCDS6098.1	.	.	.	.	.	.	.	.	.	.	C	36	5.860472	0.97036	.	.	ENSG00000104221	ENST00000220659;ENST00000545765;ENST00000520601	.	.	.	5.54	5.54	0.83059	Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.79221	0.4409	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80567	-0.1325	9	0.87932	D	0	.	19.4761	0.94989	0.0:1.0:0.0:0.0	.	127	Q9HAW0	BRF2_HUMAN	Q	127;104;127	.	ENSP00000220659:R127Q	R	-	2	0	BRF2	37823686	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.153000	0.77428	2.615000	0.88500	0.555000	0.69702	CGA		0.527	BRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376811.2	NM_018310	
SOX17	64321	broad.mit.edu	37	8	55371633	55371633	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr8:55371633C>T	ENST00000297316.4	+	2	527	c.323C>T	c.(322-324)gCg>gTg	p.A108V		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	108					angiogenesis (GO:0001525)|canonical Wnt signaling pathway (GO:0060070)|cardiac cell fate determination (GO:0060913)|cardiogenic plate morphogenesis (GO:0003142)|cell migration involved in gastrulation (GO:0042074)|common bile duct development (GO:0061009)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cell differentiation (GO:0060956)|endocardium formation (GO:0060214)|endoderm formation (GO:0001706)|endodermal cell fate determination (GO:0007493)|endodermal digestive tract morphogenesis (GO:0061031)|gall bladder development (GO:0061010)|heart formation (GO:0060914)|heart looping (GO:0001947)|inner cell mass cellular morphogenesis (GO:0001828)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth (GO:0030308)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell differentiation (GO:0045597)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein destabilization (GO:0031648)|protein stabilization (GO:0050821)|regulation of cardiac cell fate specification (GO:2000043)|regulation of embryonic development (GO:0045995)|regulation of stem cell division (GO:2000035)|regulation of stem cell proliferation (GO:0072091)|regulation of transcription from RNA polymerase II promoter involved in definitive endodermal cell fate specification (GO:0060807)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|rostrocaudal neural tube patterning (GO:0021903)|signal transduction involved in regulation of gene expression (GO:0023019)|spermatogenesis (GO:0007283)|stem cell fate specification (GO:0048866)|vasculogenesis (GO:0001570)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			TCGTGGAAGGCGCTGACGCTG	0.701																																						uc003xsb.4																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18						c.(322-324)gCg>gTg		Homo sapiens SRY (sex determining region Y)-box 17 (SOX17), mRNA.							14.0	15.0	15.0					8																	55371633		2181	4254	6435	SO:0001583	missense	64321				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr8:55371633C>T	AB073988	CCDS6159.1	8q11.23	2014-09-04			ENSG00000164736	ENSG00000164736		"""SRY (sex determining region Y)-boxes"""	18122	protein-coding gene	gene with protein product		610928				11786926	Standard	NM_022454		Approved		uc003xsb.4	Q9H6I2	OTTHUMG00000164377	ENST00000297316.4:c.323C>T	8.37:g.55371633C>T	ENSP00000297316:p.Ala108Val						p.A108V	NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)		1	527	+		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	108						Missense_Mutation	SNP	ENST00000297316.4	37	c.323C>T	CCDS6159.1	.	.	.	.	.	.	.	.	.	.	C	32	5.182183	0.94885	.	.	ENSG00000164736	ENST00000297316	D	0.98178	-4.77	4.03	4.03	0.46877	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98343	0.9450	L	0.60904	1.88	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	D	0.98039	1.0381	10	0.29301	T	0.29	.	16.3544	0.83230	0.0:1.0:0.0:0.0	.	108	Q9H6I2	SOX17_HUMAN	V	108	ENSP00000297316:A108V	ENSP00000297316:A108V	A	+	2	0	SOX17	55534186	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.760000	0.68793	2.087000	0.62958	0.455000	0.32223	GCG		0.701	SOX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378526.2		
TBC1D31	93594	broad.mit.edu	37	8	124113069	124113069	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr8:124113069A>G	ENST00000287380.1	+	7	944	c.854A>G	c.(853-855)gAt>gGt	p.D285G	TBC1D31_ENST00000327098.5_Missense_Mutation_p.D285G|TBC1D31_ENST00000309336.3_Missense_Mutation_p.D285G|TBC1D31_ENST00000521676.1_Missense_Mutation_p.D180G|TBC1D31_ENST00000378080.2_Missense_Mutation_p.D180G|TBC1D31_ENST00000518805.1_5'Flank|TBC1D31_ENST00000522420.1_Missense_Mutation_p.D180G	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	285						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										CTAAGTCAAGATGGTATTATG	0.353																																						uc003ypp.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(853-855)gAt>gGt		Homo sapiens WD repeat domain 67 (WDR67), transcript variant 1, mRNA.							87.0	86.0	86.0					8																	124113069		2203	4300	6503	SO:0001583	missense	93594					centrosome	Rab GTPase activator activity	g.chr8:124113069A>G	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.854A>G	8.37:g.124113069A>G	ENSP00000287380:p.Asp285Gly					WDR67_uc011lig.2_Missense_Mutation_p.D285G|WDR67_uc011lih.2_Missense_Mutation_p.D175G|WDR67_uc003ypq.2_Non-coding_Transcript|WDR67_uc003yps.2_5'UTR|WDR67_uc003ypo.1_Missense_Mutation_p.D285G|WDR67_uc003ypr.3_Non-coding_Transcript	p.D285G	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		6	944	+	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		285					B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	ENST00000287380.1	37	c.854A>G	CCDS6338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.4|22.4	4.290498|4.290498	0.80914|0.80914	.|.	.|.	ENSG00000156787|ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000543408;ENST00000327098;ENST00000522420;ENST00000521676;ENST00000378080|ENST00000521914	T;T;T;T;T;T|.	0.75050|.	-0.9;0.8;0.8;0.89;0.89;0.89|.	5.26|5.26	5.26|5.26	0.73747|0.73747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.054101|.	0.64402|.	D|.	0.000001|.	T|T	0.78464|0.78464	0.4287|0.4287	M|M	0.84683|0.84683	2.71|2.71	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.97;0.994;1.0|.	P;P;D|.	0.87578|.	0.759;0.899;0.998|.	T|T	0.81300|0.81300	-0.0995|-0.0995	10|5	0.87932|.	D|.	0|.	-15.8465|-15.8465	15.1814|15.1814	0.72962|0.72962	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	285;285;285|.	B7ZL19;Q96DN5;Q3KRB0|.	.;WDR67_HUMAN;.|.	G|V	285;285;164;285;180;180;180|89	ENSP00000287380:D285G;ENSP00000308358:D285G;ENSP00000312701:D285G;ENSP00000429334:D180G;ENSP00000430628:D180G;ENSP00000367320:D180G|.	ENSP00000287380:D285G|.	D|M	+|+	2|1	0|0	WDR67|WDR67	124182250|124182250	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.917000|0.917000	0.54804|0.54804	8.514000|8.514000	0.90545|0.90545	1.995000|1.995000	0.58328|0.58328	0.454000|0.454000	0.30748|0.30748	GAT|ATG		0.353	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647	
ADCY8	114	broad.mit.edu	37	8	131896832	131896832	+	Missense_Mutation	SNP	T	T	G			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr8:131896832T>G	ENST00000286355.5	-	8	4179	c.2087A>C	c.(2086-2088)aAa>aCa	p.K696T	ADCY8_ENST00000377928.3_Missense_Mutation_p.K696T	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	696					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCTGGAGTCTTTAAACATCAG	0.468										HNSCC(32;0.087)																												uc003ytd.4																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(2086-2088)aAa>aCa		Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.							118.0	116.0	117.0					8																	131896832		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131896832T>G	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2087A>C	8.37:g.131896832T>G	ENSP00000286355:p.Lys696Thr	HNSCC(32;0.087)				ADCY8_uc010mds.3_Missense_Mutation_p.K696T	p.K696T	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		7	2343	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		696						Missense_Mutation	SNP	ENST00000286355.5	37	c.2087A>C	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	T	18.35	3.604975	0.66445	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.78003	0.76;-1.14	5.98	5.98	0.97165	.	0.042999	0.85682	D	0.000000	T	0.75413	0.3846	L	0.41492	1.28	0.35681	D	0.814098	P;B	0.38711	0.643;0.276	B;B	0.42995	0.404;0.1	T	0.81967	-0.0690	10	0.52906	T	0.07	.	15.7097	0.77615	0.0:0.0:0.0:1.0	.	696;696	E7EVL1;P40145	.;ADCY8_HUMAN	T	696	ENSP00000286355:K696T;ENSP00000367161:K696T	ENSP00000286355:K696T	K	-	2	0	ADCY8	131966014	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.545000	0.67237	2.307000	0.77673	0.529000	0.55759	AAA		0.468	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1		
KIF24	347240	broad.mit.edu	37	9	34257897	34257897	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr9:34257897G>A	ENST00000402558.2	-	10	1732	c.1708C>T	c.(1708-1710)Cga>Tga	p.R570*	KIF24_ENST00000345050.2_Nonsense_Mutation_p.R436*|KIF24_ENST00000379166.2_Nonsense_Mutation_p.R570*|KIF24_ENST00000379174.3_Nonsense_Mutation_p.R436*			Q5T7B8	KIF24_HUMAN	kinesin family member 24	570					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CTCTGAATTCGTTTTGGAGAG	0.448																																						uc003zua.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(1708-1710)Cga>Tga		Homo sapiens kinesin family member 24 (KIF24), mRNA.							104.0	112.0	109.0					9																	34257897		2203	4300	6503	SO:0001587	stop_gained	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34257897G>A	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.1708C>T	9.37:g.34257897G>A	ENSP00000384433:p.Arg570*					KIF24_uc010mkb.3_Intron	p.R570*	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		10	1828	-			570					Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Nonsense_Mutation	SNP	ENST00000402558.2	37	c.1708C>T	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	G	38	6.795603	0.97845	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	.	.	.	5.53	5.53	0.82687	.	0.000000	0.34025	N	0.004326	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4658	0.94939	0.0:0.0:1.0:0.0	.	.	.	.	X	570;436;570;436;570	.	ENSP00000340179:R436X	R	-	1	2	KIF24	34247897	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.439000	0.44846	2.599000	0.87857	0.655000	0.94253	CGA		0.448	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5		
COL15A1	1306	broad.mit.edu	37	9	101810265	101810265	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr9:101810265C>A	ENST00000375001.3	+	28	3199	c.2776C>A	c.(2776-2778)Cca>Aca	p.P926T		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	926	Collagen-like 4.|Triple-helical region 5 (COL5).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CAAAGGAGATCCAGGGGTCAT	0.617																																						uc004azb.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(2776-2778)Cca>Aca		Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.							58.0	49.0	52.0					9																	101810265		2201	4295	6496	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101810265C>A	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2776C>A	9.37:g.101810265C>A	ENSP00000364140:p.Pro926Thr						p.P926T	NM_001855	NP_001846	P39059	COFA1_HUMAN			27	2982	+		Acute lymphoblastic leukemia(62;0.0562)	926			Triple-helical region 5 (COL5).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.2776C>A	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	C	7.601	0.672708	0.14776	.	.	ENSG00000204291	ENST00000375001	D	0.92348	-3.02	5.86	4.95	0.65309	C-type lectin fold (1);	0.547841	0.18456	N	0.140684	D	0.87908	0.6296	L	0.45470	1.425	0.29155	N	0.878142	B	0.22604	0.072	B	0.23018	0.043	T	0.77096	-0.2714	10	0.14252	T	0.57	-2.8874	12.209	0.54369	0.1704:0.8296:0.0:0.0	.	926	P39059	COFA1_HUMAN	T	926	ENSP00000364140:P926T	ENSP00000364140:P926T	P	+	1	0	COL15A1	100850086	0.992000	0.36948	0.969000	0.41365	0.292000	0.27327	1.555000	0.36277	1.443000	0.47586	0.591000	0.81541	CCA		0.617	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855	
RABL6	55684	broad.mit.edu	37	9	139726289	139726289	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr9:139726289G>A	ENST00000311502.7	+	6	811	c.575G>A	c.(574-576)cGt>cAt	p.R192H	RABL6_ENST00000357466.2_Missense_Mutation_p.R192H|RP11-216L13.18_ENST00000471502.1_RNA|RABL6_ENST00000466096.1_3'UTR|RABL6_ENST00000371671.4_Missense_Mutation_p.R192H|MIR4292_ENST00000585012.1_RNA|RABL6_ENST00000432842.2_Missense_Mutation_p.R154H|RABL6_ENST00000371663.4_Missense_Mutation_p.R192H|RABL6_ENST00000371675.3_Missense_Mutation_p.R77H			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	192	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										GACGACGTGCGTGACTTCATC	0.677																																						uc004cjj.1																			0				endometrium(4)|kidney(1)|lung(4)	9						c.(574-576)cGt>cAt		Homo sapiens chromosome 9 open reading frame 86 (C9orf86), transcript variant 3, mRNA.							48.0	52.0	51.0					9																	139726289		2124	4225	6349	SO:0001583	missense	55684				small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding	g.chr9:139726289G>A	AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"""Rab-like protein 1"", ""partner of ARF"""	610615	"""chromosome 9 open reading frame 86"""	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.575G>A	9.37:g.139726289G>A	ENSP00000311134:p.Arg192His					C9orf86_uc004cjm.2_Missense_Mutation_p.R192H|C9orf86_uc004cjh.3_Missense_Mutation_p.R192H|C9orf86_uc004cji.1_Missense_Mutation_p.R192H|C9orf86_uc004cjk.1_Non-coding_Transcript|C9orf86_uc004cjl.1_Non-coding_Transcript|C9orf86_uc010nbs.1_Missense_Mutation_p.R77H	p.R192H	NM_001173988	NP_001167459	Q3YEC7	PARF_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)	5	1032	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	192			Small GTPase-like.		A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Missense_Mutation	SNP	ENST00000311502.7	37	c.575G>A	CCDS48058.1	.	.	.	.	.	.	.	.	.	.	G	33	5.210729	0.95069	.	.	ENSG00000196642	ENST00000371673;ENST00000371663;ENST00000371671;ENST00000311502;ENST00000357466;ENST00000432842;ENST00000371675	T;T;T;T;T	0.67523	-0.27;-0.25;0.77;0.78;-0.26	4.33	4.33	0.51752	.	0.000000	0.85682	U	0.000000	T	0.73682	0.3618	L	0.34521	1.04	0.80722	D	1	B;B;D;D;D	0.89917	0.345;0.082;1.0;1.0;0.998	B;B;D;D;P	0.87578	0.026;0.01;0.998;0.996;0.793	T	0.75966	-0.3131	10	0.51188	T	0.08	-11.7716	16.1566	0.81673	0.0:0.0:1.0:0.0	.	192;192;192;192;192	A8QVZ8;C6K8I5;Q3YEC7-2;Q3YEC7;C6K8I4	.;.;.;PARF_HUMAN;.	H	192;192;192;192;192;154;77	ENSP00000360727:R192H;ENSP00000311134:R192H;ENSP00000350056:R192H;ENSP00000414081:R154H;ENSP00000360740:R77H	ENSP00000311134:R192H	R	+	2	0	C9orf86	138846110	1.000000	0.71417	0.892000	0.35008	0.866000	0.49608	9.207000	0.95064	2.118000	0.64928	0.313000	0.20887	CGT		0.677	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718	
ARSH	347527	broad.mit.edu	37	X	2931164	2931164	+	Silent	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:2931164G>A	ENST00000381130.2	+	3	291	c.291G>A	c.(289-291)acG>acA	p.T97T		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	97					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CCAATGAAACGACTTTTGCCA	0.552																																						uc011mhj.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34						c.(289-291)acG>acA		Homo sapiens arylsulfatase family, member H (ARSH), mRNA.							157.0	121.0	133.0					X																	2931164		2203	4300	6503	SO:0001819	synonymous_variant	347527					integral to membrane	arylsulfatase activity|metal ion binding	g.chrX:2931164G>A	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"""Arylsulfatase family"""	32488	protein-coding gene	gene with protein product		300586	"""arylsulfatase H"""			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.291G>A	X.37:g.2931164G>A							p.T97T	NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN			2	291	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	97						Silent	SNP	ENST00000381130.2	37	c.291G>A	CCDS35198.1																																																																																				0.552	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719	
ELK1	2002	broad.mit.edu	37	X	47496310	47496310	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:47496310C>T	ENST00000247161.3	-	6	1304	c.1205G>A	c.(1204-1206)aGc>aAc	p.S402N	ELK1_ENST00000376983.3_Missense_Mutation_p.S402N|ELK1_ENST00000592066.1_Missense_Mutation_p.S348N	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	402					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						CACCTGGGCGCTGCCACTGGA	0.597																																						uc004dik.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						c.(1204-1206)aGc>aAc		Homo sapiens ELK1, member of ETS oncogene family (ELK1), transcript variant 1, mRNA.							24.0	21.0	22.0					X																	47496310		2189	4271	6460	SO:0001583	missense	2002				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:47496310C>T	M25269	CCDS14283.1, CCDS59165.1	Xp11.23	2010-07-20			ENSG00000126767	ENSG00000126767			3321	protein-coding gene	gene with protein product		311040				2539641	Standard	NM_001114123		Approved		uc010nhv.4	P19419	OTTHUMG00000021452	ENST00000247161.3:c.1205G>A	X.37:g.47496310C>T	ENSP00000247161:p.Ser402Asn					ELK1_uc010nhv.3_Missense_Mutation_p.S402N|ELK1_uc010nhw.3_Missense_Mutation_p.S292N|ELK1_uc004dil.4_Non-coding_Transcript	p.S402N	NM_001114123	NP_005220	P19419	ELK1_HUMAN			6	1527	-			402					B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Missense_Mutation	SNP	ENST00000247161.3	37	c.1205G>A	CCDS14283.1	.	.	.	.	.	.	.	.	.	.	C	4.846	0.157190	0.09236	.	.	ENSG00000126767	ENST00000247161;ENST00000542746;ENST00000376983	T;T	0.46063	0.88;0.88	5.19	4.33	0.51752	.	0.327281	0.39020	N	0.001487	T	0.21227	0.0511	N	0.17674	0.51	0.80722	D	1	B	0.12630	0.006	B	0.09377	0.004	T	0.10382	-1.0632	10	0.02654	T	1	.	7.2708	0.26256	0.0:0.7959:0.0:0.2041	.	402	P19419	ELK1_HUMAN	N	402;95;402	ENSP00000247161:S402N;ENSP00000366182:S402N	ENSP00000247161:S402N	S	-	2	0	ELK1	47381254	0.904000	0.30761	1.000000	0.80357	0.886000	0.51366	0.540000	0.23191	0.966000	0.38159	0.513000	0.50165	AGC		0.597	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056436.1	NM_005229	
ZNF182	7569	broad.mit.edu	37	X	47842806	47842806	+	Silent	SNP	T	T	C			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:47842806T>C	ENST00000396965.1	-	5	428	c.78A>G	c.(76-78)ctA>ctG	p.L26L	ZNF182_ENST00000305127.6_Silent_p.L26L|ZNF182_ENST00000376943.3_Silent_p.L7L	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	26					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						CAAATGTCACTAGCCCCTGTA	0.463																																						uc004dir.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						c.(76-78)ctA>ctG		Homo sapiens zinc finger protein 182 (ZNF182), transcript variant 1, mRNA.							107.0	94.0	99.0					X																	47842806		2203	4300	6503	SO:0001819	synonymous_variant	7569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47842806T>C	AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.78A>G	X.37:g.47842806T>C						ZNF182_uc004dis.3_Silent_p.L7L|ZNF182_uc004dit.3_Silent_p.L26L|ZNF630_uc010nhz.1_Non-coding_Transcript	p.L26L	NM_006962	NP_008893	P17025	ZN182_HUMAN			4	424	-			26					A2IDD7|Q3KP67|Q96QH7	Silent	SNP	ENST00000396965.1	37	c.78A>G	CCDS35236.1																																																																																				0.463	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962	
WAS	7454	broad.mit.edu	37	X	48545194	48545194	+	Missense_Mutation	SNP	T	T	G			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:48545194T>G	ENST00000376701.4	+	7	659	c.584T>G	c.(583-585)cTg>cGg	p.L195R	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	195					actin filament polymerization (GO:0030041)|actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|blood coagulation (GO:0007596)|defense response (GO:0006952)|endosomal transport (GO:0016197)|epidermis development (GO:0008544)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|regulation of catalytic activity (GO:0050790)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|phospholipase binding (GO:0043274)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				CCGCTCTCCCTGGGGCTGGCG	0.582			"""Mis, N, F, S"""			lymphoma																																uc004dkm.4				X-linked recessive		Wiskott-Aldrich syndrome	X	Xp11.23-p11.22	7454	"""Mis, N, F, S"""	Wiskott-Aldrich syndrome			L		lymphoma			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(583-585)cTg>cGg		Homo sapiens Wiskott-Aldrich syndrome (eczema-thrombocytopenia) (WAS), mRNA.							69.0	57.0	61.0					X																	48545194		2203	4300	6503	SO:0001583	missense	7454				blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity	g.chrX:48545194T>G	AF115548	CCDS14303.1	Xp11.4-p11.21	2014-09-17	2012-07-12		ENSG00000015285	ENSG00000015285			12731	protein-coding gene	gene with protein product	"""eczema-thrombocytopenia"""	300392	"""thrombocytopenia 1 (X-linked)"", ""Wiskott-Aldrich syndrome (eczema-thrombocytopenia)"""	IMD2, THC		7795648	Standard	NM_000377		Approved	WASP	uc004dkm.4	P42768	OTTHUMG00000034483	ENST00000376701.4:c.584T>G	X.37:g.48545194T>G	ENSP00000365891:p.Leu195Arg						p.L195R	NM_000377	NP_000368	P42768	WASP_HUMAN			6	641	+		all_lung(315;1.27e-10)	195					Q9BU11|Q9UNJ9	Missense_Mutation	SNP	ENST00000376701.4	37	c.584T>G	CCDS14303.1	.	.	.	.	.	.	.	.	.	.	T	12.46	1.944106	0.34283	.	.	ENSG00000015285	ENST00000450772;ENST00000376701	D;D	0.99778	-6.73;-6.67	4.39	4.39	0.52855	.	0.493351	0.19643	N	0.109414	D	0.99513	0.9826	L	0.55213	1.73	0.24021	N	0.996144	D	0.69078	0.997	D	0.68943	0.961	D	0.98979	1.0804	10	0.51188	T	0.08	-8.6658	10.7559	0.46237	0.0:0.0:0.0:1.0	.	195	P42768	WASP_HUMAN	R	195	ENSP00000410537:L195R;ENSP00000365891:L195R	ENSP00000365891:L195R	L	+	2	0	WAS	48430138	0.991000	0.36638	0.833000	0.33012	0.367000	0.29736	3.449000	0.52950	1.430000	0.47334	0.231000	0.17811	CTG		0.582	WAS-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083379.1	NM_000377	
SHROOM4	57477	broad.mit.edu	37	X	50377938	50377938	+	Missense_Mutation	SNP	C	C	T	rs376491533		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:50377938C>T	ENST00000289292.7	-	4	1418	c.1135G>A	c.(1135-1137)Gtg>Atg	p.V379M	SHROOM4_ENST00000376020.2_Missense_Mutation_p.V379M|SHROOM4_ENST00000460112.3_Missense_Mutation_p.V263M			Q9ULL8	SHRM4_HUMAN	shroom family member 4	379					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TTGGAATCCACGCTGGAAGCT	0.542																																						uc004dpe.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(1135-1137)Gtg>Atg		Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.		T	MET/VAL	0,3835		0,0,1632,571	51.0	38.0	42.0		1135	0.7	0.0	X		42	1,6727		0,1,2427,1872	no	missense	SHROOM4	NM_020717.3	21	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	benign	379/1494	50377938	1,10562	2203	4300	6503	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50377938C>T	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.1135G>A	X.37:g.50377938C>T	ENSP00000289292:p.Val379Met					SHROOM4_uc004dpd.3_Non-coding_Transcript|SHROOM4_uc004dpf.1_Missense_Mutation_p.V263M	p.V379M	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN			3	1161	-	Ovarian(276;0.236)		379					A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.1135G>A	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.268792	0.00259	0.0	1.49E-4	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.42131	0.98;0.98;0.98	4.69	0.708	0.18144	.	1.358100	0.04602	N	0.398746	T	0.26011	0.0634	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14420	-1.0473	10	0.34782	T	0.22	.	0.5879	0.00723	0.1704:0.1991:0.1733:0.4573	.	379	Q9ULL8	SHRM4_HUMAN	M	379;379;263	ENSP00000289292:V379M;ENSP00000365188:V379M;ENSP00000421450:V263M	ENSP00000289292:V379M	V	-	1	0	SHROOM4	50394678	0.011000	0.17503	0.001000	0.08648	0.000000	0.00434	0.876000	0.28092	-0.340000	0.08388	-1.368000	0.01194	GTG		0.542	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717	
ERCC6L	54821	broad.mit.edu	37	X	71425657	71425657	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:71425657T>C	ENST00000334463.3	-	2	3095	c.2960A>G	c.(2959-2961)aAt>aGt	p.N987S	ERCC6L_ENST00000373657.1_Missense_Mutation_p.N864S|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	987					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TGCTCTGGAATTAGGTGCAGA	0.393																																						uc004eaq.1																			0				breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38						c.(2959-2961)aAt>aGt		Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA.							96.0	90.0	92.0					X																	71425657		2203	4300	6503	SO:0001583	missense	54821				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding	g.chrX:71425657T>C	AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.2960A>G	X.37:g.71425657T>C	ENSP00000334675:p.Asn987Ser					PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.N864S	p.N987S	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN			1	3057	-	Renal(35;0.156)		987					Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	ENST00000334463.3	37	c.2960A>G	CCDS35329.1	.	.	.	.	.	.	.	.	.	.	T	9.224	1.034129	0.19590	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	D;D	0.91792	-2.87;-2.91	5.58	3.19	0.36642	.	.	.	.	.	D	0.87661	0.6233	L	0.59436	1.845	0.09310	N	1	P	0.37525	0.598	B	0.32211	0.142	T	0.78201	-0.2296	9	0.54805	T	0.06	-3.0329	6.3618	0.21433	0.0:0.1995:0.0:0.8005	.	987	Q2NKX8	ERC6L_HUMAN	S	864;987	ENSP00000362761:N864S;ENSP00000334675:N987S	ENSP00000334675:N987S	N	-	2	0	ERCC6L	71342382	0.024000	0.19004	0.002000	0.10522	0.459000	0.32528	0.984000	0.29565	0.266000	0.21894	0.481000	0.45027	AAT		0.393	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669	
AMOT	154796	broad.mit.edu	37	X	112025789	112025789	+	Missense_Mutation	SNP	C	C	A	rs534527259		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:112025789C>A	ENST00000524145.1	-	9	2293	c.2219G>T	c.(2218-2220)cGt>cTt	p.R740L	AMOT_ENST00000371962.1_Missense_Mutation_p.R508L|MIR4329_ENST00000582643.1_RNA|AMOT_ENST00000304758.1_Missense_Mutation_p.R331L|AMOT_ENST00000371958.1_Missense_Mutation_p.R508L|AMOT_ENST00000371959.3_Missense_Mutation_p.R740L			Q4VCS5	AMOT_HUMAN	angiomotin	740					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GTCAAGGCAACGCTTATTGGC	0.453																																						uc004epr.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2218-2220)cGt>cTt		Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA.							192.0	156.0	168.0					X																	112025789		2203	4300	6503	SO:0001583	missense	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112025789C>A	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.2219G>T	X.37:g.112025789C>A	ENSP00000429013:p.Arg740Leu					AMOT_uc004eps.3_Missense_Mutation_p.R331L|AMOT_uc011mtc.1_5'Flank|MIR4329_uc022ccu.1_5'Flank	p.R740L	NM_001113490	NP_573572	Q4VCS5	AMOT_HUMAN			7	2237	-			740					Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	37	c.2219G>T	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	C	34	5.343057	0.95783	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T;T	0.38560	1.13;1.61;1.86;1.61;1.37	5.54	5.54	0.83059	Angiomotin, C-terminal (1);	0.049290	0.85682	D	0.000000	T	0.58921	0.2156	M	0.74881	2.28	0.58432	D	0.999999	P	0.52577	0.954	P	0.53035	0.716	T	0.64219	-0.6459	10	0.72032	D	0.01	-8.0961	17.4084	0.87480	0.0:1.0:0.0:0.0	.	740	Q4VCS5	AMOT_HUMAN	L	331;740;508;740;508	ENSP00000305557:R331L;ENSP00000361027:R740L;ENSP00000361030:R508L;ENSP00000429013:R740L;ENSP00000361026:R508L	ENSP00000305557:R331L	R	-	2	0	AMOT	111912445	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.324000	0.78689	0.523000	0.50628	CGT		0.453	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265	
TMEM255A	55026	broad.mit.edu	37	X	119410875	119410875	+	Nonsense_Mutation	SNP	G	G	T	rs372830851		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:119410875G>T	ENST00000309720.5	-	8	735	c.612C>A	c.(610-612)taC>taA	p.Y204*	TMEM255A_ENST00000371352.1_Nonsense_Mutation_p.Y40*|TMEM255A_ENST00000440464.1_Intron|TMEM255A_ENST00000371369.4_Nonsense_Mutation_p.Y180*	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	204						integral component of membrane (GO:0016021)											CGATGTATTCGTAGTACCCAC	0.582																																						uc004eso.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(7)|lung(4)|prostate(2)	19						c.(610-612)taC>taA		Homo sapiens family with sequence similarity 70, member A (FAM70A), transcript variant 1, mRNA.							233.0	171.0	192.0					X																	119410875		2203	4300	6503	SO:0001587	stop_gained	55026					integral to membrane		g.chrX:119410875G>T	BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member A"""	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.612C>A	X.37:g.119410875G>T	ENSP00000310110:p.Tyr204*					FAM70A_uc004esp.4_Nonsense_Mutation_p.Y180*|FAM70A_uc010nqo.3_Intron	p.Y204*	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN			7	839	-			204					A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Nonsense_Mutation	SNP	ENST00000309720.5	37	c.612C>A	CCDS14597.1	.	.	.	.	.	.	.	.	.	.	G	36	5.948199	0.97134	.	.	ENSG00000125355	ENST00000309720;ENST00000371369;ENST00000371352	.	.	.	5.27	-2.71	0.05986	.	0.056595	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.6748	10.4148	0.44316	0.5677:0.0:0.4323:0.0	.	.	.	.	X	204;180;40	.	ENSP00000310110:Y204X	Y	-	3	2	FAM70A	119294903	0.039000	0.19947	0.897000	0.35233	0.971000	0.66376	-0.425000	0.07017	-1.008000	0.03404	-0.896000	0.02909	TAC		0.582	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	NM_017938	
GDI1	2664	broad.mit.edu	37	X	153666947	153666947	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:153666947G>A	ENST00000447750.2	+	2	459	c.124G>A	c.(124-126)Gag>Aag	p.E42K		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	42					negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTACGGGGGCGAGAGCTCCTC	0.617																																						uc004fli.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16						c.(124-126)Gag>Aag		Homo sapiens GDP dissociation inhibitor 1 (GDI1), mRNA.							99.0	75.0	83.0					X																	153666947		2203	4300	6503	SO:0001583	missense	2664				protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding	g.chrX:153666947G>A	X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"""mental retardation, X-linked 41"", ""mental retardation, X-linked 48"", ""rab GDP-dissociation inhibitor, alpha"""	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.124G>A	X.37:g.153666947G>A	ENSP00000394071:p.Glu42Lys					GDI1_uc011mzo.1_Missense_Mutation_p.E42K	p.E42K	NM_001493	NP_001484	P31150	GDIA_HUMAN			1	466	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		42					P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Missense_Mutation	SNP	ENST00000447750.2	37	c.124G>A	CCDS35452.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.395952	0.83011	.	.	ENSG00000203879	ENST00000447750;ENST00000369741	T	0.58358	0.34	4.53	4.53	0.55603	.	0.064974	0.64402	D	0.000010	T	0.64114	0.2569	M	0.92459	3.31	0.80722	D	1	B;B	0.32031	0.319;0.352	B;B	0.34301	0.179;0.073	T	0.72431	-0.4296	10	0.72032	D	0.01	0.2163	13.6829	0.62496	0.0:0.0:1.0:0.0	.	42;42	B4DH24;P31150	.;GDIA_HUMAN	K	42	ENSP00000394071:E42K	ENSP00000358756:E42K	E	+	1	0	GDI1	153320141	1.000000	0.71417	0.906000	0.35671	0.984000	0.73092	9.569000	0.98170	2.091000	0.63221	0.529000	0.55759	GAG		0.617	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081649.2	NM_001493	
