#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_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CASZ1	54897	broad.mit.edu	37	1	10702967	10702967	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:10702967T>A	ENST00000377022.3	-	20	4428	c.4111A>T	c.(4111-4113)Atg>Ttg	p.M1371L	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1371					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CTCCGGTCCATGGTGGATGAC	0.662																																							uc001aro.2		NA																	0				skin(1)	1						c.(4111-4113)ATG>TTG		castor homolog 1, zinc finger isoform a							24.0	29.0	28.0					1																	10702967		2136	4241	6377	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10702967T>A	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.4111A>T	1.37:g.10702967T>A	ENSP00000366221:p.Met1371Leu						p.M1371L	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	20	4431	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	1371					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.4111A>T	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	T	18.42	3.620954	0.66787	.	.	ENSG00000130940	ENST00000377022	.	.	.	4.91	4.91	0.64330	.	0.296882	0.21687	U	0.070634	T	0.32285	0.0824	N	0.11427	0.14	0.80722	D	1	B	0.33777	0.425	B	0.29077	0.098	T	0.16453	-1.0402	9	0.25751	T	0.34	-17.7479	14.5621	0.68148	0.0:0.0:0.0:1.0	.	1371	Q86V15	CASZ1_HUMAN	L	1371	.	ENSP00000366221:M1371L	M	-	1	0	CASZ1	10625554	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.873000	0.56093	1.850000	0.53721	0.454000	0.30748	ATG		0.662	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		11	17	0	0	0	0.080935	0	11	17				
MROH7	374977	broad.mit.edu	37	1	55161113	55161113	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:55161113G>C	ENST00000421030.2	+	17	3199	c.2914G>C	c.(2914-2916)Gag>Cag	p.E972Q	MROH7_ENST00000339553.5_Missense_Mutation_p.E972Q|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.E972Q|MROH7_ENST00000454855.2_Missense_Mutation_p.E490Q|MROH7_ENST00000409996.1_Missense_Mutation_p.E540Q|MROH7_ENST00000395690.2_Missense_Mutation_p.E972Q|MROH7_ENST00000545244.1_Intron	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	972						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CCCGCTCCTGGAGCGAGGCGA	0.667																																							uc010ooe.1		NA																	0					0						c.(2914-2916)GAG>CAG		hypothetical protein LOC374977							34.0	38.0	37.0					1																	55161113		2100	4227	6327	SO:0001583	missense	374977					integral to membrane	binding	g.chr1:55161113G>C	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.2914G>C	1.37:g.55161113G>C	ENSP00000396622:p.Glu972Gln					C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Intron|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Missense_Mutation_p.E490Q|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Missense_Mutation_p.E972Q|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA|C1orf175_uc009vzr.1_Missense_Mutation_p.E174Q|C1orf175_uc001cxu.2_Missense_Mutation_p.E118Q	p.E972Q	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN			17	3238	+			972			HEAT 1.		A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	c.2914G>C	CCDS41342.2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274960	0.80580	.	.	ENSG00000184313	ENST00000421030;ENST00000414867;ENST00000339553;ENST00000409996;ENST00000454855;ENST00000395690	T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41	5.09	5.09	0.68999	Armadillo-like helical (1);Armadillo-type fold (1);	0.257044	0.28279	N	0.015922	T	0.58481	0.2125	L	0.46741	1.465	0.34154	D	0.667842	D;P;D;P	0.57899	0.981;0.879;0.973;0.906	P;P;P;P	0.55999	0.789;0.504;0.77;0.677	T	0.65071	-0.6257	10	0.31617	T	0.26	-21.552	13.8711	0.63619	0.0:0.0:1.0:0.0	.	972;972;972;127	F8W8P2;Q68CQ1;Q68CQ1-9;Q69YY0	.;HEAT8_HUMAN;.;.	Q	972;1001;972;540;490;972	ENSP00000396622:E972Q;ENSP00000343211:E972Q;ENSP00000387048:E540Q;ENSP00000401130:E490Q;ENSP00000379044:E972Q	ENSP00000343211:E972Q	E	+	1	0	HEATR8	54933701	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.787000	0.62432	2.645000	0.89757	0.462000	0.41574	GAG		0.667	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		9	19	0	0	0	0.069234	0	9	19				
MYSM1	114803	broad.mit.edu	37	1	59165712	59165712	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:59165712C>G	ENST00000472487.1	-	1	52	c.13G>C	c.(13-15)Gag>Cag	p.E5Q		NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	5					chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.E5*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					ACATCCGCCTCTTCAGCCGCC	0.692																																							uc009wab.1		NA																	1	Substitution - Nonsense(1)		large_intestine(1)	skin(1)	1						c.(13-15)GAG>CAG		Myb-like, SWIRM and MPN domains 1							29.0	37.0	35.0					1																	59165712		1920	4121	6041	SO:0001583	missense	114803				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:59165712C>G	AB067502	CCDS41343.1	1p32.1	2009-02-11	2009-02-11		ENSG00000162601	ENSG00000162601			29401	protein-coding gene	gene with protein product		612176				11572484, 17428495, 17707232	Standard	NM_001085487		Approved	KIAA1915	uc009wab.2	Q5VVJ2	OTTHUMG00000009533	ENST00000472487.1:c.13G>C	1.37:g.59165712C>G	ENSP00000418734:p.Glu5Gln					MYSM1_uc001czd.2_Missense_Mutation_p.E5Q	p.E5Q	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN			1	36	-	all_cancers(7;9.36e-06)		5					A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Missense_Mutation	SNP	ENST00000472487.1	37	c.13G>C	CCDS41343.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.450026	0.63290	.	.	ENSG00000162601	ENST00000472487	T	0.32753	1.44	4.66	4.66	0.58398	.	0.192351	0.43260	D	0.000584	T	0.21550	0.0519	L	0.27053	0.805	0.41882	D	0.990326	P	0.41475	0.751	B	0.36608	0.229	T	0.04386	-1.0955	10	0.51188	T	0.08	-7.8458	13.234	0.59958	0.0:1.0:0.0:0.0	.	5	Q5VVJ2	MYSM1_HUMAN	Q	5	ENSP00000418734:E5Q	ENSP00000418734:E5Q	E	-	1	0	MYSM1	58938300	1.000000	0.71417	0.998000	0.56505	0.734000	0.41952	3.926000	0.56491	2.560000	0.86352	0.655000	0.94253	GAG		0.692	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026343.2	XM_055481		5	45	0	0	0	0.217242	0	5	45				
ROR1	4919	broad.mit.edu	37	1	64516358	64516358	+	Splice_Site	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:64516358G>T	ENST00000371079.1	+	4	827	c.452G>T	c.(451-453)gGc>gTc	p.G151V	ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Splice_Site_p.G151V	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	151					peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						ATTTCTTCAGGCCCCCCTCCC	0.398																																							uc001dbj.2		NA																	0				ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						c.(451-453)GGC>GTC		receptor tyrosine kinase-like orphan receptor 1							265.0	244.0	251.0					1																	64516358		2203	4300	6503	SO:0001630	splice_region_variant	4919				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr1:64516358G>T	M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.452-1G>T	1.37:g.64516358G>T						ROR1_uc001dbi.3_Missense_Mutation_p.G151V	p.G151V	NM_005012	NP_005003	Q01973	ROR1_HUMAN			4	851	+			151			Extracellular (Potential).		Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	ENST00000371079.1	37	c.452G>T	CCDS626.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.136684	0.56936	.	.	ENSG00000185483	ENST00000371080;ENST00000371079;ENST00000544776	T;T	0.37584	1.19;1.19	5.42	5.42	0.78866	Immunoglobulin-like fold (1);	0.000000	0.43579	D	0.000545	T	0.25158	0.0611	L	0.48642	1.525	0.80722	D	1	B;B	0.30068	0.194;0.267	B;B	0.35182	0.197;0.08	T	0.04991	-1.0913	9	.	.	.	.	19.2081	0.93742	0.0:0.0:1.0:0.0	.	151;151	Q01973;Q66K77	ROR1_HUMAN;.	V	151;151;154	ENSP00000360121:G151V;ENSP00000360120:G151V	.	G	+	2	0	ROR1	64288946	1.000000	0.71417	0.971000	0.41717	0.943000	0.58893	6.624000	0.74243	2.532000	0.85374	0.467000	0.42956	GGC		0.398	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012	Missense_Mutation	56	135	1	0	3.09758e-43	0.139131	4.25117e-43	56	135				
IFI44L	10964	broad.mit.edu	37	1	79094635	79094636	+	Splice_Site	DNP	GG	GG	TT			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:79094635_79094636GG>TT	ENST00000370751.5	+	3	657_658	c.478_479GG>TT	c.(478-480)GGa>TTa	p.G160L	IFI44L_ENST00000476521.1_3'UTR|IFI44L_ENST00000342282.3_5'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	160					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						ATTTCCTATAGGAATTAAGGAT	0.307																																							uc010oro.1		NA																	0					0						c.e3-1		interferon-induced protein 44-like																																				SO:0001630	splice_region_variant	10964					cytoplasm		g.chr1:79094635_79094636GG>TT	AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"""chromosome 1 open reading frame 29"""	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	Exception_encountered	1.37:g.79094635_79094636delinsTT						IFI44L_uc010orp.1_Splice_Site|IFI44L_uc010orq.1_Intron	p.G160_splice	NM_006820	NP_006811	Q53G44	IF44L_HUMAN			3	658	+								Q86TE1|Q96B64|Q99984	Splice_Site	DNP	ENST00000370751.5	37	c.479_splice	CCDS687.2																																																																																				0.307	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3	NM_006820	Missense_Mutation	12	29	0	0	0	0.115264	0	12	29				
MCOLN3	55283	broad.mit.edu	37	1	85510827	85510827	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:85510827C>T	ENST00000370589.2	-	2	269	c.217G>A	c.(217-219)Gtg>Atg	p.V73M	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000370587.1_Missense_Mutation_p.V73M|MCOLN3_ENST00000341115.4_Missense_Mutation_p.V73M	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	73					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TGGATAGTCACCATTGCAATT	0.343																																							uc001dkp.2		NA																	0				skin(1)	1						c.(217-219)GTG>ATG		mucolipin 3							93.0	94.0	94.0					1																	85510827		2202	4300	6502	SO:0001583	missense	55283					integral to membrane	ion channel activity	g.chr1:85510827C>T	AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.217G>A	1.37:g.85510827C>T	ENSP00000359621:p.Val73Met					MCOLN3_uc001dkq.2_Missense_Mutation_p.V73M|MCOLN3_uc001dkr.2_Missense_Mutation_p.V73M|MCOLN3_uc001dks.3_Translation_Start_Site	p.V73M	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN		all cancers(265;0.00957)|Epithelial(280;0.0254)	2	310	-			73			Helical; (Potential).		Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	37	c.217G>A	CCDS701.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047743	0.75846	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115;ENST00000370587	T;T;T	0.57595	0.39;0.39;0.39	5.55	5.55	0.83447	.	0.173808	0.50627	D	0.000110	T	0.73426	0.3585	M	0.87827	2.91	0.34133	D	0.665438	D;D;D	0.89917	1.0;0.994;0.996	D;D;P	0.80764	0.994;0.926;0.871	T	0.79110	-0.1938	10	0.87932	D	0	-0.4559	19.5127	0.95148	0.0:1.0:0.0:0.0	.	73;73;73	B1ANB7;Q8TDD5-2;Q8TDD5	.;.;MCLN3_HUMAN	M	73	ENSP00000359621:V73M;ENSP00000342698:V73M;ENSP00000359619:V73M	ENSP00000304843:V73M	V	-	1	0	MCOLN3	85283415	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.680000	0.68168	2.614000	0.88457	0.491000	0.48974	GTG		0.343	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298		13	19	0	0	0	0.146539	0	13	19				
IGSF3	3321	broad.mit.edu	37	1	117150638	117150638	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:117150638T>G	ENST00000369486.3	-	5	1913	c.1148A>C	c.(1147-1149)aAa>aCa	p.K383T	IGSF3_ENST00000318837.6_Missense_Mutation_p.K383T|IGSF3_ENST00000369483.1_Missense_Mutation_p.K383T	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	383	Ig-like C2-type 3.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GGTCACGGTTTTCTCTCGCTC	0.517																																							uc001egr.1		NA																	0				ovary(2)	2						c.(1147-1149)AAA>ACA		immunoglobulin superfamily, member 3 isoform 2							84.0	88.0	87.0					1																	117150638		2203	4300	6503	SO:0001583	missense	3321					integral to membrane		g.chr1:117150638T>G	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1148A>C	1.37:g.117150638T>G	ENSP00000358498:p.Lys383Thr					IGSF3_uc001egq.1_Missense_Mutation_p.K383T|IGSF3_uc001egs.1_Missense_Mutation_p.K56T	p.K383T	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	5	1853	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	383			Ig-like C2-type 3.|Extracellular (Potential).		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.1148A>C	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	T	13.25	2.182057	0.38511	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.64991	-0.13;-0.13;-0.13	4.67	2.35	0.29111	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.235184	0.42548	D	0.000697	T	0.48333	0.1494	N	0.24115	0.695	0.47584	D	0.999463	D;D;D	0.76494	0.983;0.999;0.987	P;D;P	0.71656	0.798;0.974;0.872	T	0.52290	-0.8595	10	0.49607	T	0.09	-21.3422	6.2891	0.21049	0.0:0.2917:0.0:0.7083	.	383;383;383	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	T	383	ENSP00000358498:K383T;ENSP00000358495:K383T;ENSP00000321184:K383T	ENSP00000321184:K383T	K	-	2	0	IGSF3	116952161	1.000000	0.71417	0.092000	0.20876	0.294000	0.27393	3.552000	0.53705	0.392000	0.25172	0.455000	0.32223	AAA		0.517	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		52	86	0	0	0	0.139131	0	52	86				
ITGA10	8515	broad.mit.edu	37	1	145532169	145532169	+	Silent	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:145532169G>T	ENST00000369304.3	+	8	988	c.813G>T	c.(811-813)ctG>ctT	p.L271L	ITGA10_ENST00000538811.1_Silent_p.L140L|ITGA10_ENST00000481236.1_3'UTR|ITGA10_ENST00000539363.1_Silent_p.L128L	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	271	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCAGGCTACTGGTGGTTGTCA	0.552																																							uc001eoa.2		NA																	0				lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8						c.(811-813)CTG>CTT		integrin, alpha 10 precursor							86.0	88.0	87.0					1																	145532169		2203	4300	6503	SO:0001819	synonymous_variant	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145532169G>T	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.813G>T	1.37:g.145532169G>T						NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Silent_p.L140L|ITGA10_uc009wiw.2_Silent_p.L128L|ITGA10_uc010oyw.1_Silent_p.L216L	p.L271L	NM_003637	NP_003628	O75578	ITA10_HUMAN			8	889	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		271			VWFA.|Extracellular (Potential).		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Silent	SNP	ENST00000369304.3	37	c.813G>T	CCDS918.1																																																																																				0.552	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		11	143	1	0	1.49906e-05	0.11911	1.64814e-05	11	143				
FDPS	2224	broad.mit.edu	37	1	155290326	155290326	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:155290326G>A	ENST00000356657.6	+	11	1348	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|FDPS_ENST00000368356.4_Missense_Mutation_p.E396K|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000368352.5_5'Flank|FDPS_ENST00000447866.1_Missense_Mutation_p.E330K|RUSC1_ENST00000368354.3_5'Flank	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	396					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	GGCTCTCATTGAACAGTACGC	0.547																																							uc001fkc.2		NA																	0					0						c.(1186-1188)GAA>AAA		farnesyl diphosphate synthase isoform a	Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)						59.0	56.0	57.0					1																	155290326		2203	4300	6503	SO:0001583	missense	2224				cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding	g.chr1:155290326G>A	J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"""farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"""	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.1186G>A	1.37:g.155290326G>A	ENSP00000349078:p.Glu396Lys					RAG1AP1_uc010pey.1_Intron|FDPS_uc001fkd.2_Missense_Mutation_p.E330K|FDPS_uc001fke.2_Missense_Mutation_p.E396K|FDPS_uc001fkf.2_Missense_Mutation_p.E330K|C1orf104_uc001fkh.1_Intron|C1orf104_uc001fki.2_3'UTR|RUSC1_uc001fkj.2_5'Flank|RUSC1_uc001fkk.2_5'Flank|RUSC1_uc009wqn.1_5'Flank|RUSC1_uc009wqo.1_5'Flank	p.E396K	NM_002004	NP_001995	P14324	FPPS_HUMAN	Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		11	1405	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		396					D3DV91|E9PCI9|Q96G29	Missense_Mutation	SNP	ENST00000356657.6	37	c.1186G>A	CCDS1110.1	.	.	.	.	.	.	.	.	.	.	G	6.549	0.469559	0.12461	.	.	ENSG00000160752	ENST00000447866;ENST00000368356;ENST00000356657	T;T;T	0.64803	-0.12;-0.12;-0.12	3.24	0.0121	0.14090	Terpenoid synthase (2);	0.209202	0.23803	N	0.044419	T	0.33990	0.0882	M	0.77103	2.36	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.31916	-0.9926	10	0.46703	T	0.11	-9.19	2.4175	0.04439	0.113:0.3222:0.389:0.1759	.	396	P14324	FPPS_HUMAN	K	330;396;396	ENSP00000391755:E330K;ENSP00000357340:E396K;ENSP00000349078:E396K	ENSP00000349078:E396K	E	+	1	0	FDPS	153556950	0.000000	0.05858	0.007000	0.13788	0.029000	0.11900	0.567000	0.23608	0.022000	0.15160	0.462000	0.41574	GAA		0.547	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039053.1	NM_002004		5	96	0	0	0	0.184627	0	5	96				
FCRL1	115350	broad.mit.edu	37	1	157772326	157772326	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:157772326C>A	ENST00000368176.3	-	4	515	c.448G>T	c.(448-450)Ggg>Tgg	p.G150W	FCRL1_ENST00000491942.1_Missense_Mutation_p.G150W|FCRL1_ENST00000358292.3_Missense_Mutation_p.G150W|FCRL1_ENST00000489998.1_5'UTR	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	150	Ig-like C2-type 2.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCTACAGCCCCTTTGTACCAA	0.517																																					GBM(54;482 1003 11223 30131 35730)	GBM(54;482 1003 11223 30131 35730)	uc001frg.2		NA																	0				skin(4)|ovary(3)	7						c.(448-450)GGG>TGG		Fc receptor-like 1 isoform 1 precursor							104.0	88.0	94.0					1																	157772326		2203	4300	6503	SO:0001583	missense	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157772326C>A	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.448G>T	1.37:g.157772326C>A	ENSP00000357158:p.Gly150Trp					FCRL1_uc001frf.2_5'Flank|FCRL1_uc001frh.2_Missense_Mutation_p.G150W|FCRL1_uc001fri.2_Missense_Mutation_p.G150W|FCRL1_uc001frj.2_Intron	p.G150W	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		4	561	-	all_hematologic(112;0.0378)		150			Ig-like C2-type 2.|Extracellular (Potential).		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	c.448G>T	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.167383	0.57476	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.03663	3.85;3.85;3.85	5.52	5.52	0.82312	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.096481	0.46145	D	0.000314	T	0.15478	0.0373	M	0.87617	2.895	0.41438	D	0.987908	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.981;0.999;1.0	T	0.00192	-1.1935	10	0.87932	D	0	.	15.2965	0.73913	0.0:1.0:0.0:0.0	.	150;150;150	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	W	150	ENSP00000351039:G150W;ENSP00000357158:G150W;ENSP00000418130:G150W	ENSP00000351039:G150W	G	-	1	0	FCRL1	156038950	0.339000	0.24784	0.998000	0.56505	0.528000	0.34623	1.058000	0.30504	2.756000	0.94617	0.655000	0.94253	GGG		0.517	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		63	68	1	0	9.42754e-34	0.139131	1.27625e-33	63	68				
FAM78B	149297	broad.mit.edu	37	1	166135391	166135391	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:166135391G>T	ENST00000338353.3	-	2	684	c.95C>A	c.(94-96)aCg>aAg	p.T32K	RP11-9L18.3_ENST00000451784.1_RNA|FAM78B_ENST00000354422.3_Missense_Mutation_p.T32K			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	32										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					CTCGATGCGCGTGGGGCACTG	0.647																																							uc001gdr.2		NA																	0		p.T32T(1)		central_nervous_system(1)|skin(1)	2						c.(94-96)ACG>AAG		hypothetical protein LOC149297							79.0	56.0	64.0					1																	166135391		2202	4300	6502	SO:0001583	missense	149297							g.chr1:166135391G>T	AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.95C>A	1.37:g.166135391G>T	ENSP00000339681:p.Thr32Lys					FAM78B_uc010plc.1_RNA	p.T32K	NM_001017961	NP_001017961	Q5VT40	FA78B_HUMAN			2	685	-	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)		32					B7Z693	Missense_Mutation	SNP	ENST00000338353.3	37	c.95C>A	CCDS30931.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456417	0.84317	.	.	ENSG00000188859	ENST00000354422;ENST00000338353	.	.	.	4.29	4.29	0.51040	.	0.048583	0.85682	D	0.000000	T	0.71945	0.3400	M	0.72894	2.215	0.49299	D	0.999775	D	0.89917	1.0	D	0.81914	0.995	T	0.77167	-0.2687	8	0.87932	D	0	-17.9622	14.279	0.66199	0.0:0.0:1.0:0.0	.	32	Q5VT40	FA78B_HUMAN	K	32	.	ENSP00000339681:T32K	T	-	2	0	FAM78B	164402015	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.984000	0.93482	2.205000	0.71048	0.467000	0.42956	ACG		0.647	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343108.1	NM_001017961		5	14	1	0	8.12818e-05	0.02938	8.64978e-05	5	14				
DUSP27	92235	broad.mit.edu	37	1	167082975	167082975	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:167082975G>A	ENST00000361200.2	+	3	305	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	DUSP27_ENST00000443333.1_Missense_Mutation_p.E47K|DUSP27_ENST00000271385.5_Missense_Mutation_p.E47K			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	47					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TGCAGAAACAGAAAGCATTTT	0.428																																							uc001geb.1		NA																	0				ovary(3)	3						c.(139-141)GAA>AAA		dual specificity phosphatase 27							218.0	198.0	204.0					1																	167082975		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167082975G>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.139G>A	1.37:g.167082975G>A	ENSP00000354483:p.Glu47Lys						p.E47K	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			2	139	+			47					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.139G>A	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	35	5.438335	0.96168	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.04119	3.7;3.7;3.7	5.32	5.32	0.75619	.	0.086125	0.48286	D	0.000190	T	0.08891	0.0220	L	0.32530	0.975	0.50313	D	0.999869	D	0.76494	0.999	D	0.70487	0.969	T	0.14282	-1.0478	10	0.87932	D	0	-22.7971	17.5593	0.87901	0.0:0.0:1.0:0.0	.	47	Q5VZP5	DUS27_HUMAN	K	47	ENSP00000354483:E47K;ENSP00000271385:E47K;ENSP00000404874:E47K	ENSP00000271385:E47K	E	+	1	0	DUSP27	165349599	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.594000	0.90836	2.644000	0.89710	0.561000	0.74099	GAA		0.428	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		18	411	0	0	0	0.069288	0	18	411				
SUCO	51430	broad.mit.edu	37	1	172554999	172554999	+	Splice_Site	SNP	A	A	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:172554999A>T	ENST00000263688.3	+	17	1788	c.1569A>T	c.(1567-1569)ggA>ggT	p.G523G	SUCO_ENST00000608151.1_Splice_Site_p.G675G|SUCO_ENST00000610051.1_Splice_Site_p.G486G|SUCO_ENST00000367723.4_Splice_Site_p.G674G	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	523					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											TTAAAATAGGAAATAAAAGTA	0.343																																						Colon(43;174 953 11768 38880 47057)	uc001giq.3		NA																	0				ovary(2)	2						c.(1567-1569)GGA>GGT		chromosome 1 open reading frame 9 protein							123.0	139.0	133.0					1																	172554999		2203	4300	6503	SO:0001630	splice_region_variant	51430				multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane		g.chr1:172554999A>T	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.1568-1A>T	1.37:g.172554999A>T						C1orf9_uc010pmm.1_Silent_p.G523G|C1orf9_uc009wwd.2_Silent_p.G479G|C1orf9_uc010pmn.1_Silent_p.G486G|C1orf9_uc010pmo.1_Intron	p.G523G	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)	17	1885	+		Breast(1374;0.212)	523					B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Silent	SNP	ENST00000263688.3	37	c.1569A>T	CCDS1303.1																																																																																				0.343	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227	Silent	103	127	0	0	0	0.139131	0	103	127				
RNASEL	6041	broad.mit.edu	37	1	182553258	182553258	+	Silent	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:182553258G>T	ENST00000367559.3	-	3	1777	c.1524C>A	c.(1522-1524)atC>atA	p.I508I	RNASEL_ENST00000539397.1_Silent_p.I508I|RNASEL_ENST00000444138.1_Silent_p.I508I	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	508	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						CAGCCCACTTGATGCTCTTAT	0.393																																							uc001gpj.1		NA																	0				ovary(4)|stomach(1)	5						c.(1522-1524)ATC>ATA		ribonuclease L							138.0	141.0	140.0					1																	182553258		2203	4300	6503	SO:0001819	synonymous_variant	6041	Hereditary_Prostate_Cancer			mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding	g.chr1:182553258G>T	L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"""Ankyrin repeat domain containing"""	10050	protein-coding gene	gene with protein product		180435	"""prostate cancer 1"""	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.1524C>A	1.37:g.182553258G>T						RNASEL_uc009wxz.1_Silent_p.I508I|RNASEL_uc001gpk.2_Silent_p.I508I|RNASEL_uc009wya.1_Intron	p.I508I	NM_021133	NP_066956	Q05823	RN5A_HUMAN			2	1691	-			508			Protein kinase.		Q5W0L2|Q6AI46	Silent	SNP	ENST00000367559.3	37	c.1524C>A	CCDS1347.1																																																																																				0.393	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		28	107	1	0	6.00712e-18	0.163468	7.76245e-18	28	107				
CFHR1	3078	broad.mit.edu	37	1	196799682	196799682	+	Silent	SNP	T	T	C			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:196799682T>C	ENST00000320493.5	+	5	748	c.660T>C	c.(658-660)acT>acC	p.T220T	CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.4_Silent_p.T161T	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	220	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						GGGACATTACTTCATTCCCGT	0.398																																							uc001gtn.2		NA																	0					0						c.(658-660)ACT>ACC		complement factor H-related 1 precursor							80.0	94.0	90.0					1																	196799682		1874	4125	5999	SO:0001819	synonymous_variant	3078				complement activation	extracellular space		g.chr1:196799682T>C	M65292	CCDS1386.1	1q32	2014-09-17	2004-08-09	2006-02-28	ENSG00000244414	ENSG00000244414		"""Complement system"""	4888	protein-coding gene	gene with protein product		134371	"""H factor (complement)-like 1"", ""complement factor H-related 1 pseudogene"", ""H factor (complement)-like 2"""	HFL1, CFHL1, CFHR1P, HFL2, CFHL1P		1711047, 1826708	Standard	NM_002113		Approved	H36-1, FHR1, CFHL, H36-2		Q03591	OTTHUMG00000036276	ENST00000320493.5:c.660T>C	1.37:g.196799682T>C						CFHR1_uc001gtm.2_Silent_p.T124T	p.T220T	NM_002113	NP_002104	Q03591	FHR1_HUMAN			5	774	+			220			Sushi 4.		A8K465|Q3B774|Q9UJ17	Silent	SNP	ENST00000320493.5	37	c.660T>C	CCDS1386.1																																																																																				0.398	CFHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088251.2	NM_002113		64	79	0	0	0	0.139131	0	64	79				
CHI3L1	1116	broad.mit.edu	37	1	203154346	203154346	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:203154346T>A	ENST00000255409.3	-	3	348	c.223A>T	c.(223-225)Acg>Tcg	p.T75S		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	75					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to tumor necrosis factor (GO:0071356)|chitin catabolic process (GO:0006032)|inflammatory response (GO:0006954)|interleukin-8 secretion (GO:0072606)|lung development (GO:0030324)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase B signaling (GO:0051897)|response to interleukin-1 (GO:0070555)|response to interleukin-6 (GO:0070741)|response to mechanical stimulus (GO:0009612)|response to tumor necrosis factor (GO:0034612)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|extracellular matrix structural constituent (GO:0005201)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						CCGTAGAGCGTCACATCATTC	0.577																																							uc001gzi.2		NA																	0				pancreas(1)	1						c.(223-225)ACG>TCG		chitinase 3-like 1 precursor							150.0	140.0	143.0					1																	203154346		2203	4300	6503	SO:0001583	missense	1116				chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding	g.chr1:203154346T>A	BC008568	CCDS1435.1	1q32.1	2008-02-05			ENSG00000133048	ENSG00000133048			1932	protein-coding gene	gene with protein product		601525				8245017, 9244440	Standard	NM_001276		Approved	GP39, YKL40	uc001gzi.2	P36222	OTTHUMG00000042122	ENST00000255409.3:c.223A>T	1.37:g.203154346T>A	ENSP00000255409:p.Thr75Ser					FMOD_uc010pqi.1_Intron|CHI3L1_uc001gzj.2_Missense_Mutation_p.T75S	p.T75S	NM_001276	NP_001267	P36222	CH3L1_HUMAN			3	394	-			75					B2R7B0|P30923|Q8IVA4|Q96HI7	Missense_Mutation	SNP	ENST00000255409.3	37	c.223A>T	CCDS1435.1	.	.	.	.	.	.	.	.	.	.	T	12.43	1.935166	0.34189	.	.	ENSG00000133048	ENST00000255409	T	0.28666	1.6	5.35	2.93	0.34026	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.230459	0.30193	N	0.010194	T	0.19525	0.0469	N	0.25332	0.735	0.21020	N	0.99981	B	0.12013	0.005	B	0.08055	0.003	T	0.17018	-1.0383	10	0.30854	T	0.27	-13.2599	9.3715	0.38256	0.3:0.0:0.0:0.7	.	75	P36222	CH3L1_HUMAN	S	75	ENSP00000255409:T75S	ENSP00000255409:T75S	T	-	1	0	CHI3L1	201420969	0.001000	0.12720	0.057000	0.19452	0.956000	0.61745	0.193000	0.17116	0.361000	0.24292	0.533000	0.62120	ACG		0.577	CHI3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100265.1	NM_001276		12	132	0	0	0	0.132662	0	12	132				
OPTC	26254	broad.mit.edu	37	1	203472695	203472695	+	Silent	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:203472695C>A	ENST00000367222.2	+	7	962	c.846C>A	c.(844-846)acC>acA	p.T282T		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	282					negative regulation of angiogenesis (GO:0016525)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			TGATAGAGACCATGCAGAGAG	0.557																																							uc001gzu.1		NA																	0					0						c.(844-846)ACC>ACA		opticin precursor							103.0	97.0	99.0					1																	203472695		2203	4300	6503	SO:0001819	synonymous_variant	26254					proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr1:203472695C>A	AF161702	CCDS1439.1	1q31	2008-02-05			ENSG00000188770	ENSG00000188770			8158	protein-coding gene	gene with protein product	"""oculoglycan"""	605127				10636917	Standard	NM_014359		Approved		uc001gzu.1	Q9UBM4	OTTHUMG00000036100	ENST00000367222.2:c.846C>A	1.37:g.203472695C>A							p.T282T	NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		7	962	+			282			LRR 5.		Q5T2G4	Silent	SNP	ENST00000367222.2	37	c.846C>A	CCDS1439.1																																																																																				0.557	OPTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087964.1	NM_014359		42	66	1	0	1.6237e-14	0.131918	2.01947e-14	42	66				
ANGEL2	90806	broad.mit.edu	37	1	213186478	213186478	+	Silent	SNP	G	G	A	rs138048743		TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:213186478G>A	ENST00000366962.3	-	2	496	c.342C>T	c.(340-342)aaC>aaT	p.N114N	ANGEL2_ENST00000544555.1_Intron|ANGEL2_ENST00000535388.1_Intron|ANGEL2_ENST00000540642.1_Intron|ANGEL2_ENST00000360506.2_Intron	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	114										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CTCCCTCAGCGTTCATGACGT	0.403																																							uc001hjz.2		NA																	0					0						c.(340-342)AAC>AAT		LOC90806 protein		G		1,4405	2.1+/-5.4	0,1,2202	134.0	132.0	132.0		342	2.3	1.0	1	dbSNP_134	132	0,8600		0,0,4300	no	coding-synonymous	ANGEL2	NM_144567.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		114/545	213186478	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	90806							g.chr1:213186478G>A	AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.342C>T	1.37:g.213186478G>A						ANGEL2_uc010pto.1_Intron|ANGEL2_uc010ptp.1_Intron|ANGEL2_uc001hka.2_Intron|ANGEL2_uc010ptq.1_Intron|ANGEL2_uc001hkb.2_Silent_p.N92N	p.N114N	NM_144567	NP_653168	Q5VTE6	ANGE2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)	2	497	-			114					B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Silent	SNP	ENST00000366962.3	37	c.342C>T	CCDS1512.1																																																																																				0.403	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567		31	101	0	0	0	0.214465	0	31	101				
PROX1	5629	broad.mit.edu	37	1	214170908	214170908	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:214170908G>C	ENST00000366958.4	+	2	1638	c.1030G>C	c.(1030-1032)Gaa>Caa	p.E344Q	PROX1_ENST00000498508.2_Missense_Mutation_p.E344Q|PROX1_ENST00000261454.4_Missense_Mutation_p.E344Q|PROX1_ENST00000435016.1_Missense_Mutation_p.E344Q	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	344					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CTTACAACCGGAAGGCAAACA	0.512																																							uc001hkh.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(1030-1032)GAA>CAA		prospero homeobox 1							113.0	110.0	111.0					1																	214170908		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214170908G>C	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1030G>C	1.37:g.214170908G>C	ENSP00000355925:p.Glu344Gln					PROX1_uc001hkg.1_Missense_Mutation_p.E344Q	p.E344Q	NM_002763	NP_002754	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1302	+			344					A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.1030G>C	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.014526	0.54468	.	.	ENSG00000117707	ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.50277	0.76;0.75;0.76;0.76	5.49	5.49	0.81192	.	0.046173	0.85682	D	0.000000	T	0.63343	0.2503	M	0.66939	2.045	0.58432	D	0.999999	D	0.58268	0.982	P	0.56865	0.808	T	0.59984	-0.7351	10	0.33940	T	0.23	-4.296	19.3843	0.94550	0.0:0.0:1.0:0.0	.	344	Q92786	PROX1_HUMAN	Q	344	ENSP00000420283:E344Q;ENSP00000355925:E344Q;ENSP00000400694:E344Q;ENSP00000261454:E344Q	ENSP00000261454:E344Q	E	+	1	0	PROX1	212237531	1.000000	0.71417	0.957000	0.39632	0.888000	0.51559	8.062000	0.89475	2.574000	0.86865	0.563000	0.77884	GAA		0.512	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		20	63	0	0	0	0.234183	0	20	63				
CHRM3	1131	broad.mit.edu	37	1	240070927	240070927	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:240070927C>A	ENST00000255380.4	+	5	955	c.176C>A	c.(175-177)cCt>cAt	p.P59H		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	59					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	ACCGATGACCCTCTGGGAGGT	0.552																																							uc001hyp.2		NA																	0				ovary(4)|skin(1)	5						c.(175-177)CCT>CAT		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						115.0	104.0	108.0					1																	240070927		2203	4300	6503	SO:0001583	missense	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240070927C>A	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.176C>A	1.37:g.240070927C>A	ENSP00000255380:p.Pro59His						p.P59H	NM_000740	NP_000731	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	955	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	59			Extracellular (By similarity).		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	c.176C>A	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515657	0.44763	.	.	ENSG00000133019	ENST00000255380;ENST00000448020	T;T	0.37411	1.2;1.2	5.6	5.6	0.85130	.	0.119178	0.64402	D	0.000019	T	0.33381	0.0861	L	0.60455	1.87	0.58432	D	0.999998	P	0.41643	0.758	B	0.33690	0.168	T	0.16660	-1.0395	10	0.45353	T	0.12	-15.2296	14.7822	0.69774	0.1442:0.8558:0.0:0.0	.	59	P20309	ACM3_HUMAN	H	59	ENSP00000255380:P59H;ENSP00000404764:P59H	ENSP00000255380:P59H	P	+	2	0	CHRM3	238137550	1.000000	0.71417	0.976000	0.42696	0.934000	0.57294	5.890000	0.69774	2.788000	0.95919	0.650000	0.86243	CCT		0.552	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		40	26	1	0	1.76056e-25	0.124865	2.3202e-25	40	26				
OR2T6	254879	broad.mit.edu	37	1	248551197	248551197	+	Silent	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:248551197C>A	ENST00000355728.2	+	1	288	c.288C>A	c.(286-288)gcC>gcA	p.A96A		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A96E(1)|p.A96A(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	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)			CTTTCATCGCCTGCACTGCTC	0.532																																							uc001iei.1		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(2)|skin(1)	3						c.(286-288)GCC>GCA		olfactory receptor, family 2, subfamily T,							129.0	123.0	125.0					1																	248551197		2203	4300	6503	SO:0001819	synonymous_variant	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551197C>A	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.288C>A	1.37:g.248551197C>A							p.A96A	NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	288	+	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)		96			Extracellular (Potential).		A6NE36	Silent	SNP	ENST00000355728.2	37	c.288C>A	CCDS31114.1																																																																																				0.532	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		60	34	1	0	1.17004e-41	0.139131	1.59479e-41	60	34				
CAMK1D	57118	broad.mit.edu	37	10	12833187	12833187	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr10:12833187G>A	ENST00000378847.3	+	6	933	c.596G>A	c.(595-597)aGc>aAc	p.S199N	CAMK1D_ENST00000378845.1_Missense_Mutation_p.S199N	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	199	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		AAACCTTACAGCAAAGCCGTT	0.488																																							uc001ilo.2		NA																	0				ovary(1)|stomach(1)	2						c.(595-597)AGC>AAC		calcium/calmodulin-dependent protein kinase ID							199.0	177.0	185.0					10																	12833187		2203	4300	6503	SO:0001583	missense	57118					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr10:12833187G>A	AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.596G>A	10.37:g.12833187G>A	ENSP00000368124:p.Ser199Asn					CAMK1D_uc001iln.2_Missense_Mutation_p.S199N	p.S199N	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN		GBM - Glioblastoma multiforme(1;3.16e-05)	6	831	+			199			Protein kinase.		B0YIY0|Q9HD31	Missense_Mutation	SNP	ENST00000378847.3	37	c.596G>A	CCDS7091.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.435356	0.62955	.	.	ENSG00000183049	ENST00000378847;ENST00000378845	T;T	0.42513	0.97;0.97	5.42	5.42	0.78866	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.29976	0.0750	N	0.10837	0.055	0.80722	D	1	B;B	0.14012	0.009;0.002	B;B	0.24006	0.05;0.008	T	0.12451	-1.0547	10	0.72032	D	0.01	-19.4985	17.0575	0.86539	0.0:0.0:1.0:0.0	.	199;199	Q8IU85;Q5SQQ7	KCC1D_HUMAN;.	N	199	ENSP00000368124:S199N;ENSP00000368122:S199N	ENSP00000368122:S199N	S	+	2	0	CAMK1D	12873193	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	8.951000	0.93025	2.685000	0.91497	0.655000	0.94253	AGC		0.488	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	NM_020397		27	71	0	0	0	0.125774	0	27	71				
TRDMT1	1787	broad.mit.edu	37	10	17204237	17204237	+	Splice_Site	SNP	C	C	G			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr10:17204237C>G	ENST00000377799.3	-	4	299		c.e4-1		TRDMT1_ENST00000377766.5_Intron|TRDMT1_ENST00000351358.4_Intron|TRDMT1_ENST00000358282.7_Intron|TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000412821.3_Intron|TRDMT1_ENST00000457442.2_Splice_Site|TRDMT1_ENST00000452380.2_Splice_Site	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1						C-5 methylation of cytosine (GO:0090116)|response to amphetamine (GO:0001975)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|tRNA methyltransferase activity (GO:0008175)			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18					Pentamidine(DB00738)	CCGGCCAATCCTAAAGGGGTa	0.318																																							uc001iop.2		NA																	0				ovary(1)	1						c.e4-1		tRNA aspartic acid methyltransferase 1 isoform							73.0	78.0	76.0					10																	17204237		2203	4299	6502	SO:0001630	splice_region_variant	1787				tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding	g.chr10:17204237C>G	AJ223333	CCDS7114.1	10p15.1	2006-10-23	2006-10-23	2006-10-23	ENSG00000107614	ENSG00000107614	2.1.1.37		2977	protein-coding gene	gene with protein product		602478	"""DNA (cytosine-5-)-methyltransferase 2"""	DNMT2		9425235, 9763678, 16424344	Standard	NM_004412		Approved	RNMT1	uc001iop.3	O14717	OTTHUMG00000017745	ENST00000377799.3:c.252-1G>C	10.37:g.17204237C>G						TRDMT1_uc001ioq.2_Intron|TRDMT1_uc001ior.2_Intron|TRDMT1_uc001ios.2_Splice_Site_p.R13_splice|TRDMT1_uc009xjt.2_Splice_Site_p.K25_splice|TRDMT1_uc010qcc.1_Splice_Site_p.R13_splice|TRDMT1_uc010qcd.1_Intron|TRDMT1_uc009xjs.1_Intron|TRDMT1_uc009xju.1_Intron	p.R84_splice	NM_004412	NP_004403	O14717	TRDMT_HUMAN			4	300	-								B0YJ02|B0YJ03|B0YJ07|B0YJ08|O43669|Q86WW6	Splice_Site	SNP	ENST00000377799.3	37	c.252_splice	CCDS7114.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132856	0.56828	.	.	ENSG00000107614	ENST00000377799;ENST00000457442	.	.	.	6.07	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8999	0.86110	0.0:0.8722:0.1278:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRDMT1	17244243	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	5.220000	0.65267	2.885000	0.99019	0.655000	0.94253	.		0.318	TRDMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047024.3	NM_004412	Intron	21	50	0	0	0	0.069288	0	21	50				
IPMK	253430	broad.mit.edu	37	10	59955896	59955896	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr10:59955896C>T	ENST00000373935.3	-	6	1514	c.1192G>A	c.(1192-1194)Gga>Aga	p.G398R		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	398					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|neural tube formation (GO:0001841)|small molecule metabolic process (GO:0044281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol tetrakisphosphate 3-kinase activity (GO:0000824)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)|inositol-1,4,5-trisphosphate 6-kinase activity (GO:0000823)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						TAAACATATCCCTCATCTATT	0.388																																							uc001jkb.2		NA																	0				ovary(1)	1						c.(1192-1194)GGA>AGA		inositol polyphosphate multikinase							101.0	100.0	100.0					10																	59955896		2203	4300	6503	SO:0001583	missense	253430					nucleus	ATP binding|inositol trisphosphate 6-kinase activity	g.chr10:59955896C>T	AF432853	CCDS7250.1	10q21.1	2010-11-29		2004-07-22	ENSG00000151151	ENSG00000151151			20739	protein-coding gene	gene with protein product		609851				12223481, 12027805	Standard	NM_152230		Approved		uc001jkb.3	Q8NFU5	OTTHUMG00000018268	ENST00000373935.3:c.1192G>A	10.37:g.59955896C>T	ENSP00000363046:p.Gly398Arg						p.G398R	NM_152230	NP_689416	Q8NFU5	IPMK_HUMAN			6	1515	-			398						Missense_Mutation	SNP	ENST00000373935.3	37	c.1192G>A	CCDS7250.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.642260	0.67244	.	.	ENSG00000151151	ENST00000373935	T	0.25912	1.77	6.07	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.45637	0.1352	M	0.62723	1.935	0.45150	D	0.998165	D	0.89917	1.0	D	0.80764	0.994	T	0.36212	-0.9757	9	.	.	.	-4.7893	11.196	0.48713	0.0:0.9165:0.0:0.0835	.	398	Q8NFU5	IPMK_HUMAN	R	398	ENSP00000363046:G398R	.	G	-	1	0	IPMK	59625902	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.589000	0.74080	1.588000	0.49971	0.585000	0.79938	GGA		0.388	IPMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048142.1	NM_152230		20	86	0	0	0	0.219247	0	20	86				
MYPN	84665	broad.mit.edu	37	10	69934049	69934049	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr10:69934049G>A	ENST00000358913.5	+	11	2688	c.2200G>A	c.(2200-2202)Gca>Aca	p.A734T	MYPN_ENST00000354393.2_Missense_Mutation_p.A459T|MYPN_ENST00000540630.1_Missense_Mutation_p.A734T	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	734					sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GAACACCACCGCAGCAACTGT	0.542																																							uc001jnm.3		NA																	0				ovary(3)|skin(2)	5						c.(2200-2202)GCA>ACA		myopalladin							105.0	109.0	108.0					10																	69934049		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69934049G>A	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.2200G>A	10.37:g.69934049G>A	ENSP00000351790:p.Ala734Thr					MYPN_uc001jnn.3_Missense_Mutation_p.A459T|MYPN_uc001jno.3_Missense_Mutation_p.A734T|MYPN_uc009xpt.2_Missense_Mutation_p.A734T|MYPN_uc010qit.1_Missense_Mutation_p.A440T|MYPN_uc010qiu.1_RNA	p.A734T	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN			12	2385	+			734					Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.2200G>A	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	G	4.949	0.176381	0.09443	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.57595	0.39;0.47;0.45	5.43	-9.02	0.00741	.	1.321840	0.04759	N	0.425887	T	0.17534	0.0421	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.0	T	0.09618	-1.0666	9	.	.	.	.	3.7445	0.08542	0.3888:0.3299:0.1981:0.0831	.	734;459;734	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	T	459;459;734;734	ENSP00000346369:A459T;ENSP00000351790:A734T;ENSP00000441668:A734T	.	A	+	1	0	MYPN	69604055	0.000000	0.05858	0.000000	0.03702	0.214000	0.24535	-1.556000	0.02168	-1.295000	0.02357	0.655000	0.94253	GCA		0.542	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		8	169	0	0	0	0.047766	0	8	169				
DNA2	1763	broad.mit.edu	37	10	70225496	70225496	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr10:70225496T>A	ENST00000358410.3	-	4	565	c.515A>T	c.(514-516)aAt>aTt	p.N172I	DNA2_ENST00000399180.2_Missense_Mutation_p.N258I|DNA2_ENST00000399179.2_Missense_Mutation_p.N172I	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	172	Nuclease activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						GGCAAAGCTATTATTTATGGC	0.368																																							uc001jof.2		NA																	0					0						c.(772-774)AAT>ATT		DNA replication helicase 2 homolog							68.0	64.0	66.0					10																	70225496		1818	4086	5904	SO:0001583	missense	1763				base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base	g.chr10:70225496T>A	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.515A>T	10.37:g.70225496T>A	ENSP00000351185:p.Asn172Ile					DNA2_uc001jog.1_Missense_Mutation_p.N172I|DNA2_uc001joh.1_RNA	p.N258I	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN			4	773	-			172					Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	ENST00000358410.3	37	c.773A>T		.	.	.	.	.	.	.	.	.	.	T	11.90	1.777025	0.31411	.	.	ENSG00000138346	ENST00000551118;ENST00000399180;ENST00000399179;ENST00000358410	D;D;D	0.94376	-2.91;-3.41;-2.89	5.8	4.68	0.58851	DNA replication factor Dna2 (1);	0.608614	0.17518	N	0.171378	D	0.92014	0.7470	M	0.74467	2.265	0.09310	N	1	B;B	0.27117	0.168;0.148	B;B	0.30495	0.116;0.116	D	0.84734	0.0747	10	0.41790	T	0.15	.	8.5908	0.33686	0.0:0.1479:0.0:0.8521	.	172;172	F8VR31;P51530	.;DNA2L_HUMAN	I	172;258;172;172	ENSP00000382133:N258I;ENSP00000382132:N172I;ENSP00000351185:N172I	ENSP00000351185:N172I	N	-	2	0	DNA2	69895502	0.434000	0.25570	0.184000	0.23157	0.741000	0.42261	1.500000	0.35682	1.036000	0.39998	0.477000	0.44152	AAT		0.368	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			6	12	0	0	0	0.02938	0	6	12				
PAPSS2	9060	broad.mit.edu	37	10	89475540	89475540	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr10:89475540A>C	ENST00000361175.4	+	7	1174	c.805A>C	c.(805-807)Aaa>Caa	p.K269Q	PAPSS2_ENST00000456849.1_Missense_Mutation_p.K269Q|PAPSS2_ENST00000427144.2_Missense_Mutation_p.K273Q	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	269					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CACTCCCCTCAAAGGTTTCAT	0.433																																							uc001kex.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(805-807)AAA>CAA		3'-phosphoadenosine 5'-phosphosulfate synthase 2							133.0	125.0	128.0					10																	89475540		2203	4300	6503	SO:0001583	missense	9060				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity	g.chr10:89475540A>C	AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.805A>C	10.37:g.89475540A>C	ENSP00000354436:p.Lys269Gln					PAPSS2_uc001kew.2_Missense_Mutation_p.K269Q|PAPSS2_uc009xtg.1_RNA	p.K269Q	NM_004670	NP_004661	O95340	PAPS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)	7	1068	+		Melanoma(5;0.019)|Colorectal(252;0.123)	269			Adenylyl-sulfate kinase.		Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	ENST00000361175.4	37	c.805A>C	CCDS7385.1	.	.	.	.	.	.	.	.	.	.	A	17.49	3.401685	0.62288	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.24151	1.87;1.87;1.87	5.44	4.29	0.51040	Sulphate adenylyltransferase (1);PUA-like domain (1);	0.138249	0.64402	D	0.000003	T	0.37945	0.1022	M	0.79011	2.435	0.45690	D	0.9986	B;B	0.23058	0.079;0.059	B;B	0.36766	0.232;0.098	T	0.24048	-1.0171	10	0.54805	T	0.06	-14.7	12.63	0.56651	0.8616:0.1384:0.0:0.0	.	269;269	O95340;O95340-2	PAPS2_HUMAN;.	Q	269;269;273;268	ENSP00000354436:K269Q;ENSP00000406157:K269Q;ENSP00000397123:K273Q	ENSP00000354436:K269Q	K	+	1	0	PAPSS2	89465520	1.000000	0.71417	0.957000	0.39632	0.984000	0.73092	5.867000	0.69597	0.875000	0.35847	0.459000	0.35465	AAA		0.433	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1			21	51	0	0	0	0.099896	0	21	51				
TACC2	10579	broad.mit.edu	37	10	124013514	124013514	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr10:124013514A>C	ENST00000369005.1	+	23	9130	c.8790A>C	c.(8788-8790)gaA>gaC	p.E2930D	TACC2_ENST00000360561.3_Missense_Mutation_p.E978D|TACC2_ENST00000368999.1_Missense_Mutation_p.E1020D|TACC2_ENST00000515273.1_Missense_Mutation_p.E2857D|TACC2_ENST00000513429.1_Missense_Mutation_p.E1076D|TACC2_ENST00000453444.2_Missense_Mutation_p.E2857D|TACC2_ENST00000369001.1_Missense_Mutation_p.E557D|TACC2_ENST00000358010.1_Missense_Mutation_p.E1076D|TACC2_ENST00000260733.3_Missense_Mutation_p.E1008D|TACC2_ENST00000369004.3_Missense_Mutation_p.E990D|TACC2_ENST00000515603.1_Missense_Mutation_p.E2808D|TACC2_ENST00000334433.3_Missense_Mutation_p.E2930D|TACC2_ENST00000369000.1_Missense_Mutation_p.E553D	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2930					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGAATAAAGAAATAGAAGAAC	0.433																																							uc001lfv.2		NA																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(8788-8790)GAA>GAC		transforming, acidic coiled-coil containing							98.0	100.0	99.0					10																	124013514		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:124013514A>C	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.8790A>C	10.37:g.124013514A>C	ENSP00000358001:p.Glu2930Asp					TACC2_uc001lfw.2_Missense_Mutation_p.E1076D|TACC2_uc009xzx.2_Missense_Mutation_p.E2808D|TACC2_uc010qtv.1_Missense_Mutation_p.E2857D|TACC2_uc001lfx.2_Missense_Mutation_p.E557D|TACC2_uc001lfy.2_Missense_Mutation_p.E553D|TACC2_uc001lfz.2_Missense_Mutation_p.E1008D|TACC2_uc001lga.2_Missense_Mutation_p.E978D|TACC2_uc009xzy.2_Missense_Mutation_p.E990D|TACC2_uc001lgb.2_Missense_Mutation_p.E888D	p.E2930D	NM_206862	NP_996744	O95359	TACC2_HUMAN			23	9150	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2930			Potential.		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.8790A>C	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.972329	0.53614	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733	T;T;T;T;T;T;T;T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	6.06	3.99	0.46301	.	0.000000	0.35151	N	0.003402	T	0.78355	0.4270	M	0.71581	2.175	0.46298	D	0.998979	D;D;D;D;D;P;D;D;D	0.89917	0.998;0.998;1.0;0.999;1.0;0.895;0.999;0.959;1.0	D;D;D;D;D;P;D;D;D	0.91635	0.998;0.996;0.999;0.997;0.999;0.876;0.992;0.94;0.999	T	0.79704	-0.1692	10	0.66056	D	0.02	-26.6116	9.9868	0.41846	0.2532:0.0:0.7468:0.0	.	2857;990;2808;2857;978;1008;553;1076;2930	E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-2;O95359-5;O95359	.;.;.;.;.;.;.;.;TACC2_HUMAN	D	2930;1076;2857;2808;2930;1076;2857;2843;557;553;978;1020;990;1008	ENSP00000358001:E2930D;ENSP00000425062:E1076D;ENSP00000424467:E2857D;ENSP00000427618:E2808D;ENSP00000334280:E2930D;ENSP00000350701:E1076D;ENSP00000395048:E2857D;ENSP00000357997:E557D;ENSP00000357996:E553D;ENSP00000353763:E978D;ENSP00000357995:E1020D;ENSP00000422815:E990D;ENSP00000260733:E1008D	ENSP00000260733:E1008D	E	+	3	2	TACC2	124003504	1.000000	0.71417	1.000000	0.80357	0.554000	0.35429	2.066000	0.41452	1.540000	0.49301	-0.242000	0.12053	GAA		0.433	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			13	44	0	0	0	0.11911	0	13	44				
DMBT1	1755	broad.mit.edu	37	10	124333279	124333279	+	Splice_Site	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr10:124333279G>A	ENST00000338354.3	+	6	389		c.e6+1		DMBT1_ENST00000368956.2_Splice_Site|DMBT1_ENST00000330163.4_Splice_Site|DMBT1_ENST00000368909.3_Splice_Site|DMBT1_ENST00000344338.3_Splice_Site|DMBT1_ENST00000368955.3_Splice_Site|DMBT1_ENST00000359586.6_Splice_Site			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1						defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTAGCAGAAGGTAACGTCTAC	0.527																																					Ovarian(182;93 2026 18125 22222 38972)	Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1		NA																	0				central_nervous_system(7)	7						c.e6+1		deleted in malignant brain tumors 1 isoform b							168.0	166.0	167.0					10																	124333279		1892	4111	6003	SO:0001630	splice_region_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124333279G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.283+1G>A	10.37:g.124333279G>A						DMBT1_uc001lgl.1_Splice_Site_p.G95_splice|DMBT1_uc001lgm.1_Splice_Site_p.G95_splice|DMBT1_uc009xzz.1_Splice_Site_p.G95_splice|DMBT1_uc010qtx.1_Splice_Site_p.G95_splice|DMBT1_uc009yaa.1_Splice_Site	p.G95_splice	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			6	389	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)						A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Splice_Site	SNP	ENST00000338354.3	37	c.283_splice		.	.	.	.	.	.	.	.	.	.	G	6.236	0.411655	0.11812	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	.	.	.	3.13	1.27	0.21489	.	.	.	.	.	.	.	.	.	.	.	0.31902	N	0.615791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.1777	0.15143	0.2756:0.0:0.7244:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DMBT1	124323269	0.997000	0.39634	0.274000	0.24659	0.013000	0.08279	1.306000	0.33505	0.366000	0.24427	-0.136000	0.14681	.		0.527	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406	Intron	35	104	0	0	0	0.225048	0	35	104				
MPPED2	744	broad.mit.edu	37	11	30433051	30433051	+	Silent	SNP	T	T	G			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr11:30433051T>G	ENST00000358117.5	-	6	971	c.849A>C	c.(847-849)ccA>ccC	p.P283P	MPPED2_ENST00000448418.2_Intron|MPPED2_ENST00000524667.1_5'UTR	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	283					nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						CAAATATAATTGGAGGGTTGG	0.453																																							uc001msr.2		NA																	0				skin(1)	1						c.(847-849)CCA>CCC		metallophosphoesterase domain containing 2							122.0	101.0	108.0					11																	30433051		2202	4299	6501	SO:0001819	synonymous_variant	744				nervous system development		hydrolase activity|metal ion binding	g.chr11:30433051T>G	U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"""chromosome 11 open reading frame 8"""	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000358117.5:c.849A>C	11.37:g.30433051T>G						MPPED2_uc001msq.3_Intron|MPPED2_uc009yji.2_Silent_p.P157P	p.P283P	NM_001584	NP_001575	Q15777	MPPD2_HUMAN			6	969	-			283					D3DQZ5|E9PB10|Q59GE6	Silent	SNP	ENST00000358117.5	37	c.849A>C	CCDS7870.1																																																																																				0.453	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388155.2	NM_001584		23	22	0	0	0	0.0918	0	23	22				
LMO2	4005	broad.mit.edu	37	11	33886309	33886309	+	Silent	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr11:33886309G>A	ENST00000395833.3	-	2	525	c.96C>T	c.(94-96)ggC>ggT	p.G32G	LMO2_ENST00000257818.2_Silent_p.G101G	NM_001142315.1|NM_001142316.1	NP_001135787.1|NP_001135788.1	P25791	RBTN2_HUMAN	LIM domain only 2 (rhombotin-like 1)	32	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cellular response to thyroid hormone stimulus (GO:0097067)|embryonic hemopoiesis (GO:0035162)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|cofactor binding (GO:0048037)|E-box binding (GO:0070888)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						TCTGCTGGCAGCCGCCGCATG	0.627			T	TRD@	T-ALL																																		uc001mve.2		NA		Dom	yes		11	11p13	4005	T	LIM domain only 2 (rhombotin-like 1) (RBTN2)			L	TRD@		T-ALL		0				lung(1)	1						c.(94-96)GGC>GGT		LIM domain only 2 isoform 2							60.0	52.0	55.0					11																	33886309		2202	4298	6500	SO:0001819	synonymous_variant	4005				multicellular organismal development	nucleus	protein binding|zinc ion binding	g.chr11:33886309G>A	X61118	CCDS7888.2, CCDS44567.1	11p13	2008-07-18			ENSG00000135363	ENSG00000135363			6642	protein-coding gene	gene with protein product	"""T-cell translocation gene 2"", ""rhombotin-like 1"""	180385		RBTNL1		2034676	Standard	NM_005574		Approved	TTG2, RHOM2, RBTN2	uc010rem.2	P25791	OTTHUMG00000157176	ENST00000395833.3:c.96C>T	11.37:g.33886309G>A						LMO2_uc001mvc.2_Silent_p.G25G|LMO2_uc001mvd.2_Silent_p.G25G|LMO2_uc010rel.1_Silent_p.G32G|LMO2_uc010rem.1_Silent_p.G101G	p.G32G	NM_001142316	NP_001135788	P25791	RBTN2_HUMAN			2	535	-			32			LIM zinc-binding 1.		Q9HD58	Silent	SNP	ENST00000395833.3	37	c.96C>T	CCDS44567.1																																																																																				0.627	LMO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347777.1	NM_005574		29	30	0	0	0	0.225048	0	29	30				
OR8J3	81168	broad.mit.edu	37	11	55904276	55904276	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr11:55904276T>A	ENST00000301529.1	-	1	918	c.919A>T	c.(919-921)Aat>Tat	p.N307Y		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TAACATGGATTTTCCATGAAT	0.323																																							uc010riz.1		NA																	0				skin(2)	2						c.(919-921)AAT>TAT		olfactory receptor, family 8, subfamily J,							65.0	65.0	65.0					11																	55904276		2200	4295	6495	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904276T>A		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.919A>T	11.37:g.55904276T>A	ENSP00000301529:p.Asn307Tyr						p.N307Y	NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN			1	919	-	Esophageal squamous(21;0.00693)		307			Cytoplasmic (Potential).		Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.919A>T	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	T	11.98	1.799462	0.31869	.	.	ENSG00000167822	ENST00000301529	T	0.37058	1.22	3.27	3.27	0.37495	.	0.265925	0.32640	N	0.005826	T	0.31606	0.0802	L	0.42744	1.35	0.09310	N	1	P	0.38370	0.628	B	0.42188	0.379	T	0.18745	-1.0327	10	0.66056	D	0.02	.	6.7492	0.23477	0.0:0.0:0.2411:0.7589	.	307	Q8NGG0	OR8J3_HUMAN	Y	307	ENSP00000301529:N307Y	ENSP00000301529:N307Y	N	-	1	0	OR8J3	55660852	0.146000	0.22672	0.021000	0.16686	0.141000	0.21300	3.026000	0.49689	1.272000	0.44329	0.247000	0.18012	AAT		0.323	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		4	42	0	0	0	0.150653	0	4	42				
OR9G4	283189	broad.mit.edu	37	11	56510879	56510879	+	Missense_Mutation	SNP	G	G	T	rs199908718	byFrequency	TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr11:56510879G>T	ENST00000302957.3	-	1	408	c.409C>A	c.(409-411)Cgc>Agc	p.R137S		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GCTGCATGGCGGTCATATGCC	0.488																																							uc010rjo.1		NA																	0				ovary(2)|skin(1)	3						c.(409-411)CGC>AGC		olfactory receptor, family 9, subfamily G,							117.0	120.0	119.0					11																	56510879		2201	4296	6497	SO:0001583	missense	283189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56510879G>T	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"""GPCR / Class A : Olfactory receptors"""	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.409C>A	11.37:g.56510879G>T	ENSP00000307515:p.Arg137Ser						p.R137S	NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN			1	409	-			137			Cytoplasmic (Potential).		Q6IF62|Q96RA9	Missense_Mutation	SNP	ENST00000302957.3	37	c.409C>A	CCDS31537.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.349341	0.24426	.	.	ENSG00000172457	ENST00000302957	T	0.77620	-1.11	4.96	3.1	0.35709	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39834	N	0.001252	T	0.82250	0.4996	H	0.97340	3.985	0.34805	D	0.737105	P	0.41524	0.753	B	0.37692	0.256	D	0.85460	0.1166	10	0.87932	D	0	-10.1556	5.7696	0.18245	0.1635:0.0:0.6822:0.1542	.	137	Q8NGQ1	OR9G4_HUMAN	S	137	ENSP00000307515:R137S	ENSP00000307515:R137S	R	-	1	0	OR9G4	56267455	0.779000	0.28652	0.933000	0.37362	0.294000	0.27393	0.695000	0.25527	0.701000	0.31803	-0.134000	0.14843	CGC		0.488	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		28	102	1	0	1.36615e-20	0.173368	1.77688e-20	28	102				
CYB561A3	220002	broad.mit.edu	37	11	61124140	61124140	+	Silent	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr11:61124140G>A	ENST00000294072.4	-	3	723	c.46C>T	c.(46-48)Ctg>Ttg	p.L16L	CYB561A3_ENST00000447532.2_Silent_p.L16L|CYB561A3_ENST00000426130.2_Silent_p.L33L|CYB561A3_ENST00000536915.1_Silent_p.L16L|CYB561A3_ENST00000546151.1_Silent_p.L16L|CYB561A3_ENST00000544118.1_Silent_p.L16L|CYB561A3_ENST00000540317.1_Intron|CYB561A3_ENST00000539890.1_Silent_p.L16L	NM_001161452.1|NM_153611.4	NP_001154924.1|NP_705839.3	Q8NBI2	CYAC3_HUMAN	cytochrome b561 family, member A3	16	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.					integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)										ATAGAGCCCAGGGACCCCAGC	0.527																																							uc001nrf.3		NA																	0					0						c.(46-48)CTG>TTG		cytochrome b, ascorbate dependent 3 isoform 2							151.0	140.0	144.0					11																	61124140		2203	4299	6502	SO:0001819	synonymous_variant	220002				electron transport chain|transport	integral to membrane|late endosome membrane|lysosomal membrane	metal ion binding|oxidoreductase activity	g.chr11:61124140G>A	AK024953	CCDS8004.1, CCDS53639.1, CCDS73296.1	11q12.2	2013-03-14	2013-03-14	2013-03-14		ENSG00000162144		"""Cytochrome b genes"""	23014	protein-coding gene	gene with protein product			"""cytochrome b, ascorbate dependent 3"""	CYBASC3		23249217	Standard	NM_153611		Approved		uc001nrf.4	Q8NBI2		ENST00000294072.4:c.46C>T	11.37:g.61124140G>A						CYBASC3_uc010rlh.1_Silent_p.L33L|CYBASC3_uc001nrg.2_Silent_p.L16L|CYBASC3_uc009ynn.2_RNA|CYBASC3_uc001nrh.2_Silent_p.L16L|CYBASC3_uc001nri.2_Intron|CYBASC3_uc009yno.2_Silent_p.L16L	p.L16L	NM_001161452	NP_001154924	Q8NBI2	CYAC3_HUMAN			1	222	-			16			Cytochrome b561.|Helical; Name=1; (Potential).		B3KPU2|B4DLN9|J3KQH4|Q6PK96	Silent	SNP	ENST00000294072.4	37	c.46C>T	CCDS8004.1																																																																																				0.527	CYB561A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398714.2	NM_153611		6	79	0	0	0	0.047766	0	6	79				
NXF1	10482	broad.mit.edu	37	11	62571439	62571439	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr11:62571439C>G	ENST00000532297.1	-	3	669	c.40G>C	c.(40-42)Gaa>Caa	p.E14Q	NXF1_ENST00000294172.2_Missense_Mutation_p.E14Q|NXF1_ENST00000439713.2_Missense_Mutation_p.E14Q|NXF1_ENST00000531131.1_Intron|NXF1_ENST00000531709.2_Missense_Mutation_p.E14Q			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	14	Interaction with ALYREF/THOC4.|Minor non-specific RNA-binding.|RNA-binding (RBD).				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTAACGCGTTCATCATCGTGT	0.448																																							uc001nvf.1		NA																	0				skin(3)	3						c.(40-42)GAA>CAA		nuclear RNA export factor 1 isoform 1							105.0	111.0	109.0					11																	62571439		2201	4299	6500	SO:0001583	missense	10482				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	g.chr11:62571439C>G	AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.40G>C	11.37:g.62571439C>G	ENSP00000436679:p.Glu14Gln					NXF1_uc001nvg.1_Missense_Mutation_p.E14Q|NXF1_uc009yog.1_Missense_Mutation_p.E57Q|NXF1_uc010rmh.1_Intron	p.E14Q	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN			2	176	-			14			Interaction with THOC4.		B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	ENST00000532297.1	37	c.40G>C	CCDS8037.1	.	.	.	.	.	.	.	.	.	.	C	3.231	-0.157378	0.06544	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875;ENST00000439713	T;T;T;T	0.46063	0.93;0.93;0.88;0.91	0.235	0.235	0.15431	.	0.802929	0.11113	N	0.598331	T	0.19485	0.0468	N	0.03608	-0.345	0.19300	N	0.999979	B;P;P	0.39094	0.001;0.659;0.659	B;B;B	0.42959	0.0;0.403;0.403	T	0.19679	-1.0298	9	0.12430	T	0.62	.	.	.	.	.	57;27;14	E9PIN3;Q59E96;Q9UBU9	.;.;NXF1_HUMAN	Q	14;14;57;14	ENSP00000294172:E14Q;ENSP00000436679:E14Q;ENSP00000435742:E57Q;ENSP00000408864:E14Q	ENSP00000294172:E14Q	E	-	1	0	NXF1	62328015	1.000000	0.71417	0.996000	0.52242	0.933000	0.57130	5.861000	0.69553	0.308000	0.22923	0.313000	0.20887	GAA		0.448	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2	NM_006362		14	69	0	0	0	0.175082	0	14	69				
LRRC32	2615	broad.mit.edu	37	11	76372201	76372201	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr11:76372201C>A	ENST00000407242.2	-	3	678	c.436G>T	c.(436-438)Ggg>Tgg	p.G146W	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Missense_Mutation_p.G146W|LRRC32_ENST00000260061.5_Missense_Mutation_p.G146W	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	146					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GGTGCCTCCCCCAGCAGCCGC	0.677																																							uc001oxq.3		NA																	0					0						c.(436-438)GGG>TGG		leucine rich repeat containing 32 precursor							34.0	42.0	39.0					11																	76372201		2200	4291	6491	SO:0001583	missense	2615					integral to plasma membrane		g.chr11:76372201C>A	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.436G>T	11.37:g.76372201C>A	ENSP00000384126:p.Gly146Trp					LRRC32_uc001oxr.3_Missense_Mutation_p.G146W|LRRC32_uc010rsf.1_Missense_Mutation_p.G146W	p.G146W	NM_005512	NP_005503	Q14392	LRC32_HUMAN			3	679	-			146			Extracellular (Potential).		Q86V06	Missense_Mutation	SNP	ENST00000407242.2	37	c.436G>T	CCDS8245.1	.	.	.	.	.	.	.	.	.	.	C	9.996	1.232048	0.22626	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995;ENST00000421973	T;T;T;T	0.81163	-1.46;-1.46;-1.46;0.32	4.56	3.62	0.41486	.	0.537283	0.20681	N	0.087653	T	0.77980	0.4212	L	0.43701	1.375	0.09310	N	0.999993	P;P	0.51537	0.946;0.946	P;P	0.52881	0.645;0.712	T	0.69296	-0.5182	10	0.72032	D	0.01	.	5.395	0.16265	0.0:0.5086:0.3283:0.163	.	146;146	C9JYU3;Q14392	.;LRC32_HUMAN	W	146	ENSP00000260061:G146W;ENSP00000384126:G146W;ENSP00000385766:G146W;ENSP00000413331:G146W	ENSP00000260061:G146W	G	-	1	0	LRRC32	76049849	0.154000	0.22792	0.984000	0.44739	0.203000	0.24098	0.702000	0.25631	2.375000	0.81037	0.561000	0.74099	GGG		0.677	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		12	27	1	0	6.40141e-05	0.080935	6.92327e-05	12	27				
BCL9L	283149	broad.mit.edu	37	11	118772162	118772162	+	Missense_Mutation	SNP	G	G	A	rs148554205		TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr11:118772162G>A	ENST00000334801.3	-	6	3254	c.2290C>T	c.(2290-2292)Ccc>Tcc	p.P764S	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	764	Met-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GGCCCCATGGGTGGGTCCACC	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18977	0.0		0.0	False		,,,				2504	0.0						uc001pug.2		NA																	0				ovary(1)|pancreas(1)	2						c.(2290-2292)CCC>TCC		B-cell CLL/lymphoma 9-like		G	SER/PRO	3,4397	8.1+/-20.4	0,3,2197	135.0	81.0	99.0		2290	4.0	0.8	11	dbSNP_134	99	0,8586		0,0,4293	yes	missense	BCL9L	NM_182557.2	74	0,3,6490	AA,AG,GG		0.0,0.0682,0.0231	benign	764/1500	118772162	3,12983	2200	4293	6493	SO:0001583	missense	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118772162G>A	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.2290C>T	11.37:g.118772162G>A	ENSP00000335320:p.Pro764Ser					BCL9L_uc009zal.2_Missense_Mutation_p.P759S	p.P764S	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	3255	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	764			Met-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	c.2290C>T	CCDS8403.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	5.332	0.246637	0.10130	6.82E-4	0.0	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000525300;ENST00000392849;ENST00000431085	T	0.78481	-1.18	4.96	4.04	0.47022	.	0.000000	0.46442	D	0.000285	T	0.62986	0.2473	L	0.40543	1.245	0.35592	D	0.807163	B;B	0.25312	0.123;0.075	B;B	0.28638	0.092;0.043	T	0.58674	-0.7595	10	0.12103	T	0.63	-10.841	4.5002	0.11860	0.0852:0.1537:0.6026:0.1585	.	759;764	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	S	764;727;57;764;764	ENSP00000335320:P764S	ENSP00000335320:P764S	P	-	1	0	BCL9L	118277372	0.993000	0.37304	0.789000	0.31954	0.958000	0.62258	2.627000	0.46469	2.292000	0.77174	0.313000	0.20887	CCC		0.607	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		4	21	0	0	0	0.150653	0	4	21				
HMBS	3145	broad.mit.edu	37	11	118960770	118960770	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr11:118960770G>C	ENST00000278715.3	+	7	566	c.415G>C	c.(415-417)Gag>Cag	p.E139Q	HMBS_ENST00000537841.1_Missense_Mutation_p.E122Q|HMBS_ENST00000442944.2_Missense_Mutation_p.E122Q|HMBS_ENST00000392841.1_Missense_Mutation_p.E122Q|HMBS_ENST00000544387.1_Missense_Mutation_p.E139Q|HMBS_ENST00000543090.1_Missense_Mutation_p.E121Q|HMBS_ENST00000542729.1_Missense_Mutation_p.E122Q|HMBS_ENST00000534956.1_3'UTR	NM_000190.3	NP_000181.2	P08397	HEM3_HUMAN	hydroxymethylbilane synthase	139					heme biosynthetic process (GO:0006783)|peptidyl-pyrromethane cofactor linkage (GO:0018160)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	hydroxymethylbilane synthase activity (GO:0004418)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		AACCCTGCCAGAGAAGAGGTA	0.542																																							uc001puz.1		NA																	0					0						c.(415-417)GAG>CAG		hydroxymethylbilane synthase isoform 1							76.0	81.0	80.0					11																	118960770		2200	4295	6495	SO:0001583	missense	3145	Porphyria_Acute_Intermittent			peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity	g.chr11:118960770G>C	X04808	CCDS8409.1, CCDS41726.1, CCDS58186.1, CCDS58187.1	11q23.3	2013-07-10			ENSG00000256269	ENSG00000256269	2.5.1.61		4982	protein-coding gene	gene with protein product		609806	"""uroporphyrinogen I synthase"", ""porphobilinogen deaminase"", ""porphyria, acute; Chester type"""	PBGD, UPS, PORC		8432552, 17298217	Standard	NM_001258208		Approved		uc001puz.1	P08397	OTTHUMG00000168295	ENST00000278715.3:c.415G>C	11.37:g.118960770G>C	ENSP00000278715:p.Glu139Gln					HMBS_uc009zao.1_Missense_Mutation_p.E84Q|HMBS_uc001pvc.1_Missense_Mutation_p.E84Q|HMBS_uc009zap.1_Missense_Mutation_p.E122Q|HMBS_uc001pva.1_Missense_Mutation_p.E139Q|HMBS_uc001pvb.1_Missense_Mutation_p.E121Q|HMBS_uc001pvd.1_Missense_Mutation_p.E122Q|HMBS_uc001pve.1_Missense_Mutation_p.E122Q|HMBS_uc001pvf.1_Missense_Mutation_p.E122Q	p.E139Q	NM_000190	NP_000181	P08397	HEM3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)	7	572	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	139					A8K2L0|G3V1P4|G5EA58|P08396|Q16012	Missense_Mutation	SNP	ENST00000278715.3	37	c.415G>C	CCDS8409.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117738	0.77323	.	.	ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000149397	ENST00000278715;ENST00000537841;ENST00000542729;ENST00000546302;ENST00000544387;ENST00000543090;ENST00000539986;ENST00000535253;ENST00000392841;ENST00000442944	D;D;D;D;D;D;D;D;D;D	0.99688	-6.41;-6.41;-6.41;-6.41;-6.41;-6.41;-6.41;-6.41;-6.41;-6.41	6.06	6.06	0.98353	Porphobilinogen deaminase, N-terminal (1);	0.198696	0.53938	D	0.000056	D	0.99254	0.9740	L	0.39085	1.19	0.49915	D	0.999833	P;D;D;B;D	0.61697	0.948;0.987;0.987;0.08;0.99	P;P;P;B;P	0.60886	0.65;0.809;0.809;0.036;0.88	D	0.99933	1.1338	10	0.09338	T	0.73	-31.6668	19.609	0.95594	0.0:0.0:1.0:0.0	.	122;122;121;139;139	P08397-2;G3V1P4;F5H345;G5EA58;P08397	.;.;.;.;HEM3_HUMAN	Q	139;122;122;113;139;121;122;122;122;122	ENSP00000278715:E139Q;ENSP00000444730:E122Q;ENSP00000443058:E122Q;ENSP00000445599:E113Q;ENSP00000438424:E139Q;ENSP00000445429:E121Q;ENSP00000440092:E122Q;ENSP00000442079:E122Q;ENSP00000376584:E122Q;ENSP00000392041:E122Q	ENSP00000392041:E122Q	E	+	1	0	CTD-2589C9.4;HMBS	118465980	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	5.379000	0.66196	2.882000	0.98803	0.655000	0.94253	GAG		0.542	HMBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399188.1	NM_000190		12	50	0	0	0	0.09319	0	12	50				
THY1	7070	broad.mit.edu	37	11	119291006	119291006	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr11:119291006G>A	ENST00000284240.5	-	3	1167	c.128C>T	c.(127-129)aCc>aTc	p.T43I	USP2-AS1_ENST00000498979.2_RNA|RP11-334E6.12_ENST00000578216.1_RNA|USP2-AS1_ENST00000578923.1_RNA|USP2-AS1_ENST00000500970.1_RNA|THY1_ENST00000528522.1_Missense_Mutation_p.T43I|USP2-AS1_ENST00000530002.1_RNA|THY1_ENST00000580275.1_Missense_Mutation_p.T26I|THY1_ENST00000527590.1_5'UTR	NM_006288.3	NP_006279.2	P04216	THY1_HUMAN	Thy-1 cell surface antigen	43	Ig-like V-type.				angiogenesis (GO:0001525)|cytoskeleton organization (GO:0007010)|focal adhesion assembly (GO:0048041)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of GTPase activity (GO:0043547)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell activation (GO:0050870)|retinal cone cell development (GO:0046549)|single organismal cell-cell adhesion (GO:0016337)|T cell receptor signaling pathway (GO:0050852)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|integrin binding (GO:0005178)|Rho GTPase activator activity (GO:0005100)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)		TGAACTGCTGGTATTCTCATG	0.597																																							uc001pwq.2		NA																	0					0						c.(127-129)ACC>ATC		Thy-1 cell surface antigen preproprotein							154.0	140.0	145.0					11																	119291006		2199	4295	6494	SO:0001583	missense	7070				angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|negative regulation of T cell receptor signaling pathway|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell activation|retinal cone cell development|T cell receptor signaling pathway	endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft	GPI anchor binding|integrin binding|Rho GTPase activator activity	g.chr11:119291006G>A	M11749	CCDS8424.1	11q23.3	2013-01-14				ENSG00000154096		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11801	protein-coding gene	gene with protein product		188230				2864690	Standard	NM_006288		Approved	CD90	uc001pwr.3	P04216		ENST00000284240.5:c.128C>T	11.37:g.119291006G>A	ENSP00000284240:p.Thr43Ile					uc001pwo.2_Intron|uc001pwp.1_Intron|THY1_uc001pwr.2_Missense_Mutation_p.T43I|THY1_uc001pws.2_RNA	p.T43I	NM_006288	NP_006279	P04216	THY1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)	2	162	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	43			Ig-like V-type.		Q16008|Q9NSP1	Missense_Mutation	SNP	ENST00000284240.5	37	c.128C>T	CCDS8424.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.51|11.51	1.660017|1.660017	0.29515|0.29515	.|.	.|.	ENSG00000154096|ENSG00000154096	ENST00000527590|ENST00000284240;ENST00000528522;ENST00000524970;ENST00000524659	.|T;T;T;T	.|0.42131	.|0.98;0.98;0.98;0.98	4.98|4.98	0.203|0.203	0.15195|0.15195	.|Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.|0.463587	.|0.23678	.|N	.|0.045653	T|T	0.33469|0.33469	0.0864|0.0864	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	N|N	1|1	.|B	.|0.26744	.|0.158	.|B	.|0.28385	.|0.089	T|T	0.30563|0.30563	-0.9974|-0.9974	5|10	.|0.62326	.|D	.|0.03	-8.4003|-8.4003	3.2385|3.2385	0.06772|0.06772	0.0906:0.1244:0.3692:0.4158|0.0906:0.1244:0.3692:0.4158	.|.	.|43	.|P04216	.|THY1_HUMAN	S|I	51|43	.|ENSP00000284240:T43I;ENSP00000431301:T43I;ENSP00000432808:T43I;ENSP00000435753:T43I	.|ENSP00000284240:T43I	P|T	-|-	1|2	0|0	THY1|THY1	118796216|118796216	0.055000|0.055000	0.20627|0.20627	0.616000|0.616000	0.29078|0.29078	0.482000|0.482000	0.33219|0.33219	0.796000|0.796000	0.26986|0.26986	0.458000|0.458000	0.26988|0.26988	0.591000|0.591000	0.81541|0.81541	CCA|ACC		0.597	THY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388370.2	NM_006288		23	44	0	0	0	0.0918	0	23	44				
OR8D2	283160	broad.mit.edu	37	11	124189609	124189609	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr11:124189609C>T	ENST00000357438.2	-	1	575	c.485G>A	c.(484-486)cGc>cAc	p.R162H		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		CACTGACATGCGGGTAGTATG	0.453																																							uc010sah.1		NA																	0				breast(1)|central_nervous_system(1)|pancreas(1)	3						c.(484-486)CGC>CAC		olfactory receptor, family 8, subfamily D,							105.0	97.0	100.0					11																	124189609		2201	4299	6500	SO:0001583	missense	283160				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124189609C>T	AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"""GPCR / Class A : Olfactory receptors"""	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.485G>A	11.37:g.124189609C>T	ENSP00000350022:p.Arg162His						p.R162H	NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)	1	485	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	162			Extracellular (Potential).		B9EH49|Q6IFR0	Missense_Mutation	SNP	ENST00000357438.2	37	c.485G>A	CCDS31707.1	.	.	.	.	.	.	.	.	.	.	c	10.11	1.260789	0.23051	.	.	ENSG00000197263	ENST00000357438	T	0.00091	8.74	3.62	1.59	0.23543	GPCR, rhodopsin-like superfamily (1);	1.464910	0.04378	N	0.360324	T	0.00109	0.0003	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.18398	-1.0338	10	0.52906	T	0.07	.	5.7746	0.18271	0.1568:0.6501:0.0:0.1931	.	162	Q9GZM6	OR8D2_HUMAN	H	162	ENSP00000350022:R162H	ENSP00000350022:R162H	R	-	2	0	OR8D2	123694819	0.000000	0.05858	0.102000	0.21198	0.076000	0.17211	-0.440000	0.06888	0.465000	0.27167	-0.517000	0.04412	CGC		0.453	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	NM_001002918		28	37	0	0	0	0.134883	0	28	37				
CACNA1C	775	broad.mit.edu	37	12	2676956	2676956	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr12:2676956A>T	ENST00000347598.4	+	13	1891	c.1891A>T	c.(1891-1893)Acg>Tcg	p.T631S	CACNA1C_ENST00000399655.1_Missense_Mutation_p.T631S|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T631S|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T631S|CACNA1C_ENST00000480911.1_Missense_Mutation_p.T631S|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T631S|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T656S|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T631S|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T631S|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T631S|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T631S|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T631S|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T631S|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T631S|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T631S|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T631S|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T631S|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T631S|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T631S|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T631S|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T631S|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T631S|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T631S	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	631					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTTCAAGATCACGAGGTACTG	0.602																																							uc009zdu.1		NA																	0				ovary(10)|central_nervous_system(1)	11						c.(1891-1893)ACG>TCG		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						26.0	27.0	27.0					12																	2676956		2088	4253	6341	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2676956A>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1891A>T	12.37:g.2676956A>T	ENSP00000266376:p.Thr631Ser					CACNA1C_uc009zdv.1_Missense_Mutation_p.T628S|CACNA1C_uc001qkb.2_Missense_Mutation_p.T631S|CACNA1C_uc001qkc.2_Missense_Mutation_p.T631S|CACNA1C_uc001qke.2_Missense_Mutation_p.T631S|CACNA1C_uc001qkf.2_Missense_Mutation_p.T631S|CACNA1C_uc001qjz.2_Missense_Mutation_p.T631S|CACNA1C_uc001qkd.2_Missense_Mutation_p.T631S|CACNA1C_uc001qkg.2_Missense_Mutation_p.T631S|CACNA1C_uc009zdw.1_Missense_Mutation_p.T631S|CACNA1C_uc001qkh.2_Missense_Mutation_p.T631S|CACNA1C_uc001qkl.2_Missense_Mutation_p.T631S|CACNA1C_uc001qkn.2_Missense_Mutation_p.T631S|CACNA1C_uc001qko.2_Missense_Mutation_p.T631S|CACNA1C_uc001qkp.2_Missense_Mutation_p.T631S|CACNA1C_uc001qkr.2_Missense_Mutation_p.T631S|CACNA1C_uc001qku.2_Missense_Mutation_p.T631S|CACNA1C_uc001qkq.2_Missense_Mutation_p.T631S|CACNA1C_uc001qks.2_Missense_Mutation_p.T631S|CACNA1C_uc001qkt.2_Missense_Mutation_p.T631S|CACNA1C_uc001qka.1_Missense_Mutation_p.T166S|CACNA1C_uc001qki.1_Missense_Mutation_p.T367S|CACNA1C_uc001qkj.1_Missense_Mutation_p.T367S|CACNA1C_uc001qkk.1_Missense_Mutation_p.T367S|CACNA1C_uc001qkm.1_Missense_Mutation_p.T367S	p.T631S	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	13	2204	+			631			II.|Helical; Name=S4 of repeat II; (Potential).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.1891A>T	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	A	18.84	3.709791	0.68730	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95	5.28	5.28	0.74379	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98991	0.9656	M	0.87900	2.915	0.80722	D	1	D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.996;0.998;1.0;0.993;0.999;0.998;0.999;0.903;0.998;0.999;0.998;0.991;0.998;0.999;0.999;0.99;1.0;0.999;1.0;0.99;0.999;0.999;0.998;0.974;0.998	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.83275	0.99;0.987;0.992;0.99;0.994;0.987;0.994;0.938;0.984;0.994;0.987;0.954;0.994;0.992;0.996;0.979;0.994;0.994;0.994;0.979;0.994;0.994;0.987;0.969;0.987	D	0.99758	1.1020	10	0.87932	D	0	.	15.3668	0.74529	1.0:0.0:0.0:0.0	.	631;628;631;631;631;631;631;631;631;631;631;602;631;631;631;631;631;631;631;631;631;631;631;631;631	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	S	656;631;631;631;631;631;631;631;631;631;631;631;631;631;631;631;631;631;631;631;631;631;631;472	ENSP00000336982:T656S;ENSP00000382563:T631S;ENSP00000437936:T631S;ENSP00000382552:T631S;ENSP00000382547:T631S;ENSP00000382506:T631S;ENSP00000382530:T631S;ENSP00000382546:T631S;ENSP00000382500:T631S;ENSP00000382549:T631S;ENSP00000266376:T631S;ENSP00000382515:T631S;ENSP00000382510:T631S;ENSP00000341092:T631S;ENSP00000382537:T631S;ENSP00000329877:T631S;ENSP00000382557:T631S;ENSP00000385724:T631S;ENSP00000382512:T631S;ENSP00000382542:T631S;ENSP00000382526:T631S;ENSP00000385896:T631S;ENSP00000382504:T631S	ENSP00000323129:T472S	T	+	1	0	CACNA1C	2547217	1.000000	0.71417	1.000000	0.80357	0.221000	0.24807	9.079000	0.94032	2.217000	0.71921	0.379000	0.24179	ACG		0.602	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		8	11	0	0	0	0.038147	0	8	11				
GPR162	27239	broad.mit.edu	37	12	6933408	6933408	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr12:6933408G>A	ENST00000311268.3	+	2	1131	c.344G>A	c.(343-345)cGc>cAc	p.R115H	GPR162_ENST00000541431.1_3'UTR|GPR162_ENST00000382315.3_Intron|GPR162_ENST00000428545.2_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						TCCTACCATCGCATGTGGATG	0.592																																							uc001qqw.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(343-345)CGC>CAC		G protein-coupled receptor 162 isoform 2							114.0	86.0	96.0					12																	6933408		2203	4300	6503	SO:0001583	missense	27239					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:6933408G>A	U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"""GPCR / Class A : Orphans"""	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.344G>A	12.37:g.6933408G>A	ENSP00000311528:p.Arg115His					GPR162_uc010sfn.1_Missense_Mutation_p.R115H|GPR162_uc001qqx.1_Intron|GPR162_uc009zfd.1_Intron|GPR162_uc001qqy.1_5'Flank	p.R115H	NM_019858	NP_062832	Q16538	GP162_HUMAN			2	879	+			115			Cytoplasmic (Potential).		Q16664|Q59EH5|Q66K56	Missense_Mutation	SNP	ENST00000311268.3	37	c.344G>A	CCDS8563.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944936	0.92593	.	.	ENSG00000250510	ENST00000311268	D	0.97161	-4.27	4.13	4.13	0.48395	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	D	0.97170	0.9075	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.98368	1.0552	9	0.87932	D	0	.	16.5654	0.84588	0.0:0.0:1.0:0.0	.	115;115	B7Z3U3;Q16538	.;GP162_HUMAN	H	115	ENSP00000311528:R115H	ENSP00000311528:R115H	R	+	2	0	GPR162	6803669	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.644000	0.98468	2.142000	0.66516	0.313000	0.20887	CGC		0.592	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858		7	75	0	0	0	0.02938	0	7	75				
USP5	8078	broad.mit.edu	37	12	6965958	6965958	+	Silent	SNP	C	C	T	rs201246451		TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr12:6965958C>T	ENST00000229268.8	+	6	724	c.672C>T	c.(670-672)ttC>ttT	p.F224F	USP5_ENST00000389231.5_Silent_p.F224F	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	224	Substrate binding.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						GACGCTACTTCGATGGCAGTG	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		-128	0.001		0.0	False		,,,				2504	0.0						uc001qri.3		NA																	0				lung(2)|breast(1)|skin(1)	4						c.(670-672)TTC>TTT		ubiquitin specific peptidase 5 isoform 1							163.0	112.0	129.0					12																	6965958		2203	4300	6503	SO:0001819	synonymous_variant	8078				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr12:6965958C>T	U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"""Ubiquitin-specific peptidases"""	12628	protein-coding gene	gene with protein product		601447	"""ubiquitin specific protease 5 (isopeptidase T)"""			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.672C>T	12.37:g.6965958C>T						USP5_uc001qrh.3_Silent_p.F224F	p.F224F	NM_001098536	NP_001092006	P45974	UBP5_HUMAN			6	731	+			224			Substrate binding.|UBP-type.		D3DUS7|D3DUS8|Q96J22	Silent	SNP	ENST00000229268.8	37	c.672C>T	CCDS41743.1																																																																																				0.577	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1			6	109	0	0	0	0.02938	0	6	109				
CLEC2D	29121	broad.mit.edu	37	12	9845494	9845494	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr12:9845494G>T	ENST00000290855.6	+	4	450	c.428G>T	c.(427-429)tGg>tTg	p.W143L	CLEC2D_ENST00000261340.7_Missense_Mutation_p.W143L|CLEC2D_ENST00000545918.1_Intron|CLEC2D_ENST00000261339.6_Missense_Mutation_p.W106L|CLEC2D_ENST00000543300.1_Intron	NM_013269.5	NP_037401.1	Q9UHP7	CLC2D_HUMAN	C-type lectin domain family 2, member D	143	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|stomach(1)	9						GGCCAACCATGGAAATGGATA	0.358																																							uc001qwg.1		NA																	0					0						c.(427-429)TGG>TTG		osteoclast inhibitory lectin isoform 1							90.0	89.0	89.0					12																	9845494		2203	4300	6503	SO:0001583	missense	29121				cell surface receptor linked signaling pathway	cell surface|endoplasmic reticulum|integral to plasma membrane|membrane fraction	sugar binding|transmembrane receptor activity	g.chr12:9845494G>T	AF133299	CCDS8602.1, CCDS31741.1, CCDS55800.1, CCDS55801.1, CCDS55802.1	12p13.31	2011-05-24	2005-09-29		ENSG00000069493	ENSG00000069493		"""C-type lectin domain containing"""	14351	protein-coding gene	gene with protein product	"""C-type lectin related f"", ""lectin-like transcript 1"""	605659	"""C-type lectin superfamily 2, member D"""				Standard	NM_013269		Approved	LLT1, CLAX, OCIL	uc001qwf.3	Q9UHP7	OTTHUMG00000168369	ENST00000290855.6:c.428G>T	12.37:g.9845494G>T	ENSP00000290855:p.Trp143Leu					CLEC2D_uc001qwf.1_Missense_Mutation_p.W143L|CLEC2D_uc009zgs.1_RNA|CLEC2D_uc001qwh.1_RNA|CLEC2D_uc009zgt.1_Intron|CLEC2D_uc009zgu.1_Intron	p.W143L	NM_013269	NP_037401	Q9UHP7	CLC2D_HUMAN			4	450	+			143			Extracellular (Potential).|C-type lectin.		D6CI39|D6CI40|D6CI41|Q6YID5|Q8WUP7|Q9HD37|Q9HD38	Missense_Mutation	SNP	ENST00000290855.6	37	c.428G>T	CCDS8602.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055894	0.55325	.	.	ENSG00000069493	ENST00000261340;ENST00000290855;ENST00000261339;ENST00000466035;ENST00000430909;ENST00000460309	T;T;T;T;T;T	0.24908	1.83;1.83;2.12;2.12;2.12;2.12	3.34	3.34	0.38264	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.37955	U	0.001870	T	0.51686	0.1689	M	0.87971	2.92	0.38445	D	0.946809	D;D	0.69078	0.995;0.997	D;D	0.69824	0.925;0.966	T	0.62058	-0.6934	9	.	.	.	-15.4313	10.8631	0.46837	0.0:0.0:1.0:0.0	.	143;143	Q9UHP7;Q9UHP7-3	CLC2D_HUMAN;.	L	143;143;106;100;122;86	ENSP00000261340:W143L;ENSP00000290855:W143L;ENSP00000261339:W106L;ENSP00000446028:W100L;ENSP00000413045:W122L;ENSP00000443177:W86L	.	W	+	2	0	CLEC2D	9736761	1.000000	0.71417	0.415000	0.26534	0.006000	0.05464	3.787000	0.55439	1.812000	0.52913	0.609000	0.83330	TGG		0.358	CLEC2D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000335424.2	NM_013269		14	32	1	0	5.3912e-06	0.175082	6.02725e-06	14	32				
RAPGEF3	10411	broad.mit.edu	37	12	48142639	48142639	+	Missense_Mutation	SNP	C	C	T	rs370751497		TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr12:48142639C>T	ENST00000449771.2	-	11	1205	c.1117G>A	c.(1117-1119)Gcc>Acc	p.A373T	RAPGEF3_ENST00000549151.1_Missense_Mutation_p.A331T|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.A373T|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.A373T|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.A331T|RAPGEF3_ENST00000405493.2_Missense_Mutation_p.A331T|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.A331T			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	373					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GAAGGGCCGGCGCCCTGAGAG	0.597																																							uc009zkp.2		NA																	0				lung(2)|skin(1)|pancreas(1)	4						c.(991-993)GCC>ACC		Rap guanine nucleotide exchange factor 3 isoform		C	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	166.0	151.0	156.0		1117,991,991	0.1	0.0	12		156	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	RAPGEF3	NM_001098531.2,NM_001098532.2,NM_006105.5	58,58,58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign	373/924,331/882,331/882	48142639	2,13004	2203	4300	6503	SO:0001583	missense	10411				regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	g.chr12:48142639C>T	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"""exchange protein directly activated by cAMP 1"""	606057	"""RAP guanine-nucleotide-exchange factor (GEF) 3"""			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.1117G>A	12.37:g.48142639C>T	ENSP00000395708:p.Ala373Thr					RAPGEF3_uc010sln.1_5'Flank|RAPGEF3_uc001rpy.2_5'Flank|RAPGEF3_uc009zkq.2_Missense_Mutation_p.A331T|RAPGEF3_uc001rpz.3_Missense_Mutation_p.A373T|RAPGEF3_uc001rqa.2_5'Flank|RAPGEF3_uc009zkr.2_RNA|RAPGEF3_uc009zks.2_Missense_Mutation_p.A385T	p.A331T	NM_001098532	NP_001092002	A8K2G5	A8K2G5_HUMAN		GBM - Glioblastoma multiforme(48;0.0375)	10	1431	-	Lung SC(27;0.192)		331					A8K2G5|E7EQC8|O95634|Q8WVN0	Missense_Mutation	SNP	ENST00000449771.2	37	c.991G>A	CCDS41775.1	.	.	.	.	.	.	.	.	.	.	C	1.949	-0.441700	0.04604	0.0	2.33E-4	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000541821;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919;ENST00000395358	T;T;T;T;T;T;T	0.71222	-0.36;-0.36;-0.36;-0.36;-0.36;-0.55;-0.44	4.19	0.0748	0.14396	Ras guanine nucleotide exchange factor, domain (1);	1.296300	0.05183	N	0.501814	T	0.49813	0.1579	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.24368	-1.0162	10	0.09338	T	0.73	.	4.5583	0.12147	0.0:0.4622:0.1579:0.38	.	385;373	B7Z5J6;O95398	.;RPGF3_HUMAN	T	331;373;20;331;331;331;373;385;331;373	ENSP00000384521:A331T;ENSP00000395708:A373T;ENSP00000448619:A331T;ENSP00000171000:A331T;ENSP00000373864:A373T;ENSP00000448480:A331T;ENSP00000378764:A373T	ENSP00000171000:A331T	A	-	1	0	RAPGEF3	46428906	0.000000	0.05858	0.001000	0.08648	0.216000	0.24613	-1.385000	0.02540	0.010000	0.14839	0.650000	0.86243	GCC		0.597	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105		8	82	0	0	0	0.058154	0	8	82				
DNAJC22	79962	broad.mit.edu	37	12	49745252	49745252	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr12:49745252T>A	ENST00000549441.2	+	4	2197	c.993T>A	c.(991-993)agT>agA	p.S331R	DNAJC22_ENST00000395069.3_Missense_Mutation_p.S331R			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	331	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						AAGTCCTGAGTCAACCCAGGA	0.562																																							uc001rua.2		NA																	0				ovary(1)	1						c.(991-993)AGT>AGA		DnaJ (Hsp40) homolog, subfamily C, member 22							47.0	48.0	48.0					12																	49745252		2203	4300	6503	SO:0001583	missense	79962				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:49745252T>A	AK055747	CCDS8785.1	12q13.12	2011-09-02		2008-07-08	ENSG00000178401	ENSG00000178401		"""Heat shock proteins / DNAJ (HSP40)"""	25802	protein-coding gene	gene with protein product	"""wurst homolog (Drosophila)"""					17558392	Standard	NM_024902		Approved	wus, FLJ13236	uc001rua.3	Q8N4W6		ENST00000549441.2:c.993T>A	12.37:g.49745252T>A	ENSP00000446830:p.Ser331Arg					DNAJC22_uc001rub.2_Missense_Mutation_p.S331R	p.S331R	NM_024902	NP_079178	Q8N4W6	DJC22_HUMAN			3	1394	+			331			J.		B3KP54	Missense_Mutation	SNP	ENST00000549441.2	37	c.993T>A	CCDS8785.1	.	.	.	.	.	.	.	.	.	.	T	13.10	2.135198	0.37728	.	.	ENSG00000178401	ENST00000549441;ENST00000395069	T;T	0.36157	1.27;1.27	5.5	4.35	0.52113	Heat shock protein DnaJ, N-terminal (5);	0.325045	0.36893	N	0.002344	T	0.33352	0.0860	L	0.54323	1.7	0.35740	D	0.818595	B	0.14805	0.011	B	0.18561	0.022	T	0.35674	-0.9779	10	0.51188	T	0.08	-1.7718	9.8985	0.41334	0.0:0.0:0.3332:0.6668	.	331	Q8N4W6	DJC22_HUMAN	R	331	ENSP00000446830:S331R;ENSP00000378508:S331R	ENSP00000378508:S331R	S	+	3	2	DNAJC22	48031519	0.954000	0.32549	1.000000	0.80357	0.742000	0.42306	0.601000	0.24119	1.087000	0.41251	0.454000	0.30748	AGT		0.562	DNAJC22-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404302.2	NM_024902		10	15	0	0	0	0.105934	0	10	15				
HOXC9	3225	broad.mit.edu	37	12	54394137	54394137	+	Silent	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr12:54394137C>T	ENST00000303450.4	+	1	235	c.165C>T	c.(163-165)ttC>ttT	p.F55F	RP11-834C11.12_ENST00000513209.1_Intron|HOXC9_ENST00000508190.1_Silent_p.F55F|HOXC-AS1_ENST00000505700.1_RNA|HOXC-AS1_ENST00000512427.1_RNA|HOXC9_ENST00000504557.1_Intron	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	55					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						CCTGTAGCTTCGCGCCCAAGC	0.687																																							uc001sep.2		NA																	0				large_intestine(1)|pancreas(1)|skin(1)	3						c.(163-165)TTC>TTT		homeobox C9							40.0	39.0	39.0					12																	54394137		2202	4299	6501	SO:0001819	synonymous_variant	3225				multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54394137C>T		CCDS8869.1	12q13.13	2011-06-20	2005-12-22			ENSG00000180806		"""Homeoboxes / ANTP class : HOXL subclass"""	5130	protein-coding gene	gene with protein product		142971	"""homeo box C9"""	HOX3, HOX3B		1973146	Standard	NM_006897		Approved		uc001seq.3	P31274		ENST00000303450.4:c.165C>T	12.37:g.54394137C>T						HOXC9_uc001seq.2_Silent_p.F55F	p.F55F	NM_006897	NP_008828	P31274	HXC9_HUMAN			2	263	+			55					B2RCN7|Q9H1I0	Silent	SNP	ENST00000303450.4	37	c.165C>T	CCDS8869.1																																																																																				0.687	HOXC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358958.1			3	40	0	0	0	0.150653	0	3	40				
BAZ2A	11176	broad.mit.edu	37	12	57000043	57000043	+	Silent	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr12:57000043C>T	ENST00000551812.1	-	12	2446	c.2253G>A	c.(2251-2253)aaG>aaA	p.K751K	BAZ2A_ENST00000549884.1_Silent_p.K749K|BAZ2A_ENST00000179765.5_Silent_p.K719K|BAZ2A_ENST00000379441.3_Silent_p.K721K	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	751	Lys-rich.				chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TGGATTTCTTCTTAGCTTCCT	0.398																																							uc001slq.1		NA																	0					0						c.(2251-2253)AAG>AAA		bromodomain adjacent to zinc finger domain, 2A							172.0	151.0	158.0					12																	57000043		1879	4119	5998	SO:0001819	synonymous_variant	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:57000043C>T	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.2253G>A	12.37:g.57000043C>T						BAZ2A_uc001slp.1_Silent_p.K749K|BAZ2A_uc009zov.1_5'Flank|BAZ2A_uc009zow.1_Silent_p.K719K	p.K751K	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN			12	2447	-			751			Lys-rich.|Potential.		B3KN66|O00536|O15030|Q68DI8|Q96H26	Silent	SNP	ENST00000551812.1	37	c.2253G>A	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	C	9.207	1.029993	0.19512	.	.	ENSG00000076108	ENST00000547650	.	.	.	4.7	2.85	0.33270	.	.	.	.	.	T	0.56277	0.1974	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49670	-0.8915	4	.	.	.	.	7.821	0.29288	0.0:0.7475:0.1632:0.0893	.	.	.	.	K	177	.	.	R	-	2	0	BAZ2A	55286310	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.826000	0.27407	0.697000	0.31718	0.655000	0.94253	AGA		0.398	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		7	30	0	0	0	0.069234	0	7	30				
BTBD11	121551	broad.mit.edu	37	12	107713770	107713770	+	Silent	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr12:107713770G>A	ENST00000280758.5	+	1	1581	c.1053G>A	c.(1051-1053)ctG>ctA	p.L351L	BTBD11_ENST00000490090.2_Silent_p.L351L|BTBD11_ENST00000420571.2_Silent_p.L351L	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	351						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGGAGACCCTGGAGCACACGG	0.682																																							uc001tmk.1		NA																	0				skin(2)|ovary(1)	3						c.(1051-1053)CTG>CTA		BTB (POZ) domain containing 11 isoform a							23.0	26.0	25.0					12																	107713770		1954	3902	5856	SO:0001819	synonymous_variant	121551					integral to membrane	DNA binding	g.chr12:107713770G>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1053G>A	12.37:g.107713770G>A						BTBD11_uc009zut.1_Silent_p.L351L|BTBD11_uc001tmj.2_Silent_p.L351L	p.L351L	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN			1	1574	+			351					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Silent	SNP	ENST00000280758.5	37	c.1053G>A	CCDS31893.1																																																																																				0.682	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		11	25	0	0	0	0.069234	0	11	25				
NOS1	4842	broad.mit.edu	37	12	117681123	117681123	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr12:117681123C>A	ENST00000338101.4	-	19	3047	c.3043G>T	c.(3043-3045)Gaa>Taa	p.E1015*	NOS1_ENST00000317775.6_Nonsense_Mutation_p.E981*|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TCTGGAGCTTCGGCCACAAAG	0.517																																					Esophageal Squamous(162;1748 2599 51982 52956)	Esophageal Squamous(162;1748 2599 51982 52956)	uc001twm.1		NA																	0				ovary(3)|skin(3)|pancreas(1)	7						c.(2941-2943)GAA>TAA		nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)						203.0	195.0	198.0					12																	117681123		2010	4176	6186	SO:0001587	stop_gained	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117681123C>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3043G>T	12.37:g.117681123C>A	ENSP00000337459:p.Glu1015*						p.E981*	NM_000620	NP_000611	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	19	3627	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		981						Nonsense_Mutation	SNP	ENST00000338101.4	37	c.2941G>T	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	C	47	13.391608	0.99739	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	.	.	.	3.59	3.59	0.41128	.	0.379473	0.08080	U	1.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-20.5032	15.7365	0.77849	0.0:1.0:0.0:0.0	.	.	.	.	X	876;981;981;1015	.	ENSP00000320758:E981X	E	-	1	0	NOS1	116165506	1.000000	0.71417	0.989000	0.46669	0.930000	0.56654	7.333000	0.79214	2.006000	0.58801	0.305000	0.20034	GAA		0.517	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			25	47	1	0	1.17739e-12	0.108266	1.43743e-12	25	47				
GOLGA3	2802	broad.mit.edu	37	12	133375030	133375030	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr12:133375030G>T	ENST00000450791.2	-	8	2017	c.1834C>A	c.(1834-1836)Cac>Aac	p.H612N	GOLGA3_ENST00000456883.2_Missense_Mutation_p.H612N|GOLGA3_ENST00000537452.1_Missense_Mutation_p.H612N|GOLGA3_ENST00000545875.1_Missense_Mutation_p.H612N|GOLGA3_ENST00000204726.3_Missense_Mutation_p.H612N			Q08378	GOGA3_HUMAN	golgin A3	612	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		AGTTTCAGGTGCTCCAGGAGA	0.517																																							uc001ukz.1		NA																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(1834-1836)CAC>AAC		Golgi autoantigen, golgin subfamily a, 3							104.0	99.0	101.0					12																	133375030		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133375030G>T	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.1834C>A	12.37:g.133375030G>T	ENSP00000410378:p.His612Asn					GOLGA3_uc001ula.1_Missense_Mutation_p.H612N|GOLGA3_uc001ulb.2_Missense_Mutation_p.H612N	p.H612N	NM_005895	NP_005886	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	9	2393	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	612			Gln-rich.|Potential.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.1834C>A	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.431380	0.43122	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.33216	1.86;1.86;1.86;1.42;1.42	5.34	5.34	0.76211	.	0.090670	0.85682	D	0.000000	T	0.40423	0.1116	N	0.17082	0.46	0.80722	D	1	D;D;P	0.76494	0.999;0.999;0.566	D;D;B	0.80764	0.994;0.994;0.212	T	0.22521	-1.0214	10	0.25106	T	0.35	.	19.0379	0.92986	0.0:0.0:1.0:0.0	.	612;612;612	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	N	612	ENSP00000204726:H612N;ENSP00000410378:H612N;ENSP00000409303:H612N;ENSP00000442143:H612N;ENSP00000442603:H612N	ENSP00000204726:H612N	H	-	1	0	GOLGA3	131885103	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	6.435000	0.73412	2.497000	0.84241	0.563000	0.77884	CAC		0.517	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		18	48	1	0	6.94344e-10	0.175082	8.0334e-10	18	48				
GPR12	2835	broad.mit.edu	37	13	27333689	27333689	+	Silent	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr13:27333689C>A	ENST00000381436.2	-	1	738	c.276G>T	c.(274-276)ctG>ctT	p.L92L	GPR12_ENST00000405846.3_Silent_p.L92L			P47775	GPR12_HUMAN	G protein-coupled receptor 12	92					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		CAATGCCGGCCAGCAGGTCTG	0.532																																							uc010aal.2		NA																	0					0						c.(274-276)CTG>CTT		G protein-coupled receptor 12							87.0	89.0	88.0					13																	27333689		2203	4300	6503	SO:0001819	synonymous_variant	2835					integral to plasma membrane		g.chr13:27333689C>A	U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"""GPCR / Class A : Orphans"""	4466	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 84"""	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.276G>T	13.37:g.27333689C>A						GPR12_uc010tdl.1_Intron	p.L92L	NM_005288	NP_005279	P47775	GPR12_HUMAN		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)	2	498	-	Colorectal(5;5.77e-05)	Breast(139;0.198)	92			Helical; Name=2; (Potential).		Q5T8P3	Silent	SNP	ENST00000381436.2	37	c.276G>T	CCDS9319.1																																																																																				0.532	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044257.2			21	32	1	0	7.92952e-12	0.0918	9.44895e-12	21	32				
MYCBP2	23077	broad.mit.edu	37	13	77847655	77847655	+	Silent	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr13:77847655G>A	ENST00000544440.2	-	5	800	c.783C>T	c.(781-783)atC>atT	p.I261I	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Silent_p.I299I|MYCBP2_ENST00000357337.6_Silent_p.I261I					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GGATAGCAGAGATGGCCTGAA	0.428																																							uc001vkf.2		NA																	0				ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(781-783)ATC>ATT		MYC binding protein 2							129.0	121.0	124.0					13																	77847655		2203	4300	6503	SO:0001819	synonymous_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77847655G>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.783C>T	13.37:g.77847655G>A						MYCBP2_uc010aev.2_5'UTR	p.I261I	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	6	874	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	261						Silent	SNP	ENST00000544440.2	37	c.783C>T																																																																																					0.428	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		21	29	0	0	0	0.234183	0	21	29				
RPGRIP1	57096	broad.mit.edu	37	14	21788336	21788336	+	Splice_Site	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr14:21788336G>A	ENST00000400017.2	+	11	1467	c.1467G>A	c.(1465-1467)gaG>gaA	p.E489E	RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000556336.1_Splice_Site_p.E462E|RPGRIP1_ENST00000382933.4_Splice_Site_p.E131E|RPGRIP1_ENST00000206660.6_Splice_Site_p.E489E|RPGRIP1_ENST00000557771.1_Splice_Site_p.E462E	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	489					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CTCAGATCGAGGTAAGAGCCT	0.428																																							uc001wag.2		NA																	0				ovary(4)|breast(2)|pancreas(1)	7						c.(1465-1467)GAG>GAA		retinitis pigmentosa GTPase regulator							53.0	50.0	51.0					14																	21788336		1922	4136	6058	SO:0001630	splice_region_variant	57096				response to stimulus|visual perception	cilium		g.chr14:21788336G>A	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.1467+1G>A	14.37:g.21788336G>A						RPGRIP1_uc001wah.2_Silent_p.E131E|RPGRIP1_uc001wai.2_Silent_p.E131E|RPGRIP1_uc001waj.1_5'Flank|RPGRIP1_uc001wak.2_5'Flank|RPGRIP1_uc010aim.2_5'Flank|RPGRIP1_uc001wal.2_5'Flank	p.E489E	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	11	1467	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	489			Potential.		Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Silent	SNP	ENST00000400017.2	37	c.1467G>A	CCDS45080.1																																																																																				0.428	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366	Silent	3	30	0	0	0	0.217242	0	3	30				
STRN3	29966	broad.mit.edu	37	14	31371778	31371778	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr14:31371778C>T	ENST00000357479.5	-	16	2297	c.2101G>A	c.(2101-2103)Gaa>Aaa	p.E701K	STRN3_ENST00000355683.5_Missense_Mutation_p.E617K	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	701					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TGTCTATCTTCATGAGCAGTT	0.294																																							uc001wqu.2		NA																	0					0						c.(2101-2103)GAA>AAA		nuclear autoantigen isoform 1							130.0	128.0	129.0					14																	31371778		2202	4298	6500	SO:0001583	missense	29966				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	g.chr14:31371778C>T		CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"""WD repeat domain containing"""	15720	protein-coding gene	gene with protein product	"""cell cycle S/G2 nuclear autoantigen"""	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.2101G>A	14.37:g.31371778C>T	ENSP00000350071:p.Glu701Lys					STRN3_uc001wqv.2_Missense_Mutation_p.E617K|STRN3_uc010tpj.1_RNA	p.E701K	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)	16	2317	-	Hepatocellular(127;0.0877)|Breast(36;0.148)		701			WD 4.		A2RTX7|A6NHZ7|Q9NRA5	Missense_Mutation	SNP	ENST00000357479.5	37	c.2101G>A	CCDS41938.1	.	.	.	.	.	.	.	.	.	.	C	36	5.612354	0.96637	.	.	ENSG00000196792	ENST00000355683;ENST00000357479	T;T	0.81078	-1.45;-1.45	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.91740	0.7388	M	0.88310	2.945	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.73380	0.959;0.98	D	0.92406	0.5933	10	0.87932	D	0	-7.7634	20.1379	0.98040	0.0:1.0:0.0:0.0	.	617;701	Q13033-2;Q13033	.;STRN3_HUMAN	K	617;701	ENSP00000347909:E617K;ENSP00000350071:E701K	ENSP00000347909:E617K	E	-	1	0	STRN3	30441529	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.779000	0.95612	0.655000	0.94253	GAA		0.294	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		5	74	0	0	0	0.217242	0	5	74				
SAMD4A	23034	broad.mit.edu	37	14	55218249	55218249	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr14:55218249G>T	ENST00000554335.1	+	6	1833	c.1170G>T	c.(1168-1170)ttG>ttT	p.L390F	SAMD4A_ENST00000392067.3_Missense_Mutation_p.L390F|SAMD4A_ENST00000251091.5_Missense_Mutation_p.L302F|SAMD4A_ENST00000357634.3_Missense_Mutation_p.L389F			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	390	SAM.				negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						TGAAGTCTTTGGAAAGGGTAA	0.373																																							uc001xbb.2		NA																	0					0						c.(1165-1167)TTG>TTT		sterile alpha motif domain containing 4 isoform							98.0	105.0	102.0					14																	55218249		2203	4300	6503	SO:0001583	missense	23034				positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	g.chr14:55218249G>T	AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"""Sterile alpha motif (SAM) domain containing"""	23023	protein-coding gene	gene with protein product	"""smaug homolog (Drosophila)"""	610747	"""sterile alpha motif domain containing 4"""	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.1170G>T	14.37:g.55218249G>T	ENSP00000452535:p.Leu390Phe					SAMD4A_uc001xbc.2_Missense_Mutation_p.L301F	p.L389F	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN			5	1168	+			390			SAM.		A8MPZ5|Q0VA96|Q6PEW4	Missense_Mutation	SNP	ENST00000554335.1	37	c.1167G>T	CCDS32084.2	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822376	0.71028	.	.	ENSG00000020577	ENST00000554335;ENST00000392067;ENST00000305831;ENST00000251091;ENST00000357634	.	.	.	6.08	2.91	0.33838	Smaug, pseudo-HEAT analogous topology (1);	0.000000	0.64402	D	0.000001	T	0.76557	0.4004	M	0.83603	2.65	0.53688	D	0.999972	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.76498	-0.2937	9	0.72032	D	0.01	-15.1561	7.3972	0.26944	0.4158:0.0:0.5842:0.0	.	302;390	Q9UPU9-3;Q9UPU9	.;SMAG1_HUMAN	F	390;390;302;301;389	.	ENSP00000306381:L302F	L	+	3	2	SAMD4A	54287999	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.440000	0.44855	0.891000	0.36235	0.655000	0.94253	TTG		0.373	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589		7	83	1	0	0.00448238	0.047766	0.0046947	7	83				
FBXO34	55030	broad.mit.edu	37	14	55818909	55818909	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr14:55818909A>G	ENST00000313833.4	+	2	2046	c.1801A>G	c.(1801-1803)Acc>Gcc	p.T601A	FBXO34_ENST00000440021.1_Missense_Mutation_p.T601A	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	601	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.									breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						CCTTAAATGTACCTGCTGCTA	0.448																																							uc001xbu.2		NA																	0				ovary(2)|lung(2)|skin(1)	5						c.(1801-1803)ACC>GCC		F-box only protein 34							93.0	85.0	88.0					14																	55818909		2203	4300	6503	SO:0001583	missense	55030							g.chr14:55818909A>G	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"""F-boxes /  ""other"""""	20201	protein-coding gene	gene with protein product		609104	"""F-box only protein 34"""				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1801A>G	14.37:g.55818909A>G	ENSP00000313159:p.Thr601Ala					FBXO34_uc001xbv.2_RNA|FBXO34_uc010aoo.2_Missense_Mutation_p.T601A	p.T601A	NM_017943	NP_060413	Q9NWN3	FBX34_HUMAN			2	2046	+			601			F-box.		Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	ENST00000313833.4	37	c.1801A>G	CCDS32086.1	.	.	.	.	.	.	.	.	.	.	A	14.17	2.454293	0.43634	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.23348	1.91;1.91	5.91	5.91	0.95273	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.061042	0.64402	D	0.000005	T	0.50411	0.1614	M	0.75264	2.295	0.54753	D	0.99998	D	0.65815	0.995	D	0.62955	0.909	T	0.53258	-0.8464	10	0.72032	D	0.01	.	16.3512	0.83208	1.0:0.0:0.0:0.0	.	601	Q9NWN3	FBX34_HUMAN	A	601	ENSP00000313159:T601A;ENSP00000394117:T601A	ENSP00000313159:T601A	T	+	1	0	FBXO34	54888662	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.129000	0.64739	2.266000	0.75297	0.533000	0.62120	ACC		0.448	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			34	34	0	0	0	0.193644	0	34	34				
EXOC5	10640	broad.mit.edu	37	14	57676740	57676740	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr14:57676740C>A	ENST00000413566.2	-	16	2012	c.1653G>T	c.(1651-1653)ttG>ttT	p.L551F	EXOC5_ENST00000340918.7_Missense_Mutation_p.L486F	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	551					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle docking (GO:0048278)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						GTTCTGCAGCCAAAATATGCT	0.289																																							uc001xct.2		NA																	0				ovary(2)|breast(1)	3						c.(1651-1653)TTG>TTT		SEC10 protein							71.0	64.0	66.0					14																	57676740		1830	4065	5895	SO:0001583	missense	10640				exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm		g.chr14:57676740C>A	U85946	CCDS45111.1	14q22.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000070367	ENSG00000070367			10696	protein-coding gene	gene with protein product		604469	"""SEC10 (S. cerevisiae)-like 1"", ""SEC10-like 1 (S. cerevisiae)"""	SEC10L1		9119050	Standard	XM_005267272		Approved	SEC10, SEC10P	uc001xct.3	O00471	OTTHUMG00000171309	ENST00000413566.2:c.1653G>T	14.37:g.57676740C>A	ENSP00000389934:p.Leu551Phe					EXOC5_uc001xcs.2_Missense_Mutation_p.L230F|EXOC5_uc010trg.1_Missense_Mutation_p.L496F|EXOC5_uc010trh.1_Missense_Mutation_p.L486F	p.L551F	NM_006544	NP_006535	O00471	EXOC5_HUMAN			16	1904	-			551					B2R6C5	Missense_Mutation	SNP	ENST00000413566.2	37	c.1653G>T	CCDS45111.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.144686	0.57044	.	.	ENSG00000070367	ENST00000413566;ENST00000340918	T;T	0.60548	0.22;0.18	4.95	4.06	0.47325	.	0.067757	0.64402	D	0.000011	T	0.67618	0.2912	L	0.60455	1.87	0.80722	D	1	D;D	0.57571	0.98;0.96	P;P	0.59424	0.837;0.857	T	0.69003	-0.5260	10	0.49607	T	0.09	-5.3227	13.3079	0.60363	0.0:0.923:0.0:0.077	.	486;551	F8W9B8;O00471	.;EXOC5_HUMAN	F	551;486	ENSP00000389934:L551F;ENSP00000342100:L486F	ENSP00000342100:L486F	L	-	3	2	EXOC5	56746493	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.091000	0.41691	1.219000	0.43474	0.561000	0.74099	TTG		0.289	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412905.1	NM_006544		3	12	1	0	0.004672	0.115264	0.00484233	3	12				
SLC35F4	341880	broad.mit.edu	37	14	58033208	58033208	+	Missense_Mutation	SNP	C	C	A	rs199576201		TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr14:58033208C>A	ENST00000339762.6	-	7	1308	c.1309G>T	c.(1309-1311)Gtt>Ttt	p.V437F	SLC35F4_ENST00000554729.1_Missense_Mutation_p.V278F|SLC35F4_ENST00000556826.1_Missense_Mutation_p.V401F			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	437					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTTCCAGGAACGCTGAGCACT	0.483																																							uc001xdb.1		NA																	0				ovary(2)	2						c.(1309-1311)GTT>TTT		solute carrier family 35, member F4							66.0	72.0	70.0					14																	58033208		2047	4212	6259	SO:0001583	missense	341880							g.chr14:58033208C>A			14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812		"""Solute carriers"""	19845	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 36"""	C14orf36			Standard	NM_001206920		Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000339762.6:c.1309G>T	14.37:g.58033208C>A	ENSP00000342518:p.Val437Phe					SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_Missense_Mutation_p.V278F	p.V437F	NM_001080455	NP_001073924					7	1309	-								A6NDQ3	Missense_Mutation	SNP	ENST00000339762.6	37	c.1309G>T		.	.	.	.	.	.	.	.	.	.	C	22.6	4.306097	0.81247	.	.	ENSG00000151812	ENST00000556826;ENST00000339762;ENST00000554729	T;T;T	0.58506	0.37;0.33;0.45	5.64	4.75	0.60458	.	0.054972	0.64402	D	0.000001	T	0.74966	0.3786	M	0.74647	2.275	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.78612	-0.2136	10	0.87932	D	0	-12.573	14.3007	0.66346	0.0:0.9291:0.0:0.0709	.	437	A4IF30	S35F4_HUMAN	F	401;437;278	ENSP00000452086:V401F;ENSP00000342518:V437F;ENSP00000451990:V278F	ENSP00000342518:V437F	V	-	1	0	SLC35F4	57102961	0.998000	0.40836	0.923000	0.36655	0.949000	0.60115	3.745000	0.55119	1.371000	0.46172	0.563000	0.77884	GTT		0.483	SLC35F4-201	KNOWN	basic	protein_coding	protein_coding		XM_292260		5	8	1	0	8.12818e-05	0.02938	8.64978e-05	5	8				
KCNH5	27133	broad.mit.edu	37	14	63416975	63416975	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr14:63416975C>A	ENST00000322893.7	-	7	1513	c.1245G>T	c.(1243-1245)aaG>aaT	p.K415N	KCNH5_ENST00000420622.2_Missense_Mutation_p.K415N|KCNH5_ENST00000394964.2_Missense_Mutation_p.K357N|KCNH5_ENST00000394968.1_Missense_Mutation_p.K357N	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	415					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACAATGAATCCTTGCTGGGTC	0.463																																							uc001xfx.2		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(1243-1245)AAG>AAT		potassium voltage-gated channel, subfamily H,							145.0	129.0	134.0					14																	63416975		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63416975C>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1245G>T	14.37:g.63416975C>A	ENSP00000321427:p.Lys415Asn					KCNH5_uc001xfy.2_Missense_Mutation_p.K415N|KCNH5_uc001xfz.1_Missense_Mutation_p.K357N|KCNH5_uc001xga.2_Missense_Mutation_p.K357N	p.K415N	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	7	1296	-			415			Extracellular (Potential).		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.1245G>T	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.137113	0.37728	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	D;D;D;D	0.98075	-4.7;-4.7;-4.7;-4.7	5.75	2.96	0.34315	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.92506	0.7620	N	0.16037	0.36	0.80722	D	1	B;B;B;B	0.20459	0.005;0.002;0.002;0.045	B;B;B;B	0.26614	0.014;0.013;0.008;0.071	D	0.86816	0.2001	10	0.44086	T	0.13	.	5.9036	0.18980	0.0:0.5332:0.0:0.4668	.	357;357;415;415	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	N	415;415;357;357	ENSP00000321427:K415N;ENSP00000395439:K415N;ENSP00000378419:K357N;ENSP00000378415:K357N	ENSP00000321427:K415N	K	-	3	2	KCNH5	62486728	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	0.669000	0.25142	0.783000	0.33636	0.655000	0.94253	AAG		0.463	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		23	53	1	0	2.44723e-14	0.099896	3.02484e-14	23	53				
ZFYVE1	53349	broad.mit.edu	37	14	73490979	73490979	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr14:73490979G>A	ENST00000556143.1	-	2	958	c.238C>T	c.(238-240)Cat>Tat	p.H80Y	ZFYVE1_ENST00000318876.5_Missense_Mutation_p.H80Y|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.H80Y	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	80					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		CCTGGTAAATGCCCACTGAGA	0.537																																							uc001xnm.2		NA																	0				skin(1)	1						c.(238-240)CAT>TAT		zinc finger, FYVE domain containing 1 isoform 1							164.0	165.0	165.0					14																	73490979		2203	4300	6503	SO:0001583	missense	53349					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr14:73490979G>A	AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.238C>T	14.37:g.73490979G>A	ENSP00000450742:p.His80Tyr					ZFYVE1_uc010arj.2_Missense_Mutation_p.H80Y	p.H80Y	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)	2	878	-		all_lung(585;1.33e-09)	80					J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	ENST00000556143.1	37	c.238C>T	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	G	5.976	0.363951	0.11296	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143	T;T;T	0.63096	-0.02;-0.01;-0.01	5.21	4.33	0.51752	.	0.306226	0.32802	N	0.005627	T	0.39517	0.1081	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26573	-1.0099	10	0.49607	T	0.09	-10.4127	8.9097	0.35546	0.079:0.0:0.739:0.182	.	80;80	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	Y	80	ENSP00000452442:H80Y;ENSP00000326921:H80Y;ENSP00000450742:H80Y	ENSP00000326921:H80Y	H	-	1	0	ZFYVE1	72560732	1.000000	0.71417	0.944000	0.38274	0.002000	0.02628	4.313000	0.59160	1.458000	0.47871	-0.151000	0.13558	CAT		0.537	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		97	140	0	0	0	0.139131	0	97	140				
AK7	122481	broad.mit.edu	37	14	96953381	96953381	+	Silent	SNP	T	T	C			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr14:96953381T>C	ENST00000267584.4	+	17	2165	c.2121T>C	c.(2119-2121)ccT>ccC	p.P707P		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	707	DPY-30.				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)		CCGAAGACCCTGTTGATTTTC	0.428																																							uc001yfn.2		NA																	0				ovary(1)	1						c.(2119-2121)CCT>CCC		adenylate kinase 7							72.0	71.0	72.0					14																	96953381		2203	4300	6503	SO:0001819	synonymous_variant	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96953381T>C	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.2121T>C	14.37:g.96953381T>C							p.P707P	NM_152327	NP_689540	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	17	2165	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	707			DPY-30.		Q8IYP6	Silent	SNP	ENST00000267584.4	37	c.2121T>C	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	T	0.399	-0.919258	0.02396	.	.	ENSG00000140057	ENST00000554706	.	.	.	5.75	-11.5	0.00074	.	.	.	.	.	T	0.34279	0.0892	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44298	-0.9337	4	.	.	.	-19.0024	4.1054	0.10035	0.127:0.4224:0.1465:0.3041	.	.	.	.	R	129	.	.	C	+	1	0	AK7	96023134	0.000000	0.05858	0.014000	0.15608	0.088000	0.18126	-2.284000	0.01154	-2.551000	0.00479	-0.285000	0.09966	TGT		0.428	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1			23	40	0	0	0	0.083992	0	23	40				
DIO3	1735	broad.mit.edu	37	14	102028667	102028667	+	Silent	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr14:102028667C>T	ENST00000510508.4	+	1	980	c.834C>T	c.(832-834)gaC>gaT	p.D278D	DIO3_ENST00000359323.3_Silent_p.D252D|DIO3OS_ENST00000408206.1_lincRNA			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	278					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				GTGGCCCCGACGGCTACCAGG	0.597																																							uc010txq.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(754-756)GAC>GAT		deiodinase, iodothyronine, type III							53.0	60.0	58.0					14																	102028667		2061	4181	6242	SO:0001819	synonymous_variant	1735				cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity	g.chr14:102028667C>T	S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.834C>T	14.37:g.102028667C>T						DIO3OS_uc001ykd.1_5'Flank|uc001yke.2_5'Flank|uc001ykf.2_5'Flank|uc001ykg.2_5'Flank|uc001ykh.3_5'Flank|MIR1247_hsa-mir-1247|MI0006382_5'Flank	p.D252D	NM_001362	NP_001353	P55073	IOD3_HUMAN			2	980	+		all_neural(303;0.185)	252			Extracellular (Potential).		G3XAM0|Q8WVN5	Silent	SNP	ENST00000510508.4	37	c.756C>T	CCDS41992.2																																																																																				0.597	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	NM_001362		3	58	0	0	0	0.115264	0	3	58				
PPP1R13B	23368	broad.mit.edu	37	14	104206830	104206830	+	Silent	SNP	A	A	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr14:104206830A>T	ENST00000202556.9	-	12	2205	c.1923T>A	c.(1921-1923)ccT>ccA	p.P641P	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_Silent_p.P60P	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	641	Pro-rich.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TACTTTCTGAAGGTGGCTGAG	0.622																																							uc001yof.1		NA																	0				ovary(1)	1						c.(1921-1923)CCT>CCA		apoptosis-stimulating protein of p53, 1							45.0	55.0	52.0					14																	104206830		2061	4194	6255	SO:0001819	synonymous_variant	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104206830A>T	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.1923T>A	14.37:g.104206830A>T						PPP1R13B_uc010awv.1_RNA|PPP1R13B_uc001yog.1_Silent_p.P508P	p.P641P	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN			12	2206	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	641			Pro-rich.		B2RMX5|O94870	Silent	SNP	ENST00000202556.9	37	c.1923T>A	CCDS41997.1																																																																																				0.622	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		25	54	0	0	0	0.099896	0	25	54				
CILP	8483	broad.mit.edu	37	15	65491330	65491330	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr15:65491330A>G	ENST00000261883.4	-	9	1460	c.1294T>C	c.(1294-1296)Tgc>Cgc	p.C432R		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	432					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TTAACAGGGCAGCGTCCCACG	0.527																																							uc002aon.2		NA																	0				ovary(4)|pancreas(2)|skin(1)	7						c.(1294-1296)TGC>CGC		cartilage intermediate layer protein							61.0	57.0	58.0					15																	65491330		2202	4299	6501	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65491330A>G	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.1294T>C	15.37:g.65491330A>G	ENSP00000261883:p.Cys432Arg						p.C432R	NM_003613	NP_003604	O75339	CILP1_HUMAN			9	1475	-			432					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.1294T>C	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	A	16.09	3.025340	0.54683	.	.	ENSG00000138615	ENST00000261883	T	0.54675	0.56	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.74489	0.3723	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78119	-0.2328	10	0.87932	D	0	-8.9947	15.7393	0.77876	1.0:0.0:0.0:0.0	.	432	O75339	CILP1_HUMAN	R	432	ENSP00000261883:C432R	ENSP00000261883:C432R	C	-	1	0	CILP	63278383	1.000000	0.71417	0.984000	0.44739	0.676000	0.39594	9.335000	0.96500	2.308000	0.77769	0.533000	0.62120	TGC		0.527	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		4	35	0	0	0	0.184627	0	4	35				
CHRNB4	1143	broad.mit.edu	37	15	78921866	78921866	+	Missense_Mutation	SNP	C	C	G	rs202080795		TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr15:78921866C>G	ENST00000261751.3	-	5	892	c.781G>C	c.(781-783)Ggc>Cgc	p.G261R	RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000412074.2_Intron|CHRNB4_ENST00000560511.1_5'Flank	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	261					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	ATCTTCTCGCCGCAGTCGGAT	0.567																																							uc002bed.1		NA																	0					0						c.(781-783)GGC>CGC		cholinergic receptor, nicotinic, beta 4							244.0	191.0	209.0					15																	78921866		2196	4293	6489	SO:0001583	missense	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78921866C>G	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.781G>C	15.37:g.78921866C>G	ENSP00000261751:p.Gly261Arg					CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.G79R	p.G261R	NM_000750	NP_000741	P30926	ACHB4_HUMAN			5	893	-			261			Cytoplasmic (Potential).		A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	37	c.781G>C	CCDS10306.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613972	0.87359	.	.	ENSG00000117971	ENST00000261751	D	0.89875	-2.58	5.57	5.57	0.84162	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.96291	0.8790	H	0.94345	3.525	0.80722	D	1	D	0.64830	0.994	D	0.75020	0.985	D	0.96928	0.9679	10	0.72032	D	0.01	.	19.53	0.95225	0.0:1.0:0.0:0.0	.	261	P30926	ACHB4_HUMAN	R	261	ENSP00000261751:G261R	ENSP00000261751:G261R	G	-	1	0	CHRNB4	76708921	1.000000	0.71417	0.989000	0.46669	0.811000	0.45836	7.766000	0.85320	2.637000	0.89404	0.655000	0.94253	GGC		0.567	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			7	84	0	0	0	0.047766	0	7	84				
HOMER2	9455	broad.mit.edu	37	15	83523419	83523419	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr15:83523419C>G	ENST00000304231.8	-	6	853	c.661G>C	c.(661-663)Gag>Cag	p.E221Q	HOMER2_ENST00000426485.1_Intron|HOMER2_ENST00000450735.2_Missense_Mutation_p.E210Q|HOMER2_ENST00000399166.2_Intron	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	221					behavioral response to cocaine (GO:0048148)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|chemical homeostasis within a tissue (GO:0048875)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				cervix(1)|endometrium(2)|lung(6)	9						CGGTCATTCTCATCACGGCAG	0.622																																							uc002bjg.2		NA																	0					0						c.(661-663)GAG>CAG		homer 2 isoform 2							48.0	53.0	51.0					15																	83523419		2170	4272	6442	SO:0001583	missense	9455				metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane		g.chr15:83523419C>G	AF093264	CCDS45334.1, CCDS45336.1	15q24.3	2008-02-05				ENSG00000103942			17513	protein-coding gene	gene with protein product		604799				9808459, 9808458	Standard	NM_199330		Approved	CPD, Cupidin, Vesl-2, HOMER-2B, HOMER-2, HOMER-2A	uc002bjg.3	Q9NSB8		ENST00000304231.8:c.661G>C	15.37:g.83523419C>G	ENSP00000305632:p.Glu221Gln					HOMER2_uc002bjh.2_Missense_Mutation_p.E210Q|HOMER2_uc002bjj.2_Intron|HOMER2_uc002bji.2_Intron	p.E221Q	NM_199330	NP_955362	Q9NSB8	HOME2_HUMAN			6	847	-			221			Potential.		O95269|O95349|Q9NSB6|Q9NSB7|Q9UNT7	Missense_Mutation	SNP	ENST00000304231.8	37	c.661G>C	CCDS45334.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.474610	0.63737	.	.	ENSG00000103942	ENST00000304231;ENST00000450735	T;T	0.79247	1.53;-1.25	5.73	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.88844	0.6547	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.89755	0.3943	10	0.49607	T	0.09	.	14.0242	0.64575	0.0:0.9275:0.0:0.0725	.	210;221	Q9NSB8-2;Q9NSB8	.;HOME2_HUMAN	Q	221;210	ENSP00000305632:E221Q;ENSP00000407634:E210Q	ENSP00000305632:E221Q	E	-	1	0	HOMER2	81320473	1.000000	0.71417	0.863000	0.33907	0.107000	0.19398	7.378000	0.79679	1.431000	0.47355	0.655000	0.94253	GAG		0.622	HOMER2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418689.1			6	16	0	0	0	0.02938	0	6	16				
SMG1	23049	broad.mit.edu	37	16	18893522	18893522	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr16:18893522G>A	ENST00000446231.2	-	10	1670	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W	SMG1_ENST00000389467.3_Missense_Mutation_p.R420W|SMG1_ENST00000565224.1_Missense_Mutation_p.R394W			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	420	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GGAGGACCCCGAATTGGGCTG	0.438																																							uc002dfm.2		NA																	0				breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(1258-1260)CGG>TGG		PI-3-kinase-related kinase SMG-1							38.0	33.0	35.0					16																	18893522		1849	4099	5948	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18893522G>A	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.1258C>T	16.37:g.18893522G>A	ENSP00000402515:p.Arg420Trp					SMG1_uc010bwb.2_Missense_Mutation_p.R280W	p.R420W	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			10	1621	-			420			Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.1258C>T	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790580	0.50102	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01152	5.26;5.26	5.42	3.16	0.36331	Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.02727	0.0082	N	0.24115	0.695	0.34159	D	0.668455	D	0.89917	1.0	D	0.64321	0.924	T	0.57985	-0.7716	10	0.56958	D	0.05	.	15.1008	0.72273	0.0:0.0:0.6781:0.3219	.	420	Q96Q15	SMG1_HUMAN	W	420	ENSP00000402515:R420W;ENSP00000374118:R420W	ENSP00000374118:R420W	R	-	1	2	SMG1	18801023	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.121000	0.31283	1.401000	0.46761	-0.324000	0.08512	CGG		0.438	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		6	10	0	0	0	0.217242	0	6	10				
DNAH3	55567	broad.mit.edu	37	16	20952737	20952737	+	Silent	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr16:20952737G>A	ENST00000261383.3	-	59	11639	c.11640C>T	c.(11638-11640)ctC>ctT	p.L3880L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3880					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGAATCTGATGAGCTCCTGCC	0.493																																							uc010vbe.1		NA																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(11638-11640)CTC>CTT		dynein, axonemal, heavy chain 3							345.0	333.0	337.0					16																	20952737		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20952737G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.11640C>T	16.37:g.20952737G>A						DNAH3_uc010vbd.1_Silent_p.L1315L	p.L3880L	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	59	11640	-			3880					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.11640C>T	CCDS10594.1																																																																																				0.493	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		155	262	0	0	0	0.139131	0	155	262				
SEZ6L2	26470	broad.mit.edu	37	16	29883532	29883532	+	Silent	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr16:29883532G>A	ENST00000308713.5	-	16	3206	c.2679C>T	c.(2677-2679)ttC>ttT	p.F893F	SEZ6L2_ENST00000350527.3_Silent_p.F836F|SEZ6L2_ENST00000537485.1_Silent_p.F862F|SEZ6L2_ENST00000346932.5_Silent_p.F792F	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	893					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCGGGTTGCTGAAGTCCGACT	0.587																																							uc002duq.3		NA																	0				ovary(1)|skin(1)	2						c.(2677-2679)TTC>TTT		seizure related 6 homolog (mouse)-like 2 isoform							54.0	55.0	55.0					16																	29883532		2197	4300	6497	SO:0001819	synonymous_variant	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29883532G>A	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.2679C>T	16.37:g.29883532G>A						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Silent_p.F836F|SEZ6L2_uc002dur.3_Silent_p.F823F|SEZ6L2_uc002dus.3_Silent_p.F792F|SEZ6L2_uc010vec.1_Silent_p.F906F|SEZ6L2_uc010ved.1_Silent_p.F862F	p.F893F	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN			16	2919	-			893			Cytoplasmic (Potential).		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Silent	SNP	ENST00000308713.5	37	c.2679C>T	CCDS10659.1																																																																																				0.587	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		5	28	0	0	0	0.02938	0	5	28				
SALL1	6299	broad.mit.edu	37	16	51171263	51171263	+	Silent	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr16:51171263C>T	ENST00000251020.4	-	3	3768	c.3735G>A	c.(3733-3735)ctG>ctA	p.L1245L	SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000440970.1_Silent_p.L1148L|SALL1_ENST00000541611.1_Silent_p.L68L	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1245					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCTTCATCGCCAGCCCGTTGG	0.552																																					GBM(103;1352 1446 1855 4775 8890)	GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1		NA																	0				skin(5)|ovary(3)	8						c.(3733-3735)CTG>CTA		sal-like 1 isoform a							78.0	70.0	73.0					16																	51171263		2198	4300	6498	SO:0001819	synonymous_variant	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51171263C>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3735G>A	16.37:g.51171263C>T						SALL1_uc010vgr.1_Silent_p.L1148L|SALL1_uc010cbv.2_Silent_p.L97L	p.L1245L	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		3	3766	-		all_cancers(37;0.0322)	1245					Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	c.3735G>A	CCDS10747.1																																																																																				0.552	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		13	34	0	0	0	0.11911	0	13	34				
CHD9	80205	broad.mit.edu	37	16	53260328	53260328	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr16:53260328A>G	ENST00000398510.3	+	4	2034	c.1947A>G	c.(1945-1947)atA>atG	p.I649M	CHD9_ENST00000566029.1_Missense_Mutation_p.I649M|CHD9_ENST00000447540.1_Missense_Mutation_p.I649M|CHD9_ENST00000564845.1_Missense_Mutation_p.I649M			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	649	Lys-rich.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CAGAAGATATAGAAGGGAAGC	0.299																																							uc002ehb.2		NA																	0				lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7						c.(1945-1947)ATA>ATG		chromodomain helicase DNA binding protein 9							74.0	73.0	73.0					16																	53260328		1796	4067	5863	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53260328A>G	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.1947A>G	16.37:g.53260328A>G	ENSP00000381522:p.Ile649Met					CHD9_uc002egy.2_Missense_Mutation_p.I649M|CHD9_uc002egz.1_Missense_Mutation_p.I649M|CHD9_uc002eha.1_Missense_Mutation_p.I649M|CHD9_uc002ehc.2_Missense_Mutation_p.I649M|CHD9_uc002ehd.2_Missense_Mutation_p.I175M	p.I649M	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			4	2111	+		all_cancers(37;0.0212)	649			Lys-rich.		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.1947A>G		.	.	.	.	.	.	.	.	.	.	A	13.60	2.284915	0.40394	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	T;T	0.56941	0.43;0.43	5.39	4.24	0.50183	.	0.790513	0.11179	N	0.591193	T	0.29355	0.0731	N	0.08118	0	0.23956	N	0.996358	B;B;B;B	0.28128	0.002;0.201;0.0;0.002	B;B;B;B	0.25884	0.004;0.064;0.001;0.001	T	0.17561	-1.0365	10	0.35671	T	0.21	-1.1653	4.9183	0.13856	0.5791:0.0:0.0766:0.3442	.	175;649;649;649	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	M	649;649;175	ENSP00000396345:I649M;ENSP00000381522:I649M	ENSP00000219084:I175M	I	+	3	3	CHD9	51817829	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.812000	0.38952	0.756000	0.33013	0.533000	0.62120	ATA		0.299	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		6	12	0	0	0	0.217242	0	6	12				
ARL2BP	23568	broad.mit.edu	37	16	57284415	57284415	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr16:57284415G>A	ENST00000219204.3	+	5	656	c.386G>A	c.(385-387)aGa>aAa	p.R129K	ARL2BP_ENST00000562023.1_Missense_Mutation_p.R89K|RP11-407G23.3_ENST00000564376.1_RNA|RP11-407G23.4_ENST00000562409.1_RNA	NM_012106.3	NP_036238.1	Q9Y2Y0	AR2BP_HUMAN	ADP-ribosylation factor-like 2 binding protein	129					maintenance of protein location in nucleus (GO:0051457)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of catalytic activity (GO:0050790)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	centrosome (GO:0005813)|cilium (GO:0005929)|midbody (GO:0030496)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	small GTPase regulator activity (GO:0005083)|transcription coactivator activity (GO:0003713)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|urinary_tract(1)	12						TTGGACTACAGAGCAGTAAGT	0.423																																							uc002elf.1		NA																	0					0						c.(385-387)AGA>AAA		binder of Arl Two							87.0	80.0	82.0					16																	57284415		2198	4300	6498	SO:0001583	missense	23568				maintenance of protein location in nucleus|positive regulation of tyrosine phosphorylation of Stat3 protein|signal transduction	centrosome|midbody|mitochondrial intermembrane space|nucleus|spindle	protein binding|small GTPase regulator activity|transcription coactivator activity	g.chr16:57284415G>A	AF126062	CCDS10776.1	16q13	2014-01-30			ENSG00000102931	ENSG00000102931			17146	protein-coding gene	gene with protein product	"""binder of Arl2"""	615407	"""retinitis pigmentosa 66 (autosomal recessive)"""	RP66		10488091, 18981177, 23849777	Standard	NM_012106		Approved	BART1, BART	uc002elf.1	Q9Y2Y0	OTTHUMG00000133459	ENST00000219204.3:c.386G>A	16.37:g.57284415G>A	ENSP00000219204:p.Arg129Lys					ARL2BP_uc010vhl.1_Missense_Mutation_p.R129K	p.R129K	NM_012106	NP_036238	Q9Y2Y0	AR2BP_HUMAN			5	628	+			129					B3KQJ5|Q504R0	Missense_Mutation	SNP	ENST00000219204.3	37	c.386G>A	CCDS10776.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016631	0.35606	.	.	ENSG00000102931	ENST00000219204	T	0.39997	1.05	5.84	4.89	0.63831	ADP-ribosylation factor-like 2-binding protein, domain (2);	0.123420	0.53938	U	0.000049	T	0.29423	0.0733	L	0.33245	0.995	0.48696	D	0.999697	B;B	0.28026	0.198;0.01	B;B	0.24541	0.054;0.034	T	0.07578	-1.0765	10	0.20519	T	0.43	-9.8929	10.7283	0.46081	0.1461:0.0:0.8539:0.0	.	97;129	B4DQD8;Q9Y2Y0	.;AR2BP_HUMAN	K	129	ENSP00000219204:R129K	ENSP00000219204:R129K	R	+	2	0	ARL2BP	55841916	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.785000	0.68998	1.484000	0.48361	-0.136000	0.14681	AGA		0.423	ARL2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257334.2	NM_012106		12	26	0	0	0	0.09319	0	12	26				
VAC14	55697	broad.mit.edu	37	16	70818036	70818036	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr16:70818036G>A	ENST00000261776.5	-	5	834	c.574C>T	c.(574-576)Cgg>Tgg	p.R192W		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	192					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				ATGAACTGCCGGGCATACTGG	0.522																																							uc002ezm.2		NA																	0				pancreas(1)|skin(1)	2						c.(574-576)CGG>TGG		Vac14 homolog							106.0	83.0	90.0					16																	70818036		2198	4300	6498	SO:0001583	missense	55697				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	g.chr16:70818036G>A	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.574C>T	16.37:g.70818036G>A	ENSP00000261776:p.Arg192Trp					VAC14_uc010cfw.2_5'UTR|VAC14_uc002ezn.2_Intron	p.R192W	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN			5	832	-		Ovarian(137;0.0699)	192			HEAT 3.		B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	ENST00000261776.5	37	c.574C>T	CCDS10896.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671837	0.88348	.	.	ENSG00000103043	ENST00000261776	D	0.97620	-4.46	5.9	4.93	0.64822	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.98732	0.9574	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99581	1.0973	10	0.87932	D	0	-28.8363	16.2981	0.82786	0.0:0.0:0.8666:0.1334	.	192	Q08AM6	VAC14_HUMAN	W	192	ENSP00000261776:R192W	ENSP00000261776:R192W	R	-	1	2	VAC14	69375537	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.056000	0.71111	1.453000	0.47775	0.650000	0.86243	CGG		0.522	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052		4	62	0	0	0	0.217242	0	4	62				
TRAF4	9618	broad.mit.edu	37	17	27074265	27074265	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr17:27074265C>T	ENST00000262395.5	+	2	307	c.178C>T	c.(178-180)Cct>Tct	p.P60S	AC010761.10_ENST00000579468.1_RNA|TRAF4_ENST00000444415.3_Missense_Mutation_p.P60S|TRAF4_ENST00000262396.6_Missense_Mutation_p.P60S|AC010761.9_ENST00000577325.1_RNA	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	60					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			GGACCAGCTTCCTCTGGACTA	0.602																																							uc002hcs.2		NA																	0				upper_aerodigestive_tract(1)|lung(1)	2						c.(178-180)CCT>TCT		TNF receptor-associated factor 4							81.0	75.0	77.0					17																	27074265		2203	4300	6503	SO:0001583	missense	9618				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding	g.chr17:27074265C>T	X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"""RING-type (C3HC4) zinc fingers"""	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.178C>T	17.37:g.27074265C>T	ENSP00000262395:p.Pro60Ser					TRAF4_uc002hcq.1_Missense_Mutation_p.P60S	p.P60S	NM_004295	NP_004286	Q9BUZ4	TRAF4_HUMAN	Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)		2	286	+	Lung NSC(42;0.01)		60					O75615|Q14848|Q2KJU4|Q2PJN8	Missense_Mutation	SNP	ENST00000262395.5	37	c.178C>T	CCDS11243.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354349	0.61293	.	.	ENSG00000076604	ENST00000262395;ENST00000454852;ENST00000422344;ENST00000444415;ENST00000262396	T;T;T;T	0.29397	2.02;2.22;1.65;1.57	5.71	5.71	0.89125	Zinc finger, RING/FYVE/PHD-type (1);	0.107189	0.64402	D	0.000004	T	0.23289	0.0563	L	0.37507	1.11	0.80722	D	1	B;P	0.38335	0.141;0.627	B;B	0.36030	0.047;0.216	T	0.03443	-1.1036	10	0.05525	T	0.97	.	17.337	0.87285	0.0:1.0:0.0:0.0	.	60;60	Q9BUZ4;Q9BUZ4-2	TRAF4_HUMAN;.	S	60	ENSP00000262395:P60S;ENSP00000415789:P60S;ENSP00000438154:P60S;ENSP00000262396:P60S	ENSP00000262395:P60S	P	+	1	0	TRAF4	24098392	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.244000	0.65400	2.700000	0.92200	0.462000	0.41574	CCT		0.602	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255944.2	NM_145751		3	67	0	0	0	0.184627	0	3	67				
KLHL10	317719	broad.mit.edu	37	17	39994186	39994186	+	Start_Codon_SNP	SNP	T	T	C			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr17:39994186T>C	ENST00000293303.4	+	1	155	c.2T>C	c.(1-3)aTg>aCg	p.M1T	RN7SL871P_ENST00000583512.1_RNA|NT5C3B_ENST00000435506.2_5'Flank|NT5C3B_ENST00000269534.8_5'Flank|NT5C3B_ENST00000521789.1_5'Flank|KLHL10_ENST00000485613.1_3'UTR	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	1					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				CAGGGTGCCATGGAGATGGAG	0.592																																							uc010cxr.2		NA																	0				ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4						c.(1-3)ATG>ACG		kelch-like 10							89.0	89.0	89.0					17																	39994186		1981	4146	6127	SO:0001582	initiator_codon_variant	317719					cytoplasm		g.chr17:39994186T>C	AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"""Kelch-like"", ""BTB/POZ domain containing"""	18829	protein-coding gene	gene with protein product		608778	"""kelch-like 10 (Drosophila)"""				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.2T>C	17.37:g.39994186T>C	ENSP00000293303:p.Met1Thr					NT5C3L_uc010wfu.1_5'Flank|NT5C3L_uc002hyb.3_5'Flank|NT5C3L_uc002hyc.3_5'Flank|NT5C3L_uc002hyd.3_5'Flank|NT5C3L_uc002hxy.3_5'Flank|NT5C3L_uc002hxz.3_5'Flank|NT5C3L_uc002hya.3_5'Flank|KLHL10_uc010wfv.1_Missense_Mutation_p.M1T|KLHL10_uc010wfw.1_5'UTR	p.M1T	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN			1	144	+		Breast(137;0.000162)	1					Q6NW28|Q96MC0	Missense_Mutation	SNP	ENST00000293303.4	37	c.2T>C	CCDS42340.1	.	.	.	.	.	.	.	.	.	.	T	12.77	2.038317	0.35989	.	.	ENSG00000161594	ENST00000448203;ENST00000293303;ENST00000438813	D;T;D	0.83419	-1.72;-0.36;-1.61	4.72	4.72	0.59763	.	0.363689	0.28706	N	0.014409	T	0.73481	0.3592	.	.	.	0.19575	N	0.999963	B;B	0.31931	0.347;0.119	B;B	0.20577	0.03;0.008	T	0.69716	-0.5070	9	0.87932	D	0	.	10.5689	0.45188	0.0:0.0:0.0:1.0	.	1;1	B4DXV2;Q6JEL2	.;KLH10_HUMAN	T	1	ENSP00000391983:M1T;ENSP00000293303:M1T;ENSP00000416221:M1T	ENSP00000293303:M1T	M	+	2	0	KLHL10	37247712	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.979000	0.40608	2.001000	0.58596	0.529000	0.55759	ATG		0.592	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467	Missense_Mutation	68	96	0	0	0	0.139131	0	68	96				
TEX2	55852	broad.mit.edu	37	17	62226339	62226340	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	TC	TC	-	-	TC	TC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr17:62226339_62226340TC>AA	ENST00000583097.1	-	12	3545_3546	c.3373_3374GA>TT	c.(3373-3375)GAt>TTt	p.D1125F	SNORA76_ENST00000408535.2_lincRNA|TEX2_ENST00000581812.1_5'Flank|SNORD104_ENST00000362883.1_RNA|TEX2_ENST00000258991.3_Missense_Mutation_p.D1132F|TEX2_ENST00000584379.1_Missense_Mutation_p.D1125F			Q8IWB9	TEX2_HUMAN	testis expressed 2	1125					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TCATGGCTGATCAGCAGCCTCC	0.515																																							uc002jec.2		NA																	0				ovary(1)	1						c.(3373-3375)GAT>TTT		testis expressed sequence 2																																				SO:0001583	missense	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62226339_62226340TC>AA	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.3373_3374delinsAA	17.37:g.62226339_62226340delinsAA	ENSP00000462665:p.Asp1125Phe					TEX2_uc002jed.2_Missense_Mutation_p.D1132F|TEX2_uc002jee.2_Missense_Mutation_p.D1125F	p.D1125F	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	12	3546_3547	-			1125					Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	DNP	ENST00000583097.1	37	c.3373_3374GA>TT																																																																																					0.515	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		10	91	0	0	0	0.115264	0	10	91				
GNAL	2774	broad.mit.edu	37	18	11752513	11752513	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr18:11752513G>C	ENST00000423027.3	+	1	402	c.81G>C	c.(79-81)aaG>aaC	p.K27N	GNAL_ENST00000535121.1_Missense_Mutation_p.K27N|GNAL_ENST00000269162.5_Missense_Mutation_p.K27N|GNAL_ENST00000334049.6_Intron			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	27					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						CCAACAAAAAGATCGAGAAGC	0.637																																							uc010dkz.2		NA																	0				ovary(1)	1						c.(79-81)AAG>AAC		guanine nucleotide binding protein (G protein),							83.0	80.0	81.0					18																	11752513		2203	4300	6503	SO:0001583	missense	2774				activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr18:11752513G>C	AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.81G>C	18.37:g.11752513G>C	ENSP00000408489:p.Lys27Asn					GNAL_uc002kqc.2_Intron|GNAL_uc002kqd.2_Missense_Mutation_p.K27N	p.K27N	NM_001142339	NP_001135811	P38405	GNAL_HUMAN			2	327	+			27					B7ZA26|Q86XU3	Missense_Mutation	SNP	ENST00000423027.3	37	c.81G>C	CCDS11852.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.701834	0.48307	.	.	ENSG00000141404	ENST00000535121;ENST00000269162;ENST00000423027	D;D;D	0.88431	-2.38;-2.38;-2.38	5.15	2.17	0.27698	.	.	.	.	.	D	0.82440	0.5037	L	0.43152	1.355	0.33762	D	0.622012	B	0.12013	0.005	B	0.21151	0.033	T	0.77890	-0.2419	9	0.30078	T	0.28	.	7.1682	0.25704	0.3825:0.0:0.6175:0.0	.	27	P38405	GNAL_HUMAN	N	27	ENSP00000439023:K27N;ENSP00000269162:K27N;ENSP00000408489:K27N	ENSP00000269162:K27N	K	+	3	2	GNAL	11742513	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.131000	0.42074	0.758000	0.33059	0.484000	0.47621	AAG		0.637	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254561.2	NM_182978, NM_002071		4	61	0	0	0	0.150653	0	4	61				
CCDC178	374864	broad.mit.edu	37	18	30977173	30977173	+	Splice_Site	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr18:30977173C>A	ENST00000383096.3	-	4	241		c.e4-1		CCDC178_ENST00000403303.1_Splice_Site|CCDC178_ENST00000579916.1_Splice_Site|CCDC178_ENST00000402325.1_Splice_Site|CCDC178_ENST00000579947.1_Splice_Site|CCDC178_ENST00000300227.8_Splice_Site|CCDC178_ENST00000406524.2_Splice_Site|CCDC178_ENST00000583930.1_Splice_Site			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178																		CATGTTAAACCTATAAAAGGT	0.333																																							uc002kxn.2		NA																	0				ovary(1)	1						c.e3-1		hypothetical protein LOC374864 isoform 1							73.0	76.0	75.0					18																	30977173		2203	4297	6500	SO:0001630	splice_region_variant	374864							g.chr18:30977173C>A	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.59-1G>T	18.37:g.30977173C>A						C18orf34_uc010xbr.1_Splice_Site_p.G20_splice|C18orf34_uc010dmf.1_Splice_Site_p.G20_splice|C18orf34_uc002kxo.2_Splice_Site_p.G20_splice|C18orf34_uc002kxp.2_Splice_Site_p.G20_splice	p.G20_splice	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN			3	201	-								A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Splice_Site	SNP	ENST00000383096.3	37	c.59_splice	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	C	7.849	0.723662	0.15439	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325;ENST00000399177	.	.	.	2.35	2.35	0.29111	.	.	.	.	.	.	.	.	.	.	.	0.35178	D	0.772243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.2984	0.31999	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C18orf34	29231171	0.028000	0.19301	0.088000	0.20740	0.127000	0.20565	1.399000	0.34566	1.614000	0.50241	0.591000	0.81541	.		0.333	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995	Intron	19	37	1	0	6.33239e-15	0.219247	7.92544e-15	19	37				
FHOD3	80206	broad.mit.edu	37	18	34273362	34273362	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr18:34273362C>T	ENST00000359247.4	+	13	1636	c.1636C>T	c.(1636-1638)Cca>Tca	p.P546S	FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000445677.1_Missense_Mutation_p.P525S|FHOD3_ENST00000590592.1_Missense_Mutation_p.P738S|FHOD3_ENST00000587493.1_3'UTR|FHOD3_ENST00000257209.4_Missense_Mutation_p.P563S	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	546					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TGCCTCCTCCCCAGGAACCCC	0.572																																							uc002kzt.1		NA																	0				skin(3)|large_intestine(2)|breast(2)|ovary(1)	8						c.(1636-1638)CCA>TCA		formin homology 2 domain containing 3							44.0	41.0	42.0					18																	34273362		2203	4300	6503	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34273362C>T	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.1636C>T	18.37:g.34273362C>T	ENSP00000352186:p.Pro546Ser					FHOD3_uc002kzr.1_Missense_Mutation_p.P546S|FHOD3_uc002kzs.1_Missense_Mutation_p.P563S|FHOD3_uc010dmz.1_Missense_Mutation_p.P278S|FHOD3_uc010dna.1_5'UTR	p.P546S	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN			13	1733	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	546					A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.1636C>T		.	.	.	.	.	.	.	.	.	.	C	1.373	-0.585577	0.03827	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.22134	1.97;2.1;2.1	5.8	4.93	0.64822	.	0.658417	0.16201	N	0.224935	T	0.19046	0.0457	L	0.53249	1.67	0.36176	D	0.849099	B;B;B;B	0.23990	0.0;0.095;0.0;0.004	B;B;B;B	0.24974	0.001;0.057;0.001;0.001	T	0.10154	-1.0642	10	0.12103	T	0.63	.	8.8673	0.35294	0.0:0.8312:0.0:0.1688	.	525;546;563;738	Q2V2M9-2;Q2V2M9;Q2V2M9-3;E5F5Q0	.;FHOD3_HUMAN;.;.	S	563;546;525	ENSP00000257209:P563S;ENSP00000352186:P546S;ENSP00000411430:P525S	ENSP00000257209:P563S	P	+	1	0	FHOD3	32527360	0.001000	0.12720	0.910000	0.35882	0.148000	0.21650	0.186000	0.16978	1.462000	0.47948	0.579000	0.79373	CCA		0.572	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		5	25	0	0	0	0.02938	0	5	25				
RTTN	25914	broad.mit.edu	37	18	67781805	67781805	+	Silent	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr18:67781805G>A	ENST00000255674.6	-	27	3845	c.3559C>T	c.(3559-3561)Ctg>Ttg	p.L1187L	RTTN_ENST00000437017.1_Silent_p.L1187L|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1187					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GACTCTGTCAGAACCAAGAGG	0.373																																							uc002lkp.2		NA																	0				ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8						c.(3559-3561)CTG>TTG		rotatin							99.0	91.0	94.0					18																	67781805		1838	4098	5936	SO:0001819	synonymous_variant	25914						binding	g.chr18:67781805G>A	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.3559C>T	18.37:g.67781805G>A						RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Silent_p.L275L	p.L1187L	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			27	3627	-		Esophageal squamous(42;0.129)	1187					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Silent	SNP	ENST00000255674.6	37	c.3559C>T	CCDS42443.1																																																																																				0.373	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		31	60	0	0	0	0.214465	0	31	60				
TMPRSS9	360200	broad.mit.edu	37	19	2399124	2399124	+	Silent	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr19:2399124G>T	ENST00000332578.3	+	3	345	c.345G>T	c.(343-345)cgG>cgT	p.R115R		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	115					plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		GAGGGATCCGGGCAAGGCTGC	0.622																																							uc010xgx.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(343-345)CGG>CGT		transmembrane protease, serine 9							46.0	40.0	42.0					19																	2399124		2203	4300	6503	SO:0001819	synonymous_variant	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2399124G>T	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.345G>T	19.37:g.2399124G>T						TMPRSS9_uc002lvv.1_Silent_p.R149R	p.R115R	NM_182973	NP_892018	Q7Z410	TMPS9_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)	3	345	+			115			Extracellular (Potential).		Q6ZND6|Q7Z411	Silent	SNP	ENST00000332578.3	37	c.345G>T	CCDS12088.1																																																																																				0.622	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		10	21	1	0	2.74318e-10	0.058154	3.21113e-10	10	21				
EMR2	30817	broad.mit.edu	37	19	14875276	14875276	+	Silent	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr19:14875276C>T	ENST00000315576.3	-	11	1504	c.1053G>A	c.(1051-1053)ggG>ggA	p.G351G	EMR2_ENST00000392965.3_Silent_p.G351G|EMR2_ENST00000596991.2_Silent_p.G351G|EMR2_ENST00000594294.1_Silent_p.G302G|EMR2_ENST00000392967.2_Silent_p.G351G|EMR2_ENST00000346057.1_Silent_p.G302G|EMR2_ENST00000601345.1_Silent_p.G351G|EMR2_ENST00000353876.1_Silent_p.G258G|EMR2_ENST00000595839.1_Silent_p.G209G|EMR2_ENST00000392964.3_Silent_p.G90G|EMR2_ENST00000594076.1_Silent_p.G258G|EMR2_ENST00000353005.1_Silent_p.G209G	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	351					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						AGTTCAACAGCCCATTGGAAA	0.572																																							uc002mzp.1		NA																	0				lung(2)|ovary(1)|skin(1)	4						c.(1051-1053)GGG>GGA		egf-like module containing, mucin-like, hormone							67.0	61.0	63.0					19																	14875276		2202	4299	6501	SO:0001819	synonymous_variant	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14875276C>T	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.1053G>A	19.37:g.14875276C>T						EMR2_uc010dzs.1_5'UTR|EMR2_uc010xnw.1_Silent_p.G351G|EMR2_uc002mzo.1_Silent_p.G351G|EMR2_uc002mzq.1_Silent_p.G302G|EMR2_uc002mzr.1_Silent_p.G302G|EMR2_uc002mzs.1_Silent_p.G209G|EMR2_uc002mzt.1_Silent_p.G258G|EMR2_uc002mzu.1_Silent_p.G258G|EMR2_uc010xnx.1_RNA|EMR2_uc010xny.1_RNA	p.G351G	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN			11	1509	-			351			Extracellular (Potential).		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Silent	SNP	ENST00000315576.3	37	c.1053G>A	CCDS32935.1																																																																																				0.572	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			4	26	0	0	0	0.217242	0	4	26				
NCAN	1463	broad.mit.edu	37	19	19337426	19337426	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr19:19337426C>A	ENST00000252575.6	+	7	1303	c.1204C>A	c.(1204-1206)Cct>Act	p.P402T	NCAN_ENST00000538881.1_5'Flank	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	402					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	GGTGGTCACCCCTGACTTCCA	0.597																																							uc002nlz.2		NA																	0				ovary(4)	4						c.(1204-1206)CCT>ACT		chondroitin sulfate proteoglycan 3 precursor							45.0	45.0	45.0					19																	19337426		2202	4300	6502	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19337426C>A	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.1204C>A	19.37:g.19337426C>A	ENSP00000252575:p.Pro402Thr					NCAN_uc010ecc.1_5'UTR	p.P402T	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		7	1303	+			402					Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.1204C>A	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	8.163	0.789905	0.16258	.	.	ENSG00000130287	ENST00000539499;ENST00000252575	D	0.84370	-1.84	5.42	0.749	0.18381	.	0.193367	0.25833	N	0.028017	T	0.69504	0.3118	L	0.29908	0.895	0.19300	N	0.999975	B	0.20550	0.046	B	0.17098	0.017	T	0.50792	-0.8786	10	0.22706	T	0.39	.	2.6589	0.05020	0.148:0.5443:0.1435:0.1642	.	402	O14594	NCAN_HUMAN	T	416;402	ENSP00000252575:P402T	ENSP00000252575:P402T	P	+	1	0	NCAN	19198426	0.000000	0.05858	0.003000	0.11579	0.092000	0.18411	-0.172000	0.09868	0.260000	0.21731	-0.315000	0.08773	CCT		0.597	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		4	26	1	0	0.00909568	0.150653	0.0093301	4	26				
NCAN	1463	broad.mit.edu	37	19	19338673	19338673	+	Silent	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr19:19338673G>A	ENST00000252575.6	+	8	2343	c.2244G>A	c.(2242-2244)acG>acA	p.T748T	NCAN_ENST00000538881.1_Silent_p.T199T	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	748					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CTGAGCCAACGGGCCTCAGGG	0.582																																							uc002nlz.2		NA																	0				ovary(4)	4						c.(2242-2244)ACG>ACA		chondroitin sulfate proteoglycan 3 precursor							63.0	68.0	66.0					19																	19338673		2203	4300	6503	SO:0001819	synonymous_variant	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19338673G>A	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.2244G>A	19.37:g.19338673G>A						NCAN_uc010ecc.1_Silent_p.T312T	p.T748T	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		8	2343	+			748					Q9UPK6	Silent	SNP	ENST00000252575.6	37	c.2244G>A	CCDS12397.1																																																																																				0.582	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		8	79	0	0	0	0.058154	0	8	79				
GMIP	51291	broad.mit.edu	37	19	19744910	19744910	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr19:19744910G>A	ENST00000203556.4	-	19	2311	c.2174C>T	c.(2173-2175)cCg>cTg	p.P725L	GMIP_ENST00000445806.2_Missense_Mutation_p.P696L|GMIP_ENST00000587238.1_Missense_Mutation_p.P699L|GMIP_ENST00000586269.1_5'Flank	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	725	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GGCTGCCCGCGGGCCGTCCGG	0.617																																							uc002nnd.2		NA																	0				ovary(1)	1						c.(2173-2175)CCG>CTG		GEM interacting protein							31.0	36.0	34.0					19																	19744910		2200	4290	6490	SO:0001583	missense	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19744910G>A	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.2174C>T	19.37:g.19744910G>A	ENSP00000203556:p.Pro725Leu					GMIP_uc010xrb.1_Missense_Mutation_p.P699L|GMIP_uc010xrc.1_Missense_Mutation_p.P696L	p.P725L	NM_016573	NP_057657	Q9P107	GMIP_HUMAN			19	2291	-			725			Rho-GAP.		A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.2174C>T	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	G	2.473	-0.321495	0.05386	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.23950	1.88;1.92	5.25	1.85	0.25348	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.165528	0.28958	N	0.013589	T	0.11965	0.0291	N	0.17082	0.46	0.19775	N	0.999953	B;B;B	0.19583	0.037;0.001;0.021	B;B;B	0.12837	0.008;0.004;0.004	T	0.14896	-1.0456	10	0.28530	T	0.3	-4.7599	4.7085	0.12861	0.0912:0.139:0.6114:0.1585	.	696;699;725	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	L	725;696	ENSP00000203556:P725L;ENSP00000397075:P696L	ENSP00000203556:P725L	P	-	2	0	GMIP	19605910	0.003000	0.15002	0.003000	0.11579	0.017000	0.09413	0.451000	0.21779	1.216000	0.43427	0.655000	0.94253	CCG		0.617	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		4	55	0	0	0	0.150653	0	4	55				
UQCRFS1	7386	broad.mit.edu	37	19	29698679	29698679	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr19:29698679C>G	ENST00000304863.4	-	2	1023	c.601G>C	c.(601-603)Gat>Cat	p.D201H		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	201	Rieske. {ECO:0000255|PROSITE- ProRule:PRU00628}.				cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			CGATCTAGATCATGCTGTGGG	0.453																																							uc002nsd.2		NA																	0					0						c.(601-603)GAT>CAT		ubiquinol-cytochrome c reductase, Rieske							98.0	106.0	103.0					19																	29698679		2203	4298	6501	SO:0001583	missense	7386				respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity	g.chr19:29698679C>G	BC010035	CCDS12415.1	19q12	2011-07-04			ENSG00000169021	ENSG00000169021	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12587	protein-coding gene	gene with protein product	"""cytochrome b-c1 complex subunit 5"""	191327				8088805	Standard	NM_006003		Approved	RIS1, RIP1, UQCR5, RISP	uc002nsd.2	P47985		ENST00000304863.4:c.601G>C	19.37:g.29698679C>G	ENSP00000306397:p.Asp201His						p.D201H	NM_006003	NP_005994	P47985	UCRI_HUMAN	Lung(7;0.092)		2	712	-	Breast(6;0.0545)|Esophageal squamous(110;0.239)		201			Rieske.		A8K519|Q6NVX5|Q9UPH2	Missense_Mutation	SNP	ENST00000304863.4	37	c.601G>C	CCDS12415.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017832	0.54576	.	.	ENSG00000169021	ENST00000304863	T	0.52754	0.65	5.42	5.42	0.78866	Ubiquinol-cytochrome c reductase, iron-sulphur subunit (1);Rieske [2Fe-2S] iron-sulphur domain (4);	0.000000	0.85682	D	0.000000	D	0.82328	0.5013	H	0.98883	4.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89725	0.3922	10	0.87932	D	0	.	18.2067	0.89857	0.0:1.0:0.0:0.0	.	201	P47985	UCRI_HUMAN	H	201	ENSP00000306397:D201H	ENSP00000306397:D201H	D	-	1	0	UQCRFS1	34390519	1.000000	0.71417	0.994000	0.49952	0.261000	0.26267	5.582000	0.67477	2.540000	0.85666	0.462000	0.41574	GAT		0.453	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458563.1	NM_006003		27	93	0	0	0	0.163468	0	27	93				
PRKD2	25865	broad.mit.edu	37	19	47181778	47181778	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr19:47181778C>A	ENST00000291281.4	-	16	2438	c.2213G>T	c.(2212-2214)gGc>gTc	p.G738V	PRKD2_ENST00000601806.1_Missense_Mutation_p.G581V|PRKD2_ENST00000433867.1_Missense_Mutation_p.G738V|PRKD2_ENST00000600194.1_Missense_Mutation_p.G581V|DACT3-AS1_ENST00000525008.1_RNA|PRKD2_ENST00000593492.1_5'Flank|PRKD2_ENST00000595515.1_Missense_Mutation_p.G738V			Q9BZL6	KPCD2_HUMAN	protein kinase D2	738	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CATGATCACGCCCACTGACCA	0.617																																							uc002pfh.2		NA																	0				ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7						c.(2212-2214)GGC>GTC		protein kinase D2 isoform A							170.0	122.0	138.0					19																	47181778		2203	4300	6503	SO:0001583	missense	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47181778C>A	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.2213G>T	19.37:g.47181778C>A	ENSP00000291281:p.Gly738Val					PRKD2_uc002pfd.2_Missense_Mutation_p.G112V|PRKD2_uc010eks.2_Missense_Mutation_p.G141V|PRKD2_uc010ekt.2_Missense_Mutation_p.G5V|PRKD2_uc002pfe.2_Missense_Mutation_p.G258V|PRKD2_uc002pff.2_Missense_Mutation_p.G258V|PRKD2_uc002pfg.2_Missense_Mutation_p.G581V|PRKD2_uc002pfi.2_Missense_Mutation_p.G738V|PRKD2_uc002pfj.2_Missense_Mutation_p.G738V|PRKD2_uc010xye.1_Missense_Mutation_p.G738V|PRKD2_uc002pfk.2_Missense_Mutation_p.G581V	p.G738V	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	17	2555	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	738			Protein kinase.		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	37	c.2213G>T	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922354	0.92319	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	D;D	0.97089	-4.24;-4.24	4.65	4.65	0.58169	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000004	D	0.99133	0.9701	H	0.98276	4.19	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	0.98920	1.0783	10	0.87932	D	0	-31.1686	16.7079	0.85377	0.0:1.0:0.0:0.0	.	738;223;738	E7ER94;A0JLT6;Q9BZL6	.;.;KPCD2_HUMAN	V	738	ENSP00000291281:G738V;ENSP00000393978:G738V	ENSP00000291281:G738V	G	-	2	0	PRKD2	51873618	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.736000	0.84948	2.308000	0.77769	0.563000	0.77884	GGC		0.617	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		20	47	1	0	9.95505e-16	0.069288	1.26182e-15	20	47				
ARHGAP35	2909	broad.mit.edu	37	19	47424426	47424426	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr19:47424426C>T	ENST00000404338.3	+	1	2494	c.2494C>T	c.(2494-2496)Cgg>Tgg	p.R832W		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	832					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										GCACAAGAAGCGGATTGAACT	0.423																																							uc010ekv.2		NA																	0				central_nervous_system(1)	1						c.(2494-2496)CGG>TGG		glucocorticoid receptor DNA binding factor 1							171.0	160.0	164.0					19																	47424426		1914	4122	6036	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47424426C>T	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2494C>T	19.37:g.47424426C>T	ENSP00000385720:p.Arg832Trp						p.R832W	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	1	2494	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	832					A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.2494C>T	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.501574	0.64298	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.48836	0.8	5.49	5.49	0.81192	.	0.207880	0.50627	D	0.000116	T	0.67183	0.2866	M	0.62723	1.935	0.54753	D	0.999983	D	0.89917	1.0	D	0.71870	0.975	T	0.68796	-0.5314	10	0.87932	D	0	-22.015	18.5057	0.90896	0.0:1.0:0.0:0.0	.	832	Q9NRY4-2	.	W	832	ENSP00000385720:R832W	ENSP00000324820:R832W	R	+	1	2	ARHGAP35	52116266	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.930000	0.56522	2.743000	0.94032	0.655000	0.94253	CGG		0.423	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		3	61	0	0	0	0.184627	0	3	61				
LRRC4B	94030	broad.mit.edu	37	19	51022413	51022413	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr19:51022413C>T	ENST00000599957.1	-	3	754	c.557G>A	c.(556-558)cGc>cAc	p.R186H	LRRC4B_ENST00000389201.3_Missense_Mutation_p.R186H			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	186					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CAGGTCCAGGCGCCGCAGCGA	0.652																																							uc002pss.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(556-558)CGC>CAC		leucine rich repeat containing 4B precursor							42.0	49.0	47.0					19																	51022413		2190	4296	6486	SO:0001583	missense	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51022413C>T	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.557G>A	19.37:g.51022413C>T	ENSP00000471502:p.Arg186His						p.R186H	NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	694	-		all_neural(266;0.131)	186			LRR 5.|Extracellular (Potential).		Q3ZCQ4|Q58F20	Missense_Mutation	SNP	ENST00000599957.1	37	c.557G>A	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842810	0.71488	.	.	ENSG00000131409	ENST00000389201;ENST00000535879	D	0.91464	-2.85	4.05	4.05	0.47172	.	0.000000	0.64402	U	0.000006	D	0.83727	0.5317	N	0.14661	0.345	0.58432	D	0.999998	P	0.44627	0.839	P	0.44422	0.449	T	0.83105	-0.0126	10	0.28530	T	0.3	.	14.1265	0.65225	0.0:1.0:0.0:0.0	.	186	Q9NT99	LRC4B_HUMAN	H	186	ENSP00000373853:R186H	ENSP00000373853:R186H	R	-	2	0	LRRC4B	55714225	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.645000	0.83430	2.283000	0.76528	0.491000	0.48974	CGC		0.652	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		8	28	0	0	0	0.038147	0	8	28				
KLK13	26085	broad.mit.edu	37	19	51563323	51563323	+	Missense_Mutation	SNP	G	G	T	rs138178458	byFrequency	TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr19:51563323G>T	ENST00000595793.1	-	3	309	c.267C>A	c.(265-267)caC>caA	p.H89Q	KLK13_ENST00000596955.1_Missense_Mutation_p.H89Q|KLK13_ENST00000595547.1_Missense_Mutation_p.H89Q|KLK13_ENST00000335422.3_Intron	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	89	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		GCCCTAGGGCGTGCTTGCCTA	0.577																																							uc002pvn.2		NA																	0					0						c.(265-267)CAC>CAA		kallikrein 13 precursor							64.0	67.0	66.0					19																	51563323		2203	4300	6503	SO:0001583	missense	26085				proteolysis		protein binding|serine-type endopeptidase activity	g.chr19:51563323G>T		CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"""Kallikreins"""	6361	protein-coding gene	gene with protein product		605505	"""kallikrein 13"""			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.267C>A	19.37:g.51563323G>T	ENSP00000470555:p.His89Gln					KLK13_uc002pvl.2_RNA|KLK13_uc002pvm.2_RNA|KLK13_uc002pvo.2_RNA|KLK13_uc002pvp.2_RNA|KLK13_uc010eon.2_Missense_Mutation_p.H89Q|KLK13_uc002pvq.2_RNA|KLK13_uc010eoo.2_Intron|KLK13_uc002pvr.2_Missense_Mutation_p.H89Q	p.H89Q	NM_015596	NP_056411	Q9UKR3	KLK13_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)	3	310	-		all_neural(266;0.026)	89			Peptidase S1.		A7UNK6|Q86VI8|Q9Y433	Missense_Mutation	SNP	ENST00000595793.1	37	c.267C>A	CCDS12822.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.29|12.29	1.893590|1.893590	0.33442|0.33442	.|.	.|.	ENSG00000167759|ENSG00000167759	ENST00000156476|ENST00000376799	D|.	0.89746|.	-2.56|.	3.63|3.63	-4.57|-4.57	0.03421|0.03421	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	0.000000|.	0.48767|.	D|.	0.000172|.	T|T	0.71904|0.71904	0.3395|0.3395	M|M	0.82923|0.82923	2.615|2.615	0.80722|0.80722	D|D	1|1	B;D;D|.	0.69078|.	0.292;0.997;0.994|.	B;D;D|.	0.67231|.	0.104;0.95;0.938|.	T|T	0.75133|0.75133	-0.3425|-0.3425	10|6	0.87932|0.87932	D|D	0|0	.|.	11.5282|11.5282	0.50593|0.50593	0.3448:0.0:0.6552:0.0|0.3448:0.0:0.6552:0.0	.|.	89;89;89|.	Q86VI7;B5BUM9;Q9UKR3|.	.;.;KLK13_HUMAN|.	Q|S	89|91	ENSP00000156476:H89Q|.	ENSP00000156476:H89Q|ENSP00000365995:R91S	H|R	-|-	3|1	2|0	KLK13|KLK13	56255135|56255135	0.000000|0.000000	0.05858|0.05858	0.909000|0.909000	0.35828|0.35828	0.384000|0.384000	0.30261|0.30261	-0.981000|-0.981000	0.03766|0.03766	-1.284000|-1.284000	0.02390|0.02390	-1.319000|-1.319000	0.01295|0.01295	CAC|CGC		0.577	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464298.2	NM_015596		12	53	1	0	8.60227e-14	0.146539	1.0567e-13	12	53				
SIGLEC14	100049587	broad.mit.edu	37	19	52147227	52147227	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr19:52147227C>T	ENST00000360844.6	-	5	858	c.817G>A	c.(817-819)Gcc>Acc	p.A273T	SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000534261.2_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	273	Ig-like C2-type 2.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		ACTGTGCAGGCGAGGAACAGG	0.617																																							uc002pxf.3		NA																	0				ovary(1)	1						c.(817-819)GCC>ACC		sialic acid binding Ig-like lectin 14 precursor							31.0	36.0	35.0					19																	52147227		1910	4073	5983	SO:0001583	missense	100049587				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	g.chr19:52147227C>T	AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.817G>A	19.37:g.52147227C>T	ENSP00000354090:p.Ala273Thr						p.A273T	NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)	5	937	-		all_neural(266;0.0299)	273			Extracellular (Potential).|Ig-like C2-type 2.		Q6UXG0	Missense_Mutation	SNP	ENST00000360844.6	37	c.817G>A	CCDS42604.1	.	.	.	.	.	.	.	.	.	.	C	9.799	1.180124	0.21787	.	.	ENSG00000254415	ENST00000360844	T	0.09350	2.99	3.09	-4.16	0.03869	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.097870	0.03221	N	0.177512	T	0.03477	0.0100	N	0.01576	-0.805	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.38134	-0.9675	10	0.51188	T	0.08	.	2.3645	0.04315	0.2476:0.472:0.1598:0.1206	.	273	Q08ET2	SIG14_HUMAN	T	273	ENSP00000354090:A273T	ENSP00000354090:A273T	A	-	1	0	SIGLEC14	56839039	0.000000	0.05858	0.005000	0.12908	0.000000	0.00434	-0.657000	0.05335	-0.327000	0.08551	-1.730000	0.00700	GCC		0.617	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466899.2	NM_001098612		6	9	0	0	0	0.217242	0	6	9				
ZNF761	388561	broad.mit.edu	37	19	53959918	53959918	+	RNA	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr19:53959918G>T	ENST00000454407.1	+	0	2610							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AACCTTACAAGTGTAATGAGT	0.398																																							uc010eqp.2		NA																	0				ovary(1)	1						c.(2155-2157)AAG>AAT		zinc finger protein 761							111.0	112.0	111.0					19																	53959918		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53959918G>T	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53959918G>T						ZNF761_uc010ydy.1_Missense_Mutation_p.K665N|ZNF761_uc002qbt.1_Missense_Mutation_p.K665N	p.K719N	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	7	2615	+			719			C2H2-type 19.		Q6ZNB9	Missense_Mutation	SNP	ENST00000454407.1	37	c.2157G>T																																																																																					0.398	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		36	107	1	0	3.33393e-15	0.214465	4.19907e-15	36	107				
ZIM2	23619	broad.mit.edu	37	19	57301308	57301308	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr19:57301308G>C	ENST00000391708.3	-	9	951	c.409C>G	c.(409-411)Cag>Gag	p.Q137E	ZIM2_ENST00000599935.1_Missense_Mutation_p.Q137E|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.Q137E|ZIM2_ENST00000601070.1_Missense_Mutation_p.Q137E|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000221722.5_Missense_Mutation_p.Q137E	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	137					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		ACAGAGTCCTGAGCAAGGAAA	0.522																																							uc002qnr.2		NA																	0				ovary(3)	3						c.(409-411)CAG>GAG		zinc finger, imprinted 2							66.0	55.0	58.0					19																	57301308		2203	4300	6503	SO:0001583	missense	23619				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57301308G>C	AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"""Zinc fingers, C2H2-type"""	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.409C>G	19.37:g.57301308G>C	ENSP00000375589:p.Gln137Glu					uc010ygp.1_RNA|uc002qnp.1_RNA|ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnq.2_Missense_Mutation_p.Q137E|ZIM2_uc010etp.2_Missense_Mutation_p.Q137E|ZIM2_uc010ygs.1_Missense_Mutation_p.Q137E	p.Q137E	NM_015363	NP_056178	Q9NZV7	ZIM2_HUMAN		GBM - Glioblastoma multiforme(193;0.0314)	8	791	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	137					Q2M3K1	Missense_Mutation	SNP	ENST00000391708.3	37	c.409C>G	CCDS33123.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.859043	0.00065	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.03553	3.89;3.89	4.64	2.44	0.29823	.	.	.	.	.	T	0.01523	0.0049	N	0.08118	0	.	.	.	B	0.30068	0.267	B	0.22601	0.04	T	0.36237	-0.9756	8	0.02654	T	1	.	6.3869	0.21566	0.1004:0.1853:0.7143:0.0	.	137	Q9NZV7	ZIM2_HUMAN	E	137	ENSP00000375589:Q137E;ENSP00000221722:Q137E	ENSP00000221722:Q137E	Q	-	1	0	ZIM2	61993120	0.012000	0.17670	0.001000	0.08648	0.003000	0.03518	0.771000	0.26633	0.654000	0.30846	-0.251000	0.11542	CAG		0.522	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2			8	16	0	0	0	0.069234	0	8	16				
SLC8A1	6546	broad.mit.edu	37	2	40655667	40655667	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr2:40655667C>T	ENST00000403092.1	-	2	1787	c.1754G>A	c.(1753-1755)gGg>gAg	p.G585E	SLC8A1_ENST00000406391.2_Missense_Mutation_p.G585E|SLC8A1_ENST00000402441.1_Missense_Mutation_p.G585E|SLC8A1_ENST00000405269.1_Missense_Mutation_p.G585E|SLC8A1_ENST00000405901.3_Missense_Mutation_p.G585E|SLC8A1_ENST00000406785.2_Missense_Mutation_p.G585E|SLC8A1_ENST00000542756.1_Missense_Mutation_p.G585E|SLC8A1_ENST00000542024.1_Missense_Mutation_p.G585E|SLC8A1_ENST00000408028.2_Missense_Mutation_p.G585E|SLC8A1_ENST00000332839.4_Missense_Mutation_p.G585E			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	585	Calx-beta 2.				blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AAAATCCTCCCCTCCACCTCT	0.428																																							uc002rrx.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1753-1755)GGG>GAG		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						83.0	85.0	84.0					2																	40655667		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40655667C>T		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1754G>A	2.37:g.40655667C>T	ENSP00000384763:p.Gly585Glu					SLC8A1_uc002rry.2_Missense_Mutation_p.G585E|SLC8A1_uc002rrz.2_Missense_Mutation_p.G585E|SLC8A1_uc002rsa.2_Missense_Mutation_p.G585E|SLC8A1_uc002rsd.3_Missense_Mutation_p.G585E|SLC8A1_uc002rsb.1_Missense_Mutation_p.G585E|SLC8A1_uc010fan.1_Missense_Mutation_p.G585E|SLC8A1_uc002rsc.1_Missense_Mutation_p.G585E	p.G585E	NM_021097	NP_066920	P32418	NAC1_HUMAN			1	1778	-			585			Calx-beta 2.|Cytoplasmic (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.1754G>A	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606492	0.66445	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09	5.86	5.86	0.93980	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.74589	0.3736	M	0.93594	3.435	0.80722	D	1	D;D;D;P;D	0.89917	1.0;1.0;1.0;0.917;1.0	D;D;D;P;D	0.97110	1.0;0.996;1.0;0.584;1.0	T	0.80360	-0.1415	10	0.87932	D	0	.	18.0523	0.89353	0.0:1.0:0.0:0.0	.	585;585;585;585;585	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	E	585	ENSP00000383886:G585E;ENSP00000440727:G585E;ENSP00000384763:G585E;ENSP00000385678:G585E;ENSP00000385188:G585E;ENSP00000385535:G585E;ENSP00000332931:G585E;ENSP00000384908:G585E;ENSP00000385811:G585E;ENSP00000443515:G585E	ENSP00000332931:G585E	G	-	2	0	SLC8A1	40509171	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.621000	0.83083	2.937000	0.99478	0.650000	0.86243	GGG		0.428	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		16	40	0	0	0	0.146539	0	16	40				
ANTXR1	84168	broad.mit.edu	37	2	69318050	69318050	+	Splice_Site	SNP	A	A	G			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr2:69318050A>G	ENST00000303714.4	+	9	1024	c.702A>G	c.(700-702)ggA>ggG	p.G234G	ANTXR1_ENST00000409829.3_Splice_Site_p.G234G|ANTXR1_ENST00000409349.3_Splice_Site_p.G234G	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	234					actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TATGTGCAGGAGGTAAATTGA	0.388									Familial Infantile Hemangioma																														uc002sfg.2		NA																	0				ovary(2)|skin(2)	4						c.(700-702)GGA>GGG		anthrax toxin receptor 1 isoform 1 precursor							92.0	90.0	91.0					2																	69318050		2203	4300	6503	SO:0001630	splice_region_variant	84168	Familial_Infantile_Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	g.chr2:69318050A>G	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.703+1A>G	2.37:g.69318050A>G						ANTXR1_uc002sfe.2_Silent_p.G234G|ANTXR1_uc002sff.2_Silent_p.G234G|ANTXR1_uc002sfd.2_Silent_p.G234G	p.G234G	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN			9	1058	+			234			Extracellular (Potential).		A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Silent	SNP	ENST00000303714.4	37	c.702A>G	CCDS1892.1	.	.	.	.	.	.	.	.	.	.	A	14.35	2.510381	0.44660	.	.	ENSG00000169604	ENST00000482235	.	.	.	5.55	1.78	0.24846	.	.	.	.	.	T	0.51160	0.1658	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35351	-0.9792	4	.	.	.	-19.4377	4.7242	0.12933	0.6715:0.1608:0.1677:0.0	.	.	.	.	G	66	.	.	E	+	2	0	ANTXR1	69171554	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.489000	0.45285	0.151000	0.19162	0.533000	0.62120	GAG		0.388	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208	Silent	4	48	0	0	0	0.184627	0	4	48				
EIF5B	9669	broad.mit.edu	37	2	99978277	99978277	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr2:99978277G>A	ENST00000289371.6	+	4	1115	c.913G>A	c.(913-915)Gca>Aca	p.A305T		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	305					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCCCACAGCTGCAGAAGGTTG	0.388																																					Colon(162;2388 2567 2705 3444)	Colon(162;2388 2567 2705 3444)	uc002tab.2		NA																	0				ovary(2)|pancreas(1)	3						c.(913-915)GCA>ACA		eukaryotic translation initiation factor 5B							78.0	77.0	78.0					2																	99978277		1846	4079	5925	SO:0001583	missense	9669				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chr2:99978277G>A	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.913G>A	2.37:g.99978277G>A	ENSP00000289371:p.Ala305Thr						p.A305T	NM_015904	NP_056988	O60841	IF2P_HUMAN			4	1097	+			305					O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	ENST00000289371.6	37	c.913G>A	CCDS42721.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.465129	0.26335	.	.	ENSG00000158417	ENST00000289371	T	0.47869	0.83	5.92	0.335	0.15953	.	.	.	.	.	T	0.34745	0.0908	L	0.50333	1.59	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24728	-1.0152	8	.	.	.	-0.9202	3.3321	0.07088	0.1526:0.237:0.4886:0.1218	.	305	O60841	IF2P_HUMAN	T	305	ENSP00000289371:A305T	.	A	+	1	0	EIF5B	99344709	0.011000	0.17503	0.001000	0.08648	0.996000	0.88848	1.032000	0.30178	0.043000	0.15746	0.655000	0.94253	GCA		0.388	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904		36	51	0	0	0	0.203993	0	36	51				
CNOT11	55571	broad.mit.edu	37	2	101885540	101885540	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr2:101885540A>T	ENST00000289382.3	+	6	1440	c.1277A>T	c.(1276-1278)cAc>cTc	p.H426L	RNF149_ENST00000485752.1_5'Flank	NM_017546.4	NP_060016.3	Q9UKZ1	CNO11_HUMAN	CCR4-NOT transcription complex, subunit 11	426					cell proliferation (GO:0008283)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|nucleus (GO:0005634)											GAATTTATTCACCTTTATATA	0.299																																							uc002taw.3		NA																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(1276-1278)CAC>CTC		hypothetical protein LOC55571							72.0	71.0	71.0					2																	101885540		2200	4299	6499	SO:0001583	missense	55571				cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol		g.chr2:101885540A>T	AF103798	CCDS2050.1	2q12.1	2013-01-24	2013-01-24	2013-01-24	ENSG00000158435	ENSG00000158435			25217	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 29"""	C2orf29		10497265, 23232451, 23303381	Standard	NM_017546		Approved	C40	uc002taw.4	Q9UKZ1	OTTHUMG00000130686	ENST00000289382.3:c.1277A>T	2.37:g.101885540A>T	ENSP00000289382:p.His426Leu						p.H426L	NM_017546	NP_060016	Q9UKZ1	CB029_HUMAN			6	1359	+			426					Q6P2M9|Q8N681	Missense_Mutation	SNP	ENST00000289382.3	37	c.1277A>T	CCDS2050.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.845537	0.91197	.	.	ENSG00000158435	ENST00000289382	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.84737	0.5538	M	0.90595	3.13	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.87123	0.2192	9	0.54805	T	0.06	-27.8893	16.4484	0.83959	1.0:0.0:0.0:0.0	.	426	Q9UKZ1	CB029_HUMAN	L	426	.	ENSP00000289382:H426L	H	+	2	0	C2orf29	101251972	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.180000	0.94867	2.285000	0.76669	0.533000	0.62120	CAC		0.299	CNOT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253181.1	NM_017546		6	27	0	0	0	0.02938	0	6	27				
RGPD4	285190	broad.mit.edu	37	2	108475942	108475942	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr2:108475942A>T	ENST00000408999.3	+	11	1643	c.1566A>T	c.(1564-1566)aaA>aaT	p.K522N	RGPD4_ENST00000354986.4_Missense_Mutation_p.K522N	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	522					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CTGTATGTAAACAGCTTTGTA	0.393																																							uc010ywk.1		NA																	0				skin(2)	2						c.(1564-1566)AAA>AAT		RANBP2-like and GRIP domain containing 4							131.0	111.0	117.0					2																	108475942		692	1591	2283	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108475942A>T	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.1566A>T	2.37:g.108475942A>T	ENSP00000386810:p.Lys522Asn					RGPD4_uc002tdu.2_5'UTR|RGPD4_uc010ywl.1_RNA	p.K522N	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN			11	1648	+			522					B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.1566A>T	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	6.559	0.471385	0.12461	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.46819	0.86;0.86	2.6	1.4	0.22301	.	.	.	.	.	T	0.38957	0.1060	L	0.60455	1.87	0.24366	N	0.994854	B	0.29085	0.232	B	0.23716	0.048	T	0.25433	-1.0132	9	0.41790	T	0.15	-17.1324	6.2734	0.20966	0.8661:0.0:0.1339:0.0	.	522	Q7Z3J3	RGPD4_HUMAN	N	522;522;280	ENSP00000347081:K522N;ENSP00000386810:K522N	ENSP00000347081:K522N	K	+	3	2	RGPD4	107842374	1.000000	0.71417	0.996000	0.52242	0.123000	0.20343	1.566000	0.36396	0.153000	0.19213	0.128000	0.15822	AAA		0.393	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		88	221	0	0	0	0.139131	0	88	221				
LRP1B	53353	broad.mit.edu	37	2	141625810	141625811	+	Missense_Mutation	DNP	CC	CC	TA			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr2:141625810_141625811CC>TA	ENST00000389484.3	-	26	5162_5163	c.4191_4192GG>TA	c.(4189-4194)tgGGat>tgTAat	p.1397_1398WD>CN		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1397					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAATTTGCATCCCAGTCTGTCC	0.351										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(4189-4194)TGGGAT>TGTAAT		low density lipoprotein-related protein 1B																																				SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141625810_141625811CC>TA	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4191_4192delinsTA	2.37:g.141625810_141625811delinsTA	ENSP00000374135:p.W1397_D1398delinsCN	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Missense_Mutation_p.579_580WD>CN	p.1397_1398WD>CN	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	26	5163_5164	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1397_1398			Extracellular (Potential).|LDL-receptor class B 11.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	DNP	ENST00000389484.3	37	c.4191_4192GG>TA	CCDS2182.1																																																																																				0.351	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		7	39	0	0	0	0.115264	0	7	39				
NR4A2	4929	broad.mit.edu	37	2	157182419	157182419	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr2:157182419C>T	ENST00000339562.4	-	8	1996	c.1634G>A	c.(1633-1635)gGg>gAg	p.G545E	NR4A2_ENST00000409572.1_Missense_Mutation_p.G545E|NR4A2_ENST00000426264.1_Missense_Mutation_p.G482E|NR4A2_ENST00000429376.1_Silent_p.G447G|NR4A2_ENST00000539077.1_Missense_Mutation_p.G556E|NR4A2_ENST00000409108.2_Silent_p.G510G	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	545					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GCGGTTCAACCCCCCATTGTT	0.478																																							uc002tyz.3		NA																	0				ovary(3)	3						c.(1633-1635)GGG>GAG		nuclear receptor subfamily 4, group A, member 2							113.0	115.0	115.0					2																	157182419		2203	4300	6503	SO:0001583	missense	4929				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr2:157182419C>T	X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.1634G>A	2.37:g.157182419C>T	ENSP00000344479:p.Gly545Glu					NR4A2_uc002tyx.3_Missense_Mutation_p.G482E|NR4A2_uc010zcf.1_Missense_Mutation_p.G545E	p.G545E	NM_006186	NP_006177	P43354	NR4A2_HUMAN			8	2056	-			545					Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	37	c.1634G>A	CCDS2201.1	.	.	.	.	.	.	.	.	.	.	C	2.828	-0.243238	0.05906	.	.	ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077	D;D;D;D	0.96168	-3.93;-3.93;-3.93;-3.93	6.06	6.06	0.98353	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.096415	0.64402	D	0.000001	D	0.85239	0.5651	N	0.00926	-1.1	0.80722	D	1	B	0.26672	0.156	B	0.23574	0.047	D	0.83578	0.0116	10	0.06099	T	0.92	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	545	P43354	NR4A2_HUMAN	E	545;482;545;556	ENSP00000344479:G545E;ENSP00000389986:G482E;ENSP00000386747:G545E;ENSP00000444925:G556E	ENSP00000344479:G545E	G	-	2	0	NR4A2	156890665	1.000000	0.71417	0.974000	0.42286	0.985000	0.73830	6.089000	0.71384	2.882000	0.98803	0.655000	0.94253	GGG		0.478	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2			3	60	0	0	0	0.150653	0	3	60				
TTN	7273	broad.mit.edu	37	2	179616751	179616751	+	Intron	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr2:179616751C>A	ENST00000591111.1	-	45	10585				TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.G3459V|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAGATTCCCCCTCAGAGAA	0.323																																							uc002unb.2		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(10375-10377)GGG>GTG		titin isoform novex-3							91.0	103.0	99.0					2																	179616751		2198	4294	6492	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179616751C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+1099G>T	2.37:g.179616751C>A						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.G3459V	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	10600	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.10376G>T		.	.	.	.	.	.	.	.	.	.	C	3.430	-0.116204	0.06881	.	.	ENSG00000155657	ENST00000360870;ENST00000446208	T	0.57907	0.37	5.86	-3.91	0.04168	.	.	.	.	.	T	0.31136	0.0787	N	0.14661	0.345	0.09310	N	0.999998	B	0.26258	0.145	B	0.29785	0.107	T	0.32455	-0.9906	9	0.16896	T	0.51	.	10.8616	0.46829	0.0:0.1458:0.1146:0.7396	.	3459	Q8WZ42-6	.	V	3459;64	ENSP00000354117:G3459V	ENSP00000354117:G3459V	G	-	2	0	TTN	179324996	0.000000	0.05858	0.015000	0.15790	0.779000	0.44077	0.246000	0.18160	-0.634000	0.05538	0.655000	0.94253	GGG		0.323	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	89	1	0	3.51602e-12	0.204396	4.24053e-12	18	89				
PIKFYVE	200576	broad.mit.edu	37	2	209190010	209190010	+	Silent	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr2:209190010G>T	ENST00000264380.4	+	20	2633	c.2475G>T	c.(2473-2475)ctG>ctT	p.L825L		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	825					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CCAAGACACTGATGTTTTTTG	0.378																																							uc002vcz.2		NA																	0				ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						c.(2473-2475)CTG>CTT		phosphatidylinositol-3-phosphate 5-kinase type							50.0	46.0	48.0					2																	209190010		2203	4300	6503	SO:0001819	synonymous_variant	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209190010G>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.2475G>T	2.37:g.209190010G>T						PIKFYVE_uc010fun.1_Silent_p.L506L|PIKFYVE_uc002vcy.1_Silent_p.L769L	p.L825L	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			20	2633	+			825					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Silent	SNP	ENST00000264380.4	37	c.2475G>T	CCDS2382.1																																																																																				0.378	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		5	26	1	0	0.00198382	0.02938	0.00208878	5	26				
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	40								p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358																																							uc010ztl.1		NA																	4	Substitution - Missense(4)		prostate(4)		0						c.(28-30)ATC>ACC		Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.																																				SO:0001583	missense	284802							g.chr20:29625875T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.119T>C	20.37:g.29625875T>C	ENSP00000278882:p.Ile40Thr					FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Intron	p.I10T							2	61	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.29T>C		.	.	.	.	.	.	.	.	.	.	t	10.51	1.369778	0.24771	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.51071	0.72	1.68	1.68	0.24146	.	0.052751	0.64402	D	0.000001	T	0.59865	0.2225	.	.	.	0.51482	D	0.999924	P	0.49862	0.929	D	0.64687	0.928	T	0.59386	-0.7464	9	0.52906	T	0.07	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	45	F5H5R5	.	T	40;45;40	ENSP00000408863:I45T	ENSP00000278882:I40T	I	+	2	0	FRG1B	28239536	1.000000	0.71417	0.982000	0.44146	0.025000	0.11179	6.565000	0.73974	1.028000	0.39785	0.155000	0.16302	ATC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	64	0	0	0	0.217242	0	4	64				
TPX2	22974	broad.mit.edu	37	20	30345327	30345327	+	Silent	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr20:30345327C>T	ENST00000300403.6	+	3	576	c.48C>T	c.(46-48)ttC>ttT	p.F16F	TPX2_ENST00000340513.4_Silent_p.F16F	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	16					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			CCTCGGATTTCATCAATTTTT	0.398																																							uc002wwp.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(46-48)TTC>TTT		TPX2, microtubule-associated protein homolog							169.0	158.0	162.0					20																	30345327		2203	4300	6503	SO:0001819	synonymous_variant	22974				activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	g.chr20:30345327C>T	AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"""chromosome 20 open reading frame 1"", ""TPX2, microtubule-associated, homolog (Xenopus laevis)"""	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.48C>T	20.37:g.30345327C>T						TPX2_uc010gdv.1_Silent_p.F16F	p.F16F	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)		3	746	+			16					Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Silent	SNP	ENST00000300403.6	37	c.48C>T	CCDS13190.1																																																																																				0.398	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2			17	57	0	0	0	0.189662	0	17	57				
MTG2	26164	broad.mit.edu	37	20	60768505	60768505	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr20:60768505G>T	ENST00000370823.3	+	2	47	c.29G>T	c.(28-30)aGa>aTa	p.R10I	MTG2_ENST00000436421.2_Missense_Mutation_p.R10I|MTG2_ENST00000536470.1_Intron	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	10					GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)										TTCTCAGCAAGATTGAGGACC	0.542																																							uc002yce.3		NA																	0					0						c.(28-30)AGA>ATA		GTP binding protein 5							105.0	106.0	106.0					20																	60768505		2203	4300	6503	SO:0001583	missense	26164				ribosome biogenesis	mitochondrion	GTP binding|GTPase activity|magnesium ion binding	g.chr20:60768505G>T	AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"""GTP-binding protein 5 (putative)"", ""GTP binding protein 5 (putative)"""	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.29G>T	20.37:g.60768505G>T	ENSP00000359859:p.Arg10Ile					GTPBP5_uc011aab.1_Intron|GTPBP5_uc011aac.1_Intron|GTPBP5_uc011aad.1_5'UTR|GTPBP5_uc011aae.1_Intron|GTPBP5_uc011aaf.1_Missense_Mutation_p.R10I|GTPBP5_uc011aag.1_Missense_Mutation_p.R10I	p.R10I	NM_015666	NP_056481	Q9H4K7	GTPB5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.5e-08)		2	67	+	Breast(26;3.52e-09)		10					A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Missense_Mutation	SNP	ENST00000370823.3	37	c.29G>T	CCDS13492.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.317312	0.40996	.	.	ENSG00000101181	ENST00000436421;ENST00000370823;ENST00000448254	T;T;T	0.24723	1.84;2.72;2.21	5.0	3.95	0.45737	.	1.342020	0.04818	N	0.436357	T	0.30603	0.0770	L	0.60455	1.87	0.09310	N	1	P;P;P	0.36616	0.561;0.561;0.561	B;B;B	0.34242	0.178;0.125;0.088	T	0.33803	-0.9854	10	0.87932	D	0	-6.7232	11.3378	0.49513	0.0:0.0:0.8061:0.1939	.	10;10;10	Q5JXJ0;E7EU10;Q9H4K7	.;.;GTPB5_HUMAN	I	10	ENSP00000392267:R10I;ENSP00000359859:R10I;ENSP00000414693:R10I	ENSP00000359859:R10I	R	+	2	0	GTPBP5	60201900	0.016000	0.18221	0.006000	0.13384	0.024000	0.10985	1.838000	0.39211	2.305000	0.77605	0.650000	0.86243	AGA		0.542	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079989.1	NM_015666		7	116	1	0	1.12685e-05	0.047766	1.25276e-05	7	116				
COL9A3	1299	broad.mit.edu	37	20	61460123	61460123	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr20:61460123C>A	ENST00000343916.3	+	18	911	c.908C>A	c.(907-909)cCg>cAg	p.P303Q		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	303	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CAGGGCATGCCGGGCAAGGAC	0.682																																							uc002ydm.2		NA																	0					0						c.(907-909)CCG>CAG		alpha 3 type IX collagen precursor							49.0	46.0	47.0					20																	61460123		2201	4299	6500	SO:0001583	missense	1299				axon guidance	collagen type IX		g.chr20:61460123C>A	AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2219	protein-coding gene	gene with protein product	"""collagen type IX proteoglycan"""	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.908C>A	20.37:g.61460123C>A	ENSP00000341640:p.Pro303Gln						p.P303Q	NM_001853	NP_001844	Q14050	CO9A3_HUMAN			18	911	+	Breast(26;5.68e-08)		303			Triple-helical region 3 (COL3).		Q13681|Q9H4G9|Q9UPE2	Missense_Mutation	SNP	ENST00000343916.3	37	c.908C>A	CCDS13505.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939287	0.73557	.	.	ENSG00000092758	ENST00000343916	D	0.97089	-4.24	3.93	3.93	0.45458	.	0.119276	0.64402	D	0.000019	D	0.97495	0.9180	L	0.56340	1.77	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	D	0.97267	0.9908	10	0.45353	T	0.12	.	15.0251	0.71663	0.0:1.0:0.0:0.0	.	303	Q14050	CO9A3_HUMAN	Q	303	ENSP00000341640:P303Q	ENSP00000341640:P303Q	P	+	2	0	COL9A3	60930568	0.989000	0.36119	0.995000	0.50966	0.740000	0.42216	2.883000	0.48554	2.200000	0.70718	0.448000	0.29417	CCG		0.682	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080071.2	NM_001853		9	28	1	0	2.17888e-05	0.058154	2.3824e-05	9	28				
HSPA13	6782	broad.mit.edu	37	21	15750686	15750686	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr21:15750686C>A	ENST00000285667.3	-	3	481	c.414G>T	c.(412-414)gaG>gaT	p.E138D	HSPA13_ENST00000478035.1_5'UTR|HSPA13_ENST00000544452.1_Intron	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	138						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						CTGTGATGGTCTCATTACTTG	0.368																																							uc002yjt.2		NA																	0				kidney(1)	1						c.(412-414)GAG>GAT		heat shock protein 70kDa family member 13							94.0	86.0	89.0					21																	15750686		2203	4300	6503	SO:0001583	missense	6782					endoplasmic reticulum|microsome	ATP binding	g.chr21:15750686C>A		CCDS13567.1	21q11.1	2011-09-02	2008-06-17	2008-06-17	ENSG00000155304	ENSG00000155304		"""Heat shock proteins / HSP70"""	11375	protein-coding gene	gene with protein product		601100	"""stress 70 protein chaperone, microsome-associated, 60kD"", ""stress 70 protein chaperone, microsome-associated, 60kDa"""	STCH		8825657	Standard	NM_006948		Approved		uc002yjt.3	P48723	OTTHUMG00000074261	ENST00000285667.3:c.414G>T	21.37:g.15750686C>A	ENSP00000285667:p.Glu138Asp					HSPA13_uc011abx.1_Intron	p.E138D	NM_006948	NP_008879	P48723	HSP13_HUMAN			3	483	-			138					B2R616|Q8NE40	Missense_Mutation	SNP	ENST00000285667.3	37	c.414G>T	CCDS13567.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.578069	0.45902	.	.	ENSG00000155304	ENST00000285667	T	0.01172	5.23	5.88	1.41	0.22369	.	0.432965	0.27787	N	0.017845	T	0.00724	0.0024	N	0.05351	-0.065	0.80722	D	1	P	0.36354	0.549	B	0.30943	0.122	T	0.72418	-0.4300	10	0.72032	D	0.01	-15.7104	10.0362	0.42131	0.0:0.5034:0.0:0.4966	.	138	P48723	HSP13_HUMAN	D	138	ENSP00000285667:E138D	ENSP00000285667:E138D	E	-	3	2	HSPA13	14672557	0.989000	0.36119	1.000000	0.80357	0.955000	0.61496	0.126000	0.15769	0.213000	0.20722	0.655000	0.94253	GAG		0.368	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157815.1			10	38	1	0	1.61879e-10	0.09319	1.90615e-10	10	38				
EVA1C	59271	broad.mit.edu	37	21	33887132	33887132	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr21:33887132G>C	ENST00000300255.2	+	8	1431	c.958G>C	c.(958-960)Gag>Cag	p.E320Q	EVA1C_ENST00000401402.3_Missense_Mutation_p.E272Q|EVA1C_ENST00000485488.1_3'UTR|EVA1C_ENST00000382699.3_Missense_Mutation_p.E317Q	NM_058187.3	NP_478067.2	P58658	EVA1C_HUMAN	eva-1 homolog C (C. elegans)	320						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										AGCCCACCCGGAGAGAGCTGC	0.612																																							uc002ypr.1		NA																	0				ovary(2)|pancreas(1)	3						c.(958-960)GAG>CAG		hypothetical protein LOC59271 precursor							38.0	40.0	39.0					21																	33887132		2203	4300	6503	SO:0001583	missense	59271					integral to membrane	sugar binding	g.chr21:33887132G>C	AF358258	CCDS13614.1, CCDS68186.1	21q22.11	2012-11-05	2012-11-05	2012-11-05	ENSG00000166979	ENSG00000166979			13239	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 64"", ""chromosome 21 open reading frame 63"", ""family with sequence similarity 176, member C"""	C21orf64, C21orf63, FAM176C		11707072, 19470522	Standard	NM_058187		Approved	B18, PRED34, B19	uc002ypr.1	P58658	OTTHUMG00000064922	ENST00000300255.2:c.958G>C	21.37:g.33887132G>C	ENSP00000300255:p.Glu320Gln					C21orf63_uc002yps.1_RNA|C21orf63_uc010glw.1_Missense_Mutation_p.E317Q|C21orf63_uc002ypt.1_RNA|C21orf63_uc002ypu.1_Missense_Mutation_p.E225Q|C21orf63_uc011adq.1_Silent_p.R19R	p.E320Q	NM_058187	NP_478067	P58658	CU063_HUMAN			8	1368	+			320			Extracellular (Potential).		A6ND58|Q8IXZ0	Missense_Mutation	SNP	ENST00000300255.2	37	c.958G>C	CCDS13614.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461142	0.84317	.	.	ENSG00000166979	ENST00000300255;ENST00000401402;ENST00000382699	T;T;T	0.56611	0.45;0.45;0.45	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.78679	0.4321	M	0.88105	2.93	0.53005	D	0.999967	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.82143	-0.0603	10	0.72032	D	0.01	-14.9038	19.6183	0.95645	0.0:0.0:1.0:0.0	.	317;320	A6ND58;P58658	.;CU063_HUMAN	Q	320;272;317	ENSP00000300255:E320Q;ENSP00000384594:E272Q;ENSP00000372146:E317Q	ENSP00000300255:E320Q	E	+	1	0	C21orf63	32809003	1.000000	0.71417	0.967000	0.41034	0.571000	0.35966	9.152000	0.94680	2.634000	0.89283	0.655000	0.94253	GAG		0.612	EVA1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139403.1	NM_058187		7	88	0	0	0	0.058154	0	7	88				
U2AF1	7307	broad.mit.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A	rs371769427		TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358			Mis		"""CLL, MDS"""																																		uc002zda.1		NA		Dom	yes		21	21q22.3	7307		U2 small nuclear RNA auxiliary factor 1			L					57	Substitution - Missense(57)		haematopoietic_and_lymphoid_tissue(43)|lung(12)|endometrium(2)		0						c.(100-102)TCT>TTT		U2 small nuclear RNA auxillary factor 1 isoform		G	PHE/SER,PHE/SER,	1,4405		0,1,2202	67.0	64.0	65.0		101,101,	5.5	1.0	21		65	0,8600		0,0,4300	no	missense,missense,utr-5	U2AF1	NM_001025203.1,NM_006758.2,NM_001025204.1	155,155,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,	34/241,34/241,	44524456	1,13005	2203	4300	6503	SO:0001583	missense	7307				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr21:44524456G>A	BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"""RNA binding motif (RRM) containing"""	12453	protein-coding gene	gene with protein product		191317	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein"", ""U2(RNU2) small nuclear RNA auxiliary factor 1"""	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.101C>T	21.37:g.44524456G>A	ENSP00000291552:p.Ser34Phe					U2AF1_uc002zcy.1_5'UTR|U2AF1_uc002zcz.1_5'UTR|U2AF1_uc002zdb.1_Missense_Mutation_p.S34F|U2AF1_uc010gpi.1_Missense_Mutation_p.S34F|U2AF1_uc002zdc.1_Missense_Mutation_p.S34F	p.S34F	NM_001025203	NP_001020374	Q01081	U2AF1_HUMAN			2	185	-			34			C3H1-type 1.		Q701P4|Q71RF1	Missense_Mutation	SNP	ENST00000291552.4	37	c.101C>T	CCDS13694.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025187	0.93518	2.27E-4	0.0	ENSG00000160201	ENST00000380276;ENST00000291552	T;T	0.46063	0.88;0.88	5.47	5.47	0.80525	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	H	0.96430	3.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.997	D	0.84864	0.0821	10	0.87932	D	0	-15.7954	19.3169	0.94218	0.0:0.0:1.0:0.0	.	34;34;34	Q69YM7;Q01081;Q701P4	.;U2AF1_HUMAN;.	F	34	ENSP00000369629:S34F;ENSP00000291552:S34F	ENSP00000291552:S34F	S	-	2	0	U2AF1	43397525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.864000	0.92294	2.560000	0.86352	0.563000	0.77884	TCT		0.358	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195541.1	NM_006758		7	24	0	0	0	0.047766	0	7	24				
DIP2A	23181	broad.mit.edu	37	21	47916917	47916917	+	Silent	SNP	C	C	T	rs139510335		TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr21:47916917C>T	ENST00000417564.2	+	4	321	c.300C>T	c.(298-300)gcC>gcT	p.A100A	DIP2A_ENST00000318711.7_Silent_p.A100A|DIP2A_ENST00000427143.2_Silent_p.A36A|DIP2A_ENST00000435722.3_Silent_p.A100A|DIP2A_ENST00000400274.1_Silent_p.A100A|DIP2A_ENST00000457905.3_Silent_p.A100A|DIP2A_ENST00000466639.1_Silent_p.A100A			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	100	DMAP-interaction.				multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		ACACTGAAGCCGTGCAAGCAG	0.408													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15043	0.0		0.0	False		,,,				2504	0.0						uc002zjo.2		NA																	0				ovary(2)	2						c.(298-300)GCC>GCT		disco-interacting protein 2A isoform a							102.0	94.0	97.0					21																	47916917		1943	4140	6083	SO:0001819	synonymous_variant	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47916917C>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.300C>T	21.37:g.47916917C>T						DIP2A_uc011afy.1_Silent_p.A36A|DIP2A_uc011afz.1_Silent_p.A100A|DIP2A_uc002zjl.2_Silent_p.A100A|DIP2A_uc002zjm.2_Silent_p.A100A|DIP2A_uc010gql.2_Silent_p.A100A|DIP2A_uc002zjn.2_Silent_p.A100A	p.A100A	NM_015151	NP_055966	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	4	483	+	Breast(49;0.0933)		100					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Silent	SNP	ENST00000417564.2	37	c.300C>T	CCDS46655.1																																																																																				0.408	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		5	22	0	0	0	0.217242	0	5	22				
CCDC116	164592	broad.mit.edu	37	22	21991356	21991356	+	Silent	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr22:21991356C>A	ENST00000292779.3	+	5	2000	c.1839C>A	c.(1837-1839)gtC>gtA	p.V613V		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	0										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					aggaTGGAGTCTAGAGCCTCC	0.562																																							uc002zve.2		NA																	0				ovary(1)|skin(1)	2						c.(1837-1839)GTC>GTA		coiled-coil domain containing 116							22.0	16.0	18.0					22																	21991356		2194	4292	6486	SO:0001819	synonymous_variant	164592							g.chr22:21991356C>A	BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.1839C>A	22.37:g.21991356C>A							p.V613V	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN			5	1932	+	Colorectal(54;0.105)		Error:Variant_position_missing_in_Q8IYX3_after_alignment					Q8N9Y9	Silent	SNP	ENST00000292779.3	37	c.1839C>A	CCDS13791.1																																																																																				0.562	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	NM_152612		3	7	1	0	0.004672	0.115264	0.00484233	3	7				
MN1	4330	broad.mit.edu	37	22	28193018	28193018	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr22:28193018C>A	ENST00000302326.4	-	1	4468	c.3514G>T	c.(3514-3516)Gac>Tac	p.D1172Y		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1172					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						AGAGGCTGGTCCTCGGAGATG	0.677			T	ETV6	"""AML, meningioma"""																																		uc003adj.2		NA		Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		AML|meningioma		0				central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						c.(3514-3516)GAC>TAC		meningioma  1							13.0	15.0	14.0					22																	28193018		2063	4206	6269	SO:0001583	missense	4330						binding	g.chr22:28193018C>A	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.3514G>T	22.37:g.28193018C>A	ENSP00000304956:p.Asp1172Tyr						p.D1172Y	NM_002430	NP_002421	Q10571	MN1_HUMAN			1	4469	-			1172					A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	c.3514G>T	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.064412	0.76187	.	.	ENSG00000169184	ENST00000302326	T	0.55413	0.52	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.63022	0.2476	L	0.29908	0.895	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.67488	-0.5658	10	0.87932	D	0	-31.67	17.046	0.86502	0.0:1.0:0.0:0.0	.	1172	Q10571	MN1_HUMAN	Y	1172	ENSP00000304956:D1172Y	ENSP00000304956:D1172Y	D	-	1	0	MN1	26523018	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.249000	0.78278	2.349000	0.79799	0.456000	0.33151	GAC		0.677	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		3	12	1	0	0.00909568	0.150653	0.0093301	3	12				
NCAPH2	29781	broad.mit.edu	37	22	50956689	50956689	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr22:50956689A>T	ENST00000420993.2	+	7	750	c.628A>T	c.(628-630)Atg>Ttg	p.M210L	NCAPH2_ENST00000395698.3_Missense_Mutation_p.M210L|NCAPH2_ENST00000395701.3_Missense_Mutation_p.M210L|NCAPH2_ENST00000299821.11_Missense_Mutation_p.M210L	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	210					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		CGTTTCCCCCATGCCAGGGAC	0.627																																							uc003blr.3		NA																	0				ovary(1)|skin(1)	2						c.(628-630)ATG>TTG		kleisin beta isoform 2							42.0	46.0	44.0					22																	50956689		2203	4300	6503	SO:0001583	missense	29781				chromosome condensation	chromosome|nucleus		g.chr22:50956689A>T	BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"""kleisin beta"", ""CAP-H2 subunit of the condensin II complex"""	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.628A>T	22.37:g.50956689A>T	ENSP00000410088:p.Met210Leu					NCAPH2_uc003blq.3_Missense_Mutation_p.M210L|NCAPH2_uc003blv.2_Missense_Mutation_p.M210L|NCAPH2_uc010hbb.2_Missense_Mutation_p.M61L|NCAPH2_uc003blu.3_RNA|NCAPH2_uc003bls.3_RNA|NCAPH2_uc003blt.3_RNA|NCAPH2_uc003blw.3_RNA|NCAPH2_uc003blx.3_Missense_Mutation_p.M210L|NCAPH2_uc003bly.3_RNA	p.M210L	NM_152299	NP_689512	Q6IBW4	CNDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.212)	7	750	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	210					B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Missense_Mutation	SNP	ENST00000420993.2	37	c.628A>T	CCDS14094.2	.	.	.	.	.	.	.	.	.	.	A	1.068	-0.670700	0.03403	.	.	ENSG00000025770	ENST00000420993;ENST00000395698;ENST00000395701;ENST00000523045;ENST00000299821	.	.	.	3.21	-0.387	0.12463	.	2.165000	0.01994	N	0.045754	T	0.15652	0.0377	N	0.04043	-0.29	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001	T	0.22277	-1.0221	9	0.05833	T	0.94	0.1565	5.8072	0.18446	0.4461:0.422:0.1319:0.0	.	210;210;188;210;210	G3XAG4;Q6IBW4-4;Q6IBW4-2;Q6IBW4;Q6IBW4-5	.;.;.;CNDH2_HUMAN;.	L	210;210;210;176;210	.	ENSP00000299821:M210L	M	+	1	0	NCAPH2	49303555	0.000000	0.05858	0.002000	0.10522	0.514000	0.34195	-0.113000	0.10774	-0.369000	0.08028	0.379000	0.24179	ATG		0.627	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317012.1	NM_152299		7	33	0	0	0	0.038147	0	7	33				
CISH	1154	broad.mit.edu	37	3	50645182	50645182	+	Silent	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr3:50645182C>A	ENST00000348721.3	-	3	813	c.633G>T	c.(631-633)gtG>gtT	p.V211V	CISH_ENST00000443053.2_Silent_p.V228V	NM_145071.2	NP_659508.1	Q9NSE2	CISH_HUMAN	cytokine inducible SH2-containing protein	211	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of signal transduction (GO:0009968)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CAAAGGGCTGCACCAGTTTTA	0.637																																							uc003dax.2		NA																	0					0						c.(631-633)GTG>GTT		cytokine-inducible SH2-containing protein							93.0	92.0	92.0					3																	50645182		2203	4300	6503	SO:0001819	synonymous_variant	1154				intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth	intracellular		g.chr3:50645182C>A	Z77852	CCDS2831.1, CCDS46834.1	3p21.3	2013-02-14			ENSG00000114737	ENSG00000114737		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	1984	protein-coding gene	gene with protein product		602441				9465889, 7796808	Standard	NM_013324		Approved	CIS, G18, CIS-1, SOCS	uc003dax.3	Q9NSE2	OTTHUMG00000156853	ENST00000348721.3:c.633G>T	3.37:g.50645182C>A						CISH_uc010hlq.2_Silent_p.V228V	p.V211V	NM_145071	NP_659508	Q9NSE2	CISH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	3	814	-			211			SOCS box.		B2R9N1|G5E9R1|Q9NS38|Q9Y5R1	Silent	SNP	ENST00000348721.3	37	c.633G>T	CCDS2831.1																																																																																				0.637	CISH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346245.1	NM_145071		41	95	1	0	6.87076e-12	0.139131	8.23664e-12	41	95				
GPR128	84873	broad.mit.edu	37	3	100356215	100356215	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr3:100356215G>A	ENST00000273352.3	+	6	935	c.667G>A	c.(667-669)Gct>Act	p.A223T	GPR128_ENST00000475887.1_Silent_p.L10L	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	223					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TCAAAGAGTTGCTGCTACTGC	0.393																																					Pancreas(87;185 1975 7223 18722)	Pancreas(87;185 1975 7223 18722)	uc003duc.2		NA																	0				ovary(3)|skin(1)	4						c.(667-669)GCT>ACT		G protein-coupled receptor 128 precursor							167.0	149.0	155.0					3																	100356215		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100356215G>A	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.667G>A	3.37:g.100356215G>A	ENSP00000273352:p.Ala223Thr					GPR128_uc011bhc.1_Silent_p.L6L	p.A223T	NM_032787	NP_116176	Q96K78	GP128_HUMAN			6	935	+			223			Extracellular (Potential).		Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.667G>A	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	G	9.430	1.085416	0.20390	.	.	ENSG00000144820	ENST00000273352	T	0.41065	1.01	4.61	0.775	0.18527	.	0.549142	0.17878	N	0.158942	T	0.29945	0.0749	M	0.63428	1.95	0.09310	N	1	B	0.18013	0.025	B	0.22152	0.038	T	0.37009	-0.9724	10	0.02654	T	1	.	5.0102	0.14308	0.1858:0.3339:0.4802:0.0	.	223	Q96K78	GP128_HUMAN	T	223	ENSP00000273352:A223T	ENSP00000273352:A223T	A	+	1	0	GPR128	101838905	0.858000	0.29795	0.002000	0.10522	0.003000	0.03518	1.186000	0.32078	0.122000	0.18314	0.650000	0.86243	GCT		0.393	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			35	52	0	0	0	0.09836	0	35	52				
IGSF10	285313	broad.mit.edu	37	3	151164743	151164743	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr3:151164743C>G	ENST00000282466.3	-	4	3025	c.3026G>C	c.(3025-3027)cGc>cCc	p.R1009P		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1009					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCTCCCAAAGCGTCTGAACAG	0.488																																							uc011bod.1		NA																	0				skin(7)|ovary(5)|central_nervous_system(1)	13						c.(3025-3027)CGC>CCC		immunoglobulin superfamily, member 10 precursor							75.0	76.0	76.0					3																	151164743		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151164743C>G	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.3026G>C	3.37:g.151164743C>G	ENSP00000282466:p.Arg1009Pro						p.R1009P	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	3026	-			1009					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.3026G>C	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.179031	0.38511	.	.	ENSG00000152580	ENST00000282466	T	0.69175	-0.38	5.37	0.767	0.18482	.	0.293803	0.24485	N	0.038104	T	0.47284	0.1437	L	0.29908	0.895	0.25154	N	0.990406	B	0.25521	0.128	B	0.22386	0.039	T	0.30679	-0.9970	10	0.39692	T	0.17	.	6.0627	0.19846	0.0:0.5168:0.1445:0.3387	.	1009	Q6WRI0	IGS10_HUMAN	P	1009	ENSP00000282466:R1009P	ENSP00000282466:R1009P	R	-	2	0	IGSF10	152647433	0.100000	0.21855	0.987000	0.45799	0.049000	0.14656	-0.398000	0.07259	0.218000	0.20820	0.591000	0.81541	CGC		0.488	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		31	47	0	0	0	0.183431	0	31	47				
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159606673	159606673	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr3:159606673G>A	ENST00000460298.1	+	6	1380	c.1139G>A	c.(1138-1140)aGa>aAa	p.R380K	IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.R407K|IQCJ-SCHIP1_ENST00000337808.6_Missense_Mutation_p.R420K|SCHIP1_ENST00000482804.1_Missense_Mutation_p.R193K|IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.R469K|IQCJ-SCHIP1_ENST00000485419.1_Missense_Mutation_p.R496K|IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.R188K|SCHIP1_ENST00000445224.2_Missense_Mutation_p.R177K					IQCJ-SCHIP1 readthrough											central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						ACCGACCTGAGAGACATGACT	0.388																																							uc003fcs.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1258-1260)AGA>AAA		schwannomin interacting protein 1							151.0	138.0	142.0					3																	159606673		2203	4300	6503	SO:0001583	missense	29970					cytoplasm	identical protein binding|protein binding	g.chr3:159606673G>A		CCDS56289.1, CCDS56291.1	3q25.33	2011-03-24			ENSG00000250588	ENSG00000250588			38842	other	readthrough							Standard	NM_001197113		Approved		uc003fcq.2		OTTHUMG00000162426	ENST00000460298.1:c.1139G>A	3.37:g.159606673G>A	ENSP00000417305:p.Arg380Lys					SCHIP1_uc003fcq.1_Missense_Mutation_p.R496K|SCHIP1_uc003fcr.1_Missense_Mutation_p.R409K|SCHIP1_uc003fct.1_Missense_Mutation_p.R407K|SCHIP1_uc010hvz.1_Missense_Mutation_p.R380K|SCHIP1_uc003fcu.1_Missense_Mutation_p.R177K|SCHIP1_uc003fcv.1_Missense_Mutation_p.R193K	p.R420K	NM_014575	NP_055390	Q9P0W5	SCHI1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)		6	1325	+			420						Missense_Mutation	SNP	ENST00000460298.1	37	c.1259G>A		.	.	.	.	.	.	.	.	.	.	G	17.40	3.380789	0.61845	.	.	ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000151967;ENSG00000151967	ENST00000476809;ENST00000485419;ENST00000337808;ENST00000412423;ENST00000527095;ENST00000460298;ENST00000445224;ENST00000482804	T;T;T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.63486	0.2515	L	0.36672	1.1	0.40512	D	0.980746	D;D;B;D;D;D	0.67145	0.996;0.959;0.368;0.994;0.996;0.994	D;P;B;D;D;D	0.66847	0.947;0.675;0.078;0.913;0.947;0.913	T	0.56456	-0.7976	10	0.25106	T	0.35	.	20.0018	0.97417	0.0:0.0:1.0:0.0	.	380;193;177;407;420;496	C9J366;C9JWG6;Q9P0W5-4;Q9P0W5-2;Q9P0W5;Q9P0W5-5	.;.;.;.;SCHI1_HUMAN;.	K	469;496;420;407;188;380;177;193	ENSP00000418692:R469K;ENSP00000420182:R496K;ENSP00000337239:R420K;ENSP00000400942:R407K;ENSP00000436076:R188K;ENSP00000417305:R380K;ENSP00000404860:R177K;ENSP00000419230:R193K	ENSP00000337239:R420K	R	+	2	0	SCHIP1;IQCJ-SCHIP1	161089367	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.396000	0.79891	2.793000	0.96121	0.655000	0.94253	AGA		0.388	IQCJ-SCHIP1-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000352558.2	NM_001197113		25	69	0	0	0	0.0918	0	25	69				
SLIT2	9353	broad.mit.edu	37	4	20620487	20620487	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr4:20620487G>T	ENST00000504154.1	+	37	4697	c.4445G>T	c.(4444-4446)tGc>tTc	p.C1482F	SLIT2_ENST00000273739.5_Missense_Mutation_p.C1495F|SLIT2_ENST00000503837.1_Missense_Mutation_p.C1478F|SLIT2_ENST00000503823.1_Missense_Mutation_p.C1474F	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1482	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039, ECO:0000305}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CGATTAGAGTGCAGAGGTGGG	0.527																																							uc003gpr.1		NA																	0				central_nervous_system(4)|skin(4)|ovary(3)	11						c.(4444-4446)TGC>TTC		slit homolog 2 precursor							109.0	93.0	99.0					4																	20620487		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20620487G>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.4445G>T	4.37:g.20620487G>T	ENSP00000422591:p.Cys1482Phe					SLIT2_uc003gps.1_Missense_Mutation_p.C1474F	p.C1482F	NM_004787	NP_004778	O94813	SLIT2_HUMAN			37	4649	+			1482			CTCK.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.4445G>T	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916669	0.73098	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	D;D;D;D	0.83837	-1.76;-1.77;-1.66;-1.74	6.17	6.17	0.99709	Cystine knot, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.92701	0.7680	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92479	0.5991	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1474;1482	O94813-3;O94813	.;SLIT2_HUMAN	F	1474;1482;1495;1478;1478	ENSP00000427548:C1474F;ENSP00000422591:C1482F;ENSP00000273739:C1495F;ENSP00000422261:C1478F	ENSP00000273739:C1495F	C	+	2	0	SLIT2	20229585	1.000000	0.71417	0.744000	0.31058	0.750000	0.42670	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TGC		0.527	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			19	14	1	0	8.10497e-08	0.219247	9.26948e-08	19	14				
PPARGC1A	10891	broad.mit.edu	37	4	23803877	23803877	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr4:23803877T>A	ENST00000264867.2	-	11	2230	c.2111A>T	c.(2110-2112)gAg>gTg	p.E704V	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	704	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TGTGCACTCCTCAATTTCACC	0.418																																					Esophageal Squamous(29;694 744 13796 34866 44181)	Esophageal Squamous(29;694 744 13796 34866 44181)	uc003gqs.2		NA																	0				ovary(2)|lung(2)|kidney(2)|skin(2)	8						c.(2110-2112)GAG>GTG		peroxisome proliferator-activated receptor							142.0	131.0	135.0					4																	23803877		2203	4300	6503	SO:0001583	missense	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23803877T>A	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.2111A>T	4.37:g.23803877T>A	ENSP00000264867:p.Glu704Val					PPARGC1A_uc003gqt.2_RNA	p.E704V	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN			11	2231	-		Breast(46;0.0503)	704			RRM.		B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	c.2111A>T	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	t	11.91	1.778892	0.31502	.	.	ENSG00000109819	ENST00000264867	T	0.48836	0.8	5.41	5.41	0.78517	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.094394	0.64402	D	0.000001	T	0.51295	0.1666	L	0.38733	1.17	0.80722	D	1	P	0.49783	0.928	P	0.53549	0.729	T	0.44498	-0.9324	10	0.32370	T	0.25	-9.6549	15.7244	0.77743	0.0:0.0:0.0:1.0	.	704	Q9UBK2	PRGC1_HUMAN	V	704	ENSP00000264867:E704V	ENSP00000264867:E704V	E	-	2	0	PPARGC1A	23412975	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.652000	0.83633	2.178000	0.69098	0.375000	0.23000	GAG		0.418	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		60	25	0	0	0	0.139131	0	60	25				
ANAPC4	29945	broad.mit.edu	37	4	25417102	25417102	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr4:25417102G>T	ENST00000315368.3	+	26	1983	c.1841G>T	c.(1840-1842)gGa>gTa	p.G614V	ANAPC4_ENST00000510092.1_Missense_Mutation_p.G615V	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	614					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				GTGAGTAATGGACTAATTGCT	0.353																																							uc003gro.2		NA																	0				ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5						c.(1840-1842)GGA>GTA		anaphase-promoting complex subunit 4							116.0	113.0	114.0					4																	25417102		2203	4300	6503	SO:0001583	missense	29945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr4:25417102G>T	AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"""Anaphase promoting complex subunits"""	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.1841G>T	4.37:g.25417102G>T	ENSP00000318775:p.Gly614Val					ANAPC4_uc003grp.2_Missense_Mutation_p.G500V|ANAPC4_uc003grq.2_Missense_Mutation_p.G67V	p.G614V	NM_013367	NP_037499	Q9UJX5	APC4_HUMAN			26	1970	+		Breast(46;0.0503)	614					A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Missense_Mutation	SNP	ENST00000315368.3	37	c.1841G>T	CCDS3434.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.520855	0.27211	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	T;T	0.32988	1.43;1.43	6.08	6.08	0.98989	.	0.149176	0.64402	D	0.000010	T	0.33933	0.0880	L	0.59436	1.845	0.80722	D	1	P	0.40875	0.731	B	0.36719	0.231	T	0.06679	-1.0813	10	0.45353	T	0.12	-27.2842	18.8526	0.92238	0.0:0.0:1.0:0.0	.	614	Q9UJX5	APC4_HUMAN	V	614;615	ENSP00000318775:G614V;ENSP00000426654:G615V	ENSP00000318775:G614V	G	+	2	0	ANAPC4	25026200	1.000000	0.71417	0.969000	0.41365	0.053000	0.15095	4.123000	0.57917	2.894000	0.99253	0.591000	0.81541	GGA		0.353	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367		10	8	1	0	3.07112e-06	0.080935	3.45284e-06	10	8				
AFP	174	broad.mit.edu	37	4	74306366	74306366	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr4:74306366G>T	ENST00000395792.2	+	4	418	c.318G>T	c.(316-318)gaG>gaT	p.E106D	AFP_ENST00000226359.2_Missense_Mutation_p.E106D	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	106	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAATTTTGGAGAAGTACGGAC	0.393									Alpha-Fetoprotein, Hereditary Persistence of																														uc003hgz.1		NA																	0				ovary(1)	1						c.(316-318)GAG>GAT		alpha-fetoprotein precursor							79.0	79.0	79.0					4																	74306366		2203	4300	6503	SO:0001583	missense	174	Alpha-Fetoprotein_Hereditary_Persistence_of	Familial Cancer Database	HPAFP	transport		metal ion binding	g.chr4:74306366G>T	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.318G>T	4.37:g.74306366G>T	ENSP00000379138:p.Glu106Asp					AFP_uc003hha.1_Missense_Mutation_p.E106D|AFP_uc011cbg.1_5'Flank	p.E106D	NM_001134	NP_001125	P02771	FETA_HUMAN	Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		4	365	+	Breast(15;0.00102)		106			Albumin 1.		B2RBU3	Missense_Mutation	SNP	ENST00000395792.2	37	c.318G>T	CCDS3556.1	.	.	.	.	.	.	.	.	.	.	G	3.409	-0.120630	0.06838	.	.	ENSG00000081051	ENST00000395792;ENST00000226359	T;T	0.73258	-0.73;-0.73	5.2	-5.7	0.02421	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.807770	0.11635	N	0.544420	T	0.44993	0.1320	N	0.19112	0.55	0.09310	N	1	B	0.15719	0.014	B	0.16289	0.015	T	0.30794	-0.9966	10	0.18276	T	0.48	.	6.5332	0.22338	0.2868:0.3957:0.3176:0.0	.	106	P02771	FETA_HUMAN	D	106	ENSP00000379138:E106D;ENSP00000226359:E106D	ENSP00000226359:E106D	E	+	3	2	AFP	74525230	0.204000	0.23447	0.023000	0.16930	0.401000	0.30781	-0.610000	0.05629	-0.740000	0.04803	-0.294000	0.09567	GAG		0.393	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252284.3			47	47	1	0	7.92265e-33	0.139131	1.06527e-32	47	47				
SHROOM3	57619	broad.mit.edu	37	4	77677649	77677649	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr4:77677649C>T	ENST00000296043.6	+	8	5710	c.4757C>T	c.(4756-4758)cCt>cTt	p.P1586L	RP11-359D14.2_ENST00000452412.1_RNA|RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1586					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AGGCACATGCCTGGTGCAGCC	0.453																																							uc011cbx.1		NA																	0				skin(2)|ovary(1)	3						c.(4756-4758)CCT>CTT		shroom family member 3 protein							55.0	54.0	55.0					4																	77677649		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77677649C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.4757C>T	4.37:g.77677649C>T	ENSP00000296043:p.Pro1586Leu					SHROOM3_uc003hkg.2_Missense_Mutation_p.P1364L	p.P1586L	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		8	5710	+			1586					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.4757C>T	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	C	6.560	0.471700	0.12461	.	.	ENSG00000138771	ENST00000296043;ENST00000264907	T	0.22336	1.96	4.3	3.46	0.39613	.	1.408300	0.04534	N	0.386806	T	0.24661	0.0598	L	0.56769	1.78	0.09310	N	0.999997	B	0.09022	0.002	B	0.08055	0.003	T	0.23297	-1.0192	10	0.30854	T	0.27	-4.4772	8.8818	0.35378	0.0:0.8184:0.0:0.1816	.	1586	Q8TF72	SHRM3_HUMAN	L	1586;63	ENSP00000296043:P1586L	ENSP00000264907:P63L	P	+	2	0	SHROOM3	77896673	0.000000	0.05858	0.012000	0.15200	0.059000	0.15707	0.344000	0.19962	1.405000	0.46838	0.585000	0.79938	CCT		0.453	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		8	21	0	0	0	0.047766	0	8	21				
PCDH10	57575	broad.mit.edu	37	4	134073114	134073114	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr4:134073114G>A	ENST00000264360.5	+	1	2645	c.1819G>A	c.(1819-1821)Gac>Aac	p.D607N	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	607	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D607Y(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGCCGCCGTGGACGCGGACGA	0.692																																							uc003iha.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1819-1821)GAC>AAC		protocadherin 10 isoform 1 precursor							25.0	28.0	27.0					4																	134073114		2111	4211	6322	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073114G>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1819G>A	4.37:g.134073114G>A	ENSP00000264360:p.Asp607Asn					uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.D607N	p.D607N	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2645	+			607			Cadherin 6.|Extracellular (Potential).		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1819G>A	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.991920	0.54041	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.61627	0.09	4.5	3.66	0.41972	Cadherin (4);Cadherin-like (1);	0.000000	0.47852	D	0.000204	D	0.83004	0.5160	H	0.97758	4.07	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.97110	0.998;1.0	D	0.87657	0.2532	10	0.87932	D	0	.	12.2436	0.54558	0.0831:0.0:0.9169:0.0	.	607;607	Q9P2E7;Q96SF0	PCD10_HUMAN;.	N	607	ENSP00000264360:D607N	ENSP00000264360:D607N	D	+	1	0	PCDH10	134292564	1.000000	0.71417	1.000000	0.80357	0.106000	0.19336	9.595000	0.98260	1.112000	0.41740	-0.140000	0.14226	GAC		0.692	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		14	51	0	0	0	0.105934	0	14	51				
DCHS2	54798	broad.mit.edu	37	4	155158151	155158151	+	Silent	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr4:155158151G>A	ENST00000357232.4	-	25	6287	c.6288C>T	c.(6286-6288)gtC>gtT	p.V2096V		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2096	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TATAGGATTTGACTGTGAATT	0.423																																							uc003inw.2		NA																	0				ovary(3)|pancreas(1)	4						c.(6286-6288)GTC>GTT		dachsous 2 isoform 1							150.0	148.0	149.0					4																	155158151		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155158151G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.6288C>T	4.37:g.155158151G>A							p.V2096V	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	6288	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2096			Cadherin 19.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.6288C>T	CCDS3785.1																																																																																				0.423	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		4	160	0	0	0	0.184627	0	4	160				
RAPGEF2	9693	broad.mit.edu	37	4	160268001	160268001	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr4:160268001G>T	ENST00000264431.4	+	19	3499	c.3080G>T	c.(3079-3081)aGg>aTg	p.R1027M		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1027					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GTAGCTCCAAGGGCAGGGTCA	0.498																																							uc003iqg.3		NA																	0				lung(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(3079-3081)AGG>ATG		Rap guanine nucleotide exchange factor 2							89.0	100.0	97.0					4																	160268001		1995	4195	6190	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160268001G>T	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.3080G>T	4.37:g.160268001G>T	ENSP00000264431:p.Arg1027Met						p.R1027M	NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	19	3390	+	all_hematologic(180;0.24)		1027					D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.3080G>T	CCDS43277.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	20.5|20.5|20.5	4.005826|4.005826|4.005826	0.74932|0.74932|0.74932	.|.|.	.|.|.	ENSG00000109756|ENSG00000109756|ENSG00000109756	ENST00000510253|ENST00000502485|ENST00000264431	.|.|T	.|.|0.41758	.|.|0.99	6.17|6.17|6.17	6.17|6.17|6.17	0.99709|0.99709|0.99709	.|.|Ras guanine nucleotide exchange factor, domain (1);	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.66992|0.66992|0.66992	0.2846|0.2846|0.2846	M|M|M	0.71581|0.71581|0.71581	2.175|2.175|2.175	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D	.|.|0.89917	.|.|1.0	.|.|D	.|.|0.74674	.|.|0.984	T|T|T	0.66260|0.66260|0.66260	-0.5968|-0.5968|-0.5968	5|5|10	.|.|0.87932	.|.|D	.|.|0	.|.|.	20.8794|20.8794|20.8794	0.99867|0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|1027	.|.|Q9Y4G8	.|.|RPGF2_HUMAN	W|N|M	59|132|1027	.|.|ENSP00000264431:R1027M	.|.|ENSP00000264431:R1027M	G|K|R	+|+|+	1|3|2	0|2|0	RAPGEF2|RAPGEF2|RAPGEF2	160487451|160487451|160487451	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.978000|0.978000|0.978000	0.43139|0.43139|0.43139	0.207000|0.207000|0.207000	0.24258|0.24258|0.24258	7.827000|7.827000|7.827000	0.86722|0.86722|0.86722	2.941000|2.941000|2.941000	0.99782|0.99782|0.99782	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GGG|AAG|AGG		0.498	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		31	67	1	0	3.11337e-16	0.173368	3.97155e-16	31	67				
FAM134B	54463	broad.mit.edu	37	5	16572124	16572124	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr5:16572124C>A	ENST00000306320.9	-	2	494	c.408G>T	c.(406-408)atG>atT	p.M136I		NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	136					sensory perception of pain (GO:0019233)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						TAGACAAAACCATATCCTTTA	0.363																																							uc003jfs.2		NA																	0				ovary(2)|breast(1)	3						c.(406-408)ATG>ATT		hypothetical protein LOC54463 isoform 1							92.0	85.0	88.0					5																	16572124		1839	4086	5925	SO:0001583	missense	54463				sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane		g.chr5:16572124C>A	BC053326	CCDS43304.1, CCDS43305.1	5p15.1	2014-09-17			ENSG00000154153	ENSG00000154153			25964	protein-coding gene	gene with protein product		613114				19838196, 24327336	Standard	NM_001034850		Approved	FLJ20152	uc003jfs.3	Q9H6L5	OTTHUMG00000161788	ENST00000306320.9:c.408G>T	5.37:g.16572124C>A	ENSP00000304642:p.Met136Ile						p.M136I	NM_001034850	NP_001030022	Q9H6L5	F134B_HUMAN			2	446	-			136			Helical; (Potential).		Q69YN8|Q9H6K6|Q9H764|Q9NXM8	Missense_Mutation	SNP	ENST00000306320.9	37	c.408G>T	CCDS43304.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545602	0.45280	.	.	ENSG00000154153	ENST00000306320	T	0.41400	1.0	4.93	4.93	0.64822	.	0.268792	0.35646	N	0.003073	T	0.25158	0.0611	N	0.08118	0	0.37353	D	0.910889	B	0.21688	0.059	B	0.22152	0.038	T	0.14615	-1.0466	10	0.25106	T	0.35	-12.3761	15.4405	0.75178	0.0:1.0:0.0:0.0	.	136	Q9H6L5	F134B_HUMAN	I	136	ENSP00000304642:M136I	ENSP00000304642:M136I	M	-	3	0	FAM134B	16625124	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.575000	0.60908	2.455000	0.83008	0.650000	0.86243	ATG		0.363	FAM134B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366090.1	NM_001034850		8	54	1	0	3.09899e-07	0.047766	3.50397e-07	8	54				
CDH9	1007	broad.mit.edu	37	5	26881724	26881724	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr5:26881724C>T	ENST00000231021.4	-	12	2063	c.1891G>A	c.(1891-1893)Gtg>Atg	p.V631M		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	631					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GCAAACAACACGACTAAAACT	0.388																																					Melanoma(8;187 585 15745 40864 52829)	Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1		NA																	0				ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(1891-1893)GTG>ATG		cadherin 9, type 2 preproprotein							40.0	43.0	42.0					5																	26881724		2203	4299	6502	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26881724C>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1891G>A	5.37:g.26881724C>T	ENSP00000231021:p.Val631Met					CDH9_uc011cnv.1_Missense_Mutation_p.V224M	p.V631M	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			12	2060	-			631			Helical; (Potential).		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1891G>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.519315	0.27211	.	.	ENSG00000113100	ENST00000231021	T	0.59083	0.29	4.96	4.09	0.47781	.	0.366840	0.31102	N	0.008254	T	0.64204	0.2577	M	0.91196	3.185	0.40282	D	0.978407	B;B	0.32800	0.385;0.323	B;B	0.35770	0.21;0.122	T	0.66614	-0.5879	9	.	.	.	.	8.7061	0.34356	0.0:0.8243:0.0:0.1757	.	224;631	B4DFP0;Q9ULB4	.;CADH9_HUMAN	M	631	ENSP00000231021:V631M	.	V	-	1	0	CDH9	26917481	1.000000	0.71417	0.961000	0.40146	0.487000	0.33371	3.890000	0.56220	1.209000	0.43321	0.557000	0.71058	GTG		0.388	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		5	27	0	0	0	0.184627	0	5	27				
C9	735	broad.mit.edu	37	5	39341264	39341264	+	Nonsense_Mutation	SNP	G	G	A	rs144138616		TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr5:39341264G>A	ENST00000263408.4	-	4	555	c.460C>T	c.(460-462)Cga>Tga	p.R154*	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	154	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)		p.R154*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CCTGCTGTTCGTGCCAGCTCA	0.458																																							uc003jlv.3		NA																	1	Substitution - Nonsense(1)		endometrium(1)		0	GRCh37	CM970207	C9	M	rs144138616	c.(460-462)CGA>TGA		complement component 9 precursor		G	stop/ARG	0,4406		0,0,2203	110.0	110.0	110.0		460	3.6	0.5	5	dbSNP_134	110	2,8598	2.2+/-6.3	0,2,4298	yes	stop-gained	C9	NM_001737.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		154/560	39341264	2,13004	2203	4300	6503	SO:0001587	stop_gained	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39341264G>A		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.460C>T	5.37:g.39341264G>A	ENSP00000263408:p.Arg154*						p.R154*	NM_001737	NP_001728	P02748	CO9_HUMAN	Epithelial(62;0.158)		4	549	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	154			MACPF.			Nonsense_Mutation	SNP	ENST00000263408.4	37	c.460C>T	CCDS3929.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	28.8	4.954200	0.92726	0.0	2.33E-4	ENSG00000113600	ENST00000263408	.	.	.	5.52	3.58	0.41010	.	0.119263	0.52532	D	0.000066	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.5335	11.6329	0.51187	0.0:0.0:0.4847:0.5153	.	.	.	.	X	154	.	ENSP00000263408:R154X	R	-	1	2	C9	39377021	0.978000	0.34361	0.483000	0.27378	0.987000	0.75469	2.118000	0.41949	1.285000	0.44548	0.563000	0.77884	CGA		0.458	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			41	111	0	0	0	0.139131	0	41	111				
ZNF131	7690	broad.mit.edu	37	5	43175089	43175089	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr5:43175089G>T	ENST00000399534.1	+	7	1770	c.1726G>T	c.(1726-1728)Gag>Tag	p.E576*	ZNF131_ENST00000505606.2_Nonsense_Mutation_p.E542*|ZNF131_ENST00000509634.1_Nonsense_Mutation_p.E542*|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509156.1_Nonsense_Mutation_p.E576*|ZNF131_ENST00000306938.4_Nonsense_Mutation_p.E542*			P52739	ZN131_HUMAN	zinc finger protein 131	576					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						GAACCAAGAGGAGAGAGAGTC	0.488																																							uc011cpw.1		NA																	0					0						c.(1726-1728)GAG>TAG		zinc finger protein 131							78.0	76.0	76.0					5																	43175089		1971	4160	6131	SO:0001587	stop_gained	7690					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:43175089G>T	U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"""Zinc fingers, C2H2-type"", ""-"", ""BTB/POZ domain containing"""	12915	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 35"""	604073	"""zinc finger protein 131 (clone pHZ-10)"""				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.1726G>T	5.37:g.43175089G>T	ENSP00000382450:p.Glu576*					ZNF131_uc003jnj.3_Nonsense_Mutation_p.E297*|ZNF131_uc003jnk.2_Nonsense_Mutation_p.E542*|ZNF131_uc003jnn.3_Nonsense_Mutation_p.E297*|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_Intron	p.E576*	NM_003432	NP_003423	P52739	ZN131_HUMAN			7	1762	+			576					B4DRL3|Q6PIF0	Nonsense_Mutation	SNP	ENST00000399534.1	37	c.1726G>T		.	.	.	.	.	.	.	.	.	.	G	39	7.662318	0.98419	.	.	ENSG00000172262	ENST00000509156;ENST00000306938;ENST00000399534;ENST00000505606;ENST00000509634	.	.	.	5.75	4.86	0.63082	.	0.384875	0.26522	N	0.023916	.	.	.	.	.	.	0.54753	D	0.999983	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-8.5038	15.4429	0.75200	0.0:0.2629:0.7371:0.0	.	.	.	.	X	576;542;576;542;542	.	ENSP00000305804:E542X	E	+	1	0	ZNF131	43210846	1.000000	0.71417	0.996000	0.52242	0.904000	0.53231	3.608000	0.54109	1.394000	0.46624	0.467000	0.42956	GAG		0.488	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000367982.1	NM_003432		18	44	1	0	6.94344e-10	0.175082	8.0334e-10	18	44				
HCN1	348980	broad.mit.edu	37	5	45262605	45262605	+	Silent	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr5:45262605G>A	ENST00000303230.4	-	8	2148	c.2091C>T	c.(2089-2091)tgC>tgT	p.C697C		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	697					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGGTGTAGGAGCAGGGTGACA	0.642																																							uc003jok.2		NA																	0				ovary(1)	1						c.(2089-2091)TGC>TGT		hyperpolarization activated cyclic							77.0	74.0	75.0					5																	45262605		2203	4300	6503	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262605G>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2091C>T	5.37:g.45262605G>A							p.C697C	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	2116	-			697			Cytoplasmic (Potential).			Silent	SNP	ENST00000303230.4	37	c.2091C>T	CCDS3952.1																																																																																				0.642	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		11	31	0	0	0	0.080935	0	11	31				
MCCC2	64087	broad.mit.edu	37	5	70946009	70946009	+	Splice_Site	SNP	A	A	G			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr5:70946009A>G	ENST00000340941.6	+	15	1616	c.1487A>G	c.(1486-1488)cAg>cGg	p.Q496R	MCCC2_ENST00000323375.8_Splice_Site_p.Q458R	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	496	Carboxyltransferase.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	GAAGGAAAGCAGGTCGGTGTC	0.527																																							uc003kbs.3		NA																	0				ovary(1)	1						c.(1486-1488)CAG>CGG		methylcrotonoyl-Coenzyme A carboxylase 2 (beta)	Biotin(DB00121)						99.0	96.0	97.0					5																	70946009		2203	4300	6503	SO:0001630	splice_region_variant	64087				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity	g.chr5:70946009A>G	AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"""methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"""				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.1488+1A>G	5.37:g.70946009A>G						MCCC2_uc003kbt.3_RNA	p.Q496R	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	15	1625	+		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)	496			Carboxyltransferase.		A6NIY9|Q96C27|Q9Y4L7	Missense_Mutation	SNP	ENST00000340941.6	37	c.1487A>G	CCDS34184.1	.	.	.	.	.	.	.	.	.	.	A	10.72	1.429236	0.25726	.	.	ENSG00000131844	ENST00000340941;ENST00000323375;ENST00000509539	D;D;D	0.95482	-3.16;-3.16;-3.72	5.83	4.66	0.58398	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.116869	0.64402	D	0.000018	D	0.92743	0.7693	L	0.49350	1.555	0.58432	D	0.999992	B	0.02656	0.0	B	0.04013	0.001	D	0.88678	0.3200	10	0.39692	T	0.17	-14.0673	12.3944	0.55376	0.8591:0.1409:0.0:0.0	.	496	Q9HCC0	MCCB_HUMAN	R	496;458;268	ENSP00000343657:Q496R;ENSP00000327308:Q458R;ENSP00000425474:Q268R	ENSP00000327308:Q458R	Q	+	2	0	MCCC2	70981765	1.000000	0.71417	1.000000	0.80357	0.121000	0.20230	6.237000	0.72345	1.025000	0.39708	-0.291000	0.09656	CAG		0.527	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369243.4		Missense_Mutation	16	31	0	0	0	0.160694	0	16	31				
TBCA	6902	broad.mit.edu	37	5	76987267	76987267	+	Silent	SNP	C	C	T	rs147194873		TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr5:76987267C>T	ENST00000380377.4	-	4	406	c.303G>A	c.(301-303)ctG>ctA	p.L101L	TBCA_ENST00000306388.6_3'UTR|TBCA_ENST00000522370.1_Silent_p.L77L|TBCA_ENST00000517881.1_5'UTR|TBCA_ENST00000518338.2_Silent_p.L124L|TBCA_ENST00000517679.1_Silent_p.L112L|TBCA_ENST00000520361.1_Silent_p.L72L	NM_004607.2	NP_004598.1	O75347	TBCA_HUMAN	tubulin folding cofactor A	101					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tubulin complex assembly (GO:0007021)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	chaperone binding (GO:0051087)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_lung(232;0.000511)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.02e-49)|Epithelial(54;1.05e-44)|all cancers(79;4.08e-40)		TCACTGAATCCAGTACTAAAC	0.333																																							uc003kfh.1		NA																	0				ovary(1)	1						c.(301-303)CTG>CTA		tubulin-specific chaperone a		C		1,4403	2.1+/-5.4	0,1,2201	55.0	53.0	54.0		303	4.9	1.0	5	dbSNP_134	54	0,8584		0,0,4292	no	coding-synonymous	TBCA	NM_004607.2		0,1,6493	TT,TC,CC		0.0,0.0227,0.0077		101/109	76987267	1,12987	2202	4292	6494	SO:0001819	synonymous_variant	6902				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway|tubulin complex assembly	cytoplasm|microtubule	chaperone binding|unfolded protein binding	g.chr5:76987267C>T	AF038952	CCDS4040.1, CCDS75263.1	5q14.1	2008-02-05	2006-11-21		ENSG00000171530	ENSG00000171530			11579	protein-coding gene	gene with protein product		610058	"""tubulin-specific chaperone a"""			9653160, 8706133	Standard	XM_005248586		Approved		uc003kfh.1	O75347	OTTHUMG00000102173	ENST00000380377.4:c.303G>A	5.37:g.76987267C>T						TBCA_uc003kfi.1_3'UTR	p.L101L	NM_004607	NP_004598	O75347	TBCA_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.02e-49)|Epithelial(54;1.05e-44)|all cancers(79;4.08e-40)	4	407	-		all_lung(232;0.000511)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)	101					B4DT30	Silent	SNP	ENST00000380377.4	37	c.303G>A	CCDS4040.1																																																																																				0.333	TBCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220021.3	NM_004607		3	12	0	0	0	0.184627	0	3	12				
AP3B1	8546	broad.mit.edu	37	5	77477446	77477446	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr5:77477446G>A	ENST00000255194.6	-	8	1002	c.827C>T	c.(826-828)tCt>tTt	p.S276F	AP3B1_ENST00000519295.1_Missense_Mutation_p.S227F	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	276					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		ATCATCATCAGATTCGTAGAA	0.348									Hermansky-Pudlak syndrome																														uc003kfj.2		NA																	0				central_nervous_system(1)	1						c.(826-828)TCT>TTT		adaptor-related protein complex 3, beta 1							116.0	113.0	114.0					5																	77477446		2203	4299	6502	SO:0001583	missense	8546	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77477446G>A	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.827C>T	5.37:g.77477446G>A	ENSP00000255194:p.Ser276Phe						p.S276F	NM_003664	NP_003655	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	8	952	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	276					E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	37	c.827C>T	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858626	0.91433	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	T;T	0.58940	0.3;0.31	5.93	5.93	0.95920	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78836	0.4346	M	0.80183	2.485	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.80084	-0.1530	10	0.87932	D	0	-14.6804	20.3368	0.98748	0.0:0.0:1.0:0.0	.	276	O00203	AP3B1_HUMAN	F	276;227;276;180	ENSP00000255194:S276F;ENSP00000430597:S227F	ENSP00000255194:S276F	S	-	2	0	AP3B1	77513202	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	9.444000	0.97578	2.805000	0.96524	0.655000	0.94253	TCT		0.348	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			9	15	0	0	0	0.058154	0	9	15				
ARSB	411	broad.mit.edu	37	5	78251288	78251288	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr5:78251288T>C	ENST00000264914.4	-	4	1264	c.728A>G	c.(727-729)gAg>gGg	p.E243G	ARSB_ENST00000565165.1_Missense_Mutation_p.E243G|ARSB_ENST00000396151.3_Missense_Mutation_p.E243G	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	243					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		CTGAAGGGGCTCATGCACAGA	0.428																																					Melanoma(169;563 1968 25780 26156 52266)	Melanoma(169;563 1968 25780 26156 52266)	uc003kfq.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(727-729)GAG>GGG		arylsulfatase B isoform 1 precursor							106.0	103.0	104.0					5																	78251288		2203	4300	6503	SO:0001583	missense	411				lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity	g.chr5:78251288T>C	M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"""Arylsulfatase family"""	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.728A>G	5.37:g.78251288T>C	ENSP00000264914:p.Glu243Gly					ARSB_uc003kfr.3_Missense_Mutation_p.E243G	p.E243G	NM_000046	NP_000037	P15848	ARSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)	4	2014	-		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)	243					B2RC20|Q8N322|Q9UDI9	Missense_Mutation	SNP	ENST00000264914.4	37	c.728A>G	CCDS4043.1	.	.	.	.	.	.	.	.	.	.	T	11.01	1.511770	0.27036	.	.	ENSG00000113273	ENST00000264914;ENST00000396151	D;D	0.96300	-3.97;-3.97	5.55	5.55	0.83447	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.420286	0.27705	N	0.018184	D	0.90154	0.6923	N	0.13299	0.325	0.33074	D	0.535785	B;B	0.10296	0.003;0.0	B;B	0.04013	0.001;0.001	D	0.87147	0.2206	10	0.12766	T	0.61	.	11.6564	0.51320	0.0:0.0:0.1481:0.8518	.	243;243	Q8N322;P15848	.;ARSB_HUMAN	G	243	ENSP00000264914:E243G;ENSP00000379455:E243G	ENSP00000264914:E243G	E	-	2	0	ARSB	78287044	0.317000	0.24589	1.000000	0.80357	0.994000	0.84299	2.056000	0.41355	2.111000	0.64477	0.482000	0.46254	GAG		0.428	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2	NM_000046		9	46	0	0	0	0.069234	0	9	46				
SLCO6A1	133482	broad.mit.edu	37	5	101813454	101813454	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr5:101813454C>G	ENST00000506729.1	-	3	899	c.728G>C	c.(727-729)gGa>gCa	p.G243A	SLCO6A1_ENST00000514551.1_Intron|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000389019.3_Intron|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.G243A|SLCO6A1_ENST00000513675.1_Intron			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AAGAGGCATTCCTGCTATTCC	0.408																																							uc003knn.2		NA																	0				ovary(3)|skin(3)|central_nervous_system(1)	7						c.(727-729)GGA>GCA		solute carrier organic anion transporter family,							166.0	157.0	160.0					5																	101813454		2203	4300	6503	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101813454C>G	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.728G>C	5.37:g.101813454C>G	ENSP00000421339:p.Gly243Ala					SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_Missense_Mutation_p.G243A|SLCO6A1_uc003knq.2_Intron	p.G243A	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	3	900	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	243			Helical; Name=4; (Potential).		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.728G>C	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	C	6.596	0.478296	0.12521	.	.	ENSG00000205359	ENST00000506729;ENST00000379807	T;T	0.35973	1.28;1.28	5.11	-4.19	0.03835	Major facilitator superfamily domain, general substrate transporter (1);	1.010930	0.07935	N	0.978252	T	0.25494	0.0620	N	0.13043	0.29	0.09310	N	0.999999	B	0.25048	0.117	B	0.25884	0.064	T	0.22591	-1.0212	10	0.15066	T	0.55	.	23.3272	0.99982	0.0:0.1662:0.8338:0.0	.	243	Q86UG4	SO6A1_HUMAN	A	243	ENSP00000421339:G243A;ENSP00000369135:G243A	ENSP00000369135:G243A	G	-	2	0	SLCO6A1	101841353	0.000000	0.05858	0.002000	0.10522	0.446000	0.32137	-0.735000	0.04888	-1.197000	0.02673	-1.211000	0.01629	GGA		0.408	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		53	97	0	0	0	0.139131	0	53	97				
MEGF10	84466	broad.mit.edu	37	5	126755842	126755842	+	Silent	SNP	C	C	T	rs151266058	byFrequency	TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr5:126755842C>T	ENST00000274473.6	+	13	1800	c.1533C>T	c.(1531-1533)gaC>gaT	p.D511D	MEGF10_ENST00000503335.2_Silent_p.D511D|MEGF10_ENST00000508365.1_Silent_p.D511D|MEGF10_ENST00000418761.2_Silent_p.D511D	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	511	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.D511D(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ACACCCTGGACGGGACCTGCA	0.592													C|||	4	0.000798722	0.003	0.0	5008	,	,		19835	0.0		0.0	False		,,,				2504	0.0						uc003kuh.3		NA																	1	Substitution - coding silent(1)	p.D511D(1)	ovary(1)	ovary(4)	4						c.(1531-1533)GAC>GAT		multiple EGF-like-domains 10 precursor		C		8,4398	12.9+/-30.5	0,8,2195	91.0	76.0	81.0		1533	-11.5	0.2	5	dbSNP_134	81	0,8600		0,0,4300	no	coding-synonymous	MEGF10	NM_032446.2		0,8,6495	TT,TC,CC		0.0,0.1816,0.0615		511/1141	126755842	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126755842C>T	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1533C>T	5.37:g.126755842C>T						MEGF10_uc010jdc.1_Silent_p.D511D|MEGF10_uc010jdd.1_Silent_p.D511D|MEGF10_uc003kui.3_Silent_p.D511D	p.D511D	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	13	1895	+		Prostate(80;0.165)	511			Extracellular (Potential).|EGF-like 9.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.		Q68DE5|Q8WUL3	Silent	SNP	ENST00000274473.6	37	c.1533C>T	CCDS4142.1																																																																																				0.592	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		30	61	0	0	0	0.225048	0	30	61				
GFRA3	2676	broad.mit.edu	37	5	137600050	137600050	+	Silent	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr5:137600050G>A	ENST00000274721.3	-	2	525	c.279C>T	c.(277-279)ctC>ctT	p.L93L	GFRA3_ENST00000378362.3_Silent_p.L93L	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	93					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AGCTGTTCCTGAGTTGCTGTG	0.597																																							uc003lcn.2		NA																	0				ovary(1)	1						c.(277-279)CTC>CTT		GDNF family receptor alpha 3 preproprotein							103.0	87.0	93.0					5																	137600050		2203	4300	6503	SO:0001819	synonymous_variant	2676				peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding	g.chr5:137600050G>A	AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.279C>T	5.37:g.137600050G>A						GFRA3_uc003lco.2_Silent_p.L93L	p.L93L	NM_001496	NP_001487	O60609	GFRA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	419	-			93					B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Silent	SNP	ENST00000274721.3	37	c.279C>T	CCDS4201.1																																																																																				0.597	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251277.1	NM_001496		8	31	0	0	0	0.038147	0	8	31				
PCDHA4	56144	broad.mit.edu	37	5	140188828	140188828	+	Missense_Mutation	SNP	G	G	C	rs553716577		TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr5:140188828G>C	ENST00000530339.1	+	1	2056	c.2056G>C	c.(2056-2058)Gct>Cct	p.A686P	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A686P|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A686P	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	686					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A686T(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTGGTGGGCGCTGTGGGTCC	0.642																																							uc003lhi.2		NA																	2	Substitution - Missense(2)		large_intestine(2)	ovary(4)|skin(2)	6						c.(2056-2058)GCT>CCT		protocadherin alpha 4 isoform 1 precursor							60.0	57.0	58.0					5																	140188828		2203	4300	6503	SO:0001583	missense	56144				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140188828G>C	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.2056G>C	5.37:g.140188828G>C	ENSP00000435300:p.Ala686Pro					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.A686P|PCDHA4_uc011daa.1_Missense_Mutation_p.A686P	p.A686P	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2157	+			686			Extracellular (Potential).		O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.2056G>C	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	g	10.60	1.395550	0.25205	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.53857	0.68;0.6;0.65	3.93	-0.376	0.12505	.	0.988162	0.08196	U	0.983025	T	0.51058	0.1652	M	0.88241	2.94	0.09310	N	1	B;B;B	0.16166	0.014;0.016;0.013	B;B;B	0.24394	0.053;0.024;0.016	T	0.48246	-0.9052	10	0.07644	T	0.81	.	3.8281	0.08863	0.0769:0.2583:0.3996:0.2652	.	686;686;686	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	P	686	ENSP00000423470:A686P;ENSP00000349344:A686P;ENSP00000435300:A686P	ENSP00000349344:A686P	A	+	1	0	PCDHA4	140169012	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.502000	0.06390	-0.359000	0.08150	0.484000	0.47621	GCT		0.642	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		15	32	0	0	0	0.160694	0	15	32				
PCDHB5	26167	broad.mit.edu	37	5	140516913	140516913	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr5:140516913G>A	ENST00000231134.5	+	1	2114	c.1897G>A	c.(1897-1899)Gac>Aac	p.D633N		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	633	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCGAGCGCGACGCGGCCAA	0.692																																							uc003liq.2		NA																	0				skin(3)|ovary(2)	5						c.(1897-1899)GAC>AAC		protocadherin beta 5 precursor							30.0	33.0	32.0					5																	140516913		1997	3957	5954	SO:0001583	missense	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516913G>A	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1897G>A	5.37:g.140516913G>A	ENSP00000231134:p.Asp633Asn						p.D633N	NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2114	+			633			Cadherin 6.|Extracellular (Potential).		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.1897G>A	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208302	0.79240	.	.	ENSG00000113209	ENST00000231134	T	0.51071	0.72	4.71	4.71	0.59529	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.69771	0.3148	M	0.75264	2.295	0.39113	D	0.961515	D	0.89917	1.0	D	0.85130	0.997	T	0.76250	-0.3028	9	0.87932	D	0	.	18.069	0.89399	0.0:0.0:1.0:0.0	.	633	Q9Y5E4	PCDB5_HUMAN	N	633	ENSP00000231134:D633N	ENSP00000231134:D633N	D	+	1	0	PCDHB5	140497097	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	7.130000	0.77235	2.337000	0.79520	0.430000	0.28490	GAC		0.692	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		23	50	0	0	0	0.108266	0	23	50				
PCDHB15	56121	broad.mit.edu	37	5	140626348	140626348	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr5:140626348A>G	ENST00000231173.3	+	1	1202	c.1202A>G	c.(1201-1203)tAc>tGc	p.Y401C		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	401	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGAATTTCTACAGGCTGGTA	0.458																																							uc003lje.2		NA																	0				ovary(2)|breast(2)|skin(1)	5						c.(1201-1203)TAC>TGC		protocadherin beta 15 precursor							64.0	65.0	65.0					5																	140626348		2203	4300	6503	SO:0001583	missense	56121				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140626348A>G	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1202A>G	5.37:g.140626348A>G	ENSP00000231173:p.Tyr401Cys						p.Y401C	NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1202	+			401			Extracellular (Potential).|Cadherin 4.		Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.1202A>G	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	a	13.57	2.277504	0.40294	.	.	ENSG00000113248	ENST00000231173	T	0.38560	1.13	4.56	0.115	0.14643	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.75925	0.3916	H	0.99273	4.495	0.27188	N	0.960494	D	0.89917	1.0	D	0.91635	0.999	T	0.65800	-0.6080	9	0.87932	D	0	.	9.4363	0.38641	0.5947:0.0:0.0:0.4053	.	401	Q9Y5E8	PCDBF_HUMAN	C	401	ENSP00000231173:Y401C	ENSP00000231173:Y401C	Y	+	2	0	PCDHB15	140606532	0.994000	0.37717	0.136000	0.22124	0.872000	0.50106	3.340000	0.52143	0.169000	0.19679	0.402000	0.26972	TAC		0.458	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		15	27	0	0	0	0.132662	0	15	27				
PANK3	79646	broad.mit.edu	37	5	167988438	167988438	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr5:167988438T>C	ENST00000239231.6	-	5	1212	c.896A>G	c.(895-897)aAt>aGt	p.N299S	MIR103A1_ENST00000362165.1_RNA|PANK3_ENST00000520504.1_5'UTR	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	299					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		ACCAATGTTATTGGTGATAGT	0.323																																							uc003lzz.1		NA																	0				ovary(1)	1						c.(895-897)AAT>AGT		pantothenate kinase 3							63.0	64.0	64.0					5																	167988438		2203	4300	6503	SO:0001583	missense	79646				coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity	g.chr5:167988438T>C	AK022961	CCDS4368.1	5q35.1	2008-02-05			ENSG00000120137	ENSG00000120137			19365	protein-coding gene	gene with protein product		606161				11479594	Standard	NM_024594		Approved	FLJ12899	uc003lzz.2	Q9H999	OTTHUMG00000130410	ENST00000239231.6:c.896A>G	5.37:g.167988438T>C	ENSP00000239231:p.Asn299Ser					uc003maa.1_5'Flank|MIR103-1_hsa-mir-103-1|MI0000109_5'Flank	p.N299S	NM_024594	NP_078870	Q9H999	PANK3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)	5	1196	-	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	299					D3DQL1|Q53FJ9|Q7RTX4	Missense_Mutation	SNP	ENST00000239231.6	37	c.896A>G	CCDS4368.1	.	.	.	.	.	.	.	.	.	.	T	17.70	3.454009	0.63290	.	.	ENSG00000120137	ENST00000239231	D	0.99594	-6.25	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.98729	0.9573	M	0.69185	2.1	0.80722	D	1	B	0.33044	0.395	B	0.32762	0.152	D	0.99938	1.1384	10	0.44086	T	0.13	-18.1515	13.8724	0.63626	0.0:0.0:0.0:1.0	.	299	Q9H999	PANK3_HUMAN	S	299	ENSP00000239231:N299S	ENSP00000239231:N299S	N	-	2	0	PANK3	167921016	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	1.870000	0.54199	0.454000	0.30748	AAT		0.323	PANK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252793.2	NM_024594		12	20	0	0	0	0.09319	0	12	20				
FOXI1	2299	broad.mit.edu	37	5	169535488	169535488	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr5:169535488G>T	ENST00000306268.6	+	2	1071	c.1010G>T	c.(1009-1011)tGg>tTg	p.W337L	FOXI1_ENST00000449804.2_Missense_Mutation_p.W242L			Q12951	FOXI1_HUMAN	forkhead box I1	337					embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGGGTGACTGGGCGAACCCC	0.582									Pendred syndrome																														uc003mai.3		NA																	0				breast(3)|central_nervous_system(1)	4						c.(1009-1011)TGG>TTG		forkhead box I1 isoform a							118.0	89.0	99.0					5																	169535488		2203	4300	6503	SO:0001583	missense	2299	Pendred_syndrome	Familial Cancer Database	Goiter-Deafness syndrome	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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|transcription regulatory region DNA binding	g.chr5:169535488G>T	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"""Forkhead boxes"""	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.1010G>T	5.37:g.169535488G>T	ENSP00000304286:p.Trp337Leu					FOXI1_uc003maj.3_Missense_Mutation_p.W242L	p.W337L	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	1055	+	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	337					Q14518|Q66SR7|Q8N6L8	Missense_Mutation	SNP	ENST00000306268.6	37	c.1010G>T	CCDS4372.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774928	0.49786	.	.	ENSG00000168269	ENST00000306268;ENST00000449804	D;D	0.94330	-3.16;-3.4	5.28	5.28	0.74379	.	0.368522	0.28809	N	0.014065	D	0.96250	0.8777	M	0.81682	2.555	0.30015	N	0.814882	D;D	0.71674	0.998;0.97	D;P	0.80764	0.994;0.749	D	0.92262	0.5818	10	0.09338	T	0.73	.	18.9162	0.92507	0.0:0.0:1.0:0.0	.	242;337	Q12951-2;Q12951	.;FOXI1_HUMAN	L	337;242	ENSP00000304286:W337L;ENSP00000415483:W242L	ENSP00000304286:W337L	W	+	2	0	FOXI1	169468066	1.000000	0.71417	0.975000	0.42487	0.003000	0.03518	7.235000	0.78143	2.482000	0.83794	0.655000	0.94253	TGG		0.582	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188		34	80	1	0	2.19358e-23	0.225048	2.87186e-23	34	80				
HRH2	3274	broad.mit.edu	37	5	175110362	175110362	+	Silent	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr5:175110362C>A	ENST00000231683.2	+	1	1899	c.126C>A	c.(124-126)gcC>gcA	p.A42A	HRH2_ENST00000377291.2_Silent_p.A42A	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	42					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	TCTGTCTGGCCGTGGGCTTGA	0.587																																							uc003mdd.2		NA																	0				ovary(1)	1						c.(124-126)GCC>GCA		histamine receptor H2 isoform 2	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)						204.0	177.0	186.0					5																	175110362		2203	4300	6503	SO:0001819	synonymous_variant	3274				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	g.chr5:175110362C>A		CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"""GPCR / Class A : Histamine receptors"""	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.126C>A	5.37:g.175110362C>A						HRH2_uc003mdc.3_Silent_p.A42A	p.A42A	NM_022304	NP_071640	P25021	HRH2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	1	1899	+	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	42			Helical; Name=1; (Potential).		B5BUP7|Q14464|Q7Z5R9	Silent	SNP	ENST00000231683.2	37	c.126C>A	CCDS4395.1																																																																																				0.587	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1			60	148	1	0	1.02487e-32	0.139131	1.36879e-32	60	148				
NSD1	64324	broad.mit.edu	37	5	176637018	176637018	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr5:176637018G>T	ENST00000439151.2	+	5	1663	c.1618G>T	c.(1618-1620)Ggg>Tgg	p.G540W	NSD1_ENST00000354179.4_Missense_Mutation_p.G271W|NSD1_ENST00000361032.4_Missense_Mutation_p.G437W|NSD1_ENST00000347982.4_Missense_Mutation_p.G271W	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	540					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CTTTATCTCTGGGGATATATC	0.438			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																													uc003mfr.3		NA		Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				ovary(2)|kidney(1)	3						c.(1618-1620)GGG>TGG		nuclear receptor binding SET domain protein 1							61.0	71.0	67.0					5																	176637018		2201	4299	6500	SO:0001583	missense	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176637018G>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.1618G>T	5.37:g.176637018G>T	ENSP00000395929:p.Gly540Trp	HNSCC(47;0.14)				NSD1_uc003mft.3_Missense_Mutation_p.G271W|NSD1_uc003mfs.1_Missense_Mutation_p.G437W|NSD1_uc011dfx.1_Missense_Mutation_p.G188W	p.G540W	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	1756	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	540					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.1618G>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.650149	0.47362	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.95482	-3.58;-3.61;-3.58;-3.72	5.63	4.57	0.56435	.	0.094859	0.46442	D	0.000293	D	0.94788	0.8317	L	0.27053	0.805	0.30224	N	0.796538	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.74348	0.971;0.983;0.936	D	0.90591	0.4537	9	.	.	.	.	10.9216	0.47167	0.1471:0.0:0.8529:0.0	.	271;437;540	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	W	271;271;540;271;437	ENSP00000346111:G271W;ENSP00000395929:G540W;ENSP00000343209:G271W;ENSP00000354310:G437W	.	G	+	1	0	NSD1	176569624	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.302000	0.43637	2.648000	0.89879	0.591000	0.81541	GGG		0.438	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		30	53	1	0	3.11337e-16	0.173368	3.97155e-16	30	53				
EXOC2	55770	broad.mit.edu	37	6	549247	549247	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr6:549247T>A	ENST00000230449.4	-	22	2301	c.2166A>T	c.(2164-2166)gaA>gaT	p.E722D	EXOC2_ENST00000448181.3_Missense_Mutation_p.E317D	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	722					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		AGGTGTGACGTTCTAGATAGC	0.383																																							uc003mtd.2		NA																	0				breast(4)|ovary(2)|pancreas(1)	7						c.(2164-2166)GAA>GAT		Sec5 protein							181.0	172.0	175.0					6																	549247		2203	4300	6503	SO:0001583	missense	55770				exocytosis|protein transport			g.chr6:549247T>A	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.2166A>T	6.37:g.549247T>A	ENSP00000230449:p.Glu722Asp					EXOC2_uc003mte.2_Missense_Mutation_p.E722D|EXOC2_uc011dho.1_Missense_Mutation_p.E317D	p.E722D	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	22	2300	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	722					B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	ENST00000230449.4	37	c.2166A>T	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	T	16.33	3.093292	0.56075	.	.	ENSG00000112685	ENST00000230449;ENST00000448181	T	0.43688	0.94	5.41	3.01	0.34805	.	0.000000	0.85682	D	0.000000	T	0.22975	0.0555	M	0.63428	1.95	0.51012	D	0.999907	P	0.44478	0.836	B	0.43508	0.422	T	0.05767	-1.0865	10	0.18276	T	0.48	.	9.3759	0.38283	0.0:0.2107:0.0:0.7893	.	722	Q96KP1	EXOC2_HUMAN	D	722;317	ENSP00000230449:E722D	ENSP00000230449:E722D	E	-	3	2	EXOC2	494247	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.191000	0.32138	0.355000	0.24131	0.533000	0.62120	GAA		0.383	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		42	80	0	0	0	0.09836	0	42	80				
ATXN1	6310	broad.mit.edu	37	6	16306818	16306818	+	Silent	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr6:16306818G>A	ENST00000244769.4	-	9	3126	c.2190C>T	c.(2188-2190)atC>atT	p.I730I	ATXN1_ENST00000436367.1_Silent_p.I730I	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	730	Interaction with USP7.|RNA-binding.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TCCCCTGGTTGATTCCGTTTT	0.587																																							uc003nbt.2		NA																	0				skin(3)|central_nervous_system(1)	4						c.(2188-2190)ATC>ATT		ataxin 1							86.0	83.0	84.0					6																	16306818		2203	4300	6503	SO:0001819	synonymous_variant	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16306818G>A	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.2190C>T	6.37:g.16306818G>A						ATXN1_uc010jpi.2_Silent_p.I730I|ATXN1_uc010jpj.1_RNA	p.I730I	NM_000332	NP_000323	P54253	ATX1_HUMAN			9	3161	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	730			Interaction with USP7.|RNA-binding.		Q17S02|Q9UJG2|Q9Y4J1	Silent	SNP	ENST00000244769.4	37	c.2190C>T	CCDS34342.1																																																																																				0.587	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		5	95	0	0	0	0.184627	0	5	95				
HLA-G	3135	broad.mit.edu	37	6	29797446	29797446	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr6:29797446C>T	ENST00000360323.6	+	4	895	c.871C>T	c.(871-873)Ccg>Tcg	p.P291S	HLA-G_ENST00000376818.3_Missense_Mutation_p.P199S|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000428701.1_Missense_Mutation_p.P291S|HLA-G_ENST00000376828.2_Missense_Mutation_p.P296S			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	291	Alpha-3.|Ig-like C1-type.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TGAGGGGCTGCCGGAGCCCCT	0.582																																							uc003nnw.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(871-873)CCG>TCG		major histocompatibility complex, class I, G							53.0	57.0	55.0					6																	29797446		2203	4300	6503	SO:0001583	missense	3135				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29797446C>T		CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4964	protein-coding gene	gene with protein product	"""b2 microglobulin"""	142871	"""HLA-G histocompatibility antigen, class I, G"""				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.871C>T	6.37:g.29797446C>T	ENSP00000353472:p.Pro291Ser					HLA-G_uc011dmb.1_Missense_Mutation_p.P263S|HLA-G_uc003raj.3_Missense_Mutation_p.P296S|HLA-G_uc003nnz.3_Missense_Mutation_p.P199S|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_RNA|HLA-G_uc003ran.1_5'Flank	p.P291S	NM_002127	NP_002118	P17693	HLAG_HUMAN			5	1049	+			291			Extracellular (Potential).|Ig-like C1-type.|Alpha-3.			Missense_Mutation	SNP	ENST00000360323.6	37	c.871C>T	CCDS4668.1	.	.	.	.	.	.	.	.	.	.	.	7.625	0.677740	0.14841	.	.	ENSG00000204632	ENST00000376828;ENST00000428701;ENST00000360323;ENST00000376818	T;T;T;T	0.02709	4.19;4.19;4.19;4.19	1.7	-0.998	0.10212	Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.012530	0.07964	N	0.982826	T	0.02193	0.0068	L	0.35487	1.065	0.09310	N	1	P;B;P	0.52170	0.823;0.146;0.951	P;B;P	0.57101	0.697;0.011;0.813	T	0.48127	-0.9062	10	0.87932	D	0	.	8.5213	0.33277	0.0:0.3278:0.6722:0.0	.	296;199;291	Q5RJ85;Q31611;P17693	.;.;HLAG_HUMAN	S	296;291;291;199	ENSP00000366024:P296S;ENSP00000412927:P291S;ENSP00000353472:P291S;ENSP00000366014:P199S	ENSP00000353472:P291S	P	+	1	0	HLA-G	29905425	0.000000	0.05858	0.026000	0.17262	0.006000	0.05464	-1.063000	0.03465	0.041000	0.15688	0.291000	0.19559	CCG		0.582	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127		7	24	0	0	0	0.038147	0	7	24				
HLA-A	3105	broad.mit.edu	37	6	29910587	29910587	+	Nonsense_Mutation	SNP	G	G	T	rs41549014	byFrequency	TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr6:29910587G>T	ENST00000396634.1	+	4	468	c.127G>T	c.(127-129)Gag>Tag	p.E43*	HLA-A_ENST00000376806.5_Nonsense_Mutation_p.E43*|HLA-A_ENST00000376802.2_Nonsense_Mutation_p.E43*|HLA-A_ENST00000376809.5_Nonsense_Mutation_p.E43*			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	43	Alpha-1.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.E43*(1)|p.R41fs*31(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CGGCCGCGGGGAGCCCCGCTT	0.706									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																													uc003nol.2		NA																	2	Substitution - Nonsense(1)|Deletion - Frameshift(1)		cervix(1)|ovary(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(127-129)GAG>TAG		major histocompatibility complex, class I, A							23.0	22.0	22.0					6																	29910587		2198	4294	6492	SO:0001587	stop_gained	3105	Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910587G>T	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.127G>T	6.37:g.29910587G>T	ENSP00000379873:p.Glu43*	Multiple Myeloma(9;0.094)				HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Nonsense_Mutation_p.E43*|HLA-A_uc003noo.2_Nonsense_Mutation_p.E43*|HLA-A_uc010jrr.2_Nonsense_Mutation_p.E43*|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Nonsense_Mutation_p.E15*|HLA-A_uc011dmc.1_5'UTR|HLA-A_uc011dmd.1_5'Flank	p.E43*	NM_002116	NP_002107	P30443	1A01_HUMAN			2	127	+			43			Extracellular (Potential).|Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Nonsense_Mutation	SNP	ENST00000396634.1	37	c.127G>T	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	38	6.774052	0.97829	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	.	.	.	3.57	0.575	0.17374	.	2.237780	0.03383	U	0.200671	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	3.3062	0.07001	0.2361:0.0:0.5616:0.2024	.	.	.	.	X	43	.	ENSP00000348012:E43X	E	+	1	0	HLA-A	30018566	0.008000	0.16893	0.000000	0.03702	0.452000	0.32318	0.240000	0.18042	0.004000	0.14682	0.478000	0.44815	GAG		0.706	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		3	13	1	0	1.23904e-05	0.184627	1.36983e-05	3	13				
LY6G6F	259215	broad.mit.edu	37	6	31675858	31675858	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr6:31675858G>T	ENST00000375832.4	+	3	615	c.593G>T	c.(592-594)aGa>aTa	p.R198I	MEGT1_ENST00000503322.1_Missense_Mutation_p.R198I|XXbac-BPG32J3.20_ENST00000461287.1_Intron|LY6G6F_ENST00000556581.1_Missense_Mutation_p.R198I	NM_001003693.1	NP_001003693.1	Q5SQ64	LY66F_HUMAN	lymphocyte antigen 6 complex, locus G6F	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						CGAAGACCAAGAATCATCCGC	0.577																																							uc003nwa.1		NA																	0				breast(1)|central_nervous_system(1)	2						c.(592-594)AGA>ATA		G6f protein precursor							126.0	141.0	135.0					6																	31675858		1509	2708	4217	SO:0001583	missense	259215					integral to membrane|plasma membrane		g.chr6:31675858G>T		CCDS34403.1	6p21	2013-01-11	2008-05-21	2008-05-21		ENSG00000204424		"""Immunoglobulin superfamily / V-set domain containing"""	13933	protein-coding gene	gene with protein product		611404	"""chromosome 6 open reading frame 21"""	LY6G6D, C6orf21		12852788	Standard	NM_001003693		Approved	G6f, NG32	uc003nwa.1	Q5SQ64	OTTHUMG00000031252	ENST00000375832.4:c.593G>T	6.37:g.31675858G>T	ENSP00000364992:p.Arg198Ile					BAT5_uc011dnz.1_Intron|LY6G6F_uc003nwb.1_Missense_Mutation_p.R198I	p.R198I	NM_001003693	NP_001003693	Q5SQ64	LY66F_HUMAN			3	593	+			198			Extracellular (Potential).		B0UXB7|O95869|Q7Z5H2|Q96QC7|Q9NZJ1	Missense_Mutation	SNP	ENST00000375832.4	37	c.593G>T	CCDS34403.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753838	0.49362	.	.	ENSG00000204424;ENSG00000204424;ENSG00000250641	ENST00000556581;ENST00000375832;ENST00000503322	T;T;T	0.31769	1.79;1.48;1.79	5.15	5.15	0.70609	.	0.090649	0.47852	D	0.000206	T	0.37237	0.0996	M	0.61703	1.905	0.22500	N	0.999045	D;D	0.64830	0.994;0.994	P;P	0.60789	0.879;0.75	T	0.17806	-1.0357	10	0.72032	D	0.01	-3.4647	14.1027	0.65068	0.0:0.0:1.0:0.0	.	198;198	Q9NZJ1;Q5SQ64	.;LY66F_HUMAN	I	198	ENSP00000452432:R198I;ENSP00000364992:R198I;ENSP00000421232:R198I	ENSP00000364992:R198I	R	+	2	0	XXbac-BPG32J3.19;LY6G6F	31783837	0.960000	0.32886	0.496000	0.27539	0.765000	0.43378	4.259000	0.58828	2.408000	0.81797	0.591000	0.81541	AGA		0.577	LY6G6F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076532.2	NM_001003693		6	139	1	0	3.09899e-07	0.047766	3.50397e-07	6	139				
SYNGAP1	8831	broad.mit.edu	37	6	33405994	33405994	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr6:33405994G>A	ENST00000418600.2	+	8	1413	c.1312G>A	c.(1312-1314)Gcc>Acc	p.A438T	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.A379T|MIR5004_ENST00000579078.1_RNA|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.A438T	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	438					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CTTGGAGCCCGCCCTGAATGT	0.512																																							uc011dri.1		NA																	0				ovary(4)	4						c.(1312-1314)GCC>ACC		synaptic Ras GTPase activating protein 1							160.0	155.0	157.0					6																	33405994		2203	4300	6503	SO:0001583	missense	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33405994G>A	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.1312G>A	6.37:g.33405994G>A	ENSP00000403636:p.Ala438Thr					SYNGAP1_uc003oeo.1_Missense_Mutation_p.A423T|SYNGAP1_uc010juy.2_Missense_Mutation_p.A423T|SYNGAP1_uc010juz.2_Missense_Mutation_p.A150T	p.A438T	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN			8	1507	+			438					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.1312G>A	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	G	14.39	2.522340	0.44866	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.16457	2.34;2.43;2.43	4.86	3.99	0.46301	Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.246616	0.33712	N	0.004627	T	0.03095	0.0091	N	0.14661	0.345	0.31709	N	0.639723	B;P;P;B	0.36660	0.428;0.564;0.564;0.026	B;B;B;B	0.19666	0.011;0.026;0.026;0.003	T	0.27502	-1.0072	10	0.72032	D	0.01	.	11.1118	0.48237	0.0904:0.0:0.9096:0.0	.	438;438;438;438	Q96PV0;Q96PV0-2;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.;.	T	438;438;438;379	ENSP00000293748:A438T;ENSP00000403636:A438T;ENSP00000412475:A379T	ENSP00000293748:A438T	A	+	1	0	SYNGAP1	33513972	0.968000	0.33430	0.858000	0.33744	0.950000	0.60333	1.961000	0.40432	1.255000	0.44051	0.650000	0.86243	GCC		0.512	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		94	169	0	0	0	0.139131	0	94	169				
GPR126	57211	broad.mit.edu	37	6	142691435	142691435	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr6:142691435G>A	ENST00000230173.6	+	4	1050	c.574G>A	c.(574-576)Gtt>Att	p.V192I	GPR126_ENST00000296932.8_Missense_Mutation_p.V192I|GPR126_ENST00000545477.1_Intron|GPR126_ENST00000367608.2_Missense_Mutation_p.V192I|GPR126_ENST00000367609.3_Missense_Mutation_p.V192I	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	192	Pentaxin.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		AGCAACCAAAGTTGGCCATGA	0.438																																							uc010khc.2		NA																	0				ovary(1)	1						c.(574-576)GTT>ATT		G protein-coupled receptor 126 alpha 1							75.0	68.0	70.0					6																	142691435		1917	4149	6066	SO:0001583	missense	57211				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142691435G>A	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.574G>A	6.37:g.142691435G>A	ENSP00000230173:p.Val192Ile					GPR126_uc010khd.2_Missense_Mutation_p.V192I|GPR126_uc010khe.2_Missense_Mutation_p.V192I|GPR126_uc010khf.2_Missense_Mutation_p.V192I|GPR126_uc003qix.2_Missense_Mutation_p.V192I	p.V192I	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	4	985	+	Breast(32;0.176)		192			Pentaxin.|Extracellular (Potential).		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	c.574G>A	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	G	0.338	-0.952393	0.02285	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609;ENST00000541199	T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;3.21	5.4	3.35	0.38373	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.819761	0.10861	N	0.626098	T	0.07548	0.0190	N	0.01267	-0.92	0.20489	N	0.999895	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001	B;B;B;B;B	0.06405	0.001;0.001;0.001;0.002;0.002	T	0.37033	-0.9723	10	0.12103	T	0.63	.	3.7032	0.08390	0.327:0.0:0.4712:0.2018	.	192;192;192;192;191	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4;F5H2L1	.;.;.;GP126_HUMAN;.	I	192;192;192;192;191	ENSP00000230173:V192I;ENSP00000356580:V192I;ENSP00000296932:V192I;ENSP00000356581:V192I;ENSP00000446287:V191I	ENSP00000230173:V192I	V	+	1	0	GPR126	142733128	0.943000	0.32029	0.990000	0.47175	0.220000	0.24768	0.730000	0.26043	0.552000	0.29026	0.650000	0.86243	GTT		0.438	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			10	8	0	0	0	0.09319	0	10	8				
THSD7A	221981	broad.mit.edu	37	7	11486868	11486868	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr7:11486868C>T	ENST00000423059.4	-	12	3040	c.2789G>A	c.(2788-2790)cGc>cAc	p.R930H	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	930	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AACAAGAGTGCGCTTTCTGGT	0.463										HNSCC(18;0.044)																													uc003ssf.3		NA																	0				ovary(3)	3						c.(2788-2790)CGC>CAC		thrombospondin, type I, domain containing 7A							82.0	75.0	77.0					7																	11486868		1942	4153	6095	SO:0001583	missense	221981					integral to membrane		g.chr7:11486868C>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.2789G>A	7.37:g.11486868C>T	ENSP00000406482:p.Arg930His	HNSCC(18;0.044)					p.R930H	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	12	3041	-			930			TSP type-1 9.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000423059.4	37	c.2789G>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	35	5.425012	0.96131	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.66099	-0.19	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.80549	0.4644	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79734	-0.1679	10	0.52906	T	0.07	.	20.2279	0.98344	0.0:1.0:0.0:0.0	.	930	Q9UPZ6	THS7A_HUMAN	H	930	ENSP00000406482:R930H	ENSP00000262042:R930H	R	-	2	0	THSD7A	11453393	1.000000	0.71417	0.948000	0.38648	0.987000	0.75469	7.818000	0.86416	2.778000	0.95560	0.655000	0.94253	CGC		0.463	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		7	23	0	0	0	0.02938	0	7	23				
HOXA10	3206	broad.mit.edu	37	7	27211592	27211592	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr7:27211592G>A	ENST00000283921.4	-	2	1158	c.1159C>T	c.(1159-1161)Cgc>Tgc	p.R387C	HOXA10_ENST00000396344.4_Missense_Mutation_p.R71C|RP1-170O19.20_ENST00000465941.1_Intron|MIR196B_ENST00000384852.1_RNA|HOXA-AS4_ENST00000519935.1_RNA|HOXA-AS4_ENST00000523790.1_RNA|HOXA-AS4_ENST00000519694.1_RNA|HOXA9_ENST00000497089.1_5'Flank|HOXA10_ENST00000521421.1_5'UTR|RP1-170O19.20_ENST00000470747.4_Intron	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	387				R -> P (in Ref. 9; AAD14030/AAD14031). {ECO:0000305}.	anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|male gonad development (GO:0008584)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|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)			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						TTCATCCTGCGGTTCTGAAAC	0.478																																							uc011jzm.1		NA																	0					0						c.(1159-1161)CGC>TGC		homeobox A10 isoform a							96.0	101.0	100.0					7																	27211592		2203	4300	6503	SO:0001583	missense	3206				spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27211592G>A		CCDS5410.2	7p15.2	2011-06-20	2005-12-22		ENSG00000253293	ENSG00000253293		"""Homeoboxes / ANTP class : HOXL subclass"""	5100	protein-coding gene	gene with protein product		142957	"""homeo box A10"""	HOX1H, HOX1		1973146, 1358459	Standard	NR_037939		Approved		uc011jzm.2	P31260	OTTHUMG00000023436	ENST00000283921.4:c.1159C>T	7.37:g.27211592G>A	ENSP00000283921:p.Arg387Cys					MIR196B_hsa-mir-196b|MI0001150_5'Flank|HOXA10_uc003syw.3_Missense_Mutation_p.R71C	p.R387C	NM_018951	NP_061824	P31260	HXA10_HUMAN			2	1189	-			387	R -> P (in Ref. 7; AAD14030/AAD14031).		Homeobox.		O43370|O43605|Q15949|Q504T1	Missense_Mutation	SNP	ENST00000283921.4	37	c.1159C>T	CCDS5410.2	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314467	0.81358	.	.	ENSG00000253293	ENST00000283921;ENST00000396344	D;D	0.97831	-4.56;-4.56	5.68	5.68	0.88126	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.64402	D	0.000001	D	0.99465	0.9810	H	0.99609	4.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97902	1.0303	10	0.87932	D	0	.	19.7917	0.96461	0.0:0.0:1.0:0.0	.	387;71	P31260;Q504T1	HXA10_HUMAN;.	C	387;71	ENSP00000283921:R387C;ENSP00000379633:R71C	ENSP00000283921:R387C	R	-	1	0	HOXA10	27178117	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.688000	0.91661	0.563000	0.77884	CGC		0.478	HOXA10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358724.2			5	53	0	0	0	0.184627	0	5	53				
DPY19L1	23333	broad.mit.edu	37	7	34989430	34989430	+	Silent	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr7:34989430C>T	ENST00000310974.4	-	14	1326	c.1182G>A	c.(1180-1182)gaG>gaA	p.E394E		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	394						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						TAAAGTCAAACTCCGCTGCAC	0.338																																							uc003tem.3		NA																	0					0						c.(1180-1182)GAG>GAA		dpy-19-like 1							43.0	39.0	40.0					7																	34989430		1810	4073	5883	SO:0001819	synonymous_variant	23333					integral to membrane		g.chr7:34989430C>T	AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.1182G>A	7.37:g.34989430C>T							p.E394E	NM_015283	NP_056098	Q2PZI1	D19L1_HUMAN			14	1327	-			394					O94954|Q4G151	Silent	SNP	ENST00000310974.4	37	c.1182G>A	CCDS43567.1																																																																																				0.338	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1			7	28	0	0	0	0.047766	0	7	28				
AMPH	273	broad.mit.edu	37	7	38431514	38431514	+	Silent	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr7:38431514G>A	ENST00000356264.2	-	19	1928	c.1713C>T	c.(1711-1713)gaC>gaT	p.D571D	AMPH_ENST00000428293.2_Silent_p.D529D|AMPH_ENST00000471913.1_5'Flank|AMPH_ENST00000325590.5_Silent_p.D529D	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	571					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GAGGAGCCGCGTCCTCGGTGG	0.607																																							uc003tgu.2		NA																	0				ovary(3)|liver(1)|skin(1)	5						c.(1711-1713)GAC>GAT		amphiphysin isoform 1							62.0	59.0	60.0					7																	38431514		2203	4300	6503	SO:0001819	synonymous_variant	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38431514G>A		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1713C>T	7.37:g.38431514G>A						AMPH_uc003tgv.2_Silent_p.D529D|AMPH_uc003tgt.2_Silent_p.D456D|AMPH_uc003tgw.1_Silent_p.D594D|AMPH_uc010kxl.1_RNA	p.D571D	NM_001635	NP_001626	P49418	AMPH_HUMAN			19	1782	-			571					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Silent	SNP	ENST00000356264.2	37	c.1713C>T	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	G	5.102	0.204474	0.09704	.	.	ENSG00000078053	ENST00000441628	.	.	.	5.75	-9.39	0.00619	.	.	.	.	.	T	0.27933	0.0688	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31943	-0.9925	4	.	.	.	-4.5548	10.8887	0.46984	0.4664:0.3399:0.1937:0.0	.	.	.	.	C	454	.	.	R	-	1	0	AMPH	38398039	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.456000	0.06754	-2.020000	0.00940	-0.952000	0.02654	CGC		0.607	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		14	29	0	0	0	0.146539	0	14	29				
CACNA2D1	781	broad.mit.edu	37	7	81634739	81634739	+	Splice_Site	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr7:81634739C>A	ENST00000356253.5	-	18	1845	c.1590G>T	c.(1588-1590)aaG>aaT	p.K530N	CACNA2D1_ENST00000464354.1_5'Flank|CACNA2D1_ENST00000356860.3_Splice_Site_p.K530N			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	530	Cache.				calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	ATATACTGACCTTTGGCTGAA	0.289																																							uc003uhr.1		NA																	0				ovary(5)|pancreas(1)	6						c.(1588-1590)AAG>AAT		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						43.0	44.0	44.0					7																	81634739		2203	4298	6501	SO:0001630	splice_region_variant	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81634739C>A	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.1590+1G>T	7.37:g.81634739C>A							p.K530N	NM_000722	NP_000713	P54289	CA2D1_HUMAN			18	1846	-			530			Extracellular (Potential).|Cache.		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.1590G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.2|28.2	4.898285|4.898285	0.91962|0.91962	.|.	.|.	ENSG00000153956|ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253|ENST00000443883	T;T|.	0.07444|.	3.19;3.22|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75657|0.75657	0.3879|0.3879	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	D|.	0.62365|.	0.991|.	P|.	0.60541|.	0.876|.	T|T	0.72798|0.72798	-0.4184|-0.4184	10|5	0.42905|.	T|.	0.14|.	-23.9338|-23.9338	19.6607|19.6607	0.95868|0.95868	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	530|.	P54289-2|.	.|.	N|I	530|34	ENSP00000349320:K530N;ENSP00000348589:K530N|.	ENSP00000284088:K530N|.	K|S	-|-	3|2	2|0	CACNA2D1|CACNA2D1	81472675|81472675	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.909000|0.909000	0.53808|0.53808	7.419000|7.419000	0.80179|0.80179	2.736000|2.736000	0.93811|0.93811	0.591000|0.591000	0.81541|0.81541	AAG|AGC		0.289	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding			Missense_Mutation	6	15	1	0	8.12818e-05	0.02938	8.64978e-05	6	15				
ASNS	440	broad.mit.edu	37	7	97481608	97481608	+	Missense_Mutation	SNP	C	C	A	rs552452349		TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr7:97481608C>A	ENST00000394309.3	-	13	2120	c.1649G>T	c.(1648-1650)cGc>cTc	p.R550L	ASNS_ENST00000444334.1_Missense_Mutation_p.R529L|ASNS_ENST00000437628.1_Missense_Mutation_p.R467L|ASNS_ENST00000455086.1_Missense_Mutation_p.R467L|ASNS_ENST00000394308.3_Missense_Mutation_p.R550L|ASNS_ENST00000422745.1_Missense_Mutation_p.R529L|ASNS_ENST00000175506.4_Missense_Mutation_p.R550L	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	550			R -> C (in ASNSD; increases level of protein abundance). {ECO:0000269|PubMed:24139043}.		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GGTCAGCGTGCGGGCAGAAGG	0.512																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	uc003uot.3		NA																	0				ovary(1)	1						c.(1648-1650)CGC>CTC		asparagine synthetase	Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						78.0	69.0	72.0					7																	97481608		2203	4300	6503	SO:0001583	missense	440				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	g.chr7:97481608C>A	M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"""asparagine synthetase"""				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.1649G>T	7.37:g.97481608C>A	ENSP00000377846:p.Arg550Leu					ASNS_uc011kin.1_Missense_Mutation_p.R467L|ASNS_uc003uou.3_Missense_Mutation_p.R550L|ASNS_uc003uov.3_Missense_Mutation_p.R550L|ASNS_uc011kio.1_Missense_Mutation_p.R529L|ASNS_uc003uow.3_Missense_Mutation_p.R529L|ASNS_uc003uox.3_Missense_Mutation_p.R467L	p.R550L	NM_133436	NP_597680	P08243	ASNS_HUMAN			13	2155	-	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)		550					A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	ENST00000394309.3	37	c.1649G>T	CCDS5652.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439488	0.83885	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000437628;ENST00000394308;ENST00000422745;ENST00000455086;ENST00000444334	T;T;T;T;T;T;T	0.57907	0.4;0.4;0.37;0.4;0.42;0.37;0.42	5.23	4.35	0.52113	.	0.052893	0.85682	D	0.000000	T	0.79088	0.4387	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84266	0.0486	10	0.87932	D	0	-7.426	11.6813	0.51458	0.0:0.9133:0.0:0.0867	.	550	P08243	ASNS_HUMAN	L	550;550;467;550;529;467;529	ENSP00000175506:R550L;ENSP00000377846:R550L;ENSP00000414379:R467L;ENSP00000377845:R550L;ENSP00000414901:R529L;ENSP00000408472:R467L;ENSP00000406994:R529L	ENSP00000175506:R550L	R	-	2	0	ASNS	97319544	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	5.580000	0.67464	1.346000	0.45694	0.561000	0.74099	CGC		0.512	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	NM_001673, NM_183356		11	51	1	0	2.80697e-09	0.080935	3.22883e-09	11	51				
EPO	2056	broad.mit.edu	37	7	100319326	100319326	+	Splice_Site	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr7:100319326G>A	ENST00000252723.2	+	2	340	c.159G>A	c.(157-159)acG>acA	p.T53T		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	53					aging (GO:0007568)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular hyperosmotic response (GO:0071474)|cellular response to hypoxia (GO:0071456)|embryo implantation (GO:0007566)|erythrocyte maturation (GO:0043249)|hemoglobin biosynthetic process (GO:0042541)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cation channel activity (GO:2001258)|negative regulation of erythrocyte apoptotic process (GO:1902251)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to axon injury (GO:0048678)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to hyperoxia (GO:0055093)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to salt stress (GO:0009651)|response to testosterone (GO:0033574)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein kinase activator activity (GO:0030295)	p.T53T(1)		central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)					AGAATATCACGGTGAGACCCC	0.612																																							uc003uwi.2		NA																	1	Substitution - coding silent(1)		endometrium(1)	central_nervous_system(2)	2						c.(157-159)ACG>ACA		erythropoietin precursor	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)						45.0	40.0	42.0					7																	100319326		2203	4300	6503	SO:0001630	splice_region_variant	2056				blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity	g.chr7:100319326G>A	X02157	CCDS5705.1	7q21	2014-01-30			ENSG00000130427	ENSG00000130427		"""Endogenous ligands"""	3415	protein-coding gene	gene with protein product		133170				9799793, 3838366	Standard	NM_000799		Approved	EP	uc003uwi.3	P01588	OTTHUMG00000152121	ENST00000252723.2:c.159+1G>A	7.37:g.100319326G>A						EPO_uc011kkc.1_Silent_p.T53T	p.T53T	NM_000799	NP_000790	P01588	EPO_HUMAN			2	340	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		53					Q2M2L6|Q549U2|Q9UDZ0|Q9UEZ5|Q9UHA0	Silent	SNP	ENST00000252723.2	37	c.159G>A	CCDS5705.1																																																																																				0.612	EPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325323.1	NM_000799	Silent	7	29	0	0	0	0.038147	0	7	29				
TAS2R16	50833	broad.mit.edu	37	7	122634844	122634844	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr7:122634844G>T	ENST00000249284.2	-	1	910	c.845C>A	c.(844-846)aCg>aAg	p.T282K		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	282					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCTTTTCAACGTAGGGCTGCT	0.423																																							uc003vkl.1		NA																	0				ovary(1)|skin(1)	2						c.(844-846)ACG>AAG		taste receptor T2R16							112.0	115.0	114.0					7																	122634844		2203	4300	6503	SO:0001583	missense	50833				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	g.chr7:122634844G>T	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.845C>A	7.37:g.122634844G>T	ENSP00000249284:p.Thr282Lys						p.T282K	NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN			1	911	-			282			Cytoplasmic (Potential).		A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	ENST00000249284.2	37	c.845C>A	CCDS5785.1	.	.	.	.	.	.	.	.	.	.	G	0.097	-1.158177	0.01686	.	.	ENSG00000128519	ENST00000249284	T	0.00619	6.18	4.34	-0.107	0.13592	.	0.389366	0.21286	N	0.077070	T	0.00328	0.0010	N	0.02368	-0.58	0.09310	N	1	B	0.18741	0.03	B	0.21708	0.036	T	0.45745	-0.9240	10	0.02654	T	1	.	11.0748	0.48025	0.0:0.0:0.3469:0.6531	.	282	Q9NYV7	T2R16_HUMAN	K	282	ENSP00000249284:T282K	ENSP00000249284:T282K	T	-	2	0	TAS2R16	122422080	0.007000	0.16637	0.000000	0.03702	0.010000	0.07245	0.512000	0.22755	0.152000	0.19188	0.591000	0.81541	ACG		0.423	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945		44	81	1	0	1.63429e-32	0.139131	2.16816e-32	44	81				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	Colon(40;35 892 2973 5743 27438)	uc003vwc.3	V600E(UACC257_SKIN)|V600D(K029AX_SKIN)|V600E(HS695T_SKIN)|V600E(COLO679_SKIN)|V600E(BT474_BREAST)|V600E(IGR39_SKIN)|V600E(A101D_SKIN)|V600E(COLO783_SKIN)|V600E(IGR37_SKIN)|V600E(A375_SKIN)|V600E(WM793_SKIN)|V600E(COLO818_SKIN)|V600E(HS294T_SKIN)|V600E(SKMEL28_SKIN)|V600E(DU4475_BREAST)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(IGR1_SKIN)|V600E(SKHEP1_LIVER)|V600E(WM983B_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(RVH421_SKIN)|V600D(WM2664_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(SKMEL24_SKIN)|V600D(WM115_SKIN)|V600E(MALME3M_SKIN)|V600E(A673_BONE)|V600E(C32_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(COLO800_SKIN)|V600E(COLO741_SKIN)|V600E(HS939T_SKIN)|V600E(COLO205_LARGE_INTESTINE)|V600E(K029AX_SKIN)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(SH4_SKIN)|V600E(WM88_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(COLO849_SKIN)|V600E(MELHO_SKIN)|V600E(BHT101_THYROID)|V600E(G361_SKIN)|V600E(UACC62_SKIN)|V600E(BCPAP_THYROID)|V600E(8505C_THYROID)|V600E(SW1417_LARGE_INTESTINE)|V600E(COLO829_SKIN)|V600E(RKO_LARGE_INTESTINE)|V600E(A2058_SKIN)|V600E(RPMI7951_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(SKMEL5_SKIN)|V600E(ES2_OVARY)|V600E(LOXIMVI_SKIN)	61		Dom	yes		7	7q34	673	Mis|T|O	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	AKAP9|KIAA1549		melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(16892)|p.V600?(325)|p.V600K(176)|p.V600R(36)|p.V600M(25)|p.V600A(23)|p.V600D(21)|p.V600G(11)|p.V600_K601>E(8)|p.T599_V600insTT(3)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600L(2)|p.T599_V600insT(2)|p.V600_W604del(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insV(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290						c.(1798-1800)GTG>GAG		B-Raf	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous_syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333	NP_004324	P15056	BRAF_HUMAN			15	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		24	53	0	0	0	0.134883	0	24	53				
BRAF	673	broad.mit.edu	37	7	140534477	140534477	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr7:140534477G>A	ENST00000288602.6	-	3	496	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	146					activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	GGGTTGCTCCGTGCCACATCT	0.438		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	Colon(40;35 892 2973 5743 27438)	uc003vwc.3		61		Dom	yes		7	7q34	673	Mis|T|O	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	AKAP9|KIAA1549		melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	0				thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290						c.(436-438)CGG>TGG		B-Raf	Sorafenib(DB00398)						163.0	147.0	152.0					7																	140534477		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous_syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140534477G>A	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.436C>T	7.37:g.140534477G>A	ENSP00000288602:p.Arg146Trp						p.R146W	NM_004333	NP_004324	P15056	BRAF_HUMAN			3	497	-	Melanoma(164;0.00956)		146					A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.436C>T	CCDS5863.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057417	0.76074	.	.	ENSG00000157764	ENST00000288602	T	0.76186	-1.0	5.47	3.57	0.40892	.	0.053957	0.85682	N	0.000000	T	0.77191	0.4094	L	0.39898	1.24	0.58432	D	0.999999	D	0.89917	1.0	D	0.67548	0.952	T	0.76000	-0.3119	10	0.44086	T	0.13	.	9.7196	0.40295	0.0698:0.0:0.7028:0.2274	.	146	P15056	BRAF_HUMAN	W	146	ENSP00000288602:R146W	ENSP00000288602:R146W	R	-	1	2	BRAF	140180946	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.032000	0.49736	1.451000	0.47736	0.655000	0.94253	CGG		0.438	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		26	61	0	0	0	0.108266	0	26	61				
XKR5	389610	broad.mit.edu	37	8	6682698	6682698	+	RNA	SNP	T	T	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr8:6682698T>A	ENST00000518724.1	-	0	566							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		TGGCACAATATCTGTGAAGTC	0.557																																							uc003wqp.2		NA																	0					0						c.(415-417)GAT>GTT		XK-related protein 5a							51.0	52.0	52.0					8																	6682698		1967	4154	6121			389610					integral to membrane		g.chr8:6682698T>A	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 5"""				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6682698T>A						XKR5_uc003wqq.2_5'UTR|XKR5_uc003wqr.1_RNA	p.D139V	NM_207411	NP_997294	Q6UX68	XKR5_HUMAN	STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)	3	438	-			139					Q5GH74	Missense_Mutation	SNP	ENST00000518724.1	37	c.416A>T																																																																																					0.557	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	NM_207411		9	21	0	0	0	0.09319	0	9	21				
PRKDC	5591	broad.mit.edu	37	8	48801713	48801713	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr8:48801713C>A	ENST00000314191.2	-	34	4195	c.4139G>T	c.(4138-4140)aGc>aTc	p.S1380I	PRKDC_ENST00000338368.3_Missense_Mutation_p.S1380I|PRKDC_ENST00000523565.1_5'UTR|AC103686.1_ENST00000390136.2_RNA	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1381					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GAAACCTATGCTTGCGGGCTC	0.443								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NA																	0				lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(4141-4143)AGC>ATC	NHEJ	protein kinase, DNA-activated, catalytic							79.0	81.0	80.0					8																	48801713		1978	4161	6139	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48801713C>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.4139G>T	8.37:g.48801713C>A	ENSP00000313420:p.Ser1380Ile					PRKDC_uc003xqj.2_Missense_Mutation_p.S1381I|PRKDC_uc011ldh.1_Intron	p.S1381I	NM_006904	NP_008835	P78527	PRKDC_HUMAN			34	4199	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1381					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.4142G>T		.	.	.	.	.	.	.	.	.	.	C	7.737	0.700458	0.15106	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02709	4.26;4.19	5.6	4.73	0.59995	.	0.374455	0.30473	N	0.009556	T	0.06416	0.0165	M	0.71581	2.175	0.09310	N	1	B;B	0.30511	0.066;0.282	B;B	0.38106	0.035;0.265	T	0.13656	-1.0501	10	0.56958	D	0.05	.	9.0944	0.36629	0.0:0.7908:0.0:0.2092	.	1380;1381	E7EUY0;P78527	.;PRKDC_HUMAN	I	1380	ENSP00000313420:S1380I;ENSP00000345182:S1380I	ENSP00000313420:S1380I	S	-	2	0	PRKDC	48964266	0.001000	0.12720	0.009000	0.14445	0.002000	0.02628	1.122000	0.31295	1.361000	0.45981	0.655000	0.94253	AGC		0.443	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		13	29	1	0	6.72482e-11	0.132662	7.96571e-11	13	29				
NCOA2	10499	broad.mit.edu	37	8	71075726	71075726	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr8:71075726C>T	ENST00000452400.2	-	8	987	c.806G>A	c.(805-807)aGt>aAt	p.S269N		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	269					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	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)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			AGTAGTAAAACTTTCTGATGA	0.393			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																		uc003xyn.1		NA		Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	RUNXBP2		AML	PAX3/NCOA2(4)	0				lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16						c.(805-807)AGT>AAT		nuclear receptor coactivator 2							97.0	93.0	94.0					8																	71075726		1869	4105	5974	SO:0001583	missense	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71075726C>T	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.806G>A	8.37:g.71075726C>T	ENSP00000399968:p.Ser269Asn						p.S269N	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		8	968	-	Breast(64;0.201)		269					Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	c.806G>A	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601540	0.87055	.	.	ENSG00000140396	ENST00000452400	T	0.18657	2.2	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.42131	0.1189	M	0.79258	2.445	0.80722	D	1	D	0.58620	0.983	P	0.53809	0.735	T	0.24728	-1.0152	10	0.72032	D	0.01	.	17.0531	0.86525	0.0:0.8734:0.1266:0.0	.	269	Q15596	NCOA2_HUMAN	N	269	ENSP00000399968:S269N	ENSP00000399968:S269N	S	-	2	0	NCOA2	71238280	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.153000	0.50685	2.941000	0.99782	0.655000	0.94253	AGT		0.393	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			17	31	0	0	0	0.175082	0	17	31				
SLC25A32	81034	broad.mit.edu	37	8	104419926	104419926	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr8:104419926G>A	ENST00000297578.4	-	2	407	c.241C>T	c.(241-243)Ctt>Ttt	p.L81F	SLC25A32_ENST00000543107.1_5'UTR	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	81					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	CCTTGATAAAGTCCCCGTAGT	0.388																																							uc003yll.2		NA																	0				ovary(1)	1						c.(241-243)CTT>TTT		solute carrier family 25, member 32	Folic Acid(DB00158)						160.0	162.0	161.0					8																	104419926		2203	4300	6503	SO:0001583	missense	81034				folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity	g.chr8:104419926G>A	AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"""Solute carriers"""	29683	protein-coding gene	gene with protein product		610815	"""solute carrier family 25, member 32"""			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790	ENST00000297578.4:c.241C>T	8.37:g.104419926G>A	ENSP00000297578:p.Leu81Phe					SLC25A32_uc011lhr.1_5'UTR	p.L81F	NM_030780	NP_110407	Q9H2D1	MFTC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		2	544	-			81			Solcar 1.		Q96JZ6|Q96SU7	Missense_Mutation	SNP	ENST00000297578.4	37	c.241C>T	CCDS6300.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.618262	0.87359	.	.	ENSG00000164933	ENST00000297578;ENST00000424899	D	0.83419	-1.72	6.05	6.05	0.98169	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.85847	0.5792	L	0.45051	1.395	0.80722	D	1	D	0.55172	0.97	P	0.59546	0.859	D	0.84939	0.0864	10	0.46703	T	0.11	-22.3835	14.1701	0.65503	0.0764:0.0:0.9236:0.0	.	81	Q9H2D1	MFTC_HUMAN	F	81;65	ENSP00000297578:L81F	ENSP00000297578:L81F	L	-	1	0	SLC25A32	104489102	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.131000	0.64751	2.878000	0.98634	0.650000	0.86243	CTT		0.388	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380290.2	NM_030780		55	77	0	0	0	0.139131	0	55	77				
COL22A1	169044	broad.mit.edu	37	8	139606389	139606389	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr8:139606389G>C	ENST00000303045.6	-	63	4932	c.4486C>G	c.(4486-4488)Caa>Gaa	p.Q1496E	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.Q1476E	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1496	Collagen-like 15.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGTCTGCCTTGAGATGACTTC	0.617										HNSCC(7;0.00092)																													uc003yvd.2		NA																	0				ovary(11)|pancreas(1)|skin(1)	13						c.(4486-4488)CAA>GAA		collagen, type XXII, alpha 1							37.0	42.0	40.0					8																	139606389		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139606389G>C	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4486C>G	8.37:g.139606389G>C	ENSP00000303153:p.Gln1496Glu	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Missense_Mutation_p.Q776E	p.Q1496E	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		63	4933	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1496			Pro-rich.|Gly-rich.|Collagen-like 15.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.4486C>G	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.514084	0.44763	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.92397	-3.03;-3.03	5.92	5.92	0.95590	.	0.135982	0.33401	N	0.004948	D	0.86310	0.5902	N	0.16708	0.43	0.28889	N	0.893937	B;P	0.37573	0.199;0.6	B;B	0.41374	0.355;0.315	T	0.74985	-0.3477	10	0.05620	T	0.96	.	19.3538	0.94402	0.0:0.0:1.0:0.0	.	1476;1496	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	E	1496;1476;1189	ENSP00000303153:Q1496E;ENSP00000387655:Q1476E	ENSP00000303153:Q1496E	Q	-	1	0	COL22A1	139675571	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.902000	0.75699	2.820000	0.97059	0.650000	0.86243	CAA		0.617	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		3	40	0	0	0	0.115264	0	3	40				
IFNA16	3449	broad.mit.edu	37	9	21216973	21216973	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr9:21216973T>C	ENST00000380216.1	-	1	337	c.332A>G	c.(331-333)gAa>gGa	p.E111G		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	111					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CTGGAAAAGTTCAATGTAGAA	0.488																																							uc003zor.1		NA																	0				skin(1)	1						c.(331-333)GAA>GGA		interferon, alpha 16 precursor							143.0	143.0	143.0					9																	21216973		2203	4300	6503	SO:0001583	missense	3449				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21216973T>C		CCDS34996.1	9p22	2010-12-10			ENSG00000147885	ENSG00000147885		"""Interferons"""	5421	protein-coding gene	gene with protein product		147580				1385305	Standard	NM_002173		Approved	IFN-alphaO	uc003zor.1	P05015	OTTHUMG00000019663	ENST00000380216.1:c.332A>G	9.37:g.21216973T>C	ENSP00000369564:p.Glu111Gly					IFNA14_uc003zoo.1_Intron	p.E111G	NM_002173	NP_002164	P05015	IFN16_HUMAN		Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)	1	338	-			111					Q5VV12	Missense_Mutation	SNP	ENST00000380216.1	37	c.332A>G	CCDS34996.1	.	.	.	.	.	.	.	.	.	.	-	0.010	-1.756036	0.00663	.	.	ENSG00000147885	ENST00000380216	T	0.03580	3.88	2.62	-5.24	0.02789	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.562834	0.18462	N	0.140489	T	0.00998	0.0033	N	0.01817	-0.705	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.34354	-0.9832	10	0.02654	T	1	.	6.7362	0.23411	0.0:0.6396:0.1574:0.2031	.	111	P05015	IFN16_HUMAN	G	111	ENSP00000369564:E111G	ENSP00000369564:E111G	E	-	2	0	IFNA16	21206973	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.511000	0.02260	-1.370000	0.02144	0.155000	0.16302	GAA		0.488	IFNA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051892.1	NM_002173		36	200	0	0	0	0.193644	0	36	200				
ABCA1	19	broad.mit.edu	37	9	107562812	107562812	+	Silent	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr9:107562812C>T	ENST00000374736.3	-	35	5146	c.4752G>A	c.(4750-4752)ctG>ctA	p.L1584L		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1584					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TTTTGGTGTCCAGTCCTGTCA	0.393																																							uc004bcl.2		NA																	0				large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17						c.(4750-4752)CTG>CTA		ATP-binding cassette, sub-family A member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						194.0	165.0	175.0					9																	107562812		2203	4300	6503	SO:0001819	synonymous_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107562812C>T	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.4752G>A	9.37:g.107562812C>T							p.L1584L	NM_005502	NP_005493	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	35	5065	-			1584			Extracellular.		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	ENST00000374736.3	37	c.4752G>A	CCDS6762.1																																																																																				0.393	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		9	107	0	0	0	0.069234	0	9	107				
ZBTB34	403341	broad.mit.edu	37	9	129642655	129642655	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr9:129642655A>G	ENST00000373452.2	+	1	1029	c.965A>G	c.(964-966)cAg>cGg	p.Q322R	ZBTB34_ENST00000319119.4_Missense_Mutation_p.Q326R			Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	322					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						CGTGCCCGCCAGAAGCGGGCT	0.567																																							uc004bqm.3		NA																	0				ovary(1)	1						c.(964-966)CAG>CGG		zinc finger and BTB domain containing 34							28.0	31.0	30.0					9																	129642655		1902	4111	6013	SO:0001583	missense	403341				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:129642655A>G	DQ227306	CCDS48023.1	9q33.3	2013-01-08			ENSG00000177125	ENSG00000177125		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31446	protein-coding gene	gene with protein product		611692				16718364	Standard	NM_001099270		Approved	KIAA1993, MGC24652, ZNF918	uc004bqm.4	Q8NCN2	OTTHUMG00000020694	ENST00000373452.2:c.965A>G	9.37:g.129642655A>G	ENSP00000362551:p.Gln322Arg						p.Q322R	NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN			2	1062	+			322					Q38IA7|Q5VYE9	Missense_Mutation	SNP	ENST00000373452.2	37	c.965A>G	CCDS48023.1	.	.	.	.	.	.	.	.	.	.	A	14.93	2.681852	0.47991	.	.	ENSG00000177125	ENST00000319119;ENST00000373452	T;T	0.09817	2.94;2.95	5.78	5.78	0.91487	.	0.116753	0.64402	D	0.000019	T	0.07324	0.0185	L	0.29908	0.895	0.44221	D	0.997055	P	0.38978	0.652	B	0.23419	0.046	T	0.41070	-0.9529	10	0.17832	T	0.49	.	16.1095	0.81250	1.0:0.0:0.0:0.0	.	322	Q8NCN2	ZBT34_HUMAN	R	326;322	ENSP00000317534:Q326R;ENSP00000362551:Q322R	ENSP00000317534:Q326R	Q	+	2	0	ZBTB34	128682476	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	6.354000	0.73036	2.205000	0.71048	0.533000	0.62120	CAG		0.567	ZBTB34-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001099270		11	21	0	0	0	0.080935	0	11	21				
MXRA5	25878	broad.mit.edu	37	X	3235828	3235828	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chrX:3235828C>G	ENST00000217939.6	-	6	6048	c.5894G>C	c.(5893-5895)gGa>gCa	p.G1965A		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1965	Ig-like C2-type 4.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AATGGTGTCTCCCAGGTAGAC	0.582																																							uc004crg.3		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(5893-5895)GGA>GCA		adlican precursor							101.0	80.0	87.0					X																	3235828		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3235828C>G	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.5894G>C	X.37:g.3235828C>G	ENSP00000217939:p.Gly1965Ala						p.G1965A	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			6	6051	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1965			Ig-like C2-type 4.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.5894G>C	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	16.08	3.022957	0.54683	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.81247	-1.47	3.64	3.64	0.41730	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36374	U	0.002635	D	0.90376	0.6988	M	0.87328	2.875	0.53005	D	0.999961	D	0.89917	1.0	D	0.97110	1.0	D	0.92430	0.5953	10	0.87932	D	0	.	15.1211	0.72443	0.0:1.0:0.0:0.0	.	1965	Q9NR99	MXRA5_HUMAN	A	1965	ENSP00000217939:G1965A	ENSP00000217939:G1965A	G	-	2	0	MXRA5	3245828	1.000000	0.71417	0.983000	0.44433	0.303000	0.27691	6.693000	0.74582	1.443000	0.47586	0.600000	0.82982	GGA		0.582	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		4	20	0	0	0	0.184627	0	4	20				
RGAG4	340526	broad.mit.edu	37	X	71350580	71350580	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chrX:71350580G>A	ENST00000545866.1	-	1	1178	c.811C>T	c.(811-813)Cgc>Tgc	p.R271C	RGAG4_ENST00000609883.1_Missense_Mutation_p.R271C|NHSL2_ENST00000373677.1_5'Flank|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	271										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					TTTTGGAGGCGGCAGTCATCC	0.507																																							uc010nlh.1		NA																	0				ovary(2)|skin(1)	3						c.(811-813)CGC>TGC		retrotransposon gag domain containing 4							80.0	78.0	79.0					X																	71350580		1921	4122	6043	SO:0001583	missense	340526							g.chrX:71350580G>A	AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.811C>T	X.37:g.71350580G>A	ENSP00000441366:p.Arg271Cys					NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA|NHSL2_uc004eak.1_5'Flank	p.R271C	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN			1	1172	-	Renal(35;0.156)		271					A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	37	c.811C>T	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.842918	0.51057	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.12672	2.66;2.66	3.82	3.82	0.43975	Retrotransposon gag protein (1);	.	.	.	.	T	0.15696	0.0378	N	0.08118	0	0.38700	D	0.95296	D	0.89917	1.0	D	0.87578	0.998	T	0.18053	-1.0349	8	.	.	.	-4.5442	10.1764	0.42941	0.0:0.0:1.0:0.0	.	271	Q5HYW3	RGAG4_HUMAN	C	271	ENSP00000441366:R271C;ENSP00000418667:R271C	.	R	-	1	0	RGAG4	71267305	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.327000	0.33746	2.156000	0.67533	0.529000	0.55759	CGC		0.507	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		13	66	0	0	0	0.11911	0	13	66				
GPR174	84636	broad.mit.edu	37	X	78427044	78427044	+	Silent	SNP	C	C	G			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chrX:78427044C>G	ENST00000276077.1	+	1	576	c.540C>G	c.(538-540)gcC>gcG	p.A180A		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						TCAACCTGGCCCAGTCCGTTG	0.463										HNSCC(63;0.18)																													uc004edg.1		NA																	0				lung(1)|central_nervous_system(1)	2						c.(538-540)GCC>GCG		putative purinergic receptor FKSG79							118.0	102.0	108.0					X																	78427044		2203	4300	6503	SO:0001819	synonymous_variant	84636					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78427044C>G	AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"""GPCR / Class A : Orphans"""	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.540C>G	X.37:g.78427044C>G		HNSCC(63;0.18)					p.A180A	NM_032553	NP_115942	Q9BXC1	GP174_HUMAN			1	576	+			180			Extracellular (Potential).		Q2M3F7	Silent	SNP	ENST00000276077.1	37	c.540C>G	CCDS14443.1																																																																																				0.463	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	NM_032553		35	28	0	0	0	0.203993	0	35	28				
PCDH11X	27328	broad.mit.edu	37	X	91134202	91134202	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chrX:91134202C>T	ENST00000373094.1	+	2	3808	c.2963C>T	c.(2962-2964)cCc>cTc	p.P988L	PCDH11X_ENST00000361655.2_Missense_Mutation_p.P988L|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P988L|PCDH11X_ENST00000504220.2_Missense_Mutation_p.P988L|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P988L|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P988L|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P988L|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P988L|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P988L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	988					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AGTTCAGATCCCTACAGCGTT	0.498																																					NSCLC(38;925 1092 2571 38200 45895)	NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	0				large_intestine(2)	2						c.(2962-2964)CCC>CTC		protocadherin 11 X-linked isoform c							241.0	184.0	204.0					X																	91134202		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91134202C>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2963C>T	X.37:g.91134202C>T	ENSP00000362186:p.Pro988Leu					PCDH11X_uc004efl.1_Missense_Mutation_p.P988L|PCDH11X_uc004efo.1_Missense_Mutation_p.P988L|PCDH11X_uc010nmv.1_Missense_Mutation_p.P988L|PCDH11X_uc004efm.1_Missense_Mutation_p.P988L|PCDH11X_uc004efn.1_Missense_Mutation_p.P988L|PCDH11X_uc004efh.1_Missense_Mutation_p.P988L|PCDH11X_uc004efj.1_Missense_Mutation_p.P988L	p.P988L	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	3808	+			988			Cytoplasmic (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.2963C>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.558838	0.45590	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54	5.35	4.47	0.54385	Protocadherin (1);	0.062950	0.64402	D	0.000004	T	0.52224	0.1721	M	0.62723	1.935	0.58432	D	0.999996	D;D;D;D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;1.0;1.0;1.0;0.995	D;D;D;D;D;D;D;D	0.91635	0.973;0.979;0.979;0.979;0.979;0.988;0.999;0.962	T	0.53158	-0.8478	10	0.56958	D	0.05	.	14.1323	0.65263	0.0:0.8529:0.1471:0.0	.	988;988;988;988;988;988;988;988	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	L	988	ENSP00000378746:P988L;ENSP00000362186:P988L;ENSP00000362189:P988L;ENSP00000355040:P988L;ENSP00000362180:P988L;ENSP00000423762:P988L;ENSP00000355105:P988L;ENSP00000384758:P988L;ENSP00000298274:P988L	ENSP00000298274:P988L	P	+	2	0	PCDH11X	91020858	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	7.209000	0.77916	0.999000	0.39023	0.600000	0.82982	CCC		0.498	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		62	57	0	0	0	0.139131	0	62	57				
JTB	10899	broad.mit.edu	37	1	153949696	153949711	+	Frame_Shift_Del	DEL	GGGGAGGCCAGGCCTC	GGGGAGGCCAGGCCTC	-			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	GGGGAGGCCAGGCCTC	GGGGAGGCCAGGCCTC	-	-	GGGGAGGCCAGGCCTC	GGGGAGGCCAGGCCTC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:153949696_153949711delGGGGAGGCCAGGCCTC	ENST00000271843.4	-	1	453_468	c.18_33delGAGGCCTGGCCTCCCC	c.(16-33)gggaggcctggcctccccfs	p.GRPGLP6fs	JTB_ENST00000356648.1_5'UTR|JTB_ENST00000471173.1_5'UTR|JTB_ENST00000368589.1_5'UTR|RP11-422P24.11_ENST00000608236.1_lincRNA	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	jumping translocation breakpoint	6					apoptotic mitochondrial changes (GO:0008637)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|positive regulation of protein kinase activity (GO:0045860)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)	protein kinase binding (GO:0019901)	p.P8P(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGCGGCCCTGGGGGAGGCCAGGCCTCCCGGCACCCG	0.639																																							uc001fds.2		NA																	1	Substitution - coding silent(1)		kidney(1)		0						c.(16-33)GGGAGGCCTGGCCTCCCCfs		jumping translocation breakpoint precursor																																				SO:0001589	frameshift_variant	10899				apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding	g.chr1:153949696_153949711delGGGGAGGCCAGGCCTC	AB016488	CCDS1057.1	1q21	2010-11-16			ENSG00000143543	ENSG00000143543			6201	protein-coding gene	gene with protein product	"""prostate androgen-regulated gene"""	604671				10321732	Standard	NM_006694		Approved	hJT	uc001fds.3	O76095	OTTHUMG00000036590	ENST00000271843.4:c.18_33delGAGGCCTGGCCTCCCC	1.37:g.153949696_153949711delGGGGAGGCCAGGCCTC	ENSP00000271843:p.Gly6fs						p.G6fs	NM_006694	NP_006685	O76095	JTB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		1	741_756	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		6_11					O95442|Q6IB19|Q9P0Q4	Frame_Shift_Del	DEL	ENST00000271843.4	37	c.18_33delGAGGCCTGGCCTCCCC	CCDS1057.1																																																																																				0.639	JTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088996.1	NM_006694		8	92	NA	NA	NA	NA	NA	8	92	---	---	---	---
MARK1	4139	broad.mit.edu	37	1	220791735	220791736	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:220791735_220791736insT	ENST00000366917.4	+	8	902_903	c.636_637insT	c.(637-639)ttgfs	p.L213fs	MARK1_ENST00000402574.1_Frame_Shift_Ins_p.L78fs|MARK1_ENST00000366918.4_Frame_Shift_Ins_p.L191fs					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TTGGGAACAAATTGGACACATT	0.411																																							uc001hmn.3		NA																	0				ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10						c.(634-639)AAATTGfs		MAP/microtubule affinity-regulating kinase 1																																				SO:0001589	frameshift_variant	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220791735_220791736insT	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.638dupT	1.37:g.220791737_220791737dupT	ENSP00000355884:p.Leu213fs					MARK1_uc009xdw.2_Frame_Shift_Ins_p.K212fs|MARK1_uc010pun.1_Frame_Shift_Ins_p.K212fs|MARK1_uc001hmm.3_Frame_Shift_Ins_p.K190fs	p.K212fs	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	8	1233_1234	+			212_213			Protein kinase.			Frame_Shift_Ins	INS	ENST00000366917.4	37	c.636_637insT	CCDS31029.2																																																																																				0.411	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			38	35	NA	NA	NA	NA	NA	38	35	---	---	---	---
IRF2BPL	64207	broad.mit.edu	37	14	77493792	77493794	+	In_Frame_Del	DEL	TGT	TGT	-	rs377151545|rs28718623|rs71125518	byFrequency	TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	TGT	TGT	-	-	TGT	TGT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr14:77493792_77493794delTGT	ENST00000238647.3	-	1	1240_1242	c.342_344delACA	c.(340-345)caacag>cag	p.114_115QQ>Q		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	114	Poly-Gln.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						ctgctgctgctgttgctgctgct	0.7																																							uc001xsy.2		NA																	0					0						c.(340-345)CAACAG>CAG		chromosome 14 open reading frame 4				1119,1147		390,339,404						-1.3	0.0			2	2585,1523		1057,471,526	no	coding	IRF2BPL	NM_024496.2		1447,810,930	A1A1,A1R,RR		37.074,49.3822,41.8889				3704,2670				SO:0001651	inframe_deletion	64207					nucleus		g.chr14:77493792_77493794delTGT	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"""enhanced at puberty 1"""	611720	"""chromosome 14 open reading frame 4"""	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.342_344delACA	14.37:g.77493792_77493794delTGT	ENSP00000238647:p.Gln127del						p.114_115QQ>Q	NM_024496	NP_078772	Q9H1B7	I2BPL_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.00347)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)	1	1241_1243	-			114_115			Poly-Gln.|Potential.		Q8NDQ2|Q96JG2|Q9H3I7	In_Frame_Del	DEL	ENST00000238647.3	37	c.342_344delACA	CCDS9854.1																																																																																				0.700	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
MGRN1	23295	broad.mit.edu	37	16	4727498	4727500	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	GAA	GAA	-	-	GAA	GAA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr16:4727498_4727500delGAA	ENST00000399577.5	+	11	1083_1085	c.990_992delGAA	c.(988-993)cggaag>cgg	p.K332del	MGRN1_ENST00000415496.1_In_Frame_Del_p.K333del|MGRN1_ENST00000588994.1_In_Frame_Del_p.K332del|MGRN1_ENST00000262370.7_In_Frame_Del_p.K332del|MGRN1_ENST00000586183.1_In_Frame_Del_p.K332del	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	332					endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						GGGCGGTGCGGAAGAAGCCAGGA	0.685																																							uc002cwz.2		NA																	0				ovary(1)|skin(1)	2						c.(988-993)CGGAAG>CGG		mahogunin, ring finger 1 isoform 3																																				SO:0001651	inframe_deletion	23295				endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:4727498_4727500delGAA	AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"""RING-type (C3HC4) zinc fingers"""	20254	protein-coding gene	gene with protein product		607559	"""mahogunin, ring finger 1"""			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.990_992delGAA	16.37:g.4727501_4727503delGAA	ENSP00000382487:p.Lys332del					MGRN1_uc002cxa.2_In_Frame_Del_p.K332del|MGRN1_uc010btx.2_In_Frame_Del_p.K333del|MGRN1_uc010btw.2_In_Frame_Del_p.K333del|MGRN1_uc002cxb.2_In_Frame_Del_p.K371del|MGRN1_uc010uxo.1_In_Frame_Del_p.K332del|MGRN1_uc010uxp.1_In_Frame_Del_p.K332del|MGRN1_uc010uxq.1_Intron	p.K332del	NM_001142290	NP_001135762	O60291	MGRN1_HUMAN			11	1126_1128	+			332					A4URL3|A4URL4|Q86W76	In_Frame_Del	DEL	ENST00000399577.5	37	c.990_992delGAA	CCDS45402.1																																																																																				0.685	MGRN1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432060.2			15	38	NA	NA	NA	NA	NA	15	38	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579583	7579583	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr17:7579583delA	ENST00000269305.4	-	4	293	c.104delT	c.(103-105)ttgfs	p.L35fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.L35fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.L35fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.L35fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.L35fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Del_p.L35fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	35	Interaction with HRMT1L2.|Transcription activation (acidic).		L -> F (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.L35fs*8(4)|p.?(1)|p.S33fs*23(1)|p.P13fs*18(1)|p.S33fs*6(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTGGGACGGCAAGGGGGACTG	0.597		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		16	Whole gene deletion(8)|Insertion - Frameshift(4)|Deletion - Frameshift(3)|Unknown(1)	p.0?(7)|p.L35F(3)|p.L35fs*9(2)|p.L35fs*8(1)|p.?(1)|p.S33fs*23(1)|p.P13fs*18(1)|p.S33fs*6(1)	large_intestine(4)|bone(4)|upper_aerodigestive_tract(2)|central_nervous_system(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(103-105)TTGfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							149.0	146.0	147.0					17																	7579583		2203	4300	6503	SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579583delA	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.104delT	17.37:g.7579583delA	ENSP00000269305:p.Leu35fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Frame_Shift_Del_p.L35fs|TP53_uc002gih.2_Frame_Shift_Del_p.L35fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.L35fs|TP53_uc010cni.1_Frame_Shift_Del_p.L35fs|TP53_uc002gij.2_Frame_Shift_Del_p.L35fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_5'UTR|TP53_uc010cnk.1_Frame_Shift_Del_p.L50fs	p.L35fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	298	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	35		L -> F (in sporadic cancers; somatic mutation).	Transcription activation (acidic).|Interaction with HRMT1L2.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.104delT	CCDS11118.1																																																																																				0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		73	107	NA	NA	NA	NA	NA	73	107	---	---	---	---
SETBP1	26040	broad.mit.edu	37	18	42531549	42531549	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr18:42531549delC	ENST00000282030.5	+	4	2540	c.2244delC	c.(2242-2244)cacfs	p.H748fs		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	748						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCATCAAGCACCCCAGGCCTG	0.562									Schinzel-Giedion syndrome																														uc010dni.2		NA																	0				upper_aerodigestive_tract(2)|large_intestine(1)	3						c.(2242-2244)CACfs		SET binding protein 1 isoform a							40.0	45.0	43.0					18																	42531549		2203	4300	6503	SO:0001589	frameshift_variant	26040	Schinzel-Giedion_syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42531549delC	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.2244delC	18.37:g.42531549delC	ENSP00000282030:p.His748fs						p.H748fs	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	2540	+			748					A6H8W5|Q6P6C3|Q9UEF3	Frame_Shift_Del	DEL	ENST00000282030.5	37	c.2244delC	CCDS11923.2																																																																																				0.562	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		21	57	NA	NA	NA	NA	NA	21	57	---	---	---	---
DSEL	92126	broad.mit.edu	37	18	65180619	65180619	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr18:65180619delT	ENST00000310045.7	-	2	2730	c.1257delA	c.(1255-1257)atafs	p.I419fs	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	409					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GGAATGTGTGTATTTTTGCAG	0.488																																							uc002lke.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6						c.(1255-1257)ATAfs		dermatan sulfate epimerase-like							89.0	72.0	78.0					18																	65180619		2203	4300	6503	SO:0001589	frameshift_variant	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65180619delT	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.1257delA	18.37:g.65180619delT	ENSP00000310565:p.Ile419fs						p.I419fs	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN			2	2481	-		Esophageal squamous(42;0.129)	409					Q17RH1|Q6P5Z3	Frame_Shift_Del	DEL	ENST00000310045.7	37	c.1257delA	CCDS11995.1																																																																																				0.488	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		23	36	NA	NA	NA	NA	NA	23	36	---	---	---	---
SGOL2	151246	broad.mit.edu	37	2	201434609	201434609	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr2:201434609delC	ENST00000357799.4	+	6	795	c.697delC	c.(697-699)cccfs	p.P233fs	SGOL2_ENST00000409203.3_Frame_Shift_Del_p.P233fs	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	233					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TGATGTACCTCCCAGAGGTGA	0.289																																							uc002uvw.2		NA																	0				ovary(2)|skin(2)	4						c.(697-699)CCCfs		shugoshin-like 2 isoform 1							65.0	67.0	66.0					2																	201434609		1803	4068	5871	SO:0001589	frameshift_variant	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201434609delC	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.697delC	2.37:g.201434609delC	ENSP00000350447:p.Pro233fs					SGOL2_uc002uvv.3_Frame_Shift_Del_p.P233fs|SGOL2_uc010zhd.1_Frame_Shift_Del_p.P233fs|SGOL2_uc010zhe.1_Frame_Shift_Del_p.P233fs	p.P233fs	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN			6	810	+			233					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Frame_Shift_Del	DEL	ENST00000357799.4	37	c.697delC	CCDS42796.1																																																																																				0.289	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		19	59	NA	NA	NA	NA	NA	19	59	---	---	---	---
FAM175A	84142	broad.mit.edu	37	4	84393370	84393390	+	Splice_Site	DEL	AATACCTTTTTGACATTTGAT	AATACCTTTTTGACATTTGAT	-			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	AATACCTTTTTGACATTTGAT	AATACCTTTTTGACATTTGAT	-	-	AATACCTTTTTGACATTTGAT	AATACCTTTTTGACATTTGAT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr4:84393370_84393390delAATACCTTTTTGACATTTGAT	ENST00000321945.7	-	4	375_391	c.267_283delATCAAATGTCAAAAAGGTATT	c.(265-285)ttatcaaatgtcaaaaaggta>ttta	p.89_95LSNVKKV>F	FAM175A_ENST00000506553.1_Splice_Site_p.40_46LSNVKKV>F|FAM175A_ENST00000505489.1_5'UTR	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	89	MPN-like.				chromatin modification (GO:0016568)|double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						TAAATTAGAGAATACCTTTTTGACATTTGATAATATTTTCT	0.281																																							uc003hou.2		NA																	0				kidney(1)	1						c.e4+1		coiled-coil domain containing 98																																				SO:0001630	splice_region_variant	84142				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding	g.chr4:84393370_84393390delAATACCTTTTTGACATTTGAT	AK023676	CCDS3605.2	4q21.23	2008-10-31	2008-07-02	2008-07-02	ENSG00000163322	ENSG00000163322			25829	protein-coding gene	gene with protein product	"""Abraxas protein"""	611143	"""coiled-coil domain containing 98"""	CCDC98		12975309, 17525340	Standard	NM_139076		Approved	FLJ13614, ABRA1	uc003hou.2	Q6UWZ7	OTTHUMG00000130429	ENST00000321945.7:c.282+1ATCAAATGTCAAAAAGGTATT>-	4.37:g.84393370_84393390delAATACCTTTTTGACATTTGAT						FAM175A_uc003hot.2_5'Flank|FAM175A_uc003hov.2_Intron	p.K94_splice	NM_139076	NP_620775	Q6UWZ7	F175A_HUMAN			4	347	-								A5JJ07|Q9H8I1|Q9H9N4	Splice_Site	DEL	ENST00000321945.7	37	c.282_splice	CCDS3605.2																																																																																				0.281	FAM175A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252818.1	NM_139076	In_Frame_Del	3	6	NA	NA	NA	NA	NA	3	6	---	---	---	---
PRPF4B	8899	broad.mit.edu	37	6	4032674	4032674	+	Frame_Shift_Del	DEL	G	G	-	rs372845148		TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr6:4032674delG	ENST00000337659.6	+	2	1023	c.923delG	c.(922-924)cggfs	p.R308fs	PRPF4B_ENST00000538861.1_Frame_Shift_Del_p.R294fs	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	308	Arg/Lys-rich (basic).				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R308Q(1)		breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AGAAGGTCACGGTCCAAAGAG	0.368																																							uc003mvv.2		NA																	1	Substitution - Missense(1)		central_nervous_system(1)	breast(5)	5						c.(922-924)CGGfs		serine/threonine-protein kinase PRP4K							71.0	79.0	76.0					6																	4032674		2201	4299	6500	SO:0001589	frameshift_variant	8899					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:4032674delG	U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.923delG	6.37:g.4032674delG	ENSP00000337194:p.Arg308fs					PRPF4B_uc011dhv.1_RNA	p.R308fs	NM_003913	NP_003904	Q13523	PRP4B_HUMAN			2	1014	+	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	308			Arg/Lys-rich (basic).		A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Frame_Shift_Del	DEL	ENST00000337659.6	37	c.923delG	CCDS4488.1																																																																																				0.368	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2			17	52	NA	NA	NA	NA	NA	17	52	---	---	---	---
PRRC2B	84726	broad.mit.edu	37	9	134353948	134353948	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr9:134353948delC	ENST00000357304.4	+	17	4755	c.4700delC	c.(4699-4701)accfs	p.T1567fs	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Frame_Shift_Del_p.T873fs|PRRC2B_ENST00000405995.1_Frame_Shift_Del_p.T873fs	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1567							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GAAGTCCTGACCAAGAAGCAG	0.617											OREG0019562	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc004can.3		NA																	0					0						c.(4699-4701)ACCfs		HLA-B associated transcript 2-like							84.0	91.0	89.0					9																	134353948		1888	4116	6004	SO:0001589	frameshift_variant	84726						protein binding	g.chr9:134353948delC	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.4700delC	9.37:g.134353948delC	ENSP00000349856:p.Thr1567fs		OREG0019562	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1610	BAT2L1_uc004cao.3_Frame_Shift_Del_p.T925fs	p.T1567fs	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN			17	4755	+			1567			Potential.		O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Frame_Shift_Del	DEL	ENST00000357304.4	37	c.4700delC	CCDS48044.1																																																																																				0.617	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				37	89	NA	NA	NA	NA	NA	37	89	---	---	---	---
