#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MAGEA5	4104	broad.mit.edu	37	X	151283859	151283859	+	RNA	SNP	C	C	A			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chrX:151283859C>A	ENST00000509345.2	-	0	477																											GCAGGCACCTCCCCCAGGGTG	0.622																																						ENST00000509345.2																			0																				51.0	51.0	51.0					X																	151283859		2203	4299	6502			4104							g.chrX:151283859C>A																													X.37:g.151283859C>A														0	477	-									RNA	SNP	ENST00000509345.2	37																																																																																						0.622	RP11-1007I13.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000445981.1			17	47	1	0	3.41278e-10	1	3.96197e-10	17	47				
CAMTA1	23261	broad.mit.edu	37	1	7724554	7724554	+	Silent	SNP	G	G	A	rs374599206		TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr1:7724554G>A	ENST00000303635.7	+	9	2154	c.1947G>A	c.(1945-1947)acG>acA	p.T649T	CAMTA1_ENST00000439411.2_Silent_p.T649T	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	649					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CGGTGAAAACGGAGGCCTCGT	0.627			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(1945-1947)acG>acA		calmodulin binding transcription activator 1		G		0,4406		0,0,2203	110.0	114.0	112.0		1947	-2.1	1.0	1		112	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CAMTA1	NM_015215.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		649/1674	7724554	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7724554G>A	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.1947G>A	1.37:g.7724554G>A						CAMTA1_ENST00000439411.2_Silent_p.T649T	p.T649T	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	2154	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	649					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	c.1947G>A	CCDS30576.1																																																																																				0.627	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		56	304	0	0	0	1	0	56	304				
TRIP12	9320	broad.mit.edu	37	2	230632383	230632383	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr2:230632383C>G	ENST00000283943.5	-	41	6044	c.5866G>C	c.(5866-5868)Gta>Cta	p.V1956L	TRIP12_ENST00000389045.3_Missense_Mutation_p.V1686L|TRIP12_ENST00000389044.4_Missense_Mutation_p.V2004L	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1956	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CAAGTCATTACAGAGGGCAAG	0.413																																						ENST00000283943.5																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(5866-5868)Gta>Cta		thyroid hormone receptor interactor 12							152.0	147.0	149.0					2																	230632383		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230632383C>G	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.5866G>C	2.37:g.230632383C>G	ENSP00000283943:p.Val1956Leu					TRIP12_ENST00000389044.4_Missense_Mutation_p.V2004L|TRIP12_ENST00000389045.3_Missense_Mutation_p.V1686L	p.V1956L	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	41	6044	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1956			HECT.		D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.5866G>C	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932392	0.73442	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.48522	0.81;0.81;0.81	5.47	4.59	0.56863	HECT (4);	0.000000	0.85682	D	0.000000	T	0.56761	0.2007	M	0.86343	2.81	0.80722	D	1	B;B;B	0.18741	0.03;0.03;0.03	B;B;B	0.25987	0.065;0.065;0.065	T	0.63065	-0.6720	10	0.87932	D	0	.	14.6486	0.68780	0.0:0.9289:0.0:0.0711	.	1686;2004;1956	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	L	1956;1686;2004	ENSP00000283943:V1956L;ENSP00000373697:V1686L;ENSP00000373696:V2004L	ENSP00000283943:V1956L	V	-	1	0	TRIP12	230340627	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	5.745000	0.68672	2.582000	0.87167	0.455000	0.32223	GTA		0.413	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		26	76	0	0	0	1	0	26	76				
PARVB	29780	broad.mit.edu	37	22	44527492	44527492	+	Missense_Mutation	SNP	C	C	T	rs144931273		TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr22:44527492C>T	ENST00000338758.7	+	5	565	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W	PARVB_ENST00000404989.1_Missense_Mutation_p.R131W|PARVB_ENST00000406477.3_Missense_Mutation_p.R201W	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	168	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				CTGGGCGCTCCGGTGGAGCGT	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		18273	0.001		0.0	False		,,,				2504	0.0					ENST00000338758.6																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25						c.(502-504)Cgg>Tgg		parvin, beta		C	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	52.0	43.0	46.0		601,502	4.1	0.8	22	dbSNP_134	46	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	PARVB	NM_001003828.2,NM_013327.4	101,101	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	201/398,168/365	44527492	2,13004	2203	4300	6503	SO:0001583	missense	29780				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding	g.chr22:44527492C>T	AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"""Parvins"""	14653	protein-coding gene	gene with protein product	"""affixin"""	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000338758.7:c.502C>T	22.37:g.44527492C>T	ENSP00000342492:p.Arg168Trp					PARVB_ENST00000406477.3_Missense_Mutation_p.R201W|PARVB_ENST00000404989.1_Missense_Mutation_p.R131W	p.R168W	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN			5	565	+		Ovarian(80;0.0246)|all_neural(38;0.0423)	168			CH 1.		B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Missense_Mutation	SNP	ENST00000338758.7	37	c.502C>T	CCDS14056.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	17.79	3.476753	0.63849	2.27E-4	1.16E-4	ENSG00000188677	ENST00000406477;ENST00000338758;ENST00000444029;ENST00000404989	T;T;T;T	0.60548	0.18;0.18;0.18;0.18	5.17	4.06	0.47325	Calponin homology domain (5);	0.322392	0.32357	N	0.006202	T	0.67040	0.2851	L	0.50333	1.59	0.20638	N	0.999877	D;D;D;D	0.76494	0.999;0.977;0.997;0.999	P;P;P;P	0.61275	0.72;0.766;0.846;0.886	T	0.60752	-0.7201	10	0.87932	D	0	-5.254	14.325	0.66512	0.1875:0.8125:0.0:0.0	.	168;131;168;201	A6NG58;B0QYM8;Q9HBI1;Q9HBI1-2	.;.;PARVB_HUMAN;.	W	201;168;166;131	ENSP00000384515:R201W;ENSP00000342492:R168W;ENSP00000393758:R166W;ENSP00000384353:R131W	ENSP00000342492:R168W	R	+	1	2	PARVB	42858825	0.904000	0.30761	0.817000	0.32601	0.679000	0.39708	1.760000	0.38430	2.407000	0.81776	0.655000	0.94253	CGG		0.602	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319518.2	NM_001003828		5	31	0	0	0	1	0	5	31				
GRID2	2895	broad.mit.edu	37	4	94376929	94376929	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr4:94376929G>T	ENST00000282020.4	+	11	1920	c.1662G>T	c.(1660-1662)aaG>aaT	p.K554N	GRID2_ENST00000510992.1_Missense_Mutation_p.K459N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	554					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		GGGCTGAAAAGACAGTGGATA	0.473																																						ENST00000282020.4																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1660-1662)aaG>aaT		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						222.0	192.0	202.0					4																	94376929		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94376929G>T	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1662G>T	4.37:g.94376929G>T	ENSP00000282020:p.Lys554Asn					GRID2_ENST00000510992.1_Missense_Mutation_p.K459N	p.K554N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	11	1920	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	554					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.1662G>T	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.585170	0.46110	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.15256	2.49;2.44	5.97	3.3	0.37823	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.046970	0.85682	D	0.000000	T	0.11750	0.0286	N	0.25789	0.76	0.47441	D	0.999423	B;P	0.37914	0.322;0.611	B;B	0.37198	0.19;0.243	T	0.09997	-1.0649	10	0.45353	T	0.12	.	8.7487	0.34602	0.2885:0.0:0.7115:0.0	.	459;554	E9PH24;O43424	.;GRID2_HUMAN	N	554;459	ENSP00000282020:K554N;ENSP00000421257:K459N	ENSP00000282020:K554N	K	+	3	2	GRID2	94595952	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	1.332000	0.33805	0.410000	0.25675	0.655000	0.94253	AAG		0.473	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			7	102	1	0	0.000157383	1	0.000167323	7	102				
MARC1	64757	broad.mit.edu	37	1	220986672	220986672	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr1:220986672G>C	ENST00000366910.5	+	7	1112	c.926G>C	c.(925-927)gGa>gCa	p.G309A	MARC1_ENST00000496110.1_3'UTR	NM_022746.3	NP_073583.3	Q5VT66	MARC1_HUMAN	mitochondrial amidoxime reducing component 1	309	MOSC. {ECO:0000255|PROSITE- ProRule:PRU00670}.				detoxification of nitrogen compound (GO:0051410)|nitrate metabolic process (GO:0042126)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|nitrate reductase activity (GO:0008940)|pyridoxal phosphate binding (GO:0030170)										AAGTTATATGGAAAATCACCA	0.488																																						ENST00000366910.5																			0											c.(925-927)gGa>gCa		mitochondrial amidoxime reducing component 1							209.0	200.0	203.0					1																	220986672		2203	4300	6503	SO:0001583	missense	64757						molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding	g.chr1:220986672G>C	AK026043	CCDS1526.1	1q41	2011-11-02	2011-11-02	2011-11-02	ENSG00000186205	ENSG00000186205			26189	protein-coding gene	gene with protein product		614126	"""MOCO sulphurase C-terminal domain containing 1"""	MOSC1		11886751	Standard	NM_022746		Approved	FLJ22390	uc001hms.3	Q5VT66	OTTHUMG00000037353	ENST00000366910.5:c.926G>C	1.37:g.220986672G>C	ENSP00000355877:p.Gly309Ala					MARC1_ENST00000496110.1_3'UTR	p.G309A	NM_022746.3	NP_073583.3	Q5VT66	MOSC1_HUMAN			7	1112	+			309			MOSC.		A8K447|B2D078|Q5VVS9|Q5VVT0|Q5VVT1|Q8N9P5|Q96FN8|Q9H6C7	Missense_Mutation	SNP	ENST00000366910.5	37	c.926G>C	CCDS1526.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.38|17.38	3.376183|3.376183	0.61735|0.61735	.|.	.|.	ENSG00000186205|ENSG00000186205	ENST00000366910|ENST00000407981	T|.	0.19806|.	2.12|.	5.54|5.54	5.54|5.54	0.83059|0.83059	Pyruvate kinase-like, insert domain (1);Molybdenum cofactor sulfurase, C-terminal (2);|.	0.473347|.	0.20048|.	N|.	0.100380|.	T|T	0.61800|0.61800	0.2376|0.2376	M|M	0.84082|0.84082	2.675|2.675	0.21290|0.21290	N|N	0.999731|0.999731	P;P|.	0.50528|.	0.936;0.644|.	P;P|.	0.49922|.	0.492;0.626|.	T|T	0.60182|0.60182	-0.7313|-0.7313	10|5	0.36615|.	T|.	0.2|.	-10.256|-10.256	9.3127|9.3127	0.37915|0.37915	0.1264:0.0:0.8736:0.0|0.1264:0.0:0.8736:0.0	.|.	326;309|.	Q5VT66-2;Q5VT66|.	.;MOSC1_HUMAN|.	A|C	309|234	ENSP00000355877:G309A|.	ENSP00000355877:G309A|.	G|W	+|+	2|3	0|0	MOSC1|MOSC1	219053295|219053295	1.000000|1.000000	0.71417|0.71417	0.214000|0.214000	0.23707|0.23707	0.992000|0.992000	0.81027|0.81027	4.787000|4.787000	0.62432|0.62432	2.779000|2.779000	0.95612|0.95612	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.488	MARC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090904.1	NM_022746		35	178	0	0	0	1	0	35	178				
MKI67	4288	broad.mit.edu	37	10	129903554	129903554	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr10:129903554G>C	ENST00000368654.3	-	13	6925	c.6550C>G	c.(6550-6552)Cct>Gct	p.P2184A	MKI67_ENST00000368653.3_Missense_Mutation_p.P1824A	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2184	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTCCCTTAGGAGTTCTTGGC	0.488																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(6550-6552)Cct>Gct		marker of proliferation Ki-67							154.0	148.0	150.0					10																	129903554		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129903554G>C	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6550C>G	10.37:g.129903554G>C	ENSP00000357643:p.Pro2184Ala					MKI67_ENST00000368653.3_Missense_Mutation_p.P1824A	p.P2184A	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	6925	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2184			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.6550C>G	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.079467	0.36662	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02606	4.23;4.23	4.79	1.76	0.24704	.	2.774820	0.01291	N	0.010023	T	0.12220	0.0297	M	0.72894	2.215	0.09310	N	1	P;B;D	0.67145	0.873;0.323;0.996	P;B;P	0.61070	0.619;0.122;0.883	T	0.26916	-1.0089	10	0.25751	T	0.34	.	8.9778	0.35946	0.077:0.2788:0.6442:0.0	.	2183;1824;2184	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	A	2184;1824;2183	ENSP00000357643:P2184A;ENSP00000357642:P1824A	ENSP00000357642:P1824A	P	-	1	0	MKI67	129793544	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.491000	0.22419	0.147000	0.19030	-0.305000	0.09177	CCT		0.488	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		40	181	0	0	0	1	0	40	181				
HIST1H2BK	85236	broad.mit.edu	37	6	27114533	27114533	+	Silent	SNP	C	C	A	rs566494838		TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr6:27114533C>A	ENST00000356950.1	-	1	44	c.45G>T	c.(43-45)tcG>tcT	p.S15S	HIST1H2AH_ENST00000377459.1_5'Flank|HIST1H2BK_ENST00000396891.4_Silent_p.S15S|MIR3143_ENST00000584253.1_RNA			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	15					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CGGCTTTCTTCGAGCCCTTCT	0.577																																						ENST00000396891.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(43-45)tcG>tcT		histone cluster 1, H2bk							113.0	100.0	104.0					6																	27114533		2203	4300	6503	SO:0001819	synonymous_variant	85236				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27114533C>A	AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"""Histones / Replication-dependent"""	13954	protein-coding gene	gene with protein product		615045	"""H2B histone family, member T"", ""histone 1, H2bk"""	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.45G>T	6.37:g.27114533C>A						HIST1H2BK_ENST00000356950.1_Silent_p.S15S	p.S15S	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN			1	86	-			15					A8K7P7|Q2VPI7	Silent	SNP	ENST00000356950.1	37	c.45G>T	CCDS4621.1																																																																																				0.577	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593		33	179	1	0	1.08312e-15	1	1.27204e-15	33	179				
WDR13	64743	broad.mit.edu	37	X	48457207	48457207	+	Silent	SNP	A	A	C			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chrX:48457207A>C	ENST00000218056.5	+	2	649	c.144A>C	c.(142-144)ccA>ccC	p.P48P	WDR13_ENST00000492715.1_3'UTR|WDR13_ENST00000376729.5_Silent_p.P48P	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	48						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						GGCACCCCCCAGCGCTGCGTC	0.662																																						ENST00000218056.5																			0				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						c.(142-144)ccA>ccC		WD repeat domain 13							19.0	14.0	16.0					X																	48457207		2200	4296	6496	SO:0001819	synonymous_variant	64743					cytoplasm|nucleus		g.chrX:48457207A>C	AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"""WD repeat domain containing"""	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.144A>C	X.37:g.48457207A>C						WDR13_ENST00000492715.1_3'UTR	p.P48P	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353.2	Q9H1Z4	WDR13_HUMAN			2	649	+			48					Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Silent	SNP	ENST00000218056.5	37	c.144A>C	CCDS14302.1																																																																																				0.662	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060743.2			4	13	0	0	0	1	0	4	13				
DEPTOR	64798	broad.mit.edu	37	8	121015325	121015325	+	Silent	SNP	C	C	T	rs574142142	byFrequency	TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr8:121015325C>T	ENST00000286234.5	+	6	1030	c.900C>T	c.(898-900)ccC>ccT	p.P300P	DEPTOR_ENST00000523492.1_Silent_p.P199P|DEPTOR_ENST00000518057.1_3'UTR	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	300					intracellular signal transduction (GO:0035556)|negative regulation of cell size (GO:0045792)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of TOR signaling (GO:0032007)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)	intracellular (GO:0005622)				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						gcagcagcCCCCCTGTGCTCT	0.612																																						ENST00000286234.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						c.(898-900)ccC>ccT		DEP domain containing MTOR-interacting protein							39.0	33.0	35.0					8																	121015325		2203	4300	6503	SO:0001819	synonymous_variant	64798				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding	g.chr8:121015325C>T		CCDS6331.1, CCDS64960.1	8q24.12	2011-12-13	2010-12-08	2010-12-08	ENSG00000155792	ENSG00000155792			22953	protein-coding gene	gene with protein product		612974	"""DEP domain containing 6"""	DEPDC6		19446321	Standard	NM_022783		Approved	DEP.6, FLJ12428	uc003yow.4	Q8TB45	OTTHUMG00000165052	ENST00000286234.5:c.900C>T	8.37:g.121015325C>T						DEPTOR_ENST00000518057.1_3'UTR|DEPTOR_ENST00000523492.1_Silent_p.P199P	p.P300P	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN			6	1030	+			300					B2RCL9|B4DN97|E7EV87|Q96EQ1|Q9H0R7|Q9H894|Q9HA07	Silent	SNP	ENST00000286234.5	37	c.900C>T	CCDS6331.1																																																																																				0.612	DEPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381601.1	NM_022783		4	76	0	0	0	1	0	4	76				
ZNF135	7694	broad.mit.edu	37	19	58578599	58578599	+	Silent	SNP	A	A	G			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr19:58578599A>G	ENST00000313434.5	+	5	848	c.747A>G	c.(745-747)aaA>aaG	p.K249K	ZNF135_ENST00000511556.1_Silent_p.K261K|ZNF135_ENST00000359978.6_Silent_p.K261K|ZNF135_ENST00000506786.1_Silent_p.K207K|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000439855.2_Silent_p.K249K|ZNF135_ENST00000401053.4_Silent_p.K273K	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	249					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AATGCTTAAAAGGCTTCCGGA	0.498																																						ENST00000506786.1																			0				breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41						c.(619-621)aaA>aaG		zinc finger protein 135							130.0	124.0	126.0					19																	58578599		2203	4300	6503	SO:0001819	synonymous_variant	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58578599A>G	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.747A>G	19.37:g.58578599A>G						ZNF135_ENST00000313434.5_Silent_p.K249K|ZNF135_ENST00000439855.2_Silent_p.K249K|ZNF135_ENST00000401053.4_Silent_p.K273K|ZNF135_ENST00000359978.6_Silent_p.K261K|ZNF135_ENST00000511556.1_Silent_p.K261K	p.K207K			B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	5	1175	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	261					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Silent	SNP	ENST00000313434.5	37	c.621A>G		.	.	.	.	.	.	.	.	.	.	A	0.081	-1.184170	0.01620	.	.	ENSG00000176293	ENST00000391699	.	.	.	3.52	2.5	0.30297	.	.	.	.	.	T	0.59555	0.2202	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58880	-0.7558	5	0.87932	D	0	.	4.644	0.12563	0.699:0.1938:0.1072:0.0	.	.	.	.	R	267	.	ENSP00000375580:K267R	K	+	2	0	ZNF135	63270411	0.002000	0.14202	0.188000	0.23233	0.004000	0.04260	0.139000	0.16036	0.556000	0.29098	-0.371000	0.07208	AAG		0.498	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		4	221	0	0	0	1	0	4	221				
MUC4	4585	broad.mit.edu	37	3	195505842	195505842	+	Silent	SNP	T	T	G			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr3:195505842T>G	ENST00000463781.3	-	2	13068	c.12609A>C	c.(12607-12609)acA>acC	p.T4203T	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.T4203T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGGCGTGACCTGTGGATGCTG	0.597																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12607-12609)acA>acC		mucin 4, cell surface associated							16.0	14.0	15.0					3																	195505842		691	1577	2268	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505842T>G	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12609A>C	3.37:g.195505842T>G						MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.T4203T	p.T4203T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13068	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	966					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.12609A>C	CCDS54700.1																																																																																				0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	8	0	0	0	1	0	3	8				
ANKS1A	23294	broad.mit.edu	37	6	35053632	35053632	+	Silent	SNP	G	G	A	rs367977706		TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr6:35053632G>A	ENST00000360359.3	+	22	3360	c.3222G>A	c.(3220-3222)acG>acA	p.T1074T	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	1074	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CCAGGGCGACGGGCGCCTCTG	0.607																																						ENST00000360359.3																			0				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(3220-3222)acG>acA		ankyrin repeat and sterile alpha motif domain containing 1A		G		1,4405	2.1+/-5.4	0,1,2202	51.0	49.0	50.0		3222	2.7	0.6	6		50	0,8600		0,0,4300	no	coding-synonymous	ANKS1A	NM_015245.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1074/1135	35053632	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23294					cytoplasm	protein binding	g.chr6:35053632G>A	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.3222G>A	6.37:g.35053632G>A						ANKS1A_ENST00000535627.1_Intron	p.T1074T	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN			22	3360	+			1074			PID.		A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Silent	SNP	ENST00000360359.3	37	c.3222G>A	CCDS4798.1																																																																																				0.607	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		17	47	0	0	0	1	0	17	47				
CARD10	29775	broad.mit.edu	37	22	37891880	37891880	+	Silent	SNP	C	C	T			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr22:37891880C>T	ENST00000403299.1	-	15	2406	c.2190G>A	c.(2188-2190)gaG>gaA	p.E730E	CARD10_ENST00000251973.5_Silent_p.E730E|CARD10_ENST00000406271.3_Silent_p.E444E			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	730					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GTCGAAGGATCTCTTGGGCTT	0.627																																						ENST00000403299.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(2188-2190)gaG>gaA		caspase recruitment domain family, member 10							77.0	65.0	69.0					22																	37891880		2203	4300	6503	SO:0001819	synonymous_variant	29775				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity	g.chr22:37891880C>T	AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.2190G>A	22.37:g.37891880C>T						CARD10_ENST00000251973.5_Silent_p.E730E|CARD10_ENST00000406271.3_Silent_p.E444E	p.E730E			Q9BWT7	CAR10_HUMAN			15	2406	-	Melanoma(58;0.0574)		730					Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Silent	SNP	ENST00000403299.1	37	c.2190G>A	CCDS13948.1																																																																																				0.627	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550		6	72	0	0	0	1	0	6	72				
ANKIB1	54467	broad.mit.edu	37	7	92027950	92027950	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr7:92027950C>T	ENST00000265742.3	+	20	3333	c.2957C>T	c.(2956-2958)gCc>gTc	p.A986V		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	986							zinc ion binding (GO:0008270)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAGAGTATTGCCCTGATTCCT	0.498																																						ENST00000265742.3																			0				cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41						c.(2956-2958)gCc>gTc		ankyrin repeat and IBR domain containing 1							102.0	99.0	100.0					7																	92027950		1980	4167	6147	SO:0001583	missense	54467						protein binding|zinc ion binding	g.chr7:92027950C>T	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.2957C>T	7.37:g.92027950C>T	ENSP00000265742:p.Ala986Val						p.A986V	NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		20	3333	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		986					Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	c.2957C>T	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410106	0.62399	.	.	ENSG00000001629	ENST00000265742	T	0.14266	2.52	5.35	4.47	0.54385	.	0.165804	0.56097	N	0.000036	T	0.12305	0.0299	L	0.29908	0.895	0.54753	D	0.999985	B;B	0.22414	0.069;0.0	B;B	0.19391	0.025;0.001	T	0.05402	-1.0887	10	0.87932	D	0	.	14.479	0.67567	0.0:0.9296:0.0:0.0704	.	338;986	Q4VBX8;Q9P2G1	.;AKIB1_HUMAN	V	986	ENSP00000265742:A986V	ENSP00000265742:A986V	A	+	2	0	ANKIB1	91865886	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.581000	0.67471	1.627000	0.50400	0.655000	0.94253	GCC		0.498	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			22	110	0	0	0	1	0	22	110				
BAIAP3	8938	broad.mit.edu	37	16	1388958	1388958	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr16:1388958G>T	ENST00000324385.5	+	3	450	c.292G>T	c.(292-294)Ggg>Tgg	p.G98W	BAIAP3_ENST00000568887.1_Missense_Mutation_p.G63W|BAIAP3_ENST00000421665.2_Missense_Mutation_p.G63W|BAIAP3_ENST00000397489.1_Missense_Mutation_p.G63W|BAIAP3_ENST00000426824.3_Missense_Mutation_p.G63W|BAIAP3_ENST00000397488.2_Missense_Mutation_p.G63W|BAIAP3_ENST00000562208.1_Missense_Mutation_p.G63W	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	98					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GCTGAAGAAGGGGGAAGGCAG	0.657																																						ENST00000324385.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(292-294)Ggg>Tgg		BAI1-associated protein 3							92.0	97.0	95.0					16																	1388958		2199	4300	6499	SO:0001583	missense	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1388958G>T	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.292G>T	16.37:g.1388958G>T	ENSP00000324510:p.Gly98Trp					BAIAP3_ENST00000568887.1_Missense_Mutation_p.G63W|BAIAP3_ENST00000397489.1_Missense_Mutation_p.G63W|BAIAP3_ENST00000421665.2_Missense_Mutation_p.G63W|BAIAP3_ENST00000426824.3_Missense_Mutation_p.G63W|BAIAP3_ENST00000397488.2_Missense_Mutation_p.G63W|BAIAP3_ENST00000562208.1_Missense_Mutation_p.G63W	p.G98W	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN			3	450	+		Hepatocellular(780;0.0893)	98					A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	ENST00000324385.5	37	c.292G>T	CCDS10434.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.251892	0.39797	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.72051	-0.55;-0.62;-0.57;-0.62;-0.56	4.19	2.06	0.26882	.	0.554143	0.17430	N	0.174505	T	0.69495	0.3117	L	0.54323	1.7	0.26683	N	0.971491	D;D;D;D;D	0.65815	0.979;0.995;0.979;0.979;0.979	B;P;P;P;P	0.53006	0.41;0.701;0.604;0.715;0.533	T	0.61133	-0.7124	10	0.72032	D	0.01	-21.2906	5.1902	0.15205	0.272:0.0:0.728:0.0	.	63;98;63;98;63	E7EUB9;B4DGA2;B4DIK3;O94812;A2A2B2	.;.;.;BAIP3_HUMAN;.	W	63;63;98;63;63	ENSP00000407242:G63W;ENSP00000380625:G63W;ENSP00000324510:G98W;ENSP00000380626:G63W;ENSP00000409533:G63W	ENSP00000324510:G98W	G	+	1	0	BAIAP3	1328959	1.000000	0.71417	0.681000	0.30009	0.982000	0.71751	1.625000	0.37029	0.970000	0.38263	0.484000	0.47621	GGG		0.657	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			22	171	1	0	1.22574e-08	1	1.39101e-08	22	171				
INO80D	54891	broad.mit.edu	37	2	206882489	206882489	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr2:206882489T>C	ENST00000403263.1	-	8	1861	c.1457A>G	c.(1456-1458)aAg>aGg	p.K486R		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	486					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						ATCTGCAAACTTGGCTGTGCA	0.398																																						ENST00000403263.1																			0				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						c.(1456-1458)aAg>aGg		INO80 complex subunit D							111.0	113.0	112.0					2																	206882489		1887	4135	6022	SO:0001583	missense	54891				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:206882489T>C		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.1457A>G	2.37:g.206882489T>C	ENSP00000384198:p.Lys486Arg						p.K486R	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN			8	1861	-			486					B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	c.1457A>G	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	T	11.71	1.720772	0.30503	.	.	ENSG00000114933	ENST00000403263;ENST00000233270;ENST00000424117	T;T	0.41758	1.51;0.99	5.3	-1.47	0.08772	.	0.299857	0.37393	N	0.002110	T	0.22003	0.0530	N	0.17345	0.48	0.33486	D	0.588069	B	0.11235	0.004	B	0.12156	0.007	T	0.17806	-1.0357	10	0.23302	T	0.38	.	10.0516	0.42219	0.0:0.3393:0.0:0.6607	.	486	Q53TQ3-2	.	R	486;486;381	ENSP00000384198:K486R;ENSP00000402369:K381R	ENSP00000233270:K486R	K	-	2	0	INO80D	206590734	1.000000	0.71417	0.989000	0.46669	0.940000	0.58332	1.745000	0.38278	-0.514000	0.06488	-0.912000	0.02778	AAG		0.398	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759		8	27	0	0	0	1	0	8	27				
PSG8	440533	broad.mit.edu	37	19	43268418	43268418	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr19:43268418A>T	ENST00000306511.4	-	2	177	c.80T>A	c.(79-81)tTc>tAc	p.F27Y	PSG8_ENST00000401467.2_Missense_Mutation_p.F27Y|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000404209.4_Missense_Mutation_p.F27Y	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	27						extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TGGGTTCCAGAAGTTTAAAAG	0.488																																						ENST00000404209.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(79-81)tTc>tAc		pregnancy specific beta-1-glycoprotein 8							135.0	137.0	136.0					19																	43268418		2203	4300	6503	SO:0001583	missense	440533					extracellular region		g.chr19:43268418A>T	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.80T>A	19.37:g.43268418A>T	ENSP00000305005:p.Phe27Tyr					PSG8_ENST00000406636.3_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.F27Y|PSG8_ENST00000306511.4_Missense_Mutation_p.F27Y	p.F27Y	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN			2	176	-		Prostate(69;0.00899)	27					A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.80T>A	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	a	12.05	1.822432	0.32237	.	.	ENSG00000124467	ENST00000404209;ENST00000401467;ENST00000407488;ENST00000306511	T;T;T	0.19250	2.16;3.28;2.17	1.35	-1.38	0.09027	.	.	.	.	.	T	0.22666	0.0547	L	0.54863	1.705	0.09310	N	1	B;P;D;B;B	0.61080	0.103;0.494;0.989;0.099;0.06	B;B;P;B;B	0.51615	0.067;0.178;0.675;0.13;0.061	T	0.11421	-1.0588	9	0.49607	T	0.09	.	1.5233	0.02520	0.4219:0.0:0.2419:0.3362	.	27;27;27;27;27	B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;PSG8_HUMAN;.;.;.	Y	27	ENSP00000385869:F27Y;ENSP00000386090:F27Y;ENSP00000305005:F27Y	ENSP00000305005:F27Y	F	-	2	0	PSG8	47960258	0.063000	0.20901	0.351000	0.25721	0.068000	0.16541	-0.640000	0.05440	-0.488000	0.06726	0.155000	0.16302	TTC		0.488	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			34	163	0	0	0	1	0	34	163				
CSPG4	1464	broad.mit.edu	37	15	75981297	75981297	+	Silent	SNP	G	G	A			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr15:75981297G>A	ENST00000308508.5	-	3	2201	c.2109C>T	c.(2107-2109)gtC>gtT	p.V703V		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	703	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GGGCCCCAGTGACGCGGAACA	0.667																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(2107-2109)gtC>gtT		chondroitin sulfate proteoglycan 4							63.0	63.0	63.0					15																	75981297		2197	4291	6488	SO:0001819	synonymous_variant	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75981297G>A	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.2109C>T	15.37:g.75981297G>A							p.V703V	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	2201	-			703			Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.2109C>T	CCDS10284.1																																																																																				0.667	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		5	178	0	0	0	1	0	5	178				
ISM1	140862	broad.mit.edu	37	20	13260439	13260439	+	Silent	SNP	G	G	A			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr20:13260439G>A	ENST00000262487.4	+	3	543	c.537G>A	c.(535-537)aaG>aaA	p.K179K	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	179						extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						AGGACTACAAGTACGACAGTA	0.612																																						ENST00000262487.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						c.(535-537)aaG>aaA		isthmin 1, angiogenesis inhibitor							66.0	75.0	72.0					20																	13260439		1920	4119	6039	SO:0001819	synonymous_variant	140862					extracellular region		g.chr20:13260439G>A	AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"""chromosome 20 open reading frame 82"", ""isthmin 1 homolog (zebrafish)"""	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.537G>A	20.37:g.13260439G>A						TASP1_ENST00000539805.1_Intron	p.K179K	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN			3	543	+			179					Q8WVH9	Silent	SNP	ENST00000262487.4	37	c.537G>A	CCDS46579.1																																																																																				0.612	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2			23	90	0	0	0	1	0	23	90				
PCDHA9	9752	broad.mit.edu	37	5	140229647	140229647	+	Silent	SNP	T	T	C			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr5:140229647T>C	ENST00000532602.1	+	1	2600	c.1567T>C	c.(1567-1569)Ttg>Ctg	p.L523L	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Silent_p.L523L|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	523	Cadherin 5. {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)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGCAGCCGTTGGACCACGA	0.682																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(1567-1569)Ttg>Ctg									59.0	68.0	65.0					5																	140229647		2181	4256	6437	SO:0001819	synonymous_variant	9752							g.chr5:140229647T>C	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1567T>C	5.37:g.140229647T>C						PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Silent_p.L523L|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron	p.L523L	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2291	+								O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.1567T>C	CCDS54920.1																																																																																				0.682	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		6	350	0	0	0	1	0	6	350				
B3GNT3	10331	broad.mit.edu	37	19	17918691	17918691	+	Silent	SNP	C	C	T			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr19:17918691C>T	ENST00000318683.6	+	2	222	c.75C>T	c.(73-75)ttC>ttT	p.F25F	B3GNT3_ENST00000595387.1_Silent_p.F25F	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	25					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						TCCTCCTCTTCAGTCTGCTAG	0.687																																						ENST00000318683.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						c.(73-75)ttC>ttT		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3							33.0	33.0	33.0					19																	17918691		2203	4298	6501	SO:0001819	synonymous_variant	10331				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	g.chr19:17918691C>T	AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"""Beta 3-glycosyltransferases"""	13528	protein-coding gene	gene with protein product	"""putative type II membrane protein"", ""beta-1,3-N-acetylglucosaminyltransferase bGnT-3"", ""transmembrane protein 3"""	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.75C>T	19.37:g.17918691C>T						B3GNT3_ENST00000595387.1_Silent_p.F25F	p.F25F	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN			2	222	+			25					B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Silent	SNP	ENST00000318683.6	37	c.75C>T	CCDS12364.1																																																																																				0.687	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	NM_014256		12	62	0	0	0	1	0	12	62				
SCUBE3	222663	broad.mit.edu	37	6	35213155	35213155	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr6:35213155T>C	ENST00000274938.7	+	19	2552	c.2552T>C	c.(2551-2553)cTg>cCg	p.L851P	SCUBE3_ENST00000394681.1_Missense_Mutation_p.L867P	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						GAGATCTTCCTGCCATCTGAG	0.567																																						ENST00000274938.7																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						c.(2551-2553)cTg>cCg		signal peptide, CUB domain, EGF-like 3							104.0	95.0	98.0					6																	35213155		2203	4300	6503	SO:0001583	missense	222663				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	g.chr6:35213155T>C	AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.2552T>C	6.37:g.35213155T>C	ENSP00000274938:p.Leu851Pro					SCUBE3_ENST00000394681.1_Missense_Mutation_p.L867P	p.L851P	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN			19	2552	+			851			CUB.			Missense_Mutation	SNP	ENST00000274938.7	37	c.2552T>C	CCDS4800.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.586458	0.86851	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	T;T	0.25085	1.82;1.82	5.43	5.43	0.79202	CUB (5);	0.000000	0.64402	D	0.000001	T	0.50582	0.1624	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.62358	-0.6871	10	0.87932	D	0	.	15.4922	0.75615	0.0:0.0:0.0:1.0	.	867;851	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	P	867;851	ENSP00000378174:L867P;ENSP00000274938:L851P	ENSP00000274938:L851P	L	+	2	0	SCUBE3	35321133	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.065000	0.61736	0.528000	0.53228	CTG		0.567	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753		8	72	0	0	0	1	0	8	72				
LOC645166	645166	broad.mit.edu	37	1	148932911	148932911	+	lincRNA	SNP	G	G	A			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr1:148932911G>A	ENST00000539543.1	+	0	167					NR_027355.2																						CCAAGACTCCGTCCTGCAAGG	0.612																																						ENST00000539543.1																			0																																																			645166							g.chr1:148932911G>A																													1.37:g.148932911G>A								NR_027355.1						0	167	+									RNA	SNP	ENST00000539543.1	37																																																																																						0.612	RP11-14N7.2-201	KNOWN	basic	lincRNA	lincRNA				11	262	0	0	0	1	0	11	262				
CCDC171	203238	broad.mit.edu	37	9	15784679	15784679	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr9:15784679G>C	ENST00000380701.3	+	21	3582	c.3254G>C	c.(3253-3255)gGa>gCa	p.G1085A	CCDC171_ENST00000297641.3_Missense_Mutation_p.G1085A	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	1085																	CAAACTCTTGGAGAAGCTGTT	0.358																																						ENST00000380701.3																			0											c.(3253-3255)gGa>gCa		coiled-coil domain containing 171							66.0	61.0	63.0					9																	15784679		2203	4300	6503	SO:0001583	missense	203238							g.chr9:15784679G>C	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.3254G>C	9.37:g.15784679G>C	ENSP00000370077:p.Gly1085Ala					CCDC171_ENST00000297641.3_Missense_Mutation_p.G1085A	p.G1085A	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN			21	3582	+			1085					B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	c.3254G>C	CCDS6481.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.28|13.28	2.189597|2.189597	0.38707|0.38707	.|.	.|.	ENSG00000164989|ENSG00000164989	ENST00000449575;ENST00000432954|ENST00000297641;ENST00000380689;ENST00000380701	.|T;T	.|0.14266	.|2.52;2.52	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	.|0.225834	.|0.37053	.|N	.|0.002271	T|T	0.11922|0.11922	0.0290|0.0290	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|P;B;P	.|0.46512	.|0.879;0.307;0.738	.|P;B;B	.|0.45639	.|0.488;0.03;0.269	T|T	0.17899|0.17899	-1.0354|-1.0354	5|10	.|0.14656	.|T	.|0.56	-5.0302|-5.0302	14.3687|14.3687	0.66823|0.66823	0.0:0.148:0.852:0.0|0.0:0.148:0.852:0.0	.|.	.|1093;352;1085	.|B7ZM22;A6NK04;Q6TFL3	.|.;.;CI093_HUMAN	Q|A	325;139|1085;352;1085	.|ENSP00000297641:G1085A;ENSP00000370077:G1085A	.|ENSP00000297641:G1085A	E|G	+|+	1|2	0|0	C9orf93|C9orf93	15774679|15774679	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.226000|5.226000	0.65299|0.65299	2.500000|2.500000	0.84329|0.84329	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.358	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		12	49	0	0	0	1	0	12	49				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000564451.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																197331							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000567960.1_RNA								0	1866	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	107	0	0	0	1	0	4	107				
GFM1	85476	broad.mit.edu	37	3	158363534	158363534	+	Silent	SNP	C	C	T			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr3:158363534C>T	ENST00000486715.1	+	2	555	c.198C>T	c.(196-198)gtC>gtT	p.V66V	GFM1_ENST00000264263.5_Silent_p.V66V|GFM1_ENST00000478576.1_Silent_p.V66V	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CAGAACGAGTCCTTTACTACA	0.363																																						ENST00000486715.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22						c.(196-198)gtC>gtT		G elongation factor, mitochondrial 1							127.0	128.0	128.0					3																	158363534		2203	4300	6503	SO:0001819	synonymous_variant	85476				mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:158363534C>T	AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"""G translation elongation factor, mitochondrial"""			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.198C>T	3.37:g.158363534C>T						GFM1_ENST00000478576.1_Silent_p.V66V|GFM1_ENST00000264263.5_Silent_p.V66V	p.V66V	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		2	555	+			66						Silent	SNP	ENST00000486715.1	37	c.198C>T	CCDS33885.1																																																																																				0.363	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996		7	104	0	0	0	1	0	7	104				
YY1AP1	55249	broad.mit.edu	37	1	155630074	155630074	+	Nonsense_Mutation	SNP	T	T	A			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr1:155630074T>A	ENST00000295566.4	-	11	1788	c.1765A>T	c.(1765-1767)Aaa>Taa	p.K589*	YY1AP1_ENST00000404643.1_Nonsense_Mutation_p.K523*|YY1AP1_ENST00000535662.1_Nonsense_Mutation_p.K389*|YY1AP1_ENST00000368330.2_Nonsense_Mutation_p.K543*|YY1AP1_ENST00000347088.5_Nonsense_Mutation_p.K543*|YY1AP1_ENST00000368340.5_Nonsense_Mutation_p.K661*|YY1AP1_ENST00000359205.5_Nonsense_Mutation_p.K532*|YY1AP1_ENST00000355499.4_Nonsense_Mutation_p.K543*|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000407221.1_Nonsense_Mutation_p.K512*|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000368339.5_Nonsense_Mutation_p.K681*|YY1AP1_ENST00000311573.5_Nonsense_Mutation_p.K512*|YY1AP1_ENST00000361831.5_Nonsense_Mutation_p.K532*	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	589					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GGGGCAGGTTTGATACAGCGA	0.522																																						ENST00000368340.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31						c.(1981-1983)Aaa>Taa		YY1 associated protein 1							137.0	131.0	133.0					1																	155630074		2203	4300	6503	SO:0001587	stop_gained	55249							g.chr1:155630074T>A	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.1765A>T	1.37:g.155630074T>A	ENSP00000295566:p.Lys589*					YY1AP1_ENST00000535662.1_Nonsense_Mutation_p.K389*|YY1AP1_ENST00000407221.1_Nonsense_Mutation_p.K512*|YY1AP1_ENST00000295566.4_Nonsense_Mutation_p.K589*|YY1AP1_ENST00000368339.5_Nonsense_Mutation_p.K681*|YY1AP1_ENST00000368330.2_Nonsense_Mutation_p.K543*|YY1AP1_ENST00000347088.5_Nonsense_Mutation_p.K543*|YY1AP1_ENST00000361831.5_Nonsense_Mutation_p.K532*|YY1AP1_ENST00000355499.4_Nonsense_Mutation_p.K543*|YY1AP1_ENST00000311573.5_Nonsense_Mutation_p.K512*|YY1AP1_ENST00000359205.5_Nonsense_Mutation_p.K532*|YY1AP1_ENST00000404643.1_Nonsense_Mutation_p.K523*|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron	p.K661*	NM_001198904.1	NP_001185833.1					10	2089	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)							B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Nonsense_Mutation	SNP	ENST00000295566.4	37	c.1981A>T	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	t	33	5.281413	0.95489	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662	.	.	.	2.53	1.36	0.22044	.	0.251762	0.35739	N	0.003016	.	.	.	.	.	.	0.58432	D	0.999994	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.1077	0.25372	0.0:0.1182:0.0:0.8818	.	.	.	.	X	532;543;512;543;532;661;589;543;512;523;681;389	.	ENSP00000295566:K589X	K	-	1	0	YY1AP1	153896698	0.995000	0.38212	0.041000	0.18516	0.671000	0.39405	2.710000	0.47169	0.226000	0.20979	0.254000	0.18369	AAA		0.522	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		11	171	0	0	0	1	0	11	171				
BHLHE41	79365	broad.mit.edu	37	12	26276085	26276085	+	Silent	SNP	T	T	C			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr12:26276085T>C	ENST00000242728.4	-	5	710	c.363A>G	c.(361-363)aaA>aaG	p.K121K	RP11-283G6.3_ENST00000535914.1_RNA|RP11-283G6.3_ENST00000545819.1_RNA	NM_030762.2	NP_110389.1	Q9C0J9	BHE41_HUMAN	basic helix-loop-helix family, member e41	121					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|MRF binding (GO:0043426)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)	5						GAATGGGCGATTTCAGAGATC	0.527											OREG0021711	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000242728.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)	5						c.(361-363)aaA>aaG		basic helix-loop-helix family, member e41							24.0	25.0	25.0					12																	26276085		2203	4299	6502	SO:0001819	synonymous_variant	79365				cell differentiation|cell proliferation|organ morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:26276085T>C	AB044088	CCDS8706.1	12p12.1	2011-12-05	2009-01-12	2009-01-12	ENSG00000123095	ENSG00000123095		"""Basic helix-loop-helix proteins"""	16617	protein-coding gene	gene with protein product	"""differentially expressed in chondrocytes 2"", ""Enhancer-of-split and hairy-related protein 1"""	606200	"""basic helix-loop-helix domain containing, class B, 3"""	BHLHB3		11162494, 18557763	Standard	NM_030762		Approved	DEC2, SHARP-1, SHARP1, bHLHe41	uc001rhb.3	Q9C0J9	OTTHUMG00000169174	ENST00000242728.4:c.363A>G	12.37:g.26276085T>C			OREG0021711	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	785		p.K121K	NM_030762.2	NP_110389.1	Q9C0J9	BHE41_HUMAN			5	710	-			121					A2I2N8	Silent	SNP	ENST00000242728.4	37	c.363A>G	CCDS8706.1																																																																																				0.527	BHLHE41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402714.1	NM_030762		6	22	0	0	0	1	0	6	22				
MAGI1	9223	broad.mit.edu	37	3	65365202	65365202	+	Missense_Mutation	SNP	G	G	A	rs202069482		TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr3:65365202G>A	ENST00000497477.2	-	17	2728	c.2729C>T	c.(2728-2730)tCg>tTg	p.S910L	MAGI1_ENST00000330909.8_Missense_Mutation_p.S938L|MAGI1_ENST00000402939.2_Missense_Mutation_p.S910L|MAGI1_ENST00000483466.1_Missense_Mutation_p.S938L			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	938					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GGAGGCTGGCGAGGGCACCTC	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		16301	0.0		0.001	False		,,,				2504	0.0					ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(2812-2814)tCg>tTg		membrane associated guanylate kinase, WW and PDZ domain containing 1							107.0	113.0	111.0					3																	65365202		2203	4300	6503	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65365202G>A	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.2729C>T	3.37:g.65365202G>A	ENSP00000424369:p.Ser910Leu					MAGI1_ENST00000483466.1_Missense_Mutation_p.S938L|MAGI1_ENST00000497477.2_Missense_Mutation_p.S910L|MAGI1_ENST00000402939.2_Missense_Mutation_p.S910L	p.S938L	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	18	2812	-		Lung NSC(201;0.0016)	938					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000497477.2	37	c.2813C>T		1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	16.21|16.21	3.058365|3.058365	0.55325|0.55325	.|.	.|.	ENSG00000151276|ENSG00000151276	ENST00000460329|ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257	.|T;T;T;T;T;T	.|0.21932	.|2.52;2.13;2.13;2.13;1.98;2.13	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	.|0.259259	.|0.39909	.|N	.|0.001223	T|T	0.40196|0.40196	0.1107|0.1107	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	.|B;D;D;P;B	.|0.76494	.|0.01;0.999;0.991;0.933;0.046	.|B;P;P;P;B	.|0.62435	.|0.019;0.902;0.65;0.448;0.009	T|T	0.05566|0.05566	-1.0877|-1.0877	5|10	.|0.21540	.|T	.|0.41	-1.662|-1.662	18.7952|18.7952	0.91991|0.91991	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|938;910;938;910;938	.|A8K188;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.|.;.;.;.;.	C|L	819|910;938;834;813;938;910;696	.|ENSP00000385450:S910L;ENSP00000331157:S938L;ENSP00000418177:S813L;ENSP00000420323:S938L;ENSP00000424369:S910L;ENSP00000420796:S696L	.|ENSP00000331157:S938L	R|S	-|-	1|2	0|0	MAGI1|MAGI1	65340242|65340242	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.927000|0.927000	0.56198|0.56198	7.591000|7.591000	0.82666|0.82666	2.427000|2.427000	0.82271|0.82271	0.591000|0.591000	0.81541|0.81541	CGC|TCG		0.627	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		38	153	0	0	0	1	0	38	153				
PARP14	54625	broad.mit.edu	37	3	122423459	122423459	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr3:122423459G>A	ENST00000474629.2	+	8	3670	c.3404G>A	c.(3403-3405)gGa>gAa	p.G1135E		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1135	Macro 2. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		ATAGGAACAGGAAACTTGGGA	0.358																																						ENST00000474629.2																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(3403-3405)gGa>gAa		poly (ADP-ribose) polymerase family, member 14							75.0	68.0	70.0					3																	122423459		1837	4092	5929	SO:0001583	missense	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122423459G>A	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.3404G>A	3.37:g.122423459G>A	ENSP00000418194:p.Gly1135Glu						p.G1135E	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	8	3670	+			1135			Macro 2.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	c.3404G>A	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920202	0.92249	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000398157	T	0.58060	0.36	5.49	5.49	0.81192	Appr-1-p processing (3);	0.080171	0.52532	N	0.000069	T	0.80460	0.4627	M	0.94063	3.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84878	0.0829	10	0.87932	D	0	.	18.1171	0.89559	0.0:0.0:1.0:0.0	.	1135;1135	Q460N5-4;Q460N5	.;PAR14_HUMAN	E	1135;1054;131	ENSP00000418194:G1135E	ENSP00000381224:G131E	G	+	2	0	PARP14	123906149	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.074000	0.93998	2.865000	0.98341	0.655000	0.94253	GGA		0.358	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		4	15	0	0	0	1	0	4	15				
ENG	2022	broad.mit.edu	37	9	130605480	130605480	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr9:130605480C>T	ENST00000373203.4	-	2	512	c.112G>A	c.(112-114)Gag>Aag	p.E38K	ENG_ENST00000344849.3_Missense_Mutation_p.E38K|RNA5SP296_ENST00000410523.1_RNA	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	38	Required for interaction with EGL.				artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						TCGCCCCTCTCGGGGCCCACA	0.547									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																													ENST00000344849.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						c.(112-114)Gag>Aag		endoglin							100.0	102.0	102.0					9																	130605480		2203	4300	6503	SO:0001583	missense	2022	Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding	g.chr9:130605480C>T	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"""CD molecules"""	3349	protein-coding gene	gene with protein product		131195	"""Osler-Rendu-Weber syndrome 1"""	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.112G>A	9.37:g.130605480C>T	ENSP00000362299:p.Glu38Lys					ENG_ENST00000373203.4_Missense_Mutation_p.E38K	p.E38K			P17813	EGLN_HUMAN			2	392	-			38					Q14248|Q14926|Q5T9C0	Missense_Mutation	SNP	ENST00000373203.4	37	c.112G>A	CCDS48029.1	.	.	.	.	.	.	.	.	.	.	c	13.47	2.246448	0.39697	.	.	ENSG00000106991	ENST00000373203;ENST00000344849;ENST00000545345	T;T	0.43294	0.95;1.53	5.12	-2.65	0.06095	.	0.983052	0.08275	N	0.970874	T	0.27169	0.0666	L	0.34521	1.04	0.09310	N	0.999997	B;B	0.21147	0.052;0.024	B;B	0.06405	0.002;0.002	T	0.23691	-1.0181	10	0.48119	T	0.1	-9.5538	5.4555	0.16588	0.0:0.2675:0.4161:0.3163	.	38;38	Q5T9B9;P17813	.;EGLN_HUMAN	K	38	ENSP00000362299:E38K;ENSP00000341917:E38K	ENSP00000341917:E38K	E	-	1	0	ENG	129645301	0.000000	0.05858	0.001000	0.08648	0.947000	0.59692	-0.675000	0.05227	-0.505000	0.06568	0.561000	0.74099	GAG		0.547	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054313.1			22	127	0	0	0	1	0	22	127				
SI	6476	broad.mit.edu	37	3	164725727	164725727	+	Silent	SNP	G	G	A	rs138374817	byFrequency	TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr3:164725727G>A	ENST00000264382.3	-	36	4301	c.4239C>T	c.(4237-4239)gaC>gaT	p.D1413D		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1413	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AATTTAGTTCGTCATTTCTGC	0.259										HNSCC(35;0.089)			G|||	2	0.000399361	0.0008	0.0014	5008	,	,		12515	0.0		0.0	False		,,,				2504	0.0					ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(4237-4239)gaC>gaT		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)	G		0,4404		0,0,2202	147.0	154.0	152.0		4239	-9.8	0.0	3	dbSNP_134	152	2,8582	2.2+/-6.3	0,2,4290	no	coding-synonymous	SI	NM_001041.3		0,2,6492	AA,AG,GG		0.0233,0.0,0.0154		1413/1828	164725727	2,12986	2202	4292	6494	SO:0001819	synonymous_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164725727G>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4239C>T	3.37:g.164725727G>A		HNSCC(35;0.089)					p.D1413D	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			36	4301	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1413			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	c.4239C>T	CCDS3196.1																																																																																				0.259	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		17	57	0	0	0	1	0	17	57				
CRTC1	23373	broad.mit.edu	37	19	18856686	18856686	+	Silent	SNP	G	G	T			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr19:18856686G>T	ENST00000321949.8	+	3	323	c.297G>T	c.(295-297)ggG>ggT	p.G99G	CRTC1_ENST00000338797.6_Silent_p.G115G|CRTC1_ENST00000594658.1_Silent_p.G58G|CRTC1_ENST00000601916.1_Silent_p.G24G	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						GGCACCATGGGCTGGTGGACA	0.632																																						ENST00000338797.6																		CRTC1/MAML2(516)	0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						c.(343-345)ggG>ggT		CREB regulated transcription coactivator 1							47.0	58.0	54.0					19																	18856686		2202	4297	6499	SO:0001819	synonymous_variant	23373				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	g.chr19:18856686G>T	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.297G>T	19.37:g.18856686G>T						CRTC1_ENST00000321949.8_Silent_p.G99G|CRTC1_ENST00000601916.1_Silent_p.G24G|CRTC1_ENST00000594658.1_Silent_p.G58G	p.G115G	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN			4	370	+			99						Silent	SNP	ENST00000321949.8	37	c.345G>T	CCDS32963.1																																																																																				0.632	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		9	142	1	0	9.70103e-10	1	1.11341e-09	9	142				
KLHDC7A	127707	broad.mit.edu	37	1	18809727	18809727	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr1:18809727G>A	ENST00000400664.1	+	1	2304	c.2252G>A	c.(2251-2253)cGg>cAg	p.R751Q		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	751						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AAGGAGCTGCGGAGTTTCCCG	0.642																																						ENST00000400664.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(2251-2253)cGg>cAg		kelch domain containing 7A							71.0	74.0	73.0					1																	18809727		2203	4300	6503	SO:0001583	missense	127707					integral to membrane		g.chr1:18809727G>A	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.2252G>A	1.37:g.18809727G>A	ENSP00000383505:p.Arg751Gln						p.R751Q	NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	2304	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	751					Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	c.2252G>A	CCDS185.2	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.769182	0.00645	.	.	ENSG00000179023	ENST00000400664	T	0.17528	2.27	5.32	0.325	0.15903	.	0.949827	0.08795	N	0.892625	T	0.08313	0.0207	N	0.15975	0.35	0.09310	N	1	B	0.15719	0.014	B	0.08055	0.003	T	0.37934	-0.9684	10	0.02654	T	1	.	9.5713	0.39429	0.6145:0.0:0.3855:0.0	.	751	Q5VTJ3	KLD7A_HUMAN	Q	751	ENSP00000383505:R751Q	ENSP00000383505:R751Q	R	+	2	0	KLHDC7A	18682314	0.001000	0.12720	0.021000	0.16686	0.250000	0.25880	0.671000	0.25172	-0.197000	0.10350	-1.021000	0.02439	CGG		0.642	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		25	122	0	0	0	1	0	25	122				
MUC4	4585	broad.mit.edu	37	3	195505851	195505851	+	Silent	SNP	T	T	C	rs200522168		TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr3:195505851T>C	ENST00000463781.3	-	2	13059	c.12600A>G	c.(12598-12600)tcA>tcG	p.S4200S	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.S4200S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGTGGATGCTGAGGAAGTGT	0.592																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12598-12600)tcA>tcG		mucin 4, cell surface associated							18.0	14.0	15.0					3																	195505851		689	1574	2263	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505851T>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12600A>G	3.37:g.195505851T>C						MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.S4200S	p.S4200S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13059	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	963					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.12600A>G	CCDS54700.1																																																																																				0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	5	0	0	0	1	0	3	5				
VPS37A	137492	broad.mit.edu	37	8	17133958	17133958	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr8:17133958C>G	ENST00000324849.4	+	6	1369	c.695C>G	c.(694-696)cCa>cGa	p.P232R	VPS37A_ENST00000521829.1_Missense_Mutation_p.P207R	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	232					cell death (GO:0008219)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		GATGCATTTCCAGAACTCTCA	0.313																																						ENST00000324849.4																			0				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10						c.(694-696)cCa>cGa		vacuolar protein sorting 37 homolog A (S. cerevisiae)							97.0	96.0	96.0					8																	17133958		2203	4299	6502	SO:0001583	missense	137492				cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus		g.chr8:17133958C>G		CCDS6001.1, CCDS47811.1	8p22	2012-06-29	2006-04-04		ENSG00000155975	ENSG00000155975			24928	protein-coding gene	gene with protein product	"""hepatocellular carcinoma related protein 1"""	609927	"""vacuolar protein sorting 37A (yeast)"", ""polyglutamine binding protein 2"""	PQBP2		15240819, 15218037, 22717650	Standard	NM_152415		Approved	FLJ32642, HCRP1, SPG53	uc003wxj.3	Q8NEZ2	OTTHUMG00000130785	ENST00000324849.4:c.695C>G	8.37:g.17133958C>G	ENSP00000318629:p.Pro232Arg					VPS37A_ENST00000521829.1_Missense_Mutation_p.P207R	p.P232R	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN		Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)	6	1369	+			232					Q336D5|Q6NW27|Q8N3D7|Q8TBL7|Q96DL9	Missense_Mutation	SNP	ENST00000324849.4	37	c.695C>G	CCDS6001.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781016	0.70222	.	.	ENSG00000155975	ENST00000324849;ENST00000521829;ENST00000521976	T;T;D	0.82984	0.18;0.27;-1.67	4.25	4.25	0.50352	.	0.114001	0.64402	D	0.000009	D	0.84110	0.5400	N	0.24115	0.695	0.80722	D	1	P;D;D	0.69078	0.933;0.997;0.98	P;D;P	0.65010	0.618;0.931;0.463	D	0.86211	0.1625	10	0.66056	D	0.02	-14.0101	16.1068	0.81230	0.0:1.0:0.0:0.0	.	9;207;232	B3KW95;Q8NEZ2-2;Q8NEZ2	.;.;VP37A_HUMAN	R	232;207;5	ENSP00000318629:P232R;ENSP00000429680:P207R;ENSP00000429858:P5R	ENSP00000318629:P232R	P	+	2	0	VPS37A	17178329	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.390000	0.73204	2.649000	0.89929	0.650000	0.86243	CCA		0.313	VPS37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253301.2	NM_152415		5	38	0	0	0	1	0	5	38				
MALAT1	378938	broad.mit.edu	37	11	65268705	65268705	+	lincRNA	SNP	G	G	T			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr11:65268705G>T	ENST00000534336.1	+	0	3473				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		ATTTTTTTTTGTGGGGGTGGG	0.393																																						ENST00000534336.1																			0																				38.0	44.0	42.0					11																	65268705		874	1988	2862			378938							g.chr11:65268705G>T	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65268705G>T								NR_002819.2						0	3473	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.393	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		6	22	1	0	4.68919e-08	1	5.20448e-08	6	22				
CDON	50937	broad.mit.edu	37	11	125875682	125875682	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr11:125875682A>G	ENST00000392693.3	-	9	1950	c.1823T>C	c.(1822-1824)aTc>aCc	p.I608T	CDON_ENST00000263577.7_Missense_Mutation_p.I608T|CDON_ENST00000531738.1_5'Flank	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	608	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GTAAGCATTGATGGGCAGCCC	0.493																																						ENST00000392693.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(1822-1824)aTc>aCc		cell adhesion associated, oncogene regulated							89.0	83.0	85.0					11																	125875682		2201	4299	6500	SO:0001583	missense	50937				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	g.chr11:125875682A>G	AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.1823T>C	11.37:g.125875682A>G	ENSP00000376458:p.Ile608Thr					CDON_ENST00000263577.7_Missense_Mutation_p.I608T	p.I608T	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)	9	1950	-	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	608			Fibronectin type-III 1.		O14631	Missense_Mutation	SNP	ENST00000392693.3	37	c.1823T>C	CCDS58192.1	.	.	.	.	.	.	.	.	.	.	A	19.38	3.816185	0.70912	.	.	ENSG00000064309	ENST00000392693;ENST00000263577	T;T	0.62364	0.03;0.03	6.03	4.89	0.63831	Fibronectin, type III (4);	0.115282	0.39210	N	0.001431	T	0.77598	0.4154	M	0.79258	2.445	0.46028	D	0.998821	D;D	0.67145	0.996;0.995	D;D	0.68353	0.957;0.928	T	0.79711	-0.1689	10	0.72032	D	0.01	-20.8578	12.566	0.56310	0.8752:0.0:0.0:0.1248	.	608;608	Q4KMG0;Q4KMG0-2	CDON_HUMAN;.	T	608	ENSP00000376458:I608T;ENSP00000263577:I608T	ENSP00000263577:I608T	I	-	2	0	CDON	125380892	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	8.845000	0.92153	1.062000	0.40625	0.533000	0.62120	ATC		0.493	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952		9	57	0	0	0	1	0	9	57				
FMN2	56776	broad.mit.edu	37	1	240497499	240497499	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr1:240497499G>T	ENST00000319653.9	+	13	4965	c.4735G>T	c.(4735-4737)Gat>Tat	p.D1579Y	FMN2_ENST00000545751.1_Missense_Mutation_p.D175Y	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1579	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TTTTCAAAAAGATCTCAGAAA	0.378																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(4735-4737)Gat>Tat		formin 2							114.0	128.0	124.0					1																	240497499		2203	4299	6502	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240497499G>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4735G>T	1.37:g.240497499G>T	ENSP00000318884:p.Asp1579Tyr					FMN2_ENST00000545751.1_Missense_Mutation_p.D175Y	p.D1579Y	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		13	4965	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1579			FH2.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.4735G>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513001	0.85389	.	.	ENSG00000155816	ENST00000319653;ENST00000545751;ENST00000537355;ENST00000406993	T;T	0.50813	0.73;0.73	5.5	5.5	0.81552	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.64402	D	0.000005	T	0.75443	0.3850	M	0.89095	3.005	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.997;1.0;0.999	T	0.80246	-0.1462	10	0.87932	D	0	.	19.3799	0.94529	0.0:0.0:1.0:0.0	.	175;225;208;1579	B4DP05;F5H2C1;B4DN09;Q9NZ56	.;.;.;FMN2_HUMAN	Y	1579;175;206;55	ENSP00000318884:D1579Y;ENSP00000437918:D175Y	ENSP00000318884:D1579Y	D	+	1	0	FMN2	238564122	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	9.837000	0.99465	2.580000	0.87095	0.591000	0.81541	GAT		0.378	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		30	148	1	0	8.16721e-17	1	9.70456e-17	30	148				
PTPRB	5787	broad.mit.edu	37	12	70988277	70988277	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr12:70988277G>T	ENST00000261266.5	-	4	861	c.832C>A	c.(832-834)Caa>Aaa	p.Q278K	PTPRB_ENST00000451516.2_Missense_Mutation_p.Q278K|PTPRB_ENST00000334414.6_Missense_Mutation_p.Q496K|PTPRB_ENST00000550857.1_Missense_Mutation_p.Q278K|PTPRB_ENST00000550358.1_Missense_Mutation_p.Q496K|PTPRB_ENST00000551525.1_Missense_Mutation_p.Q495K|PTPRB_ENST00000538708.1_Missense_Mutation_p.Q278K|PTPRB_ENST00000538174.2_5'UTR	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	278	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTGTAGTTTTGCAGCCCTGCA	0.458																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(1486-1488)Caa>Aaa		protein tyrosine phosphatase, receptor type, B							115.0	113.0	114.0					12																	70988277		1939	4136	6075	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70988277G>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.832C>A	12.37:g.70988277G>T	ENSP00000261266:p.Gln278Lys					PTPRB_ENST00000261266.5_Missense_Mutation_p.Q278K|PTPRB_ENST00000551525.1_Missense_Mutation_p.Q495K|PTPRB_ENST00000550358.1_Missense_Mutation_p.Q496K|PTPRB_ENST00000550857.1_Missense_Mutation_p.Q278K|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000451516.2_Missense_Mutation_p.Q278K|PTPRB_ENST00000538708.1_Missense_Mutation_p.Q278K	p.Q496K	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		6	1530	-	Renal(347;0.236)		278			Fibronectin type-III 6.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.1486C>A	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	G	8.234	0.805252	0.16467	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.04360	4.13;4.15;4.1;4.18;4.15;4.2;3.64;3.68	5.61	2.71	0.32032	Fibronectin, type III (3);	0.537521	0.20341	N	0.094231	T	0.05502	0.0145	L	0.54323	1.7	0.09310	N	1	B;B;P;P;P;B;B;B	0.47841	0.338;0.338;0.594;0.901;0.899;0.338;0.228;0.185	B;B;B;P;B;B;B;B	0.45681	0.26;0.373;0.146;0.49;0.408;0.281;0.094;0.281	T	0.19943	-1.0290	10	0.11182	T	0.66	.	4.1578	0.10270	0.0738:0.158:0.4355:0.3328	.	278;278;375;496;495;496;278;496	P23467-2;F5H3G6;Q6ZR19;Q6ZTX7;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;.;PTPRB_HUMAN;.	K	496;278;496;496;278;278;278;495;375	ENSP00000334928:Q496K;ENSP00000393028:Q278K;ENSP00000448058:Q496K;ENSP00000438927:Q278K;ENSP00000447302:Q278K;ENSP00000261266:Q278K;ENSP00000448349:Q495K;ENSP00000446982:Q375K	ENSP00000261266:Q278K	Q	-	1	0	PTPRB	69274544	0.885000	0.30320	0.871000	0.34182	0.123000	0.20343	1.469000	0.35343	0.704000	0.31869	-0.181000	0.13052	CAA		0.458	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			13	47	1	0	1.5842e-08	1	1.77782e-08	13	47				
HERC1	8925	broad.mit.edu	37	15	63904614	63904614	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr15:63904614C>T	ENST00000443617.2	-	77	14323	c.14236G>A	c.(14236-14238)Gag>Aag	p.E4746K		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4746	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCATCCACCTCACGGTACCGC	0.552																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(14236-14238)Gag>Aag		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							155.0	152.0	153.0					15																	63904614		2157	4258	6415	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63904614C>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.14236G>A	15.37:g.63904614C>T	ENSP00000390158:p.Glu4746Lys						p.E4746K	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			77	14323	-			4746			HECT.		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.14236G>A	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	34	5.348924	0.95807	.	.	ENSG00000103657	ENST00000443617	D	0.82619	-1.63	5.62	5.62	0.85841	HECT (4);	0.000000	0.85682	D	0.000000	D	0.87454	0.6181	L	0.31845	0.965	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.87192	0.2235	10	0.48119	T	0.1	.	19.6763	0.95934	0.0:1.0:0.0:0.0	.	4746	Q15751	HERC1_HUMAN	K	4746	ENSP00000390158:E4746K	ENSP00000390158:E4746K	E	-	1	0	HERC1	61691667	1.000000	0.71417	0.979000	0.43373	0.841000	0.47740	7.818000	0.86416	2.644000	0.89710	0.650000	0.86243	GAG		0.552	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		18	111	0	0	0	1	0	18	111				
DST	667	broad.mit.edu	37	6	56473842	56473842	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr6:56473842T>C	ENST00000361203.3	-	36	4958	c.4951A>G	c.(4951-4953)Agc>Ggc	p.S1651G	DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Missense_Mutation_p.S1829G|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.S1651G|DST_ENST00000446842.2_Missense_Mutation_p.S1325G|DST_ENST00000312431.6_Missense_Mutation_p.S1651G|DST_ENST00000244364.6_Intron			Q03001	DYST_HUMAN	dystonin	1651					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTTATCATGCTTTGAGCTAGA	0.428																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(5485-5487)Agc>Ggc		dystonin							269.0	261.0	263.0					6																	56473842		1896	4132	6028	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56473842T>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.4951A>G	6.37:g.56473842T>C	ENSP00000354508:p.Ser1651Gly					DST_ENST00000370769.4_Missense_Mutation_p.S1651G|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Missense_Mutation_p.S1651G|DST_ENST00000312431.6_Missense_Mutation_p.S1651G|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Missense_Mutation_p.S1325G	p.S1829G			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		39	5484	-	Lung NSC(77;0.103)		1651					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.5485A>G		.	.	.	.	.	.	.	.	.	.	T	0.023	-1.402099	0.01165	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15;0.15	5.52	3.53	0.40419	.	0.116551	0.38164	N	0.001783	T	0.10981	0.0268	.	.	.	0.22142	N	0.999338	B	0.02656	0.0	B	0.04013	0.001	T	0.18745	-1.0327	8	0.02654	T	1	.	6.8887	0.24216	0.0:0.687:0.1448:0.1682	.	1325	Q03001-9	.	G	1829;1651;1325;1651;1651;1325	ENSP00000359790:S1829G;ENSP00000359805:S1651G;ENSP00000393645:S1325G;ENSP00000307959:S1651G;ENSP00000354508:S1651G;ENSP00000404924:S1325G	ENSP00000307959:S1651G	S	-	1	0	DST	56581801	0.945000	0.32115	0.990000	0.47175	0.847000	0.48162	2.355000	0.44107	1.370000	0.46153	0.455000	0.32223	AGC		0.428	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		51	232	0	0	0	1	0	51	232				
CSPG4	1464	broad.mit.edu	37	15	75981291	75981291	+	Silent	SNP	C	C	T			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr15:75981291C>T	ENST00000308508.5	-	3	2207	c.2115G>A	c.(2113-2115)ggG>ggA	p.G705G		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	705	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ACTGCAGGGCCCCAGTGACGC	0.667																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(2113-2115)ggG>ggA		chondroitin sulfate proteoglycan 4							60.0	61.0	61.0					15																	75981291		2197	4291	6488	SO:0001819	synonymous_variant	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75981291C>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.2115G>A	15.37:g.75981291C>T							p.G705G	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	2207	-			705			Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.2115G>A	CCDS10284.1																																																																																				0.667	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		5	181	0	0	0	1	0	5	181				
NEDD1	121441	broad.mit.edu	37	12	97339486	97339486	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr12:97339486C>T	ENST00000266742.4	+	14	2009	c.1670C>T	c.(1669-1671)tCt>tTt	p.S557F	NEDD1_ENST00000457368.2_Missense_Mutation_p.S468F|NEDD1_ENST00000411739.2_Missense_Mutation_p.S468F|NEDD1_ENST00000557644.1_Missense_Mutation_p.S564F|NEDD1_ENST00000429527.2_Missense_Mutation_p.S557F	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	557					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						AAGATAGCATCTTCTGTCACT	0.363																																						ENST00000266742.4																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						c.(1669-1671)tCt>tTt		neural precursor cell expressed, developmentally down-regulated 1							72.0	70.0	71.0					12																	97339486		2203	4300	6503	SO:0001583	missense	121441				cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol		g.chr12:97339486C>T		CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"""WD repeat domain containing"""	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.1670C>T	12.37:g.97339486C>T	ENSP00000266742:p.Ser557Phe					NEDD1_ENST00000411739.2_Missense_Mutation_p.S468F|NEDD1_ENST00000557644.1_Missense_Mutation_p.S564F|NEDD1_ENST00000429527.2_Missense_Mutation_p.S557F|NEDD1_ENST00000457368.2_Missense_Mutation_p.S468F	p.S557F	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN			14	2009	+			557					B0AZN0|B4E145|G3V3F1|Q8NA30	Missense_Mutation	SNP	ENST00000266742.4	37	c.1670C>T	CCDS9063.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136852	0.77662	.	.	ENSG00000139350	ENST00000266742;ENST00000429527;ENST00000411739;ENST00000557644;ENST00000457368	T;T;T;T;T	0.53857	0.6;0.6;1.42;0.6;1.42	5.87	5.87	0.94306	.	0.177551	0.51477	D	0.000089	T	0.70596	0.3242	L	0.56769	1.78	0.46096	D	0.998863	D;D	0.76494	0.999;0.998	D;P	0.67548	0.952;0.897	T	0.71192	-0.4665	10	0.87932	D	0	.	20.2192	0.98319	0.0:1.0:0.0:0.0	.	564;557	G3V3F1;Q8NHV4	.;NEDD1_HUMAN	F	557;557;468;564;468	ENSP00000266742:S557F;ENSP00000404978:S557F;ENSP00000411307:S468F;ENSP00000451211:S564F;ENSP00000407964:S468F	ENSP00000266742:S557F	S	+	2	0	NEDD1	95863617	0.986000	0.35501	1.000000	0.80357	0.987000	0.75469	5.829000	0.69316	2.780000	0.95670	0.655000	0.94253	TCT		0.363	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409792.1			9	35	0	0	0	1	0	9	35				
AGAP7P	653268	broad.mit.edu	37	10	51464838	51464838	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr10:51464838T>C	ENST00000374095.5	-	7	1743	c.1618A>G	c.(1618-1620)Aag>Gag	p.K540E		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		540	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CACCGTTCCTTCTCTTCCCTC	0.572																																						ENST00000374095.5																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						c.(1618-1620)Aag>Gag		ArfGAP with GTPase domain, ankyrin repeat and PH domain 7							113.0	135.0	128.0					10																	51464838		2197	4296	6493	SO:0001583	missense	653268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51464838T>C																												ENST00000374095.5:c.1618A>G	10.37:g.51464838T>C	ENSP00000363208:p.Lys540Glu						p.K540E	NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN			7	1743	-			540			Arf-GAP.		A6NGH4	Missense_Mutation	SNP	ENST00000374095.5	37	c.1618A>G	CCDS41524.1	.	.	.	.	.	.	.	.	.	.	.	11.61	1.690960	0.29962	.	.	ENSG00000204169	ENST00000374095	T	0.44482	0.92	.	.	.	.	0.177477	0.47093	N	0.000241	T	0.66127	0.2758	H	0.94771	3.58	0.32090	N	0.591943	D	0.59357	0.985	D	0.74348	0.983	T	0.67715	-0.5599	9	0.87932	D	0	.	4.6093	0.12395	0.0:5.0E-4:0.0:0.9995	.	540	Q5VUJ5	AGAP7_HUMAN	E	540	ENSP00000363208:K540E	ENSP00000363208:K540E	K	-	1	0	AGAP7	51134844	0.784000	0.28713	0.039000	0.18376	0.039000	0.13416	0.477000	0.22196	0.149000	0.19098	0.147000	0.16070	AAG		0.572	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048033.1			22	215	0	0	0	1	0	22	215				
HIST1H4G	8369	broad.mit.edu	37	6	26247100	26247100	+	Silent	SNP	G	G	T			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr6:26247100G>T	ENST00000244537.4	-	1	159	c.106C>A	c.(106-108)Cgg>Agg	p.R36R		NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN	histone cluster 1, H4g	36						nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				GCCAAGCGCCGGATAGTGCAC	0.562																																						ENST00000244537.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(106-108)Cgg>Agg		histone cluster 1, H4g							49.0	46.0	47.0					6																	26247100		2203	4300	6503	SO:0001819	synonymous_variant	8369				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26247100G>T	Z80788	CCDS4599.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124578	ENSG00000275663		"""Histones / Replication-dependent"""	4792	protein-coding gene	gene with protein product		602832	"""H4 histone family, member L"", ""histone 1, H4g"""	H4FL		9119399, 12408966	Standard	NM_003547		Approved	H4/l	uc003nhf.3	Q99525	OTTHUMG00000014444	ENST00000244537.4:c.106C>A	6.37:g.26247100G>T							p.R36R	NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN			1	159	-		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)	36						Silent	SNP	ENST00000244537.4	37	c.106C>A	CCDS4599.1																																																																																				0.562	HIST1H4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040107.1	NM_003547		9	61	1	0	1.12685e-05	1	1.22378e-05	9	61				
ADM2	79924	broad.mit.edu	37	22	50921173	50921173	+	Silent	SNP	G	G	A			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr22:50921173G>A	ENST00000395738.2	+	2	580	c.288G>A	c.(286-288)tcG>tcA	p.S96S	ADM2_ENST00000395737.1_Silent_p.S96S|ADM2_ENST00000362068.2_Missense_Mutation_p.R13Q	NM_001253845.1|NM_024866.5	NP_001240774.1|NP_079142.2	Q7Z4H4	ADM2_HUMAN	adrenomedullin 2	96					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|digestion (GO:0007586)|feeding behavior (GO:0007631)|negative regulation of blood pressure (GO:0045776)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)	extracellular region (GO:0005576)	protein complex binding (GO:0032403)			breast(1)|kidney(1)	2		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;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GAAGACACTCGGGCCCCCGCA	0.697																																						ENST00000362068.2																			0				breast(1)|kidney(1)	2						c.(37-39)cGg>cAg		adrenomedullin 2							8.0	11.0	10.0					22																	50921173		2005	4020	6025	SO:0001819	synonymous_variant	79924				positive regulation of angiogenesis	extracellular region	hormone activity	g.chr22:50921173G>A	AF529213	CCDS33682.1	22q13.33	2013-02-25			ENSG00000128165	ENSG00000128165		"""Endogenous ligands"""	28898	protein-coding gene	gene with protein product		608682				14706825	Standard	NM_024866		Approved	AM2, FLJ21135	uc003blj.3	Q7Z4H4	OTTHUMG00000150202	ENST00000395738.2:c.288G>A	22.37:g.50921173G>A						ADM2_ENST00000395737.1_Silent_p.S96S|ADM2_ENST00000395738.2_Silent_p.S96S	p.R13Q			Q7Z4H4	ADM2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	2	553	+		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)	48					Q3LFQ0	Missense_Mutation	SNP	ENST00000395738.2	37	c.38G>A	CCDS33682.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.071190	0.36566	.	.	ENSG00000128165	ENST00000362068	.	.	.	4.62	1.17	0.20885	.	.	.	.	.	T	0.33702	0.0872	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27191	-1.0081	5	0.44086	T	0.13	.	4.2206	0.10556	0.2364:0.2141:0.5495:0.0	.	.	.	.	Q	13	.	ENSP00000354955:R13Q	R	+	2	0	ADM2	49268039	0.000000	0.05858	0.010000	0.14722	0.332000	0.28634	-0.542000	0.06091	0.025000	0.15241	0.448000	0.29417	CGG		0.697	ADM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316816.1	NM_024866		9	18	0	0	0	1	0	9	18				
CSPG4	1464	broad.mit.edu	37	15	75981284	75981284	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr15:75981284G>T	ENST00000308508.5	-	3	2214	c.2122C>A	c.(2122-2124)Cag>Aag	p.Q708K		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	708	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TCCCCAAACTGCAGGGCCCCA	0.672																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(2122-2124)Cag>Aag		chondroitin sulfate proteoglycan 4							58.0	59.0	59.0					15																	75981284		2197	4291	6488	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75981284G>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.2122C>A	15.37:g.75981284G>T	ENSP00000312506:p.Gln708Lys						p.Q708K	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	2214	-			708			Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.2122C>A	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-2.901712	0.00058	.	.	ENSG00000173546	ENST00000308508	T	0.26373	1.74	5.48	3.56	0.40772	.	0.971872	0.08403	N	0.951160	T	0.19805	0.0476	L	0.33485	1.01	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.33266	-0.9875	10	0.19147	T	0.46	.	9.1051	0.36692	0.0:0.1265:0.461:0.4125	.	708	Q6UVK1	CSPG4_HUMAN	K	708	ENSP00000312506:Q708K	ENSP00000312506:Q708K	Q	-	1	0	CSPG4	73768339	0.000000	0.05858	0.007000	0.13788	0.014000	0.08584	0.217000	0.17603	0.642000	0.30620	0.650000	0.86243	CAG		0.672	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		6	181	1	0	0.00307968	1	0.00324008	6	181				
TPO	7173	broad.mit.edu	37	2	1491667	1491667	+	Missense_Mutation	SNP	G	G	A	rs575622093		TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr2:1491667G>A	ENST00000345913.4	+	10	1763	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K	TPO_ENST00000382201.3_Intron|TPO_ENST00000497517.2_Intron|TPO_ENST00000329066.4_Missense_Mutation_p.E558K|TPO_ENST00000337415.3_Missense_Mutation_p.E558K|TPO_ENST00000382198.1_Missense_Mutation_p.E385K|TPO_ENST00000346956.3_Missense_Mutation_p.E558K|TPO_ENST00000349624.3_Missense_Mutation_p.E385K	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	558					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.E558K(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCTGATGAACGAGGAGCTGAC	0.562													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17138	0.0		0.0	False		,,,				2504	0.0					ENST00000345913.4																			1	Substitution - Missense(1)	p.E558K(1)	lung(1)	breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(1672-1674)Gag>Aag		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						135.0	112.0	120.0					2																	1491667		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1491667G>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1672G>A	2.37:g.1491667G>A	ENSP00000318820:p.Glu558Lys					TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.E385K|TPO_ENST00000329066.4_Missense_Mutation_p.E558K|TPO_ENST00000337415.3_Missense_Mutation_p.E558K|TPO_ENST00000346956.3_Missense_Mutation_p.E558K|TPO_ENST00000382198.1_Missense_Mutation_p.E385K|TPO_ENST00000382201.3_Intron	p.E558K	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	10	1763	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	558					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.1672G>A	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680169	0.68042	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382198;ENST00000422464	T;T;T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	4.78	2.94	0.34122	.	0.152629	0.56097	D	0.000024	T	0.71151	0.3306	L	0.39692	1.235	0.80722	D	1	D;P;D	0.54207	0.957;0.919;0.965	B;B;P	0.47891	0.424;0.276;0.56	T	0.71097	-0.4691	10	0.49607	T	0.09	-30.7742	14.8086	0.69977	0.0:0.2732:0.7267:0.0	.	558;385;558	P07202-4;P07202-5;P07202	.;.;PERT_HUMAN	K	558;558;558;385;558;385;487	ENSP00000337263:E558K;ENSP00000318820:E558K;ENSP00000263886:E558K;ENSP00000332044:E385K;ENSP00000329869:E558K;ENSP00000371633:E385K;ENSP00000405788:E487K	ENSP00000329869:E558K	E	+	1	0	TPO	1470674	1.000000	0.71417	0.745000	0.31077	0.601000	0.36947	5.250000	0.65432	0.410000	0.25675	0.591000	0.81541	GAG		0.562	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		16	72	0	0	0	1	0	16	72				
FAM86DP	692099	broad.mit.edu	37	3	75475607	75475607	+	RNA	SNP	C	C	T			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr3:75475607C>T	ENST00000459803.1	-	0	922					NR_024241.1				family with sequence similarity 86, member D, pseudogene																		TCACCTAGCTCGGTGGTGAAC	0.652																																						ENST00000459803.1																			0																																																			692099							g.chr3:75475607C>T	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75475607C>T								NR_024241.1						0	922	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.652	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		5	62	0	0	0	1	0	5	62				
APMAP	57136	broad.mit.edu	37	20	24950953	24950953	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr20:24950953G>A	ENST00000217456.2	-	6	883	c.593C>T	c.(592-594)tCc>tTc	p.S198F	APMAP_ENST00000447138.1_Missense_Mutation_p.S198F	NM_020531.2	NP_065392.1	Q9HDC9	APMAP_HUMAN	adipocyte plasma membrane associated protein	198					biosynthetic process (GO:0009058)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	arylesterase activity (GO:0004064)|strictosidine synthase activity (GO:0016844)										ATTCACAAAGGACATGTTCTT	0.428																																						ENST00000217456.2																			0											c.(592-594)tCc>tTc		adipocyte plasma membrane associated protein							201.0	182.0	188.0					20																	24950953		2203	4300	6503	SO:0001583	missense	57136							g.chr20:24950953G>A	AB033767	CCDS13166.1	20p11.2	2012-07-20	2012-07-20	2012-07-20	ENSG00000101474	ENSG00000101474			13238	protein-coding gene	gene with protein product		615884	"""chromosome 20 open reading frame 3"""	C20orf3		10945474, 11583587, 20552250	Standard	NM_020531		Approved	BSCv	uc002wty.3	Q9HDC9	OTTHUMG00000032107	ENST00000217456.2:c.593C>T	20.37:g.24950953G>A	ENSP00000217456:p.Ser198Phe					APMAP_ENST00000447138.1_Missense_Mutation_p.S198F	p.S198F	NM_020531.2	NP_065392.1					6	883	-								A8K514|B4DXG1|Q6UVZ8|Q9GZS8|Q9NUB2	Missense_Mutation	SNP	ENST00000217456.2	37	c.593C>T	CCDS13166.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.991696|3.991696	0.74703|0.74703	.|.	.|.	ENSG00000101474|ENSG00000101474	ENST00000451442|ENST00000217456;ENST00000447138	.|T;T	.|0.30981	.|1.51;1.51	5.45|5.45	5.45|5.45	0.79879|0.79879	.|Six-bladed beta-propeller, TolB-like (1);	.|0.116409	.|0.64402	.|D	.|0.000010	T|T	0.48040|0.48040	0.1478|0.1478	M|M	0.82056|0.82056	2.57|2.57	0.53005|0.53005	D|D	0.999962|0.999962	.|D;D;P	.|0.57571	.|0.979;0.98;0.894	.|P;P;P	.|0.51582	.|0.666;0.674;0.465	T|T	0.46233|0.46233	-0.9206|-0.9206	5|10	.|0.30854	.|T	.|0.27	-26.0282|-26.0282	16.7821|16.7821	0.85565|0.85565	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|198;182;198	.|Q9HDC9-2;A2A2F9;Q9HDC9	.|.;.;APMAP_HUMAN	S|F	183|198	.|ENSP00000217456:S198F;ENSP00000415373:S198F	.|ENSP00000217456:S198F	P|S	-|-	1|2	0|0	C20orf3|C20orf3	24898953|24898953	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	6.423000|6.423000	0.73361|0.73361	2.555000|2.555000	0.86185|0.86185	0.655000|0.655000	0.94253|0.94253	CCT|TCC		0.428	APMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078380.2	NM_020531		21	122	0	0	0	1	0	21	122				
UGT2B11	10720	broad.mit.edu	37	4	70079796	70079796	+	Silent	SNP	G	G	A			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr4:70079796G>A	ENST00000446444.1	-	1	653	c.645C>T	c.(643-645)atC>atT	p.I215I	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	215					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						AAAGCACATAGATCATATTTT	0.348																																						ENST00000446444.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(643-645)atC>atT		UDP glucuronosyltransferase 2 family, polypeptide B11							62.0	60.0	61.0					4																	70079796		2201	4299	6500	SO:0001819	synonymous_variant	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70079796G>A	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.645C>T	4.37:g.70079796G>A						RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	p.I215I	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN			1	653	-			215					Q3KNV9	Silent	SNP	ENST00000446444.1	37	c.645C>T	CCDS3527.1																																																																																				0.348	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		9	66	0	0	0	1	0	9	66				
SCN1A	6323	broad.mit.edu	37	2	166848095	166848095	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr2:166848095T>C	ENST00000303395.4	-	26	5689	c.5690A>G	c.(5689-5691)aAt>aGt	p.N1897S	SCN1A_ENST00000375405.3_Missense_Mutation_p.N1886S|SCN1A_ENST00000409050.1_Missense_Mutation_p.N1869S|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.N1897S			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1897					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTTGGAAGGATTGGAAGCCAT	0.428																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(5689-5691)aAt>aGt		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						99.0	92.0	94.0					2																	166848095		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848095T>C	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5690A>G	2.37:g.166848095T>C	ENSP00000303540:p.Asn1897Ser					AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.N1897S|SCN1A_ENST00000409050.1_Missense_Mutation_p.N1869S|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.N1886S	p.N1897S	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			26	5707	-			1897					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.5690A>G	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	T	15.46	2.841147	0.51057	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96459	-4.02;-4.02;-3.97;-3.96	5.6	4.42	0.53409	.	0.000000	0.64402	D	0.000002	D	0.98131	0.9383	M	0.88450	2.955	0.47778	D	0.999516	D	0.89917	1.0	D	0.87578	0.998	D	0.98448	1.0590	10	0.87932	D	0	.	12.2228	0.54443	0.1278:0.0:0.0:0.8722	.	1886	P35498-2	.	S	1897;1897;1886;1869	ENSP00000407030:N1897S;ENSP00000303540:N1897S;ENSP00000364554:N1886S;ENSP00000386312:N1869S	ENSP00000303540:N1897S	N	-	2	0	SCN1A	166556341	1.000000	0.71417	0.966000	0.40874	0.886000	0.51366	7.994000	0.88315	1.032000	0.39892	-0.341000	0.08007	AAT		0.428	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		16	85	0	0	0	1	0	16	85				
KRTAP20-2	337976	broad.mit.edu	37	21	32007656	32007656	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr21:32007656G>C	ENST00000330798.2	+	1	102	c.74G>C	c.(73-75)gGc>gCc	p.G25A		NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	25						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						TATGGCTGTGGCTGTGGTTAT	0.547																																						ENST00000330798.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						c.(73-75)gGc>gCc		keratin associated protein 20-2							204.0	161.0	176.0					21																	32007656		2203	4300	6503	SO:0001583	missense	337976					intermediate filament		g.chr21:32007656G>C	AP001708	CCDS13604.1	21q22.1	2006-03-13			ENSG00000184032	ENSG00000184032		"""Keratin associated proteins"""	18944	protein-coding gene	gene with protein product						12359730	Standard	NM_181616		Approved	KAP20.2	uc011adg.2	Q3LI61	OTTHUMG00000057786	ENST00000330798.2:c.74G>C	21.37:g.32007656G>C	ENSP00000330746:p.Gly25Ala						p.G25A	NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN			1	102	+			25						Missense_Mutation	SNP	ENST00000330798.2	37	c.74G>C	CCDS13604.1	.	.	.	.	.	.	.	.	.	.	G	7.925	0.739403	0.15642	.	.	ENSG00000184032	ENST00000330798	T	0.16073	2.37	4.38	3.49	0.39957	.	.	.	.	.	T	0.19886	0.0478	.	.	.	0.09310	N	1	P	0.47253	0.892	P	0.46253	0.509	T	0.08006	-1.0743	8	0.87932	D	0	.	8.371	0.32415	0.1081:0.0:0.8919:0.0	.	25	Q3LI61	KR202_HUMAN	A	25	ENSP00000330746:G25A	ENSP00000330746:G25A	G	+	2	0	KRTAP20-2	30929527	0.003000	0.15002	0.004000	0.12327	0.012000	0.07955	0.385000	0.20685	1.208000	0.43306	0.557000	0.71058	GGC		0.547	KRTAP20-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128238.3			10	129	0	0	0	1	0	10	129				
CCDC73	493860	broad.mit.edu	37	11	32635518	32635518	+	Silent	SNP	C	C	T			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr11:32635518C>T	ENST00000335185.5	-	16	2389	c.2346G>A	c.(2344-2346)gaG>gaA	p.E782E	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	782										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					CATGACTATTCTCATTGTTAA	0.323																																						ENST00000335185.5																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51						c.(2344-2346)gaG>gaA		coiled-coil domain containing 73							98.0	84.0	88.0					11																	32635518		1834	4088	5922	SO:0001819	synonymous_variant	493860							g.chr11:32635518C>T	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.2346G>A	11.37:g.32635518C>T							p.E782E	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN			16	2389	-	Breast(20;0.112)		782					Q6P5Q7|Q6ZMW0|Q86WE7	Silent	SNP	ENST00000335185.5	37	c.2346G>A	CCDS41630.1																																																																																				0.323	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		7	32	0	0	0	1	0	7	32				
CHRM4	1132	broad.mit.edu	37	11	46406910	46406910	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr11:46406910G>A	ENST00000433765.2	-	1	1197	c.1198C>T	c.(1198-1200)Cga>Tga	p.R400*		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	400					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	AAGATCGTTCGTGTCACTTTG	0.617																																					Esophageal Squamous(171;1020 1936 4566 30205 42542)	ENST00000433765.2																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20						c.(1198-1200)Cga>Tga		cholinergic receptor, muscarinic 4	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)						98.0	101.0	100.0					11																	46406910		2197	4297	6494	SO:0001587	stop_gained	1132				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	g.chr11:46406910G>A	M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1953	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 4"""	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.1198C>T	11.37:g.46406910G>A	ENSP00000409378:p.Arg400*						p.R400*	NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN		GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	1	1197	-			400					B2RPP4|Q0VD60|Q4VBK7	Nonsense_Mutation	SNP	ENST00000433765.2	37	c.1198C>T	CCDS44581.1	.	.	.	.	.	.	.	.	.	.	g	17.51	3.408364	0.62399	.	.	ENSG00000180720	ENST00000433765	.	.	.	4.58	2.65	0.31530	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.4336	8.9581	0.35829	0.0:0.1371:0.4426:0.4203	.	.	.	.	X	400	.	ENSP00000409378:R400X	R	-	1	2	CHRM4	46363486	0.946000	0.32159	0.638000	0.29380	0.914000	0.54420	2.184000	0.42575	0.523000	0.28482	0.457000	0.33378	CGA		0.617	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334985.1	NM_000741		9	76	0	0	0	1	0	9	76				
PDGFRB	5159	broad.mit.edu	37	5	149502614	149502614	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr5:149502614G>A	ENST00000261799.4	-	15	2643	c.2174C>T	c.(2173-2175)cCc>cTc	p.P725L		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	725	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCTGGGCAGGGGGAGCCCAAC	0.637			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																	ENST00000261799.4				Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""		"""MPD, AML, CMML, CML"""		0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75						c.(2173-2175)cCc>cTc		platelet-derived growth factor receptor, beta polypeptide	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						79.0	84.0	82.0					5																	149502614		2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149502614G>A	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.2174C>T	5.37:g.149502614G>A	ENSP00000261799:p.Pro725Leu						p.P725L	NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		15	2643	-		all_hematologic(541;0.224)	725			Protein kinase.		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.2174C>T	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.753795	0.31046	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	T	0.74842	-0.88	3.54	2.65	0.31530	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.625976	0.14035	N	0.345819	T	0.56949	0.2020	N	0.21373	0.66	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.10450	0.005;0.004	T	0.44544	-0.9321	10	0.35671	T	0.21	.	6.3334	0.21282	0.0:0.3248:0.3793:0.2959	.	725;725	A8KAM8;P09619	.;PGFRB_HUMAN	L	725;395	ENSP00000261799:P725L	ENSP00000261799:P725L	P	-	2	0	PDGFRB	149482807	0.996000	0.38824	0.127000	0.21898	0.197000	0.23852	0.304000	0.19228	1.032000	0.39892	0.561000	0.74099	CCC		0.637	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		8	156	0	0	0	1	0	8	156				
MAPKAP1	79109	broad.mit.edu	37	9	128246829	128246829	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr9:128246829G>A	ENST00000373498.1	-	8	1168	c.1100C>T	c.(1099-1101)tCg>tTg	p.S367L	MAPKAP1_ENST00000373503.3_Missense_Mutation_p.S175L|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.S175L|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.S331L|MAPKAP1_ENST00000373511.2_Intron|MAPKAP1_ENST00000265960.3_Missense_Mutation_p.S367L|MAPKAP1_ENST00000373497.5_Missense_Mutation_p.S80L			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	367					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						GTCAATTTGCGAATCCTCCTC	0.453																																						ENST00000265960.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						c.(1099-1101)tCg>tTg		mitogen-activated protein kinase associated protein 1							207.0	170.0	183.0					9																	128246829		2203	4300	6503	SO:0001583	missense	79109				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding	g.chr9:128246829G>A	M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"""stress-activated protein kinase-interacting 1"""	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.1100C>T	9.37:g.128246829G>A	ENSP00000362597:p.Ser367Leu					MAPKAP1_ENST00000394063.1_Missense_Mutation_p.S175L|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.S331L|MAPKAP1_ENST00000373498.1_Missense_Mutation_p.S367L|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.S175L|MAPKAP1_ENST00000373511.2_Intron|MAPKAP1_ENST00000373497.5_Missense_Mutation_p.S80L	p.S367L	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN			9	1432	-			367					A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Missense_Mutation	SNP	ENST00000373498.1	37	c.1100C>T	CCDS35140.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694850	0.68386	.	.	ENSG00000119487	ENST00000350766;ENST00000373503;ENST00000373498;ENST00000265960;ENST00000394063;ENST00000373497;ENST00000420643	.	.	.	6.17	6.17	0.99709	.	0.103460	0.64402	D	0.000002	T	0.41026	0.1141	N	0.08118	0	0.49051	D	0.99974	B;B;B	0.28801	0.223;0.072;0.15	B;B;B	0.24394	0.041;0.026;0.053	T	0.23119	-1.0197	9	0.27082	T	0.32	-1.5332	20.8794	0.99867	0.0:0.0:1.0:0.0	.	80;331;367	B7Z5E5;Q9BPZ7-2;Q9BPZ7	.;.;SIN1_HUMAN	L	331;175;367;367;175;80;139	.	ENSP00000265960:S367L	S	-	2	0	MAPKAP1	127286650	1.000000	0.71417	0.988000	0.46212	0.961000	0.63080	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	TCG		0.453	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054092.1			13	57	0	0	0	1	0	13	57				
GRAMD1C	54762	broad.mit.edu	37	3	113655241	113655241	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr3:113655241C>G	ENST00000358160.4	+	14	2077	c.1585C>G	c.(1585-1587)Cag>Gag	p.Q529E	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.Q324E|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.Q362E|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.Q258E	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	529						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						ACTTTCCTCTCAGCATTCCTC	0.428																																						ENST00000358160.4																			0				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						c.(1585-1587)Cag>Gag		GRAM domain containing 1C							123.0	120.0	121.0					3																	113655241		2203	4300	6503	SO:0001583	missense	54762					integral to membrane		g.chr3:113655241C>G		CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.1585C>G	3.37:g.113655241C>G	ENSP00000350881:p.Gln529Glu					GRAMD1C_ENST00000452134.2_Missense_Mutation_p.Q258E|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.Q324E|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.Q362E	p.Q529E	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN			14	2077	+			529					A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	ENST00000358160.4	37	c.1585C>G	CCDS33826.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.063806	0.36373	.	.	ENSG00000178075	ENST00000358160;ENST00000452134;ENST00000472026;ENST00000462838;ENST00000440446	T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89	6.06	6.06	0.98353	.	0.832143	0.11098	N	0.600009	T	0.25382	0.0617	L	0.54323	1.7	0.23010	N	0.99844	P;B	0.36465	0.554;0.094	B;B	0.33620	0.167;0.023	T	0.42899	-0.9424	10	0.02654	T	1	.	17.5376	0.87837	0.0:1.0:0.0:0.0	.	362;529	E9PHT3;Q8IYS0	.;GRM1C_HUMAN	E	529;258;362;324;324	ENSP00000350881:Q529E;ENSP00000399844:Q258E;ENSP00000419132:Q362E;ENSP00000418302:Q324E;ENSP00000408135:Q324E	ENSP00000350881:Q529E	Q	+	1	0	GRAMD1C	115137931	0.942000	0.31987	0.996000	0.52242	0.824000	0.46624	4.995000	0.63908	2.882000	0.98803	0.655000	0.94253	CAG		0.428	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577		17	114	0	0	0	1	0	17	114				
SMARCA2	6595	broad.mit.edu	37	9	2058446	2058446	+	Silent	SNP	G	G	A			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr9:2058446G>A	ENST00000382203.1	+	8	1712	c.1503G>A	c.(1501-1503)gaG>gaA	p.E501E	SMARCA2_ENST00000382194.1_Silent_p.E501E|SMARCA2_ENST00000349721.2_Silent_p.E501E|SMARCA2_ENST00000357248.2_Silent_p.E501E			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	501	HSA. {ECO:0000255|PROSITE- ProRule:PRU00549}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TTGAAAAGGAGAGAATGCGGC	0.512																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(1501-1503)gaG>gaA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							114.0	100.0	105.0					9																	2058446		2203	4300	6503	SO:0001819	synonymous_variant	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2058446G>A	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.1503G>A	9.37:g.2058446G>A						SMARCA2_ENST00000382194.1_Silent_p.E501E|SMARCA2_ENST00000349721.2_Silent_p.E501E|SMARCA2_ENST00000357248.2_Silent_p.E501E	p.E501E			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	8	1712	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	501			HSA.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	c.1503G>A	CCDS34977.1																																																																																				0.512	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		17	133	0	0	0	1	0	17	133				
SALL1	6299	broad.mit.edu	37	16	51175382	51175382	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr16:51175382G>A	ENST00000251020.4	-	2	784	c.751C>T	c.(751-753)Cgt>Tgt	p.R251C	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.R154C|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000562674.1_5'Flank	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	251					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)	p.R251C(1)		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)			ATTTGGTGACGAATCTGTTCG	0.532																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			1	Substitution - Missense(1)	p.R251C(1)	lung(1)	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						c.(460-462)Cgt>Tgt		spalt-like transcription factor 1							85.0	88.0	87.0					16																	51175382		2198	4300	6498	SO:0001583	missense	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.chr16:51175382G>A	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.751C>T	16.37:g.51175382G>A	ENSP00000251020:p.Arg251Cys					SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.R251C	p.R154C	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	891	-		all_cancers(37;0.0322)	251			Poly-Ser.		Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.460C>T	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871584	0.72065	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.09350	3.02;2.99	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.29190	0.0726	L	0.48362	1.52	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00611	-1.1645	10	0.54805	T	0.06	.	19.11	0.93313	0.0:0.0:1.0:0.0	.	251	Q9NSC2	SALL1_HUMAN	C	251;154;215	ENSP00000251020:R251C;ENSP00000407914:R154C	ENSP00000251020:R251C	R	-	1	0	SALL1	49732883	1.000000	0.71417	0.475000	0.27278	0.971000	0.66376	9.850000	0.99511	2.493000	0.84123	0.561000	0.74099	CGT		0.532	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		14	120	0	0	0	1	0	14	120				
KGFLP2	654466	broad.mit.edu	37	9	41962620	41962620	+	lincRNA	SNP	G	G	A	rs62539357	byFrequency	TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr9:41962620G>A	ENST00000454645.1	-	0	884					NR_003670.1																						TCCTCTTACAGGAATCCCCTT	0.363																																						ENST00000454645.1																			0																																																			654466							g.chr9:41962620G>A																													9.37:g.41962620G>A								NR_003670.1						0	884	-									RNA	SNP	ENST00000454645.1	37																																																																																						0.363	RP11-204M4.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000143738.1			4	34	0	0	0	1	0	4	34				
KRTAP4-12	83755	broad.mit.edu	37	17	39279791	39279791	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr17:39279791C>T	ENST00000394014.1	-	1	628	c.584G>A	c.(583-585)tGc>tAc	p.C195Y		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	195						keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GGAGGCACAGCACAAGGGGCG	0.572																																						ENST00000394014.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(583-585)tGc>tAc		keratin associated protein 4-12							70.0	60.0	63.0					17																	39279791		2199	4295	6494	SO:0001583	missense	83755					keratin filament		g.chr17:39279791C>T	AJ406943	CCDS32649.1	17q21.2	2013-06-25			ENSG00000213416	ENSG00000213416		"""Keratin associated proteins"""	16776	protein-coding gene	gene with protein product						11279113	Standard	NM_031854		Approved	KAP4.12	uc002hwa.3	Q9BQ66	OTTHUMG00000133632	ENST00000394014.1:c.584G>A	17.37:g.39279791C>T	ENSP00000377582:p.Cys195Tyr						p.C195Y	NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	628	-		Breast(137;0.000496)	195					A3KMC5|Q495I0	Missense_Mutation	SNP	ENST00000394014.1	37	c.584G>A	CCDS32649.1	.	.	.	.	.	.	.	.	.	.	.	11.66	1.705996	0.30232	.	.	ENSG00000213416	ENST00000394014;ENST00000455597	T	0.00584	6.4	4.94	4.94	0.65067	.	1.902220	0.03439	U	0.209060	T	0.04363	0.0120	M	0.83012	2.62	0.43025	D	0.994585	D	0.89917	1.0	D	0.85130	0.997	T	0.03684	-1.1013	10	0.72032	D	0.01	.	14.0143	0.64515	0.0:1.0:0.0:0.0	.	195	Q9BQ66	KR412_HUMAN	Y	195;40	ENSP00000377582:C195Y	ENSP00000377582:C195Y	C	-	2	0	KRTAP4-12	36533317	0.919000	0.31177	0.998000	0.56505	0.029000	0.11900	1.933000	0.40153	2.467000	0.83353	0.462000	0.41574	TGC		0.572	KRTAP4-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257777.1			6	18	0	0	0	1	0	6	18				
ATXN1	6310	broad.mit.edu	37	6	16327921	16327921	+	Missense_Mutation	SNP	C	C	A	rs201030692		TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr6:16327921C>A	ENST00000244769.4	-	8	1557	c.621G>T	c.(619-621)caG>caT	p.Q207H	ATXN1_ENST00000436367.1_Missense_Mutation_p.Q207H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	207	Poly-Gln.				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)	p.Q207H(2)		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)				gctgatgctgctgctgctgct	0.662																																						ENST00000244769.4																			2	Substitution - Missense(2)	p.Q207H(2)	lung(1)|prostate(1)	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						c.(619-621)caG>caT		ataxin 1							5.0	8.0	7.0					6																	16327921		1605	3502	5107	SO:0001583	missense	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.chr6:16327921C>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.621G>T	6.37:g.16327921C>A	ENSP00000244769:p.Gln207His					ATXN1_ENST00000436367.1_Missense_Mutation_p.Q207H	p.Q207H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			8	1557	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	207			Poly-Gln.		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	c.621G>T	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	c	0.699	-0.791581	0.02884	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.56275	0.47;0.47	0.0465	-0.093	0.13652	.	.	.	.	.	T	0.07908	0.0198	N	0.08118	0	0.09310	N	1	D	0.54964	0.969	B	0.38106	0.265	T	0.21042	-1.0257	8	0.35671	T	0.21	.	.	.	.	.	207	P54253	ATX1_HUMAN	H	207	ENSP00000244769:Q207H;ENSP00000416360:Q207H	ENSP00000244769:Q207H	Q	-	3	2	ATXN1	16435900	0.128000	0.22383	0.017000	0.16124	0.068000	0.16541	-0.076000	0.11412	-1.412000	0.02030	-1.404000	0.01136	CAG		0.662	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		5	21	1	0	3.59834e-05	1	3.8663e-05	5	21				
ASXL3	80816	broad.mit.edu	37	18	31319576	31319576	+	Silent	SNP	C	C	G			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr18:31319576C>G	ENST00000269197.5	+	11	2208	c.2208C>G	c.(2206-2208)ctC>ctG	p.L736L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	736	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CCATGCTTCTCACCTCTGAGA	0.408																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(2206-2208)ctC>ctG		additional sex combs like 3 (Drosophila)							252.0	253.0	252.0					18																	31319576		1931	4146	6077	SO:0001819	synonymous_variant	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31319576C>G	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.2208C>G	18.37:g.31319576C>G							p.L736L	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			11	2208	+			736			Ser-rich.		Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	c.2208C>G	CCDS45847.1																																																																																				0.408	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			12	260	0	0	0	1	0	12	260				
ABR	29	broad.mit.edu	37	17	910416	910416	+	Missense_Mutation	SNP	C	C	T	rs111816976		TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr17:910416C>T	ENST00000302538.5	-	22	2625	c.2479G>A	c.(2479-2481)Gtc>Atc	p.V827I	ABR_ENST00000572441.1_Intron|ABR_ENST00000291107.2_Missense_Mutation_p.V790I|ABR_ENST00000543210.2_Missense_Mutation_p.V278I|ABR_ENST00000536794.2_Missense_Mutation_p.V609I|ABR_ENST00000544583.2_Missense_Mutation_p.V781I|ABR_ENST00000574437.1_Missense_Mutation_p.V781I	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	827	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		TGCGCCATGACGTCATGGGAC	0.662																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	ENST00000544583.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(2341-2343)Gtc>Atc		active BCR-related							135.0	106.0	116.0					17																	910416		2203	4300	6503	SO:0001583	missense	29				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr17:910416C>T	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.2479G>A	17.37:g.910416C>T	ENSP00000303909:p.Val827Ile					ABR_ENST00000291107.2_Missense_Mutation_p.V790I|ABR_ENST00000574437.1_Missense_Mutation_p.V781I|ABR_ENST00000572441.1_Intron|ABR_ENST00000543210.2_Missense_Mutation_p.V278I|ABR_ENST00000536794.2_Missense_Mutation_p.V609I|ABR_ENST00000302538.5_Missense_Mutation_p.V827I	p.V781I	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	22	2940	-			827			Rho-GAP.		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	ENST00000302538.5	37	c.2341G>A	CCDS10999.1	.	.	.	.	.	.	.	.	.	.	C	34	5.299934	0.95574	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000536794;ENST00000543210	T;T;T;T;T	0.24723	1.85;1.88;1.84;3.1;2.95	6.17	6.17	0.99709	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.47488	0.1448	L	0.50333	1.59	0.50632	D	0.999888	D;D;D;D;D	0.76494	0.999;0.998;0.998;0.999;0.995	D;D;D;P;P	0.73708	0.929;0.981;0.981;0.899;0.76	T	0.17776	-1.0358	10	0.56958	D	0.05	.	18.3732	0.90420	0.0:1.0:0.0:0.0	.	609;278;790;737;827	B7Z683;F5H3S2;Q12979-2;B7Z2X0;Q12979	.;.;.;.;ABR_HUMAN	I	827;781;790;609;278	ENSP00000303909:V827I;ENSP00000442048:V781I;ENSP00000291107:V790I;ENSP00000437429:V609I;ENSP00000445198:V278I	ENSP00000291107:V790I	V	-	1	0	ABR	857166	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	7.811000	0.86092	2.941000	0.99782	0.655000	0.94253	GTC		0.662	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			6	87	0	0	0	1	0	6	87				
PMS2P3	5387	broad.mit.edu	37	7	75157034	75157034	+	RNA	SNP	C	C	T			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr7:75157034C>T	ENST00000418756.1	-	0	419					NR_028059.1		Q13401	PM2P3_HUMAN	postmeiotic segregation increased 2 pseudogene 3						mismatch repair (GO:0006298)|regulation of transcription, DNA-templated (GO:0006355)	mismatch repair complex (GO:0032300)	nucleic acid binding (GO:0003676)			lung(1)	1						GGGCCCGGGCCGGGCCTACGG	0.721																																					NSCLC(70;602 1339 5301 18528 38453)	ENST00000418756.1																			0				lung(1)	1															6.0	7.0	6.0					7																	75157034		857	1929	2786			5387							g.chr7:75157034C>T	D38437		7q11.23	2010-10-26	2010-10-26	2010-10-26	ENSG00000127957	ENSG00000127957			9128	pseudogene	pseudogene			"""postmeiotic segregation increased 2-like 3"", ""postmeiotic segregation increased 2-like 3, pseudogene"""	PMS2L9, PMS2L3		8586419	Standard	NR_028059		Approved	PMS5, PMSR3	uc022agi.1	Q13401	OTTHUMG00000156049		7.37:g.75157034C>T								NR_028059.1						0	419	-								A6NG70|Q3MJ29	RNA	SNP	ENST00000418756.1	37																																																																																						0.721	PMS2P3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000342862.2	NR_028059		4	11	0	0	0	1	0	4	11				
PCDHA9	9752	broad.mit.edu	37	5	140230586	140230586	+	Intron	SNP	C	C	G			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr5:140230586C>G	ENST00000532602.1	+	1	3427				PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.Q836E|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAATCCAGCAGATTTTTTT	0.274																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(2506-2508)Cag>Gag									67.0	79.0	75.0					5																	140230586		2112	4206	6318	SO:0001627	intron_variant	9752							g.chr5:140230586C>G	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2394+112C>G	5.37:g.140230586C>G						PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron	p.Q836E	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	3230	+								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.2506C>G	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	8.227	0.803858	0.16467	.	.	ENSG00000204961	ENST00000378122	T	0.50001	0.76	1.43	-2.81	0.05805	.	.	.	.	.	T	0.16428	0.0395	.	.	.	0.09310	N	1	B	0.16396	0.017	B	0.10450	0.005	T	0.23619	-1.0183	8	0.05721	T	0.95	.	2.1402	0.03772	0.4456:0.3339:0.0:0.2206	.	836	Q9Y5H5-2	.	E	836	ENSP00000367362:Q836E	ENSP00000367362:Q836E	Q	+	1	0	PCDHA9	140210770	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	-0.720000	0.04969	-0.776000	0.04578	0.436000	0.28706	CAG		0.274	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		24	179	0	0	0	1	0	24	179				
TEP1	7011	broad.mit.edu	37	14	20836706	20836706	+	Nonsense_Mutation	SNP	G	G	A	rs151082585	byFrequency	TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr14:20836706G>A	ENST00000262715.5	-	55	7814	c.7774C>T	c.(7774-7776)Cga>Tga	p.R2592*	TEP1_ENST00000556935.1_Nonsense_Mutation_p.R2484*	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2592					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCTTCGCATCGGAACAGGCCC	0.502													G|||	4	0.000798722	0.003	0.0	5008	,	,		16112	0.0		0.0	False		,,,				2504	0.0					ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(7774-7776)Cga>Tga		telomerase-associated protein 1		G	stop/ARG	0,4406		0,0,2203	63.0	55.0	58.0		7774	4.9	1.0	14	dbSNP_134	58	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	TEP1	NM_007110.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		2592/2628	20836706	1,13005	2203	4300	6503	SO:0001587	stop_gained	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20836706G>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.7774C>T	14.37:g.20836706G>A	ENSP00000262715:p.Arg2592*					TEP1_ENST00000556935.1_Nonsense_Mutation_p.R2484*	p.R2592*	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	55	7814	-	all_cancers(95;0.00123)	all_lung(585;0.235)	2592					A0AUV9	Nonsense_Mutation	SNP	ENST00000262715.5	37	c.7774C>T	CCDS9548.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	48	14.393402	0.99793	0.0	1.16E-4	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	.	.	.	5.81	4.93	0.64822	.	0.641054	0.15469	N	0.260695	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-1.2303	12.4315	0.55577	0.0788:0.0:0.9212:0.0	.	.	.	.	X	2592;2584;2484	.	ENSP00000262715:R2592X	R	-	1	2	TEP1	19906546	0.998000	0.40836	0.956000	0.39512	0.847000	0.48162	3.457000	0.53007	1.485000	0.48380	-0.191000	0.12829	CGA		0.502	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		11	60	0	0	0	1	0	11	60				
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	lincRNA	SNP	C	C	T			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803543C>T																													1.37:g.142803543C>T														0	1422	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			4	139	0	0	0	1	0	4	139				
NEB	4703	broad.mit.edu	37	2	152420376	152420376	+	Silent	SNP	G	G	T			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr2:152420376G>T	ENST00000172853.10	-	90	13584	c.13437C>A	c.(13435-13437)ccC>ccA	p.P4479P	NEB_ENST00000397345.3_Silent_p.P6180P|NEB_ENST00000409198.1_Silent_p.P4479P|NEB_ENST00000427231.2_Silent_p.P6180P|NEB_ENST00000604864.1_Silent_p.P6180P|NEB_ENST00000603639.1_Silent_p.P6180P			P20929	NEBU_HUMAN	nebulin	4479					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCCAACAATGGGAATGTAGC	0.483																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(18538-18540)ccC>ccA		nebulin							76.0	77.0	76.0					2																	152420376		1981	4181	6162	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152420376G>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.13437C>A	2.37:g.152420376G>T						NEB_ENST00000427231.2_Silent_p.P6180P|NEB_ENST00000409198.1_Silent_p.P4479P|NEB_ENST00000604864.1_Silent_p.P6180P|NEB_ENST00000172853.10_Silent_p.P4479P|NEB_ENST00000603639.1_Silent_p.P6180P	p.P6180P	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	118	18742	-			6169					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.18540C>A																																																																																					0.483	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		3	37	1	0	0.115264	1	0.116417	3	37				
ZIC3	7547	broad.mit.edu	37	X	136649867	136649867	+	Silent	SNP	T	T	C			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chrX:136649867T>C	ENST00000287538.5	+	1	1567	c.1017T>C	c.(1015-1017)ttT>ttC	p.F339F	ZIC3_ENST00000370606.3_Silent_p.F339F	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	339	Nuclear localization signal.				anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					GGAAGATCTTTGCCCGTTCTG	0.587																																						ENST00000287538.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37						c.(1015-1017)ttT>ttC		Zic family member 3							62.0	66.0	64.0					X																	136649867		2201	4296	6497	SO:0001819	synonymous_variant	7547				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:136649867T>C	AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.1017T>C	X.37:g.136649867T>C						ZIC3_ENST00000370606.3_Silent_p.F339F	p.F339F	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN			1	1567	+	Acute lymphoblastic leukemia(192;0.000127)		339			Nuclear localization signal.		B2CNW4|Q14DE5|Q5JY75	Silent	SNP	ENST00000287538.5	37	c.1017T>C	CCDS14663.1																																																																																				0.587	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			8	159	0	0	0	1	0	8	159				
GFRA3	2676	broad.mit.edu	37	5	137593486	137593486	+	Silent	SNP	C	C	T			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr5:137593486C>T	ENST00000274721.3	-	4	873	c.627G>A	c.(625-627)gaG>gaA	p.E209E	GFRA3_ENST00000378362.3_Silent_p.E178E	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	209					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)			GCGCGTGGGGCTCGGCGGCCT	0.731																																						ENST00000274721.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12						c.(625-627)gaG>gaA		GDNF family receptor alpha 3							20.0	22.0	21.0					5																	137593486		2192	4286	6478	SO:0001819	synonymous_variant	2676				peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding	g.chr5:137593486C>T	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.627G>A	5.37:g.137593486C>T						GFRA3_ENST00000378362.3_Silent_p.E178E	p.E209E	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		4	873	-			209					B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Silent	SNP	ENST00000274721.3	37	c.627G>A	CCDS4201.1																																																																																				0.731	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251277.1	NM_001496		13	58	0	0	0	1	0	13	58				
OR5M9	390162	broad.mit.edu	37	11	56230199	56230199	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr11:56230199G>A	ENST00000279791.1	-	1	678	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	227						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(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TCGGCAGAGCGCATGCGTAGC	0.488																																						ENST00000279791.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36						c.(679-681)Cgc>Tgc		olfactory receptor, family 5, subfamily M, member 9							62.0	59.0	60.0					11																	56230199		2201	4296	6497	SO:0001583	missense	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230199G>A	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"""GPCR / Class A : Olfactory receptors"""	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.679C>T	11.37:g.56230199G>A	ENSP00000279791:p.Arg227Cys						p.R227C	NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN			1	678	-	Esophageal squamous(21;0.00448)		227					Q6IEW5|Q96RB9	Missense_Mutation	SNP	ENST00000279791.1	37	c.679C>T	CCDS31531.1	.	.	.	.	.	.	.	.	.	.	G	3.359	-0.130915	0.06753	.	.	ENSG00000150269	ENST00000279791	T	0.40225	1.04	4.39	4.39	0.52855	GPCR, rhodopsin-like superfamily (1);	0.791679	0.10894	N	0.622411	T	0.45458	0.1343	M	0.76433	2.335	0.09310	N	1	B	0.15719	0.014	B	0.13407	0.009	T	0.38329	-0.9666	10	0.56958	D	0.05	0.5555	10.8318	0.46665	0.0:0.1924:0.8076:0.0	.	227	Q8NGP3	OR5M9_HUMAN	C	227	ENSP00000279791:R227C	ENSP00000279791:R227C	R	-	1	0	OR5M9	55986775	0.000000	0.05858	0.151000	0.22473	0.005000	0.04900	0.304000	0.19228	2.160000	0.67779	0.542000	0.68232	CGC		0.488	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		4	29	0	0	0	1	0	4	29				
SYNE2	23224	broad.mit.edu	37	14	64467347	64467347	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr14:64467347A>T	ENST00000344113.4	+	28	3760	c.3548A>T	c.(3547-3549)cAt>cTt	p.H1183L	SYNE2_ENST00000357395.3_De_novo_Start_OutOfFrame|SYNE2_ENST00000554584.1_Missense_Mutation_p.H1183L|SYNE2_ENST00000358025.3_Missense_Mutation_p.H1183L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1183					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTAGAAAATCATGTGAATGAC	0.303																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224								spectrin repeat containing, nuclear envelope 2							88.0	85.0	86.0					14																	64467347		1805	4063	5868	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64467347A>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.3548A>T	14.37:g.64467347A>T	ENSP00000341781:p.His1183Leu					SYNE2_ENST00000358025.3_Missense_Mutation_p.H1183L|SYNE2_ENST00000344113.4_Missense_Mutation_p.H1183L|SYNE2_ENST00000554584.1_Missense_Mutation_p.H1183L				Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	0	3778	+								Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Translation_Start_Site	SNP	ENST00000344113.4	37		CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	0.876	-0.730250	0.03135	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.52526	1.05;1.05;0.66	5.86	0.374	0.16183	.	0.680565	0.13395	N	0.391041	T	0.11153	0.0272	N	0.00368	-1.59	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35674	-0.9779	10	0.02654	T	1	.	7.3967	0.26939	0.2377:0.0:0.36:0.4023	.	1183;1183	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	L	1183	ENSP00000350719:H1183L;ENSP00000341781:H1183L;ENSP00000452570:H1183L	ENSP00000261678:H1183L	H	+	2	0	SYNE2	63537100	0.977000	0.34250	0.002000	0.10522	0.118000	0.20060	1.355000	0.34068	-0.083000	0.12618	-1.583000	0.00853	CAT		0.303	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		14	61	0	0	0	1	0	14	61				
CHIA	27159	broad.mit.edu	37	1	111862863	111862863	+	Silent	SNP	G	G	A	rs199879175		TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr1:111862863G>A	ENST00000369740.1	+	12	1309	c.1206G>A	c.(1204-1206)gaG>gaA	p.E402E	CHIA_ENST00000343320.6_Silent_p.E402E|CHIA_ENST00000483391.1_Silent_p.E241E|CHIA_ENST00000430615.1_Silent_p.E294E|CHIA_ENST00000353665.6_Silent_p.E241E|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000451398.2_Silent_p.E241E	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	402					apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		AGCCCATTGAGCCAATAACTG	0.582													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18725	0.0		0.0	False		,,,				2504	0.0					ENST00000369740.1																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23						c.(1204-1206)gaG>gaA		chitinase, acidic							64.0	64.0	64.0					1																	111862863		2203	4300	6503	SO:0001819	synonymous_variant	27159				apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding	g.chr1:111862863G>A	AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.1206G>A	1.37:g.111862863G>A						CHIA_ENST00000430615.1_Silent_p.E294E|CHIA_ENST00000483391.1_Silent_p.E241E|CHIA_ENST00000451398.2_Silent_p.E241E|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000343320.6_Silent_p.E402E|CHIA_ENST00000353665.6_Silent_p.E241E	p.E402E	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)	12	1309	+		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)	402					Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Silent	SNP	ENST00000369740.1	37	c.1206G>A	CCDS41368.1																																																																																				0.582	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1			19	72	0	0	0	1	0	19	72				
MON1A	84315	broad.mit.edu	37	3	49948253	49948253	+	Silent	SNP	C	C	T			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr3:49948253C>T	ENST00000417270.1	-	5	1395	c.702G>A	c.(700-702)cgG>cgA	p.R234R	MON1A_ENST00000455683.2_Silent_p.R161R|MON1A_ENST00000483022.1_5'Flank|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000296473.3_Silent_p.R323R			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	226										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GTGCCGACTGCCGCGTACGAG	0.592																																						ENST00000417270.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13						c.(700-702)cgG>cgA		MON1 secretory trafficking family member A							29.0	30.0	29.0					3																	49948253		2203	4300	6503	SO:0001819	synonymous_variant	84315						protein binding	g.chr3:49948253C>T	AK074404	CCDS2808.2, CCDS46830.1	3p21.31	2013-08-21	2013-08-21		ENSG00000164077	ENSG00000164077			28207	protein-coding gene	gene with protein product		611464	"""MON1 homolog A (yeast)"""			12477932	Standard	NM_032355		Approved	MGC13272, SAND1	uc003cxz.3	Q86VX9	OTTHUMG00000156737	ENST00000417270.1:c.702G>A	3.37:g.49948253C>T						MON1A_ENST00000296473.3_Silent_p.R323R|MON1A_ENST00000455683.2_Silent_p.R161R|CTD-2330K9.3_ENST00000419183.1_Intron	p.R234R			Q86VX9	MON1A_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	5	1395	-			226					B2RDQ1|G5E9N1|Q8NAV7|Q9BRF3	Silent	SNP	ENST00000417270.1	37	c.702G>A																																																																																					0.592	MON1A-005	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000345538.2	NM_032355		3	36	0	0	0	1	0	3	36				
CASS4	57091	broad.mit.edu	37	20	55027486	55027486	+	Silent	SNP	C	C	T	rs371583650	byFrequency	TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr20:55027486C>T	ENST00000360314.3	+	6	1479	c.1254C>T	c.(1252-1254)acC>acT	p.T418T	CASS4_ENST00000434344.1_Intron|CASS4_ENST00000371336.3_Silent_p.T418T	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	418	Ser-rich.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CCACATCCACCGACGACTCCT	0.567													C|||	2	0.000399361	0.0	0.0	5008	,	,		20551	0.0		0.0	False		,,,				2504	0.002					ENST00000371336.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						c.(1252-1254)acC>acT		Cas scaffolding protein family member 4							51.0	44.0	46.0					20																	55027486		2203	4300	6503	SO:0001819	synonymous_variant	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55027486C>T	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.1254C>T	20.37:g.55027486C>T						CASS4_ENST00000434344.1_Intron|CASS4_ENST00000360314.3_Silent_p.T418T	p.T418T	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN			5	1455	+			418			Ser-rich.		E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Silent	SNP	ENST00000360314.3	37	c.1254C>T	CCDS33492.1																																																																																				0.567	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		3	41	0	0	0	1	0	3	41				
GRID2	2895	broad.mit.edu	37	4	94376882	94376882	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr4:94376882C>A	ENST00000282020.4	+	11	1873	c.1615C>A	c.(1615-1617)Cgt>Agt	p.R539S	GRID2_ENST00000510992.1_Missense_Mutation_p.R444S	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	539					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.R539C(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		CTTTACGACACGTTACATGGA	0.438																																						ENST00000282020.4																			1	Substitution - Missense(1)	p.R539C(1)	endometrium(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1615-1617)Cgt>Agt		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						155.0	140.0	145.0					4																	94376882		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94376882C>A	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1615C>A	4.37:g.94376882C>A	ENSP00000282020:p.Arg539Ser					GRID2_ENST00000510992.1_Missense_Mutation_p.R444S	p.R539S	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	11	1873	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	539					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.1615C>A	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710842	0.89112	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.25912	1.77;1.77	5.97	5.97	0.96955	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.44393	0.1291	L	0.31845	0.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.20371	-1.0277	10	0.59425	D	0.04	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	444;539	E9PH24;O43424	.;GRID2_HUMAN	S	539;444	ENSP00000282020:R539S;ENSP00000421257:R444S	ENSP00000282020:R539S	R	+	1	0	GRID2	94595905	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.836000	0.97738	0.655000	0.94253	CGT		0.438	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			7	110	1	0	2.0095e-06	1	2.20608e-06	7	110				
ZNF813	126017	broad.mit.edu	37	19	53995284	53995284	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr19:53995284C>A	ENST00000396403.4	+	4	1926	c.1798C>A	c.(1798-1800)Ctt>Att	p.L600I	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	600					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		TCATCATAGACTTCATACTGG	0.368																																						ENST00000396403.4																			0				large_intestine(1)	1						c.(1798-1800)Ctt>Att		zinc finger protein 813							36.0	38.0	37.0					19																	53995284		2188	4290	6478	SO:0001583	missense	126017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53995284C>A	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.1798C>A	19.37:g.53995284C>A	ENSP00000379684:p.Leu600Ile					ZNF813_ENST00000396421.4_Intron	p.L600I	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	4	1926	+			600						Missense_Mutation	SNP	ENST00000396403.4	37	c.1798C>A	CCDS46172.1	.	.	.	.	.	.	.	.	.	.	c	0.012	-1.661069	0.00772	.	.	ENSG00000198346	ENST00000396403	T	0.11495	2.77	1.28	-0.231	0.13086	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.12422	0.21	0.09310	N	0.999995	B	0.09022	0.002	B	0.17979	0.02	T	0.45071	-0.9286	9	0.02654	T	1	.	5.756	0.18172	0.7181:0.2819:0.0:0.0	.	600	Q6ZN06	ZN813_HUMAN	I	600	ENSP00000379684:L600I	ENSP00000379684:L600I	L	+	1	0	ZNF813	58687096	0.000000	0.05858	0.002000	0.10522	0.306000	0.27790	0.221000	0.17680	-0.679000	0.05217	0.187000	0.17357	CTT		0.368	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		3	36	1	0	0.115264	1	0.116417	3	36				
POPDC3	64208	broad.mit.edu	37	6	105607694	105607694	+	Splice_Site	SNP	C	C	A			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr6:105607694C>A	ENST00000254765.3	-	3	764	c.486G>T	c.(484-486)agG>agT	p.R162S	POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000369120.2_RNA|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	162					regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				TCACTCTGATCCTATCAAAAC	0.463																																						ENST00000254765.3																			0				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26						c.e3-1		popeye domain containing 3							75.0	63.0	67.0					6																	105607694		2203	4300	6503	SO:0001630	splice_region_variant	64208					integral to membrane		g.chr6:105607694C>A	BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.486-1G>T	6.37:g.105607694C>A						BVES-AS1_ENST00000580854.1_RNA|POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000369122.3_RNA	p.R162_splice	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN			3	764	-		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)	162					B2RA98|Q5T3Y8|Q8TBW6	Splice_Site	SNP	ENST00000254765.3	37	c.485_splice	CCDS5052.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619050	0.66787	.	.	ENSG00000132429	ENST00000254765;ENST00000429112	T;T	0.35236	1.32;1.32	4.53	3.66	0.41972	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.85682	D	0.000000	T	0.23451	0.0567	M	0.70275	2.135	0.58432	D	0.999998	B	0.33883	0.43	B	0.31869	0.137	T	0.11591	-1.0581	10	0.49607	T	0.09	.	12.8997	0.58119	0.0:0.9191:0.0:0.0809	.	162	Q9HBV1	POPD3_HUMAN	S	162;8	ENSP00000254765:R162S;ENSP00000414409:R8S	ENSP00000254765:R162S	R	-	3	2	POPDC3	105714387	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	1.494000	0.35616	1.211000	0.43351	0.591000	0.81541	AGG		0.463	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041651.1	NM_022361	Missense_Mutation	4	46	1	0	0.00909568	1	0.00937412	4	46				
TP53	7157	broad.mit.edu	37	17	7578479	7578479	+	Missense_Mutation	SNP	G	G	A	rs28934874|rs137852790|rs137852791		TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr17:7578479G>A	ENST00000269305.4	-	5	640	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	TP53_ENST00000413465.2_Missense_Mutation_p.P151S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.P151S|TP53_ENST00000420246.2_Missense_Mutation_p.P151S|TP53_ENST00000445888.2_Missense_Mutation_p.P151S|TP53_ENST00000359597.4_Missense_Mutation_p.P151S	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	151	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874). {ECO:0000269|PubMed:7682763}.|P -> T (in LFS; germline mutation and 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.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(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)	CCGGGCGGGGGTGTGGAATCA	0.612		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)	ENST00000420246.2		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"""		156	Substitution - Missense(107)|Deletion - Frameshift(23)|Whole gene deletion(8)|Deletion - In frame(7)|Insertion - Frameshift(6)|Unknown(5)	p.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(1)	upper_aerodigestive_tract(20)|large_intestine(17)|ovary(16)|lung(15)|oesophagus(12)|endometrium(11)|stomach(9)|breast(9)|central_nervous_system(7)|liver(7)|skin(7)|haematopoietic_and_lymphoid_tissue(5)|soft_tissue(4)|urinary_tract(4)|prostate(4)|bone(4)|vulva(2)|pancreas(2)|biliary_tract(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	GRCh37	CM012662|CM941326	TP53	M	rs28934874	c.(451-453)Ccc>Tcc	Other conserved DNA damage response genes	tumor protein p53							55.0	55.0	55.0					17																	7578479		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578479G>A	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.451C>T	17.37:g.7578479G>A	ENSP00000269305:p.Pro151Ser	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_ENST00000455263.2_Missense_Mutation_p.P151S|TP53_ENST00000269305.4_Missense_Mutation_p.P151S|TP53_ENST00000359597.4_Missense_Mutation_p.P151S|TP53_ENST00000445888.2_Missense_Mutation_p.P151S|TP53_ENST00000413465.2_Missense_Mutation_p.P151S	p.P151S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	583	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	151		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Missense_Mutation	SNP	ENST00000269305.4	37	c.451C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460739	0.63513	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99881	-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110207	0.64402	D	0.000007	D	0.99894	0.9949	M	0.87038	2.855	0.54753	D	0.999985	D;P;P;P;D;P;D	0.89917	0.99;0.941;0.92;0.835;0.98;0.953;1.0	P;P;P;P;P;P;D	0.97110	0.793;0.749;0.814;0.652;0.837;0.837;1.0	D	0.96419	0.9310	10	0.87932	D	0	-14.1156	17.4784	0.87667	0.0:0.0:1.0:0.0	rs28934874	112;151;151;58;151;151;151	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	151;151;151;151;151;151;140;58;19;58;19;151	ENSP00000410739:P151S;ENSP00000352610:P151S;ENSP00000269305:P151S;ENSP00000398846:P151S;ENSP00000391127:P151S;ENSP00000391478:P151S;ENSP00000425104:P19S;ENSP00000423862:P58S;ENSP00000424104:P151S	ENSP00000269305:P151S	P	-	1	0	TP53	7519204	1.000000	0.71417	0.971000	0.41717	0.067000	0.16453	7.823000	0.86660	2.804000	0.96469	0.655000	0.94253	CCC		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		29	61	0	0	0	1	0	29	61				
IL17RD	54756	broad.mit.edu	37	3	57131801	57131801	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr3:57131801G>T	ENST00000296318.7	-	12	2018	c.1930C>A	c.(1930-1932)Caa>Aaa	p.Q644K	IL17RD_ENST00000320057.5_Missense_Mutation_p.Q500K|IL17RD_ENST00000463523.1_Missense_Mutation_p.Q500K|IL17RD_ENST00000427856.2_Missense_Mutation_p.Q620K	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	644					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		AGCAGGGGTTGCAGGGCGGCG	0.682																																						ENST00000296318.7																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16						c.(1930-1932)Caa>Aaa		interleukin 17 receptor D							20.0	23.0	22.0					3																	57131801		2202	4299	6501	SO:0001583	missense	54756					Golgi membrane|integral to membrane|plasma membrane	receptor activity	g.chr3:57131801G>T	AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"""Interleukins and interleukin receptors"""	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.1930C>A	3.37:g.57131801G>T	ENSP00000296318:p.Gln644Lys					IL17RD_ENST00000463523.1_Missense_Mutation_p.Q500K|IL17RD_ENST00000427856.2_Missense_Mutation_p.Q620K|IL17RD_ENST00000320057.5_Missense_Mutation_p.Q500K	p.Q644K	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)	12	2018	-			644					Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Missense_Mutation	SNP	ENST00000296318.7	37	c.1930C>A	CCDS2880.2	.	.	.	.	.	.	.	.	.	.	G	9.498	1.102428	0.20632	.	.	ENSG00000144730	ENST00000296318;ENST00000320057;ENST00000427856;ENST00000463523	T;T;T;T	0.09723	2.95;2.96;2.95;2.96	5.55	4.68	0.58851	.	0.700703	0.14530	N	0.313897	T	0.10078	0.0247	L	0.29908	0.895	0.22226	N	0.999277	B;B;B	0.23442	0.085;0.02;0.034	B;B;B	0.18561	0.016;0.006;0.022	T	0.19582	-1.0301	10	0.41790	T	0.15	-4.9248	14.241	0.65956	0.0716:0.0:0.9284:0.0	.	500;644;620	B4DXM5;Q8NFM7;Q8NFM7-3	.;I17RD_HUMAN;.	K	644;500;620;500	ENSP00000296318:Q644K;ENSP00000322250:Q500K;ENSP00000399209:Q620K;ENSP00000417516:Q500K	ENSP00000296318:Q644K	Q	-	1	0	IL17RD	57106841	1.000000	0.71417	0.297000	0.24988	0.095000	0.18619	5.998000	0.70653	1.350000	0.45770	0.591000	0.81541	CAA		0.682	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316680.1	NM_017563		3	29	1	0	0.004672	1	0.00486466	3	29				
MTTP	4547	broad.mit.edu	37	4	100534246	100534246	+	Silent	SNP	C	C	T			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr4:100534246C>T	ENST00000265517.5	+	15	2369	c.2166C>T	c.(2164-2166)ggC>ggT	p.G722G	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000457717.1_Silent_p.G722G|MTTP_ENST00000511045.1_Silent_p.G749G			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	722					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	CAGCATCTGGCGACCCTATCA	0.423																																						ENST00000457717.1																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57						c.(2164-2166)ggC>ggT		microsomal triglyceride transfer protein	Hesperetin(DB01094)						159.0	140.0	146.0					4																	100534246		2203	4300	6503	SO:0001819	synonymous_variant	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100534246C>T		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.2166C>T	4.37:g.100534246C>T						MTTP_ENST00000511045.1_Silent_p.G749G|MTTP_ENST00000265517.5_Silent_p.G722G|RP11-766F14.1_ENST00000508578.1_RNA	p.G722G	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	16	2422	+			722					A8K428|Q08AM4|Q6P5T3	Silent	SNP	ENST00000265517.5	37	c.2166C>T	CCDS3651.1																																																																																				0.423	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			13	43	0	0	0	1	0	13	43				
SLC45A1	50651	broad.mit.edu	37	1	8399557	8399557	+	Silent	SNP	C	C	T			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr1:8399557C>T	ENST00000471889.1	+	8	2164	c.1779C>T	c.(1777-1779)atC>atT	p.I593I	SLC45A1_ENST00000377479.2_Silent_p.I627I|SLC45A1_ENST00000289877.8_Silent_p.I593I			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	593					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CCGCAGCTATCCTGGAGAAGC	0.652																																						ENST00000471889.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33						c.(1777-1779)atC>atT		solute carrier family 45, member 1							94.0	81.0	85.0					1																	8399557		2203	4300	6503	SO:0001819	synonymous_variant	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8399557C>T	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1779C>T	1.37:g.8399557C>T						SLC45A1_ENST00000377479.2_Silent_p.I627I|SLC45A1_ENST00000289877.8_Silent_p.I593I	p.I593I			Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	8	2164	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	593					Q5VY46|Q5VY49	Silent	SNP	ENST00000471889.1	37	c.1779C>T	CCDS30577.1																																																																																				0.652	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			11	87	0	0	0	1	0	11	87				
HLA-B	3106	broad.mit.edu	37	6	31324917	31324917	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr6:31324917G>A	ENST00000412585.2	-	1	47	c.19C>T	c.(19-21)Cga>Tga	p.R7*		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	7					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						AGGACGGTTCGGGGCGCCATG	0.682									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													ENST00000412585.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						c.(19-21)Cga>Tga		major histocompatibility complex, class I, B							14.0	12.0	13.0					6																	31324917		2100	4078	6178	SO:0001587	stop_gained	3106	Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	;Lichen Sclerosis, Familial				g.chr6:31324917G>A	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.19C>T	6.37:g.31324917G>A	ENSP00000399168:p.Arg7*						p.R7*	NM_005514.6	NP_005505.2					1	47	-								Q29764	Nonsense_Mutation	SNP	ENST00000412585.2	37	c.19C>T	CCDS34394.1	.	.	.	.	.	.	.	.	.	.	N	18.82	3.705596	0.68615	.	.	ENSG00000234745	ENST00000412585	.	.	.	3.34	0.474	0.16768	.	5.945680	0.01256	U	0.009039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.23	0.06745	0.2623:0.227:0.5107:0.0	.	.	.	.	X	7	.	ENSP00000399168:R7X	R	-	1	2	HLA-B	31432896	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-0.153000	0.10144	0.244000	0.21351	0.442000	0.29010	CGA		0.682	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		7	30	0	0	0	1	0	7	30				
OLFM1	10439	broad.mit.edu	37	9	137998599	137998599	+	Silent	SNP	C	C	T			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr9:137998599C>T	ENST00000371793.3	+	5	932	c.681C>T	c.(679-681)tgC>tgT	p.C227C	OLFM1_ENST00000252854.4_Silent_p.C209C|OLFM1_ENST00000371796.3_Silent_p.C200C	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	227	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		TTCCAGCTTGCGGGAAGTTGA	0.647																																						ENST00000252854.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21						c.(625-627)tgC>tgT		olfactomedin 1							64.0	54.0	57.0					9																	137998599		2202	4300	6502	SO:0001819	synonymous_variant	10439				nervous system development	endoplasmic reticulum lumen	protein binding	g.chr9:137998599C>T	AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"""pancortin"""	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.681C>T	9.37:g.137998599C>T						OLFM1_ENST00000371796.3_Silent_p.C200C|OLFM1_ENST00000371793.3_Silent_p.C227C	p.C209C	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)	5	814	+		Myeloproliferative disorder(178;0.0333)	227					Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Silent	SNP	ENST00000371793.3	37	c.627C>T																																																																																					0.647	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	NM_014279		7	23	0	0	0	1	0	7	23				
ONECUT1	3175	broad.mit.edu	37	15	53049960	53049960	+	Missense_Mutation	SNP	C	C	T	rs200829865		TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr15:53049960C>T	ENST00000305901.5	-	2	1317	c.1190G>A	c.(1189-1191)cGt>cAt	p.R397H	ONECUT1_ENST00000561401.2_5'UTR|ONECUT1_ENST00000560699.2_Missense_Mutation_p.V38I	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	397					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		TAGAGTTCGACGCTGGACATC	0.468																																						ENST00000305901.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17						c.(1189-1191)cGt>cAt		one cut homeobox 1							227.0	221.0	223.0					15																	53049960		2194	4293	6487	SO:0001583	missense	3175				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr15:53049960C>T	U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"""Homeoboxes / CUT class"""	8138	protein-coding gene	gene with protein product		604164	"""one cut domain, family member 1"""	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.1190G>A	15.37:g.53049960C>T	ENSP00000302630:p.Arg397His					ONECUT1_ENST00000561401.2_5'UTR|ONECUT1_ENST00000560699.2_Missense_Mutation_p.V38I	p.R397H	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN		all cancers(107;0.0708)	2	1317	-			397					B2RTV4|Q99744|Q9UMR6	Missense_Mutation	SNP	ENST00000305901.5	37	c.1190G>A	CCDS10150.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.575980	0.45902	.	.	ENSG00000169856	ENST00000305901	D	0.96232	-3.95	6.16	6.16	0.99307	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98544	0.9514	M	0.90198	3.095	0.32045	N	0.597729	D	0.69078	0.997	D	0.76575	0.988	D	0.98498	1.0613	10	0.87932	D	0	-9.1164	19.848	0.96722	0.0:1.0:0.0:0.0	.	397	Q9UBC0	HNF6_HUMAN	H	397	ENSP00000302630:R397H	ENSP00000302630:R397H	R	-	2	0	ONECUT1	50837252	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	CGT		0.468	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2			25	193	0	0	0	1	0	25	193				
SRGAP3	9901	broad.mit.edu	37	3	9027468	9027468	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr3:9027468G>T	ENST00000383836.3	-	22	3462	c.3035C>A	c.(3034-3036)cCc>cAc	p.P1012H	SRGAP3_ENST00000360413.3_Missense_Mutation_p.P988H	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	1012					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GGTGTGAAGGGGACTGGCGGG	0.672			T	RAF1	pilocytic astrocytoma																																	ENST00000383836.3				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(3034-3036)cCc>cAc		SLIT-ROBO Rho GTPase activating protein 3							41.0	51.0	48.0					3																	9027468		2203	4299	6502	SO:0001583	missense	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9027468G>T	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.3035C>A	3.37:g.9027468G>T	ENSP00000373347:p.Pro1012His					SRGAP3_ENST00000360413.3_Missense_Mutation_p.P988H	p.P1012H	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	22	3462	-			1012					Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	37	c.3035C>A	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125405	0.77436	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	T;T	0.46451	0.87;1.26	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	L	0.60455	1.87	0.58432	D	0.999994	D;D	0.71674	0.998;0.997	P;P	0.59889	0.865;0.737	T	0.61898	-0.6968	10	0.72032	D	0.01	.	18.7053	0.91635	0.0:0.0:1.0:0.0	.	988;1012	O43295-2;O43295	.;SRGP2_HUMAN	H	1012;988	ENSP00000373347:P1012H;ENSP00000353587:P988H	ENSP00000353587:P988H	P	-	2	0	SRGAP3	9002468	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.808000	0.99193	2.509000	0.84616	0.563000	0.77884	CCC		0.672	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			14	67	1	0	7.81268e-19	1	9.39382e-19	14	67				
LOC101928372	101928372	broad.mit.edu	37	1	160905975	160905975	+	lincRNA	DEL	T	T	-	rs368373384	byFrequency	TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr1:160905975delT	ENST00000427339.1	-	0	0				RP11-544M22.1_ENST00000356006.3_RNA																							cttcttcttcttttttttttt	0.393													|||unknown(HR)	181	0.0361422	0.1278	0.0144	5008	,	,		16599	0.0		0.001	False		,,,				2504	0.001					ENST00000356006.3																			0																																																			101928372							g.chr1:160905975delT																													1.37:g.160905975delT														0	629	+									RNA	DEL	ENST00000427339.1	37																																																																																						0.393	RP11-312J18.6-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000071456.1			2	4						2	4	---	---	---	---
AQP12B	653437	broad.mit.edu	37	2	241621800	241621800	+	Frame_Shift_Del	DEL	C	C	-	rs201917032	byFrequency	TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr2:241621800delC	ENST00000407834.3	-	1	517	c.455delG	c.(454-456)agcfs	p.S153fs		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	141						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.S152fs*24(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		CAGGGCCGAGCTGCAGCTCTG	0.697													|||unknown(ALL_OTHER_Ns)	1162	0.232029	0.2602	0.1859	5008	,	,		16428	0.3621		0.1372	False		,,,				2504	0.1902					ENST00000407834.3																			2	Deletion - Frameshift(2)	p.S152fs*24(2)	ovary(1)|breast(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13						c.(454-456)acfs		aquaporin 12B				1107,2703		290,527,1088	3.0	5.0	4.0			2.8	1.0	2		5	1068,6184		219,630,2777	no	frameshift	AQP12B	NM_001102467.1		509,1157,3865	A1A1,A1R,RR		14.727,29.0551,19.6619			241621800	2175,8887	1826	3778	5604	SO:0001589	frameshift_variant	653437					integral to membrane	transporter activity	g.chr2:241621800delC	BC041460	CCDS46560.1	2q37.3	2007-12-14	2005-05-26	2005-05-26	ENSG00000185176	ENSG00000185176		"""Ion channels / Aquaporins"""	6096	protein-coding gene	gene with protein product			"""insulin synthesis associated 3"""	INSSA3			Standard	NM_001102467		Approved		uc010fzj.3	A6NM10	OTTHUMG00000152263	ENST00000407834.3:c.455delG	2.37:g.241621800delC	ENSP00000384894:p.Ser153fs						p.S153fs	NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)	1	517	-		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	141					A4QPB9	Frame_Shift_Del	DEL	ENST00000407834.3	37	c.455delG	CCDS46560.1																																																																																				0.697	AQP12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325625.1			11	5						11	5	---	---	---	---
LINC00969	440993	broad.mit.edu	37	3	195400814	195400815	+	lincRNA	INS	-	-	TT	rs371598334		TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr3:195400814_195400815insTT	ENST00000445430.1	+	0	1410_1411									long intergenic non-protein coding RNA 969																		ACCTGGTTGTCTGGTCAGGCAT	0.574																																						ENST00000445430.1																			0																																																			440993							g.chr3:195400814_195400815insTT	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400814_195400815insTT														0	1410_1411	+									RNA	INS	ENST00000445430.1	37																																																																																						0.574	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			7	61						7	61	---	---	---	---
SUDS3P1	285647	broad.mit.edu	37	5	177398373	177398396	+	RNA	DEL	AGGACGAAGAGCTGGAGAGCGCCA	AGGACGAAGAGCTGGAGAGCGCCA	-	rs548039666|rs70994948|rs71585660|rs568597025|rs535774316	byFrequency	TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA	ENST00000511650.1	+	0	145																											GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA	0.683														1220	0.24361	0.2678	0.3372	5008	,	,		15351	0.1548		0.2674	False		,,,				2504	0.2117					ENST00000511650.1																			0																																																			285647							g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA																													5.37:g.177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA														0	145	+									RNA	DEL	ENST00000511650.1	37																																																																																						0.683	RP11-1252I4.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000373553.1			5	7						5	7	---	---	---	---
PHKG1	5260	broad.mit.edu	37	7	62693665	62693666	+	RNA	INS	-	-	C	rs564850602|rs568251004		TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr7:62693665_62693666insC	ENST00000451381.1	-	0	181																											GCGATCACCTGAAGGCCACGCG	0.653																																						ENST00000451381.1																			0																																																			5260							g.chr7:62693665_62693666insC																													7.37:g.62693665_62693666insC														0	181	-									RNA	INS	ENST00000451381.1	37																																																																																						0.653	RP5-905H7.3-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000343675.1			5	3						5	3	---	---	---	---
DIS3	22894	broad.mit.edu	37	13	73349380	73349382	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr13:73349380_73349382delTCT	ENST00000377767.4	-	6	1054_1056	c.954_956delAGA	c.(952-957)gaagat>gat	p.E318del	DIS3_ENST00000545453.1_In_Frame_Del_p.E156del|DIS3_ENST00000377780.4_In_Frame_Del_p.E288del	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	318					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TTTCTCCACATCTTCTTCATTTT	0.394										Multiple Myeloma(4;0.011)																												ENST00000377767.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35						c.(952-957)gat>ga		DIS3 mitotic control homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	22894				CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	g.chr13:73349380_73349382delTCT	AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.954_956delAGA	13.37:g.73349383_73349385delTCT	ENSP00000366997:p.Glu318del	Multiple Myeloma(4;0.011)				DIS3_ENST00000377780.4_In_Frame_Del_p.ED288del|DIS3_ENST00000545453.1_In_Frame_Del_p.ED156del	p.ED318del	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN		GBM - Glioblastoma multiforme(99;0.000181)	6	1054_1056	-		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)	318					A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	In_Frame_Del	DEL	ENST00000377767.4	37	c.954_956delAGA	CCDS9447.1																																																																																				0.394	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953		27	91						27	91	---	---	---	---
RP11-597A11.1	0	broad.mit.edu	37	14	20086237	20086237	+	RNA	DEL	T	T	-	rs569592353|rs373441912	byFrequency	TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr14:20086237delT	ENST00000548261.1	+	0	51																											GGTGTGTGTGTGGGGGGGTAT	0.388													|||unknown(STR2?)	915	0.182708	0.2443	0.1686	5008	,	,		35626	0.1429		0.1511	False		,,,				2504	0.183					ENST00000548261.1																			0																																																			0							g.chr14:20086237delT																													14.37:g.20086237delT														0	51	+									RNA	DEL	ENST00000548261.1	37																																																																																						0.388	RP11-597A11.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409571.1			5	5						5	5	---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23299147	23299147	+	RNA	DEL	A	A	-	rs572079359	byFrequency	TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr15:23299147delA	ENST00000560464.1	-	0	4510									hect domain and RLD 2 pseudogene 2																		ACATTCAAAGAAAAAAAAAAA	0.313													|||unknown(HR)	437	0.0872604	0.1884	0.1182	5008	,	,		18000	0.0308		0.0268	False		,,,				2504	0.0491					ENST00000560464.1																			0																																																			400322							g.chr15:23299147delA	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23299147delA														0	4510	-									RNA	DEL	ENST00000560464.1	37																																																																																						0.313	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			2	4						2	4	---	---	---	---
CASC5	57082	broad.mit.edu	37	15	40915815	40915816	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr15:40915815_40915816delTG	ENST00000346991.5	+	11	3821_3822	c.3431_3432delTG	c.(3430-3432)ttgfs	p.L1144fs	CASC5_ENST00000399668.2_Frame_Shift_Del_p.L1118fs			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1144	2 X 104 AA approximate repeats.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AAAACTATTTTGTATTCATGTG	0.426																																						ENST00000346991.5																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(3430-3432)tfs		cancer susceptibility candidate 5																																				SO:0001589	frameshift_variant	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40915815_40915816delTG	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.3431_3432delTG	15.37:g.40915815_40915816delTG	ENSP00000335463:p.Leu1144fs					CASC5_ENST00000399668.2_Frame_Shift_Del_p.L1118fs	p.L1144fs			Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	11	3821_3822	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	1144			2 X 104 AA approximate repeats.		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Frame_Shift_Del	DEL	ENST00000346991.5	37	c.3431_3432delTG	CCDS42023.1																																																																																				0.426	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		15	75						15	75	---	---	---	---
EDC4	23644	broad.mit.edu	37	16	67913767	67913769	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr16:67913767_67913769delCAG	ENST00000358933.5	+	16	2075_2077	c.1836_1838delCAG	c.(1834-1839)cccagc>ccc	p.S617del	AC040162.1_ENST00000408599.1_RNA|CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	617	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGCCTCTCCcagcagcagcagc	0.611																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1834-1839)ccc>cc		enhancer of mRNA decapping 4																																				SO:0001651	inframe_deletion	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913767_67913769delCAG	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1836_1838delCAG	16.37:g.67913776_67913778delCAG	ENSP00000351811:p.Ser617del						p.PS612del	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2075_2077	+		Ovarian(137;0.0563)	612			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	In_Frame_Del	DEL	ENST00000358933.5	37	c.1836_1838delCAG	CCDS10849.1																																																																																				0.611	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		8	158						8	158	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74394379	74394380	+	RNA	INS	-	-	A	rs142790741	byFrequency	TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr16:74394379_74394380insA	ENST00000429810.2	-	0	435																											TAGTCATCCTTAAACAAAATTC	0.347													|||unknown(NO_COVERAGE)	1085	0.216653	0.2474	0.1888	5008	,	,		27432	0.1379		0.2604	False		,,,				2504	0.2311					ENST00000429810.2																			0																																																			0							g.chr16:74394379_74394380insA																													16.37:g.74394382_74394382dupA														0	435	-									RNA	INS	ENST00000429810.2	37																																																																																						0.347	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			3	3						3	3	---	---	---	---
CST5	1473	broad.mit.edu	37	20	23858182	23858182	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr20:23858182delA	ENST00000304710.4	-	2	378	c.305delT	c.(304-306)ttgfs	p.L102fs		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	102					negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						ACAGTTGTCCAAGTTGGGCTG	0.527																																						ENST00000304710.4																			0				breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						c.(304-306)tgfs		cystatin D							274.0	206.0	229.0					20																	23858182		2203	4300	6503	SO:0001589	frameshift_variant	1473					extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr20:23858182delA		CCDS13162.1	20p11.21	2008-04-15			ENSG00000170367	ENSG00000170367			2477	protein-coding gene	gene with protein product		123858				1939105	Standard	NM_001900		Approved		uc002wtr.1	P28325	OTTHUMG00000032089	ENST00000304710.4:c.305delT	20.37:g.23858182delA	ENSP00000307132:p.Leu102fs						p.L102fs	NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN			2	378	-			102					Q5JRF5|Q9UCA0	Frame_Shift_Del	DEL	ENST00000304710.4	37	c.305delT	CCDS13162.1																																																																																				0.527	CST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078355.2	NM_001900		16	112						16	112	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36689510	36689512	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chr22:36689510_36689512delCTC	ENST00000216181.5	-	30	4188_4190	c.3958_3960delGAG	c.(3958-3960)gagdel	p.E1320del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1320					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.E1320D(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCTGCCGGTTCTCCTCCTGCAGC	0.616			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		1	Substitution - Missense(1)	p.E1320D(1)	large_intestine(1)	NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(3958-3960)del		myosin, heavy chain 9, non-muscle																																				SO:0001651	inframe_deletion	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36689510_36689512delCTC		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.3958_3960delGAG	22.37:g.36689513_36689515delCTC	ENSP00000216181:p.Glu1320del						p.E1320del	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			30	4188_4190	-			1320					A8K6E4|O60805|Q60FE2|Q86T83	In_Frame_Del	DEL	ENST00000216181.5	37	c.3958_3960delGAG	CCDS13927.1																																																																																				0.616	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		24	144						24	144	---	---	---	---
SRPX	8406	broad.mit.edu	37	X	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-	rs35523939|rs72249350|rs139109693		TCGA-F7-A620-01A-11D-A28R-08	TCGA-F7-A620-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c01fa25-4571-434e-a777-544e9fc9f607	cadcaafa-e9bc-429e-bf94-8fa6a43af319	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)ctgcgc>cgc	p.L23del	RP13-43E11.1_ENST00000423919.1_RNA|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Intron|SRPX_ENST00000538295.1_In_Frame_Del_p.L23del|SRPX_ENST00000544439.1_In_Frame_Del_p.L23del|SRPX_ENST00000432886.2_In_Frame_Del_p.L23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:8634709, ECO:0000269|PubMed:9162095}.		autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		636	0.168477	0.1657	0.1398	3775	,	,		8591	0.0129		0.2028	False		,,,				2504	0.1053					ENST00000378533.3																			2	Deletion - In frame(2)	p.L23delL(2)	prostate(2)	autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						c.(67-72)cgc>c		sushi-repeat containing protein, X-linked																																				SO:0001651	inframe_deletion	8406				cell adhesion	cell surface|membrane		g.chrX:38079976_38079978delGCA	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.68_70delTGC	X.37:g.38079985_38079987delGCA	ENSP00000367794:p.Leu23del		OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del|SRPX_ENST00000343800.6_Intron|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del	p.LR23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN			1	174_176	-			23		Missing.			A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	In_Frame_Del	DEL	ENST00000378533.3	37	c.68_70delTGC	CCDS14245.1																																																																																				0.729	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		7	7						7	7	---	---	---	---
