#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
AADACL3	126767	broad.mit.edu	37	1	12785441	12785441	+	Silent	SNP	G	G	A	rs375207083		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr1:12785441G>A	ENST00000359318.5	+	4	736	c.531G>A	c.(529-531)tcG>tcA	p.S177S	AADACL3_ENST00000332530.3_Silent_p.S107S	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	177							hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AAACCCCTTCGTTTCAACAGA	0.488													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19849	0.0		0.0	False		,,,				2504	0.0					ENST00000332530.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15						c.(319-321)tcG>tcA		arylacetamide deacetylase-like 3		G	,	1,3753		0,1,1876	182.0	172.0	175.0		321,531	1.4	0.2	1		175	0,8202		0,0,4101	no	coding-synonymous,coding-synonymous	AADACL3	NM_001103169.1,NM_001103170.1	,	0,1,5977	AA,AG,GG		0.0,0.0266,0.0084	,	107/281,177/351	12785441	1,11955	1877	4101	5978	SO:0001819	synonymous_variant	126767						hydrolase activity	g.chr1:12785441G>A		CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.531G>A	1.37:g.12785441G>A						AADACL3_ENST00000359318.5_Silent_p.S177S	p.S107S	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	3	547	+	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	177					B3KXR9|Q5VUY1	Silent	SNP	ENST00000359318.5	37	c.321G>A	CCDS41253.1																																																																																				0.488	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	NM_001103170		47	154	0	0	0	1	0	47	154				
POGLUT1	56983	broad.mit.edu	37	3	119187888	119187888	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:119187888C>G	ENST00000295588.4	+	1	104	c.20C>G	c.(19-21)tCg>tGg	p.S7W		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	7					cardiovascular system development (GO:0072358)|Notch signaling pathway (GO:0007219)|protein O-linked glycosylation (GO:0006493)|regulation of Notch signaling pathway (GO:0008593)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	glucosyltransferase activity (GO:0046527)|protein xylosyltransferase activity (GO:0030158)|UDP-glucosyltransferase activity (GO:0035251)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						TGGGCTAGCTCGCCGCTTCGG	0.711																																						ENST00000295588.4																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						c.(19-21)tCg>tGg		protein O-glucosyltransferase 1							48.0	40.0	42.0					3																	119187888		2203	4299	6502	SO:0001583	missense	56983					endoplasmic reticulum lumen	UDP-glucosyltransferase activity	g.chr3:119187888C>G	BC030614	CCDS2988.1	3q13.33	2010-09-29	2010-09-29	2010-09-29	ENSG00000163389	ENSG00000163389			22954	protein-coding gene	gene with protein product	"""KDELC family like 1"""	615618	"""chromosome 3 open reading frame 9"", ""KTEL (Lys-Tyr-Glu-Leu) containing 1"""	C3orf9, KTELC1		16524674	Standard	NM_152305		Approved	MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi	uc003ecm.3	Q8NBL1	OTTHUMG00000159379	ENST00000295588.4:c.20C>G	3.37:g.119187888C>G	ENSP00000295588:p.Ser7Trp						p.S7W	NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN			1	104	+			7					B2RD13|Q53GJ4|Q8N2T1	Missense_Mutation	SNP	ENST00000295588.4	37	c.20C>G	CCDS2988.1	.	.	.	.	.	.	.	.	.	.	C	9.206	1.029699	0.19512	.	.	ENSG00000163389	ENST00000295588	T	0.25250	1.81	4.58	-3.83	0.04269	.	3.258760	0.00520	N	0.000189	T	0.15782	0.0380	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32851	-0.9891	10	0.72032	D	0.01	5.4316	7.1771	0.25751	0.0:0.2445:0.5077:0.2479	.	7	Q8NBL1	PGLT1_HUMAN	W	7	ENSP00000295588:S7W	ENSP00000295588:S7W	S	+	2	0	POGLUT1	120670578	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.342000	0.02645	-0.997000	0.03450	-0.165000	0.13383	TCG		0.711	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355034.2	NM_152305		12	18	0	0	0	1	0	12	18				
PLEC	5339	broad.mit.edu	37	8	144991031	144991031	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr8:144991031C>T	ENST00000322810.4	-	32	13538	c.13369G>A	c.(13369-13371)Ggc>Agc	p.G4457S	PLEC_ENST00000356346.3_Missense_Mutation_p.G4306S|PLEC_ENST00000398774.2_Missense_Mutation_p.G4288S|PLEC_ENST00000527096.1_Missense_Mutation_p.G4343S|PLEC_ENST00000345136.3_Missense_Mutation_p.G4320S|PLEC_ENST00000354589.3_Missense_Mutation_p.G4320S|PLEC_ENST00000357649.2_Missense_Mutation_p.G4324S|PLEC_ENST00000354958.2_Missense_Mutation_p.G4298S|PLEC_ENST00000436759.2_Missense_Mutation_p.G4347S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4457	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCGATGATGCCCCCGGTGCAG	0.652																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(13369-13371)Ggc>Agc		plectin							39.0	46.0	44.0					8																	144991031		2125	4225	6350	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144991031C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.13369G>A	8.37:g.144991031C>T	ENSP00000323856:p.Gly4457Ser					PLEC_ENST00000527096.1_Missense_Mutation_p.G4343S|PLEC_ENST00000357649.2_Missense_Mutation_p.G4324S|PLEC_ENST00000398774.2_Missense_Mutation_p.G4288S|PLEC_ENST00000354589.3_Missense_Mutation_p.G4320S|PLEC_ENST00000356346.3_Missense_Mutation_p.G4306S|PLEC_ENST00000436759.2_Missense_Mutation_p.G4347S|PLEC_ENST00000354958.2_Missense_Mutation_p.G4298S|PLEC_ENST00000345136.3_Missense_Mutation_p.G4320S	p.G4457S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	13538	-			4457			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.13369G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.453189	0.26161	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99;-1.99;-1.99;-1.99;-1.99	5.38	5.38	0.77491	.	0.000000	0.64402	U	0.000006	D	0.94205	0.8140	M	0.90870	3.155	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.94834	0.7999	10	0.72032	D	0.01	.	18.9233	0.92534	0.0:1.0:0.0:0.0	.	4347;4306;4298;4457;4288;4320;4324;4320	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	S	4320;4324;4320;4288;4457;4298;4306;4347;4343	ENSP00000344848:G4320S;ENSP00000350277:G4324S;ENSP00000346602:G4320S;ENSP00000381756:G4288S;ENSP00000323856:G4457S;ENSP00000347044:G4298S;ENSP00000348702:G4306S;ENSP00000388180:G4347S;ENSP00000434583:G4343S	ENSP00000323856:G4457S	G	-	1	0	PLEC	145063019	1.000000	0.71417	0.987000	0.45799	0.053000	0.15095	7.543000	0.82106	2.795000	0.96236	0.643000	0.83706	GGC		0.652	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		4	113	0	0	0	1	0	4	113				
COL6A3	1293	broad.mit.edu	37	2	238287314	238287314	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr2:238287314C>T	ENST00000295550.4	-	6	2914	c.2462G>A	c.(2461-2463)aGt>aAt	p.S821N	COL6A3_ENST00000392003.2_Missense_Mutation_p.S414N|COL6A3_ENST00000353578.4_Missense_Mutation_p.S615N|COL6A3_ENST00000347401.3_Missense_Mutation_p.S620N|COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000392004.3_Missense_Mutation_p.S615N|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000409809.1_Missense_Mutation_p.S615N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	821	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CACACCTCCACTAACATATGT	0.537																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(2461-2463)aGt>aAt		collagen, type VI, alpha 3							93.0	94.0	94.0					2																	238287314		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238287314C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.2462G>A	2.37:g.238287314C>T	ENSP00000295550:p.Ser821Asn					COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000392003.2_Missense_Mutation_p.S414N|COL6A3_ENST00000392004.3_Missense_Mutation_p.S615N|COL6A3_ENST00000347401.3_Missense_Mutation_p.S620N|COL6A3_ENST00000353578.4_Missense_Mutation_p.S615N|COL6A3_ENST00000409809.1_Missense_Mutation_p.S615N|COL6A3_ENST00000472056.1_Intron	p.S821N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	6	2914	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	821			Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.2462G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576652	0.65878	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000409809;ENST00000392004;ENST00000392003	D;D;D;D;T;T	0.88741	-2.42;-2.4;-2.39;-2.39;0.15;0.01	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000018	D	0.92932	0.7751	L	0.60455	1.87	0.80722	D	1	P;D;D;D	0.76494	0.892;0.993;0.999;0.994	P;D;D;P	0.72338	0.63;0.926;0.977;0.795	D	0.90575	0.4525	10	0.24483	T	0.36	.	19.1774	0.93607	0.0:1.0:0.0:0.0	.	414;615;615;821	A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;CO6A3_HUMAN	N	821;620;615;615;615;414	ENSP00000295550:S821N;ENSP00000315609:S620N;ENSP00000315873:S615N;ENSP00000386844:S615N;ENSP00000375861:S615N;ENSP00000375860:S414N	ENSP00000295550:S821N	S	-	2	0	COL6A3	237952053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.438000	0.59961	2.595000	0.87683	0.655000	0.94253	AGT		0.537	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		6	175	0	0	0	1	0	6	175				
RNF112	7732	broad.mit.edu	37	17	19316068	19316068	+	Missense_Mutation	SNP	C	C	T	rs369304861		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr17:19316068C>T	ENST00000461366.1	+	3	568	c.353C>T	c.(352-354)cCg>cTg	p.P118L	RNF112_ENST00000580109.1_3'UTR|CTB-187M2.2_ENST00000579897.1_RNA	NM_007148.4	NP_009079.2	Q9ULX5	RN112_HUMAN	ring finger protein 112	118						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						AAGCTCCTGCCGCAGCGGCCG	0.642																																						ENST00000461366.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						c.(352-354)cCg>cTg		ring finger protein 112		C	LEU/PRO	0,3954		0,0,1977	23.0	28.0	26.0		353	-1.7	0.3	17		26	1,8311		0,1,4155	no	missense	RNF112	NM_007148.4	98	0,1,6132	TT,TC,CC		0.012,0.0,0.0082	possibly-damaging	118/632	19316068	1,12265	1977	4156	6133	SO:0001583	missense	7732						GTP binding|GTPase activity|zinc ion binding	g.chr17:19316068C>T	AF054587	CCDS58529.1	17p11.2	2013-01-16	2008-06-13	2008-06-13	ENSG00000128482	ENSG00000128482		"""RING-type (C3HC4) zinc fingers"""	12968	protein-coding gene	gene with protein product		601237	"""zinc finger protein 179"""	ZNF179		8660987, 9806830	Standard	NM_007148		Approved	BFP	uc010vyw.2	Q9ULX5	OTTHUMG00000059601	ENST00000461366.1:c.353C>T	17.37:g.19316068C>T	ENSP00000454919:p.Pro118Leu					RNF112_ENST00000580109.1_3'UTR|CTB-187M2.2_ENST00000579897.1_RNA	p.P118L	NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN			3	568	+			118					O60633|Q7Z5V9	Missense_Mutation	SNP	ENST00000461366.1	37	c.353C>T	CCDS58529.1																																																																																				0.642	RNF112-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132549.4	NM_007148		4	67	0	0	0	1	0	4	67				
C12orf74	338809	broad.mit.edu	37	12	93100524	93100524	+	Silent	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr12:93100524G>A	ENST00000397833.3	+	2	568	c.117G>A	c.(115-117)cgG>cgA	p.R39R	C12orf74_ENST00000544406.2_Silent_p.R39R	NM_001037671.3|NM_001178097.2	NP_001032760.1|NP_001171568.1	Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	39										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						AGTTTGACCGGCAAGCCCCAG	0.627																																						ENST00000544406.2																			0				kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						c.(115-117)cgG>cgA		chromosome 12 open reading frame 74							38.0	41.0	40.0					12																	93100524		1914	4123	6037	SO:0001819	synonymous_variant	338809							g.chr12:93100524G>A	BC043363	CCDS41819.1, CCDS53818.1	12q22	2012-08-16			ENSG00000214215	ENSG00000214215			27887	protein-coding gene	gene with protein product						12477932	Standard	NM_001037671		Approved		uc001tch.2	Q32Q52	OTTHUMG00000170105	ENST00000397833.3:c.117G>A	12.37:g.93100524G>A						C12orf74_ENST00000397833.3_Silent_p.R39R	p.R39R			Q32Q52	CL074_HUMAN			2	383	+			39					F5H4P0	Silent	SNP	ENST00000397833.3	37	c.117G>A	CCDS41819.1																																																																																				0.627	C12orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407285.1	NM_001037671		4	103	0	0	0	1	0	4	103				
NBPF14	25832	broad.mit.edu	37	1	145293269	145293269	+	Splice_Site	SNP	G	G	A	rs61350760		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr1:145293269G>A	ENST00000468030.1	+	5	1125		c.e5+1		NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000342960.5_5'Flank|NBPF10_ENST00000369338.1_Splice_Site																							TTTCACAACAGTAAGTTAAGA	0.423																																						ENST00000369338.1																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.e1+1		neuroblastoma breakpoint family, member 10																																				SO:0001630	splice_region_variant	100132406							g.chr1:145293269G>A																												ENST00000468030.1:c.714+1G>A	1.37:g.145293269G>A						NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_Splice_Site				A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	1	155	+	all_hematologic(923;0.032)								Splice_Site	SNP	ENST00000468030.1	37																																																																																						0.423	RP11-458D21.5-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000038553.9		Intron	5	87	0	0	0	1	0	5	87				
IKBKB	3551	broad.mit.edu	37	8	42147675	42147675	+	Splice_Site	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr8:42147675C>T	ENST00000520810.1	+	4	388	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	IKBKB_ENST00000520835.1_Splice_Site_p.L66L|IKBKB_ENST00000519735.1_Splice_Site_p.L68L|IKBKB_ENST00000416505.2_Splice_Site_p.L9L|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	68	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	TCCTCCTAGGCTGACCCACCC	0.627																																						ENST00000520810.1																			0				breast(4)|lung(1)|ovary(2)|skin(1)	8						c.e4-1		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						41.0	40.0	40.0					8																	42147675		2203	4300	6503	SO:0001630	splice_region_variant	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42147675C>T	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.201-1C>T	8.37:g.42147675C>T						IKBKB_ENST00000416505.2_Splice_Site_p.L9_splice|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Splice_Site_p.L66_splice|IKBKB_ENST00000519735.1_Splice_Site_p.L68_splice|IKBKB_ENST00000379708.3_Intron	p.L68_splice	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		4	388	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	68			Protein kinase.		B4DZ30|B4E0U4|O75327	Splice_Site	SNP	ENST00000520810.1	37	c.200_splice	CCDS6128.1																																																																																				0.627	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1		Silent	19	18	0	0	0	1	0	19	18				
CUL5	8065	broad.mit.edu	37	11	107948957	107948957	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:107948957A>G	ENST00000393094.2	+	11	1784	c.1168A>G	c.(1168-1170)Aag>Gag	p.K390E		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	390					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		ATTACCTTTGAAGCAGAAGGG	0.264																																						ENST00000393094.2																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23						c.(1168-1170)Aag>Gag		cullin 5							80.0	97.0	91.0					11																	107948957		2172	4245	6417	SO:0001583	missense	8065				cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding	g.chr11:107948957A>G	X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.1168A>G	11.37:g.107948957A>G	ENSP00000376808:p.Lys390Glu						p.K390E	NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)	11	1784	+		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	390					A8K960|O14766|Q9BZC6	Missense_Mutation	SNP	ENST00000393094.2	37	c.1168A>G	CCDS31668.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.461738	0.84425	.	.	ENSG00000166266	ENST00000393094	T	0.69806	-0.43	5.6	5.6	0.85130	Cullin, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65575	0.2704	L	0.51422	1.61	0.80722	D	1	P	0.47484	0.896	B	0.43838	0.433	T	0.70073	-0.4972	10	0.62326	D	0.03	-14.9309	15.798	0.78428	1.0:0.0:0.0:0.0	.	390	Q93034	CUL5_HUMAN	E	390	ENSP00000376808:K390E	ENSP00000376808:K390E	K	+	1	0	CUL5	107454167	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.233000	0.95337	2.140000	0.66376	0.528000	0.53228	AAG		0.264	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1			47	180	0	0	0	1	0	47	180				
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	lincRNA	SNP	C	C	G	rs199933143		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713773C>G																													1.37:g.142713773C>G														0	832	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			5	69	0	0	0	1	0	5	69				
SUZ12P1	440423	broad.mit.edu	37	17	29061941	29061941	+	RNA	SNP	T	T	C	rs112064181		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr17:29061941T>C	ENST00000582557.1	+	0	861																											TAGATTTCTTTGAACTCGGAA	0.303																																						ENST00000582557.1																			0																																																			0							g.chr17:29061941T>C																													17.37:g.29061941T>C														0	861	+									RNA	SNP	ENST00000582557.1	37																																																																																						0.303	SUZ12P-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444260.1			4	60	0	0	0	1	0	4	60				
SLC16A6	9120	broad.mit.edu	37	17	66267106	66267106	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr17:66267106T>C	ENST00000327268.4	-	6	1359	c.1195A>G	c.(1195-1197)Ata>Gta	p.I399V	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.I399V	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	399					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	GTCCCTCCTATTGTTCCAACC	0.443																																						ENST00000327268.4																			0				large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15						c.(1195-1197)Ata>Gta		solute carrier family 16, member 6	Pyruvic acid(DB00119)						124.0	111.0	115.0					17																	66267106		2203	4300	6503	SO:0001583	missense	9120					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr17:66267106T>C	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"""Solute carriers"""	10927	protein-coding gene	gene with protein product		603880	"""solute carrier family 16 (monocarboxylic acid transporters), member 6"", ""solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"""			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.1195A>G	17.37:g.66267106T>C	ENSP00000319991:p.Ile399Val					SLC16A6_ENST00000580666.1_Missense_Mutation_p.I399V|ARSG_ENST00000448504.2_Intron	p.I399V	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		6	1359	-	all_cancers(12;1.24e-09)		399					Q6P1X3	Missense_Mutation	SNP	ENST00000327268.4	37	c.1195A>G	CCDS11675.1	.	.	.	.	.	.	.	.	.	.	T	0.087	-1.172822	0.01646	.	.	ENSG00000108932	ENST00000327268	T	0.55234	0.53	4.37	2.27	0.28462	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.215502	0.38897	N	0.001521	T	0.15955	0.0384	N	0.00855	-1.145	0.26731	N	0.970596	B	0.02656	0.0	B	0.06405	0.002	T	0.34976	-0.9807	10	0.02654	T	1	.	7.7434	0.28853	0.0:0.8079:0.0:0.1921	.	399	O15403	MOT7_HUMAN	V	399	ENSP00000319991:I399V	ENSP00000319991:I399V	I	-	1	0	SLC16A6	63778701	0.818000	0.29161	0.002000	0.10522	0.745000	0.42441	1.456000	0.35201	0.329000	0.23460	0.397000	0.26171	ATA		0.443	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694		35	143	0	0	0	1	0	35	143				
MAST3	23031	broad.mit.edu	37	19	18260436	18260436	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr19:18260436C>T	ENST00000262811.6	+	27	3830	c.3830C>T	c.(3829-3831)cCg>cTg	p.P1277L	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	1277							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TTCGATGAGCCGCAGGAGGAG	0.667																																						ENST00000262811.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						c.(3829-3831)cCg>cTg		microtubule associated serine/threonine kinase 3							18.0	21.0	20.0					19																	18260436		2098	4216	6314	SO:0001583	missense	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18260436C>T	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.3830C>T	19.37:g.18260436C>T	ENSP00000262811:p.Pro1277Leu					AC007192.6_ENST00000600364.1_RNA	p.P1277L	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN			27	3830	+			1277					Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	c.3830C>T	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965291	0.34659	.	.	ENSG00000099308	ENST00000262811	T	0.70516	-0.49	4.56	3.28	0.37604	.	0.286267	0.32655	N	0.005808	T	0.57475	0.2056	L	0.32530	0.975	0.43368	D	0.995457	B	0.06786	0.001	B	0.04013	0.001	T	0.48736	-0.9009	10	0.25106	T	0.35	-8.5681	12.3184	0.54971	0.4035:0.5965:0.0:0.0	.	1277	O60307	MAST3_HUMAN	L	1277	ENSP00000262811:P1277L	ENSP00000262811:P1277L	P	+	2	0	MAST3	18121436	0.844000	0.29557	0.894000	0.35097	0.772000	0.43724	0.398000	0.20899	0.674000	0.31244	0.313000	0.20887	CCG		0.667	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		4	48	0	0	0	1	0	4	48				
ADAMTS20	80070	broad.mit.edu	37	12	43944870	43944870	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr12:43944870A>G	ENST00000389420.3	-	2	294	c.295T>C	c.(295-297)Ttt>Ctt	p.F99L	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.F99L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	99					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GCGGCCAGAAAGGATGCATCG	0.672																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(295-297)Ttt>Ctt		ADAM metallopeptidase with thrombospondin type 1 motif, 20							49.0	52.0	51.0					12																	43944870		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43944870A>G	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.295T>C	12.37:g.43944870A>G	ENSP00000374071:p.Phe99Leu					ADAMTS20_ENST00000553158.1_Missense_Mutation_p.F99L	p.F99L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	2	294	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	99					A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.295T>C	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	A	32	5.180516	0.94846	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.04502	3.61;3.61	4.08	4.08	0.47627	Peptidase M12B, propeptide (1);	0.000000	0.40728	N	0.001033	T	0.11239	0.0274	L	0.33753	1.03	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.37384	-0.9708	10	0.19147	T	0.46	.	13.7654	0.62992	1.0:0.0:0.0:0.0	.	99	P59510	ATS20_HUMAN	L	99	ENSP00000374071:F99L;ENSP00000448341:F99L	ENSP00000374068:F99L	F	-	1	0	ADAMTS20	42231137	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	8.507000	0.90522	2.063000	0.61619	0.533000	0.62120	TTT		0.672	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		7	42	0	0	0	1	0	7	42				
TPP2	7174	broad.mit.edu	37	13	103282539	103282539	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr13:103282539G>A	ENST00000376065.4	+	10	1274	c.1238G>A	c.(1237-1239)gGa>gAa	p.G413E	TPP2_ENST00000376052.3_Missense_Mutation_p.G413E	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	413	Peptidase S8.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCTTCTAGAGGACCTAGGTAG	0.408																																						ENST00000376052.3																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52						c.(1237-1239)gGa>gAa		tripeptidyl peptidase II							108.0	97.0	101.0					13																	103282539		2203	4300	6503	SO:0001583	missense	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103282539G>A	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.1238G>A	13.37:g.103282539G>A	ENSP00000365233:p.Gly413Glu					TPP2_ENST00000376065.4_Missense_Mutation_p.G413E	p.G413E			P29144	TPP2_HUMAN			10	1254	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		413					Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	37	c.1238G>A	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017130	0.93404	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	T;T	0.62498	0.02;0.02	5.8	5.8	0.92144	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.86830	0.6027	H	0.96080	3.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90207	0.4261	10	0.87932	D	0	.	20.0693	0.97712	0.0:0.0:1.0:0.0	.	413	P29144	TPP2_HUMAN	E	413	ENSP00000365233:G413E;ENSP00000365220:G413E	ENSP00000365220:G413E	G	+	2	0	TPP2	102080540	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	9.186000	0.94906	2.758000	0.94735	0.563000	0.77884	GGA		0.408	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			12	41	0	0	0	1	0	12	41				
IRS1	3667	broad.mit.edu	37	2	227663384	227663384	+	Missense_Mutation	SNP	C	C	T	rs557991154		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr2:227663384C>T	ENST00000305123.5	-	1	1091	c.71G>A	c.(70-72)aGc>aAc	p.S24N	RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	24	Mediates interaction with PHIP. {ECO:0000250}.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TTTGTGCATGCTCTTGGGTTT	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		15775	0.001		0.0	False		,,,				2504	0.0					ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(70-72)aGc>aAc		insulin receptor substrate 1							37.0	43.0	41.0					2																	227663384		2203	4299	6502	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227663384C>T		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.71G>A	2.37:g.227663384C>T	ENSP00000304895:p.Ser24Asn						p.S24N	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	1091	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	24			Mediates interaction with PHIP (By similarity).|PH.			Missense_Mutation	SNP	ENST00000305123.5	37	c.71G>A	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.006156	0.54361	.	.	ENSG00000169047	ENST00000305123	T	0.71222	-0.55	5.1	5.1	0.69264	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000002	T	0.76069	0.3936	L	0.41236	1.265	0.44395	D	0.997305	D	0.61697	0.99	P	0.60173	0.87	T	0.72707	-0.4212	10	0.28530	T	0.3	-32.4737	18.4954	0.90863	0.0:1.0:0.0:0.0	.	24	P35568	IRS1_HUMAN	N	24	ENSP00000304895:S24N	ENSP00000304895:S24N	S	-	2	0	IRS1	227371628	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.904000	0.56325	2.526000	0.85167	0.561000	0.74099	AGC		0.657	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		4	99	0	0	0	1	0	4	99				
VN1R2	317701	broad.mit.edu	37	19	53762633	53762633	+	Silent	SNP	C	C	T	rs201104873		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr19:53762633C>T	ENST00000341702.3	+	1	1089	c.1005C>T	c.(1003-1005)taC>taT	p.Y335Y	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	335					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TCATCACCTACGTTTATTTAG	0.443																																						ENST00000341702.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1003-1005)taC>taT		vomeronasal 1 receptor 2							261.0	230.0	241.0					19																	53762633		2203	4300	6503	SO:0001819	synonymous_variant	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53762633C>T	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.1005C>T	19.37:g.53762633C>T						VN1R2_ENST00000598458.1_Intron	p.Y335Y	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	1089	+			335					A1L411|Q8TDU4	Silent	SNP	ENST00000341702.3	37	c.1005C>T	CCDS12862.1																																																																																				0.443	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		19	97	0	0	0	1	0	19	97				
SLFN12	55106	broad.mit.edu	37	17	33738466	33738466	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr17:33738466G>T	ENST00000394562.1	-	6	2151	c.1628C>A	c.(1627-1629)tCt>tAt	p.S543Y	SLFN12_ENST00000452764.3_Missense_Mutation_p.S543Y|SLFN12_ENST00000304905.5_Missense_Mutation_p.S543Y|RP11-686D22.8_ENST00000587012.1_RNA|SLFN12_ENST00000460530.1_5'UTR			Q8IYM2	SLN12_HUMAN	schlafen family member 12	543							ATP binding (GO:0005524)			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTCTCTCAGAGACTTGAGTCT	0.343																																						ENST00000394562.1																			0				breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(1627-1629)tCt>tAt		schlafen family member 12							50.0	52.0	52.0					17																	33738466		2202	4297	6499	SO:0001583	missense	55106						ATP binding	g.chr17:33738466G>T	AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.1628C>A	17.37:g.33738466G>T	ENSP00000378063:p.Ser543Tyr					SLFN12_ENST00000304905.5_Missense_Mutation_p.S543Y|SLFN12_ENST00000452764.3_Missense_Mutation_p.S543Y|SLFN12_ENST00000460530.1_5'UTR	p.S543Y			Q8IYM2	SLN12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	2151	-		Ovarian(249;0.17)	543					A8K711|Q9NP47	Missense_Mutation	SNP	ENST00000394562.1	37	c.1628C>A	CCDS11295.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.666274	0.29604	.	.	ENSG00000172123	ENST00000394562;ENST00000304905;ENST00000452764	T;T;T	0.05382	3.45;3.45;3.45	2.92	1.93	0.25924	.	.	.	.	.	T	0.04634	0.0126	N	0.08118	0	0.09310	N	1	P	0.44044	0.825	P	0.45881	0.496	T	0.38112	-0.9676	9	0.72032	D	0.01	.	5.8426	0.18643	0.1551:0.0:0.8449:0.0	.	543	Q8IYM2	SLN12_HUMAN	Y	543	ENSP00000378063:S543Y;ENSP00000302077:S543Y;ENSP00000394903:S543Y	ENSP00000302077:S543Y	S	-	2	0	SLFN12	30762579	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.454000	0.21827	0.546000	0.28920	0.430000	0.28490	TCT		0.343	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256491.1	NM_018042		29	40	1	0	4.87955e-14	1	4.87955e-14	29	40				
JAG1	182	broad.mit.edu	37	20	10620233	10620233	+	Silent	SNP	C	C	T	rs201572666		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr20:10620233C>T	ENST00000254958.5	-	26	4085	c.3570G>A	c.(3568-3570)ccG>ccA	p.P1190P	JAG1_ENST00000423891.2_Silent_p.P1031P	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1190					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GGTGTTTTGTCGGCGTGCCGT	0.542									Alagille Syndrome				C|||	1	0.000199681	0.0	0.0014	5008	,	,		17853	0.0		0.0	False		,,,				2504	0.0					ENST00000254958.5																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						c.(3568-3570)ccG>ccA		jagged 1		C		0,4406		0,0,2203	234.0	214.0	221.0		3570	0.8	1.0	20		221	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	JAG1	NM_000214.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1190/1219	10620233	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10620233C>T	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.3570G>A	20.37:g.10620233C>T						JAG1_ENST00000423891.2_Silent_p.P1031P	p.P1190P	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN			26	4085	-			1190					A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	37	c.3570G>A	CCDS13112.1																																																																																				0.542	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		17	325	0	0	0	1	0	17	325				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			26	46	0	0	0	1	0	26	46				
MYH11	4629	broad.mit.edu	37	16	15876277	15876277	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr16:15876277C>T	ENST00000300036.5	-	6	800	c.691G>A	c.(691-693)Gcc>Acc	p.A231T	MYH11_ENST00000396324.3_Missense_Mutation_p.A238T|MYH11_ENST00000576790.2_Missense_Mutation_p.A231T|MYH11_ENST00000452625.2_Missense_Mutation_p.A238T	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	231	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ACTGTTTTGGCGTTGCCGAAA	0.468			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(691-693)Gcc>Acc		myosin, heavy chain 11, smooth muscle							166.0	151.0	156.0					16																	15876277		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15876277C>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.691G>A	16.37:g.15876277C>T	ENSP00000300036:p.Ala231Thr					MYH11_ENST00000576790.1_Missense_Mutation_p.A231T|MYH11_ENST00000396324.3_Missense_Mutation_p.A238T|MYH11_ENST00000452625.2_Missense_Mutation_p.A238T|MYH11_ENST00000300036.5_Missense_Mutation_p.A231T	p.A231T	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			6	797	-			231			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.691G>A	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	35	5.465591	0.96257	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77	5.33	5.33	0.75918	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.95947	0.8680	H	0.99897	4.91	0.80722	D	1	D;D;D;D;D	0.89917	0.993;1.0;1.0;1.0;1.0	D;D;D;D;D	0.78314	0.942;0.991;0.991;0.991;0.991	D	0.98059	1.0392	10	0.72032	D	0.01	.	17.9519	0.89056	0.0:1.0:0.0:0.0	.	238;231;238;231;238	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	T	231;231;238;238;238	ENSP00000300036:A231T;ENSP00000345136:A231T;ENSP00000379616:A238T;ENSP00000407821:A238T	ENSP00000300036:A231T	A	-	1	0	MYH11	15783778	1.000000	0.71417	0.985000	0.45067	0.964000	0.63967	7.511000	0.81718	2.637000	0.89404	0.561000	0.74099	GCC		0.468	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		4	99	0	0	0	1	0	4	99				
GNAT3	346562	broad.mit.edu	37	7	80108203	80108203	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr7:80108203A>G	ENST00000398291.3	-	4	508	c.415T>C	c.(415-417)Tgc>Cgc	p.C139R	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	139					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of visible light (GO:0009584)|platelet activation (GO:0030168)|response to nicotine (GO:0035094)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|synaptic transmission (GO:0007268)	acrosomal vesicle (GO:0001669)|apical plasma membrane (GO:0016324)|axoneme (GO:0005930)|heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						CTTTCAAAGCAGGCCTGAATT	0.413																																						ENST00000398291.3																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						c.(415-417)Tgc>Cgc		guanine nucleotide binding protein, alpha transducing 3							156.0	148.0	151.0					7																	80108203		1879	4110	5989	SO:0001583	missense	346562				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr7:80108203A>G		CCDS47625.1	7q21.11	2007-06-13			ENSG00000214415	ENSG00000214415			22800	protein-coding gene	gene with protein product		139395					Standard	NM_001102386		Approved	gustducin, GDCA	uc011kgu.2	A8MTJ3	OTTHUMG00000155401	ENST00000398291.3:c.415T>C	7.37:g.80108203A>G	ENSP00000381339:p.Cys139Arg					CD36_ENST00000435819.1_Intron	p.C139R	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN			4	508	-			139					A4D1B2|A4D1B3|B9EJG5	Missense_Mutation	SNP	ENST00000398291.3	37	c.415T>C	CCDS47625.1	.	.	.	.	.	.	.	.	.	.	A	18.85	3.711424	0.68730	.	.	ENSG00000214415	ENST00000398291	D	0.88818	-2.43	5.32	5.32	0.75619	G protein alpha subunit, helical insertion (2);	0.122222	0.56097	U	0.000032	D	0.95316	0.8480	H	0.94771	3.58	0.80722	D	1	D	0.57571	0.98	P	0.59487	0.858	D	0.96519	0.9384	9	.	.	.	.	14.9419	0.71000	1.0:0.0:0.0:0.0	.	139	A8MTJ3	GNAT3_HUMAN	R	139	ENSP00000381339:C139R	.	C	-	1	0	GNAT3	79946139	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.038000	0.49783	2.014000	0.59158	0.528000	0.53228	TGC		0.413	GNAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339909.3	XM_294370		65	107	0	0	0	1	0	65	107				
ARID2	196528	broad.mit.edu	37	12	46285864	46285864	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr12:46285864A>T	ENST00000334344.6	+	18	5304	c.5132A>T	c.(5131-5133)cAg>cTg	p.Q1711L	ARID2_ENST00000457135.1_Missense_Mutation_p.Q319L|ARID2_ENST00000422737.1_Missense_Mutation_p.Q1562L|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.Q1321L	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1711					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCAGGAAGTCAGAAGTCTTCT	0.383			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(5131-5133)cAg>cTg		AT rich interactive domain 2 (ARID, RFX-like)							94.0	86.0	89.0					12																	46285864		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46285864A>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.5132A>T	12.37:g.46285864A>T	ENSP00000335044:p.Gln1711Leu					ARID2_ENST00000444670.1_Missense_Mutation_p.Q1321L|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_Missense_Mutation_p.Q319L|ARID2_ENST00000422737.1_Missense_Mutation_p.Q1562L	p.Q1711L	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	18	5304	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1711					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.5132A>T	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	A	13.67	2.305214	0.40795	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670;ENST00000457135	T	0.33216	1.42	5.42	5.42	0.78866	.	0.060728	0.64402	D	0.000002	T	0.24736	0.0600	L	0.41236	1.265	0.45676	D	0.998591	P;P;B	0.38504	0.493;0.634;0.04	B;B;B	0.33620	0.167;0.167;0.02	T	0.04551	-1.0943	10	0.49607	T	0.09	-6.9085	12.2931	0.54829	0.8586:0.1414:0.0:0.0	.	1711;1321;1711	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	L	1711;828;828;1562;1321;319	ENSP00000335044:Q1711L	ENSP00000335044:Q1711L	Q	+	2	0	ARID2	44572131	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	4.147000	0.58078	2.172000	0.68678	0.533000	0.62120	CAG		0.383	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		6	41	0	0	0	1	0	6	41				
F9	2158	broad.mit.edu	37	X	138643994	138643994	+	Nonsense_Mutation	SNP	C	C	T	rs137852261		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chrX:138643994C>T	ENST00000218099.2	+	8	1157	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*	F9_ENST00000394090.2_Nonsense_Mutation_p.R346*	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	384	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		R -> L (in THPH8; factor IX Padua; higher specific activity than wild-type). {ECO:0000269|PubMed:19846852}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.R384*(3)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	CACATGTCTTCGATCTACAAA	0.463																																						ENST00000218099.2																			3	Substitution - Nonsense(3)	p.R384*(3)	large_intestine(2)|endometrium(1)	breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	GRCh37	CM940671	F9	M	rs137852261	c.(1150-1152)Cga>Tga		coagulation factor IX	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						113.0	101.0	105.0					X																	138643994		2203	4300	6503	SO:0001587	stop_gained	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138643994C>T	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.1150C>T	X.37:g.138643994C>T	ENSP00000218099:p.Arg384*					F9_ENST00000394090.2_Nonsense_Mutation_p.R346*	p.R384*	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN			8	1157	+	Acute lymphoblastic leukemia(192;0.000127)		384		R -> L (in THR-FIX; factor IX Padua; higher specific activity than wild-type).	Peptidase S1.		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Nonsense_Mutation	SNP	ENST00000218099.2	37	c.1150C>T	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018508	0.75275	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	.	.	.	5.66	3.83	0.44106	.	0.451696	0.25654	N	0.029189	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.5754	0.56362	0.5922:0.4078:0.0:0.0	.	.	.	.	X	384;346	.	ENSP00000218099:R384X	R	+	1	2	F9	138471660	0.003000	0.15002	0.992000	0.48379	0.799000	0.45148	0.769000	0.26604	0.492000	0.27815	0.600000	0.82982	CGA		0.463	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			5	75	0	0	0	1	0	5	75				
TRIM71	131405	broad.mit.edu	37	3	32932723	32932723	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:32932723G>A	ENST00000383763.5	+	4	2090	c.2027G>A	c.(2026-2028)cGc>cAc	p.R676H		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	676					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GACAATCATCGCATCCAGATC	0.592																																						ENST00000383763.4																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2026-2028)cGc>cAc		tripartite motif containing 71, E3 ubiquitin protein ligase							55.0	60.0	58.0					3																	32932723		2117	4234	6351	SO:0001583	missense	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32932723G>A		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32669	protein-coding gene	gene with protein product			"""tripartite motif-containing 71"", ""tripartite motif containing 71"""				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.2027G>A	3.37:g.32932723G>A	ENSP00000373272:p.Arg676His						p.R676H	NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN			4	2090	+			676						Missense_Mutation	SNP	ENST00000383763.5	37	c.2027G>A	CCDS43060.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387016	0.82902	.	.	ENSG00000206557	ENST00000383763	T	0.78924	-1.22	5.73	5.73	0.89815	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.92668	0.7670	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.94616	0.7809	10	0.66056	D	0.02	-44.6621	18.4419	0.90669	0.0:0.0:1.0:0.0	.	676	Q2Q1W2	LIN41_HUMAN	H	676	ENSP00000373272:R676H	ENSP00000373272:R676H	R	+	2	0	TRIM71	32907727	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.724000	0.98775	2.708000	0.92522	0.650000	0.86243	CGC		0.592	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		8	88	0	0	0	1	0	8	88				
PAK6	56924	broad.mit.edu	37	15	40564820	40564820	+	Silent	SNP	C	C	T	rs149826022		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr15:40564820C>T	ENST00000542403.2	+	4	1365	c.1254C>T	c.(1252-1254)acC>acT	p.T418T	PAK6_ENST00000441369.1_Silent_p.T418T|PAK6_ENST00000260404.4_Silent_p.T418T|PAK6_ENST00000560346.1_Silent_p.T418T|PAK6_ENST00000455577.2_Silent_p.T418T|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000453867.1_Silent_p.T418T	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	418	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		AGGGCTCCACCGGCATCGTCT	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		19164	0.001		0.0	False		,,,				2504	0.0					ENST00000455577.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24						c.(1252-1254)acC>acT		p21 protein (Cdc42/Rac)-activated kinase 6		C	,,	4,4402	8.1+/-20.4	0,4,2199	42.0	39.0	40.0		1254,1254,1254	-1.7	1.0	15	dbSNP_134	40	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	PAK6	NM_001128628.1,NM_001128629.1,NM_020168.4	,,	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	,,	418/682,418/682,418/682	40564820	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	56924						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40564820C>T	AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"""p21(CDKN1A)-activated kinase 6"""			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.1254C>T	15.37:g.40564820C>T						PAK6_ENST00000441369.1_Silent_p.T418T|PAK6_ENST00000560346.1_Silent_p.T418T|PAK6_ENST00000542403.2_Silent_p.T418T|PAK6_ENST00000260404.4_Silent_p.T418T|PAK6_ENST00000453867.1_Silent_p.T418T|RP11-133K1.2_ENST00000558658.1_3'UTR	p.T418T	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)	6	2166	+		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)	418			Protein kinase.		A8K2G2|B3KYB0|G5E9R2	Silent	SNP	ENST00000542403.2	37	c.1254C>T	CCDS10054.1																																																																																				0.637	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000418355.1			41	51	0	0	0	1	0	41	51				
EGR4	1961	broad.mit.edu	37	2	73519641	73519641	+	Silent	SNP	A	A	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr2:73519641A>G	ENST00000545030.1	-	2	788	c.714T>C	c.(712-714)gaT>gaC	p.D238D	EGR4_ENST00000436467.2_Silent_p.D135D	NM_001965.3	NP_001956.3	Q05215	EGR4_HUMAN	early growth response 4	238	Pro-rich.				cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCAGCAAGGCATCGGACCCCG	0.682																																						ENST00000436467.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(403-405)gaT>gaC		early growth response 4							17.0	21.0	20.0					2																	73519641		2197	4289	6486	SO:0001819	synonymous_variant	1961					intracellular	nucleic acid binding|zinc ion binding	g.chr2:73519641A>G		CCDS1925.2	2p13	2013-01-08			ENSG00000135625	ENSG00000135625		"""Zinc fingers, C2H2-type"""	3241	protein-coding gene	gene with protein product		128992				1584812	Standard	NM_001965		Approved	NGFI-C, PAT133	uc010yrj.2	Q05215	OTTHUMG00000129774	ENST00000545030.1:c.714T>C	2.37:g.73519641A>G						EGR4_ENST00000545030.1_Silent_p.D238D	p.D135D			B7ZKU3	B7ZKU3_HUMAN			2	792	-			134					B2RAE3|G3V1T5|Q2Z1P5	Silent	SNP	ENST00000545030.1	37	c.405T>C	CCDS1925.2																																																																																				0.682	EGR4-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001965		5	15	0	0	0	1	0	5	15				
ZNRF4	148066	broad.mit.edu	37	19	5456174	5456174	+	Silent	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr19:5456174C>T	ENST00000222033.4	+	1	749	c.672C>T	c.(670-672)gtC>gtT	p.V224V		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	224	PA.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		ACCTGCGGGTCATCCTGGGCT	0.677																																						ENST00000222033.4																			0				NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(670-672)gtC>gtT		zinc and ring finger 4							50.0	53.0	52.0					19																	5456174		2184	4269	6453	SO:0001819	synonymous_variant	148066					integral to membrane	zinc ion binding	g.chr19:5456174C>T	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.672C>T	19.37:g.5456174C>T							p.V224V	NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	749	+			224			PA.		A8K886|O75866	Silent	SNP	ENST00000222033.4	37	c.672C>T	CCDS42475.1																																																																																				0.677	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		11	132	0	0	0	1	0	11	132				
SLC9C2	284525	broad.mit.edu	37	1	173526563	173526563	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr1:173526563C>T	ENST00000367714.3	-	10	1553	c.1131G>A	c.(1129-1131)tgG>tgA	p.W377*	SLC9C2_ENST00000536496.1_Nonsense_Mutation_p.W275*|SLC9C2_ENST00000466087.1_5'UTR|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	377					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TAATTCCAGACCACGTGATTA	0.383																																						ENST00000367714.3																			0											c.(1129-1131)tgG>tgA		solute carrier family 9, member C2 (putative)							138.0	149.0	146.0					1																	173526563		2203	4300	6503	SO:0001587	stop_gained	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173526563C>T	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1131G>A	1.37:g.173526563C>T	ENSP00000356687:p.Trp377*					SLC9C2_ENST00000536496.1_Nonsense_Mutation_p.W275*|RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000466087.1_5'UTR	p.W377*	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN			10	1553	-			377					Q86UF3	Nonsense_Mutation	SNP	ENST00000367714.3	37	c.1131G>A	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	C	37	6.366355	0.97507	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	.	.	.	5.57	3.51	0.40186	.	0.125962	0.36854	N	0.002362	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.1968	11.0968	0.48150	0.2666:0.7334:0.0:0.0	.	.	.	.	X	377;275	.	ENSP00000356687:W377X	W	-	3	0	SLC9A11	171793186	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	1.353000	0.34045	2.630000	0.89119	0.591000	0.81541	TGG		0.383	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		92	111	0	0	0	1	0	92	111				
OR6Q1	219952	broad.mit.edu	37	11	57798864	57798864	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:57798864G>A	ENST00000302622.3	+	1	463	c.440G>A	c.(439-441)cGt>cAt	p.R147H	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				ACCTGCATCCGTCTGGCAGCT	0.507																																						ENST00000302622.3																			0				biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(439-441)cGt>cAt		olfactory receptor, family 6, subfamily Q, member 1							133.0	123.0	127.0					11																	57798864		2201	4296	6497	SO:0001583	missense	219952				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57798864G>A	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"""GPCR / Class A : Olfactory receptors"""	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.440G>A	11.37:g.57798864G>A	ENSP00000307734:p.Arg147His					OR9Q1_ENST00000335397.3_Intron	p.R147H	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN			1	463	+		Breast(21;0.0707)|all_epithelial(135;0.142)	147					B9EKW1|Q6IFH1|Q96R34	Missense_Mutation	SNP	ENST00000302622.3	37	c.440G>A	CCDS31541.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586156	0.28268	.	.	ENSG00000172381	ENST00000302622	T	0.00130	8.69	5.04	-0.361	0.12564	GPCR, rhodopsin-like superfamily (1);	0.191925	0.25747	N	0.028564	T	0.00073	0.0002	N	0.16833	0.445	0.09310	N	0.999995	B	0.10296	0.003	B	0.10450	0.005	T	0.16188	-1.0411	10	0.13108	T	0.6	.	3.9773	0.09479	0.3116:0.0:0.4488:0.2396	.	147	Q8NGQ2	OR6Q1_HUMAN	H	147	ENSP00000307734:R147H	ENSP00000307734:R147H	R	+	2	0	OR6Q1	57555440	0.000000	0.05858	0.977000	0.42913	0.991000	0.79684	-0.815000	0.04481	-0.041000	0.13558	-0.135000	0.14842	CGT		0.507	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	NM_001005186		5	126	0	0	0	1	0	5	126				
SLC5A11	115584	broad.mit.edu	37	16	24883542	24883542	+	Splice_Site	SNP	T	T	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr16:24883542T>G	ENST00000347898.3	+	5	994		c.e5+2		SLC5A11_ENST00000545376.1_Splice_Site|SLC5A11_ENST00000539472.1_Splice_Site|SLC5A11_ENST00000569071.1_Splice_Site|SLC5A11_ENST00000449109.2_Splice_Site|SLC5A11_ENST00000567758.1_Splice_Site|SLC5A11_ENST00000568579.1_Splice_Site|SLC5A11_ENST00000424767.2_Splice_Site|SLC5A11_ENST00000565769.1_Splice_Site	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GCTGGTCAGGTGAGTCGGGGG	0.552																																						ENST00000347898.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49						c.e5+2		solute carrier family 5 (sodium/inositol cotransporter), member 11							271.0	247.0	255.0					16																	24883542		2197	4300	6497	SO:0001630	splice_region_variant	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24883542T>G	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.372+2T>G	16.37:g.24883542T>G						SLC5A11_ENST00000424767.2_Splice_Site|SLC5A11_ENST00000565769.1_Splice_Site|SLC5A11_ENST00000539472.1_Splice_Site|SLC5A11_ENST00000569071.1_Splice_Site|SLC5A11_ENST00000449109.2_Splice_Site|SLC5A11_ENST00000545376.1_Splice_Site|SLC5A11_ENST00000567758.1_Splice_Site|SLC5A11_ENST00000568579.1_Splice_Site		NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	5	994	+									Splice_Site	SNP	ENST00000347898.3	37		CCDS10625.1	.	.	.	.	.	.	.	.	.	.	t	17.95	3.512773	0.64522	.	.	ENSG00000158865	ENST00000347898;ENST00000449109;ENST00000424767;ENST00000545376;ENST00000539472	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4416	0.55627	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC5A11	24791043	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	6.598000	0.74122	1.830000	0.53286	0.364000	0.22116	.		0.552	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944	Intron	13	295	0	0	0	1	0	13	295				
SREBF1	6720	broad.mit.edu	37	17	17723758	17723758	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr17:17723758C>T	ENST00000261646.5	-	2	353	c.169G>A	c.(169-171)Ggg>Agg	p.G57R	SREBF1_ENST00000435530.2_Missense_Mutation_p.G57R|SREBF1_ENST00000355815.4_Missense_Mutation_p.G87R|SREBF1_ENST00000395757.1_5'Flank|SREBF1_ENST00000583732.1_5'UTR|SREBF1_ENST00000338854.5_Missense_Mutation_p.G57R	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	57	Transcriptional activation (acidic).				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						TCTGTGCCCCCTGCCCCACTC	0.587																																						ENST00000355815.4																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						c.(259-261)Ggg>Agg		sterol regulatory element binding transcription factor 1							59.0	53.0	55.0					17																	17723758		2203	4300	6503	SO:0001583	missense	6720				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	g.chr17:17723758C>T	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.169G>A	17.37:g.17723758C>T	ENSP00000261646:p.Gly57Arg					SREBF1_ENST00000435530.2_Missense_Mutation_p.G57R|SREBF1_ENST00000261646.5_Missense_Mutation_p.G57R|SREBF1_ENST00000583732.1_5'UTR|SREBF1_ENST00000338854.5_Missense_Mutation_p.G57R	p.G87R	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN			3	428	-			57			Pro/Ser-rich.		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	37	c.259G>A	CCDS11189.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.245|2.245	-0.372814|-0.372814	0.05034|0.05034	.|.	.|.	ENSG00000072310|ENSG00000072310	ENST00000338854;ENST00000355815;ENST00000261646;ENST00000418712;ENST00000435530|ENST00000395751	T;T;T;T|.	0.78364|.	0.56;0.59;0.59;-1.17|.	3.28|3.28	3.28|3.28	0.37604|0.37604	.|.	0.602398|.	0.16129|.	N|.	0.228290|.	T|T	0.46776|0.46776	0.1410|0.1410	L|L	0.56769|0.56769	1.78|1.78	0.09310|0.09310	N|N	1|1	B;B;B;D|.	0.89917|.	0.027;0.01;0.005;1.0|.	B;B;B;D|.	0.91635|.	0.008;0.005;0.017;0.999|.	T|T	0.31024|0.31024	-0.9958|-0.9958	10|5	0.87932|.	D|.	0|.	-11.0381|-11.0381	10.4114|10.4114	0.44296|0.44296	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	57;33;57;87|.	B0I4X3;B0I4X4;P36956;P36956-4|.	.;.;SRBP1_HUMAN;.|.	R|K	57;87;57;33;57|64	ENSP00000345822:G57R;ENSP00000348069:G87R;ENSP00000261646:G57R;ENSP00000413389:G57R|.	ENSP00000261646:G57R|.	G|R	-|-	1|2	0|0	SREBF1|SREBF1	17664483|17664483	0.001000|0.001000	0.12720|0.12720	0.018000|0.018000	0.16275|0.16275	0.045000|0.045000	0.14185|0.14185	0.721000|0.721000	0.25911|0.25911	2.170000|2.170000	0.68504|0.68504	0.555000|0.555000	0.69702|0.69702	GGG|AGG		0.587	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		11	70	0	0	0	1	0	11	70				
FREM1	158326	broad.mit.edu	37	9	14842610	14842610	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr9:14842610A>G	ENST00000380880.3	-	9	2225	c.1442T>C	c.(1441-1443)gTt>gCt	p.V481A	FREM1_ENST00000380881.4_Missense_Mutation_p.V482A|FREM1_ENST00000422223.2_Missense_Mutation_p.V481A			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	481					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATGATAGCGAACAACTCCAGC	0.532																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1444-1446)gTt>gCt		FRAS1 related extracellular matrix 1							93.0	98.0	96.0					9																	14842610		2086	4206	6292	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14842610A>G	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1442T>C	9.37:g.14842610A>G	ENSP00000370262:p.Val481Ala					FREM1_ENST00000380880.3_Missense_Mutation_p.V481A|FREM1_ENST00000422223.2_Missense_Mutation_p.V481A	p.V482A			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	10	2260	-			481					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.1445T>C	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.837038	0.91117	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.27402	1.67;1.67;1.67	5.63	5.63	0.86233	.	0.117292	0.56097	D	0.000021	T	0.59945	0.2231	M	0.83483	2.645	0.58432	D	0.999998	D	0.89917	1.0	D	0.78314	0.991	T	0.66035	-0.6023	10	0.87932	D	0	-11.4496	16.1485	0.81594	1.0:0.0:0.0:0.0	.	481	Q5H8C1	FREM1_HUMAN	A	482;481;481	ENSP00000370263:V482A;ENSP00000412940:V481A;ENSP00000370262:V481A	ENSP00000370257:V484A	V	-	2	0	FREM1	14832610	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.910000	0.92685	2.281000	0.76405	0.533000	0.62120	GTT		0.532	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		130	11	0	0	0	1	0	130	11				
ITGA8	8516	broad.mit.edu	37	10	15561315	15561315	+	Missense_Mutation	SNP	C	C	T	rs150922478	byFrequency	TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr10:15561315C>T	ENST00000378076.3	-	29	3432	c.3079G>A	c.(3079-3081)Gcc>Acc	p.A1027T		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	1027					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GTTAAAATGGCGAGAACCAAC	0.373																																						ENST00000378076.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(3079-3081)Gcc>Acc		integrin, alpha 8		C	THR/ALA	0,4406		0,0,2203	134.0	145.0	141.0		3079	4.6	1.0	10	dbSNP_134	141	5,8595	4.3+/-15.6	0,5,4295	yes	missense	ITGA8	NM_003638.1	58	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	benign	1027/1064	15561315	5,13001	2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15561315C>T	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.3079G>A	10.37:g.15561315C>T	ENSP00000367316:p.Ala1027Thr						p.A1027T	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN			29	3432	-			1027					B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.3079G>A	CCDS31155.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	17.35	3.368088	0.61513	0.0	5.81E-4	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.72051	-0.62	5.71	4.62	0.57501	.	0.143577	0.64402	D	0.000006	T	0.60856	0.2301	L	0.39566	1.225	0.46478	D	0.999066	B;B	0.26845	0.161;0.1	B;B	0.23018	0.043;0.019	T	0.58521	-0.7622	10	0.35671	T	0.21	.	13.8587	0.63545	0.0:0.9176:0.0:0.0824	.	1012;1027	F5H818;P53708	.;ITA8_HUMAN	T	1027;1012	ENSP00000367316:A1027T	ENSP00000367316:A1027T	A	-	1	0	ITGA8	15601321	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.807000	0.62576	2.712000	0.92718	0.650000	0.86243	GCC		0.373	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		10	215	0	0	0	1	0	10	215				
POU6F2	11281	broad.mit.edu	37	7	39125630	39125630	+	Splice_Site	SNP	C	C	T	rs530262963	byFrequency	TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr7:39125630C>T	ENST00000403058.1	+	3	343	c.189C>T	c.(187-189)ttC>ttT	p.F63F	POU6F2_ENST00000518318.2_Splice_Site_p.F63F|POU6F2_ENST00000464276.2_Splice_Site_p.F55F|POU6F2_ENST00000559001.1_Splice_Site_p.F55F|POU6F2_ENST00000517348.1_3'UTR	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	63					central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F63F(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GCAAGCTCTTCGGTAAGTCTG	0.507													C|||	7	0.00139776	0.0	0.0	5008	,	,		15948	0.0		0.0	False		,,,				2504	0.0072					ENST00000518318.2																			1	Substitution - coding silent(1)	p.F63F(1)	large_intestine(1)	NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.e2+1		POU class 6 homeobox 2							90.0	78.0	82.0					7																	39125630		2203	4300	6503	SO:0001630	splice_region_variant	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39125630C>T	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.190+1C>T	7.37:g.39125630C>T						POU6F2_ENST00000403058.1_Splice_Site_p.F63_splice|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_Splice_Site_p.F55_splice|POU6F2_ENST00000464276.2_Splice_Site_p.F55_splice	p.F63_splice			P78424	PO6F2_HUMAN			2	231	+			63					A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Splice_Site	SNP	ENST00000403058.1	37	c.190_splice	CCDS34620.2																																																																																				0.507	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252	Silent	5	42	0	0	0	1	0	5	42				
KRTAP5-4	387267	broad.mit.edu	37	11	1643289	1643289	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:1643289G>A	ENST00000399682.1	-	1	79	c.35C>T	c.(34-36)tCc>tTc	p.S12F		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0						keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		cccacagccggagccacagcc	0.682																																						ENST00000399682.1																			0				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20						c.(34-36)tCc>tTc		keratin associated protein 5-4							9.0	11.0	10.0					11																	1643289		689	1588	2277	SO:0001583	missense	387267					keratin filament		g.chr11:1643289G>A	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.35C>T	11.37:g.1643289G>A	ENSP00000382590:p.Ser12Phe						p.S12F	NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	79	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	12						Missense_Mutation	SNP	ENST00000399682.1	37	c.35C>T		.	.	.	.	.	.	.	.	.	.	G	9.681	1.149332	0.21288	.	.	ENSG00000241598	ENST00000399682;ENST00000328953	T	0.01178	5.22	3.16	3.16	0.36331	.	.	.	.	.	T	0.03739	0.0106	M	0.77486	2.375	0.23542	N	0.997458	.	.	.	.	.	.	T	0.16630	-1.0396	7	0.87932	D	0	.	8.5857	0.33657	0.0:0.2391:0.7609:0.0	.	.	.	.	F	12	ENSP00000382590:S12F	ENSP00000331603:S12F	S	-	2	0	KRTAP5-4	1599865	1.000000	0.71417	0.987000	0.45799	0.438000	0.31896	2.016000	0.40971	1.467000	0.48044	0.591000	0.81541	TCC		0.682	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		28	251	0	0	0	1	0	28	251				
GRIN2B	2904	broad.mit.edu	37	12	13717461	13717461	+	Missense_Mutation	SNP	G	G	A	rs552036402		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr12:13717461G>A	ENST00000609686.1	-	13	2920	c.2711C>T	c.(2710-2712)aCg>aTg	p.T904M		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	904					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTTCTTGGCCGTGCGCAGCAG	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		20296	0.0		0.001	False		,,,				2504	0.0					ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(2710-2712)aCg>aTg		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						155.0	142.0	146.0					12																	13717461		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13717461G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2711C>T	12.37:g.13717461G>A	ENSP00000477455:p.Thr904Met						p.T904M	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	2920	-			904					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.2711C>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102169	0.56183	.	.	ENSG00000150086	ENST00000279593	T	0.13778	2.56	5.43	5.43	0.79202	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.36663	0.0975	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.05162	-1.0902	10	0.87932	D	0	.	19.2359	0.93858	0.0:0.0:1.0:0.0	.	904	Q13224	NMDE2_HUMAN	M	904	ENSP00000279593:T904M	ENSP00000279593:T904M	T	-	2	0	GRIN2B	13608728	1.000000	0.71417	0.990000	0.47175	0.784000	0.44337	8.056000	0.89455	2.561000	0.86390	0.655000	0.94253	ACG		0.582	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			9	290	0	0	0	1	0	9	290				
R3HDM1	23518	broad.mit.edu	37	2	136467655	136467655	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr2:136467655G>A	ENST00000264160.4	+	22	2855	c.2485G>A	c.(2485-2487)Ggg>Agg	p.G829R	R3HDM1_ENST00000409478.1_Missense_Mutation_p.G701R|R3HDM1_ENST00000409606.1_Missense_Mutation_p.G830R|R3HDM1_ENST00000329971.3_Missense_Mutation_p.G700R|R3HDM1_ENST00000410054.1_Missense_Mutation_p.G774R	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	829							poly(A) RNA binding (GO:0044822)	p.G829R(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		ACCTGGTGGGGGGATGGTGAT	0.453											OREG0014997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000264160.4																			1	Substitution - Missense(1)	p.G829R(1)	large_intestine(1)	breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38						c.(2485-2487)Ggg>Agg		R3H domain containing 1							95.0	92.0	93.0					2																	136467655		2203	4300	6503	SO:0001583	missense	23518						nucleic acid binding	g.chr2:136467655G>A	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.2485G>A	2.37:g.136467655G>A	ENSP00000264160:p.Gly829Arg		OREG0014997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1626	R3HDM1_ENST00000329971.3_Missense_Mutation_p.G700R|R3HDM1_ENST00000409606.1_Missense_Mutation_p.G830R|R3HDM1_ENST00000410054.1_Missense_Mutation_p.G774R|R3HDM1_ENST00000409478.1_Missense_Mutation_p.G701R	p.G829R	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	22	2855	+			829					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	ENST00000264160.4	37	c.2485G>A	CCDS2177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.559978|4.559978	0.86335|0.86335	.|.	.|.	ENSG00000048991|ENSG00000048991	ENST00000429703|ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606	T|T;T;T;T;T	0.45668|0.72394	0.89|-0.49;0.4;-0.52;-0.65;0.4	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.121195|0.121195	0.56097|0.56097	D|D	0.000031|0.000031	D|D	0.83478|0.83478	0.5263|0.5263	M|M	0.66939|0.66939	2.045|2.045	0.47659|0.47659	D|D	0.999484|0.999484	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.999;0.999;0.999	D|D	0.85041|0.85041	0.0923|0.0923	8|10	0.46703|0.72032	T|D	0.11|0.01	-8.6574|-8.6574	18.5376|18.5376	0.91015|0.91015	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|701;830;774;829	.|G5E9G8;E9PBB4;E9PG42;Q15032	.|.;.;.;R3HD1_HUMAN	E|R	552|701;829;700;774;830	ENSP00000403406:G552E|ENSP00000386457:G701R;ENSP00000264160:G829R;ENSP00000331396:G700R;ENSP00000386877:G774R;ENSP00000387010:G830R	ENSP00000403406:G552E|ENSP00000264160:G829R	G|G	+|+	2|1	0|0	R3HDM1|R3HDM1	136184125|136184125	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	5.841000|5.841000	0.69409|0.69409	2.460000|2.460000	0.83146|0.83146	0.650000|0.650000	0.86243|0.86243	GGG|GGG		0.453	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		44	58	0	0	0	1	0	44	58				
GPR149	344758	broad.mit.edu	37	3	154056037	154056037	+	Silent	SNP	A	A	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:154056037A>G	ENST00000389740.2	-	4	1746	c.1647T>C	c.(1645-1647)atT>atC	p.I549I		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	549					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CACACAAGGGAATGGCAAGGG	0.428																																						ENST00000389740.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47						c.(1645-1647)atT>atC		G protein-coupled receptor 149							103.0	103.0	103.0					3																	154056037		1879	4102	5981	SO:0001819	synonymous_variant	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154056037A>G	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1647T>C	3.37:g.154056037A>G							p.I549I	NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		4	1746	-			549						Silent	SNP	ENST00000389740.2	37	c.1647T>C	CCDS43162.1																																																																																				0.428	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		46	163	0	0	0	1	0	46	163				
SPG20	23111	broad.mit.edu	37	13	36888512	36888512	+	Silent	SNP	A	A	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr13:36888512A>G	ENST00000451493.1	-	6	1552	c.1335T>C	c.(1333-1335)acT>acC	p.T445T	SPG20_ENST00000438666.2_Silent_p.T445T|SPG20_ENST00000494062.2_Silent_p.T445T|SPG20_ENST00000355182.4_Silent_p.T445T	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	445					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TTGCCTTACCAGTAATCTCAG	0.408																																						ENST00000451493.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1333-1335)acT>acC		spastic paraplegia 20 (Troyer syndrome)							100.0	101.0	101.0					13																	36888512		2203	4300	6503	SO:0001819	synonymous_variant	23111				cell death	cytoplasm	ubiquitin protein ligase binding	g.chr13:36888512A>G	AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"""spartin"""	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.1335T>C	13.37:g.36888512A>G						SPG20_ENST00000355182.4_Silent_p.T445T|SPG20_ENST00000438666.2_Silent_p.T445T|SPG20_ENST00000494062.2_Silent_p.T445T	p.T445T	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)	6	1552	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	445					O60349|Q86Y67|Q9H1T2|Q9H1T3	Silent	SNP	ENST00000451493.1	37	c.1335T>C	CCDS9356.1																																																																																				0.408	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2			22	54	0	0	0	1	0	22	54				
PCSK5	5125	broad.mit.edu	37	9	78790192	78790192	+	Intron	SNP	C	C	G	rs200914896		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr9:78790192C>G	ENST00000545128.1	+	14	2438				PCSK5_ENST00000376767.3_Missense_Mutation_p.R683G|PCSK5_ENST00000376752.4_Intron	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ggaatggaatcgaatcgaatc	0.373																																						ENST00000376767.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(2047-2049)Cga>Gga		proprotein convertase subtilisin/kexin type 5																																				SO:0001627	intron_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78790192C>G		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1900+147C>G	9.37:g.78790192C>G						PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron	p.R683G			Q92824	PCSK5_HUMAN			14	2559	+			0			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.2047C>G	CCDS55320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	0.525|0.525	-0.860634|-0.860634	0.02610|0.02610	.|.	.|.	ENSG00000099139|ENSG00000099139	ENST00000376767|ENST00000396108	T|.	0.65916|.	-0.18|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.35098|0.35098	0.0920|0.0920	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.38045|0.38045	-0.9679|-0.9679	7|4	0.07325|0.87932	T|D	0.83|0	.|.	2.8186|2.8186	0.05465|0.05465	0.5:0.5:0.0:0.0|0.5:0.5:0.0:0.0	.|.	683|.	B1AMG5|.	.|.	G|W	683|681	ENSP00000365958:R683G|.	ENSP00000365958:R683G|ENSP00000379415:S681W	R|S	+|+	1|2	2|0	PCSK5|PCSK5	77980012|77980012	0.000000|0.000000	0.05858|0.05858	0.075000|0.075000	0.20258|0.20258	0.077000|0.077000	0.17291|0.17291	-2.681000|-2.681000	0.00837|0.00837	-0.000000|-0.000000	0.14550|0.14550	0.000000|0.000000	0.15137|0.15137	CGA|TCG		0.373	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				3	12	0	0	0	1	0	3	12				
ZNF215	7762	broad.mit.edu	37	11	6977625	6977625	+	Missense_Mutation	SNP	C	C	T	rs201971317		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:6977625C>T	ENST00000278319.5	+	7	2005	c.1417C>T	c.(1417-1419)Cgg>Tgg	p.R473W	ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Missense_Mutation_p.R473W	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	473					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		ATCCTTCAACCGGAGCTCCTC	0.388																																						ENST00000278319.5																			0				NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32						c.(1417-1419)Cgg>Tgg		zinc finger protein 215							83.0	86.0	85.0					11																	6977625		2201	4296	6497	SO:0001583	missense	7762				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:6977625C>T	AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.1417C>T	11.37:g.6977625C>T	ENSP00000278319:p.Arg473Trp					ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Missense_Mutation_p.R473W	p.R473W	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN		Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)	7	2005	+			473					Q96C84	Missense_Mutation	SNP	ENST00000278319.5	37	c.1417C>T	CCDS7775.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.836776	0.50951	.	.	ENSG00000149054	ENST00000278319;ENST00000414517	T;T	0.30182	1.54;1.54	4.75	2.85	0.33270	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39759	N	0.001264	T	0.35566	0.0936	L	0.42487	1.325	0.18873	N	0.999982	D	0.89917	1.0	P	0.57846	0.828	T	0.08806	-1.0704	10	0.56958	D	0.05	-0.1481	5.7398	0.18087	0.3447:0.5641:0.0:0.0912	.	473	Q9UL58	ZN215_HUMAN	W	473	ENSP00000278319:R473W;ENSP00000393202:R473W	ENSP00000278319:R473W	R	+	1	2	ZNF215	6934201	0.000000	0.05858	0.079000	0.20413	0.763000	0.43281	-1.369000	0.02578	0.713000	0.32060	0.585000	0.79938	CGG		0.388	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1			7	115	0	0	0	1	0	7	115				
XDH	7498	broad.mit.edu	37	2	31571808	31571808	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr2:31571808G>A	ENST00000379416.3	-	27	3056	c.3008C>T	c.(3007-3009)cCc>cTc	p.P1003L		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1003					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	AAACTTGGTGGGAATTATGCA	0.383																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.(3007-3009)cCc>cTc		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						108.0	108.0	108.0					2																	31571808		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31571808G>A	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3008C>T	2.37:g.31571808G>A	ENSP00000368727:p.Pro1003Leu						p.P1003L	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			27	3056	-	Acute lymphoblastic leukemia(172;0.155)		1003					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.3008C>T	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726718	0.89298	.	.	ENSG00000158125	ENST00000379416	T	0.39056	1.1	5.85	5.85	0.93711	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.000000	0.85682	D	0.000000	T	0.72431	0.3459	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76743	-0.2847	10	0.87932	D	0	.	19.7879	0.96445	0.0:0.0:1.0:0.0	.	1003	P47989	XDH_HUMAN	L	1003	ENSP00000368727:P1003L	ENSP00000368727:P1003L	P	-	2	0	XDH	31425312	1.000000	0.71417	0.983000	0.44433	0.720000	0.41350	9.278000	0.95766	2.771000	0.95319	0.561000	0.74099	CCC		0.383	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		4	58	0	0	0	1	0	4	58				
TAGAP	117289	broad.mit.edu	37	6	159456923	159456923	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr6:159456923C>T	ENST00000367066.3	-	10	2463	c.2132G>A	c.(2131-2133)cGa>cAa	p.R711Q	RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.R533Q|RP1-111C20.4_ENST00000606466.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	711					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GCTACATCGTCGCACGAGACA	0.567																																						ENST00000367066.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23						c.(2131-2133)cGa>cAa		T-cell activation RhoGTPase activating protein							68.0	62.0	64.0					6																	159456923		2203	4300	6503	SO:0001583	missense	117289				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr6:159456923C>T	AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"""Rho GTPase activating proteins"""	15669	protein-coding gene	gene with protein product		609667	"""T-cell activation GTPase activating protein"""			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.2132G>A	6.37:g.159456923C>T	ENSP00000356033:p.Arg711Gln					RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.R533Q|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA	p.R711Q	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	10	2463	-		Breast(66;0.000776)|Ovarian(120;0.0303)	711					Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Missense_Mutation	SNP	ENST00000367066.3	37	c.2132G>A	CCDS5261.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601701	0.46423	.	.	ENSG00000164691	ENST00000367066;ENST00000326965	T;T	0.22743	1.94;2.18	5.82	0.844	0.18943	.	0.573271	0.16820	N	0.198182	T	0.02807	0.0084	N	0.19112	0.55	0.18873	N	0.999987	B	0.33379	0.41	B	0.19666	0.026	T	0.38499	-0.9658	10	0.39692	T	0.17	-0.1856	4.0768	0.09908	0.1123:0.5895:0.1088:0.1894	.	711	Q8N103	TAGAP_HUMAN	Q	711;533	ENSP00000356033:R711Q;ENSP00000322650:R533Q	ENSP00000322650:R533Q	R	-	2	0	TAGAP	159376911	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.422000	0.07043	0.080000	0.16959	0.563000	0.77884	CGA		0.567	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114		6	64	0	0	0	1	0	6	64				
ST3GAL3	6487	broad.mit.edu	37	1	44364853	44364853	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr1:44364853C>T	ENST00000361392.4	+	8	652	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.R213C|ST3GAL3_ENST00000262915.3_Missense_Mutation_p.R228C|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000528371.1_Missense_Mutation_p.R143C|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.R213C|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.R228C|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.R197C|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.R128C|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.R128C|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.R143C|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.R159C|ST3GAL3_ENST00000372367.1_Missense_Mutation_p.R158C|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.R197C|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.R159C|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.R143C|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000335430.6_Missense_Mutation_p.R143C|ST3GAL3_ENST00000372365.1_Missense_Mutation_p.R159C|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.R159C|ST3GAL3_ENST00000372366.1_Missense_Mutation_p.R158C|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.R174C|ST3GAL3_ENST00000461375.1_3'UTR	NM_001270459.1|NM_006279.3|NM_174964.2	NP_001257388.1|NP_006270.1|NP_777624.1	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	159					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)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				CCGCTGCCGCCGCTGCATCAT	0.597																																						ENST00000262915.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19						c.(682-684)Cgc>Tgc		ST3 beta-galactoside alpha-2,3-sialyltransferase 3							99.0	90.0	93.0					1																	44364853		2203	4300	6503	SO:0001583	missense	6487				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity	g.chr1:44364853C>T	L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"""Sialyltransferases"""	10866	protein-coding gene	gene with protein product	"""ST3Gal III"""	606494	"""sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)"", ""mental retardation, non-syndromic, autosomal recessive, 12"""	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.475C>T	1.37:g.44364853C>T	ENSP00000355341:p.Arg159Cys					ST3GAL3_ENST00000372366.1_Missense_Mutation_p.R158C|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.R159C|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.R197C|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.R128C|ST3GAL3_ENST00000372367.1_Missense_Mutation_p.R158C|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.R159C|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.R228C|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.R143C|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.R213C|ST3GAL3_ENST00000372365.1_Missense_Mutation_p.R159C|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.R143C|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.R174C|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000361392.4_Missense_Mutation_p.R159C|ST3GAL3_ENST00000335430.6_Missense_Mutation_p.R143C|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.R213C|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.R197C|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000528371.1_Missense_Mutation_p.R143C|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.R128C|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.R159C	p.R228C	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN			9	859	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)	159					A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58	Missense_Mutation	SNP	ENST00000361392.4	37	c.682C>T	CCDS492.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.661595	0.88154	.	.	ENSG00000126091	ENST00000361392;ENST00000361400;ENST00000262915;ENST00000372375;ENST00000351035;ENST00000372374;ENST00000353126;ENST00000335430;ENST00000347631;ENST00000372369;ENST00000361746;ENST00000372367;ENST00000372366;ENST00000372365;ENST00000372368;ENST00000372372;ENST00000528371;ENST00000531993;ENST00000533933;ENST00000332628	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25	5.72	5.72	0.89469	.	0.051499	0.85682	D	0.000000	T	0.70456	0.3226	M	0.91038	3.17	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.97;0.984;0.995;0.989;0.984;0.999;0.97;0.988;0.993;0.97;0.993;0.983;0.993;0.987	T	0.76804	-0.2824	10	0.87932	D	0	.	19.8946	0.96949	0.0:1.0:0.0:0.0	.	159;112;143;158;143;158;128;159;197;143;213;159;228;174	Q11203-5;Q11203-21;Q11203-17;Q11203-24;Q11203-16;Q11203-23;Q11203-7;Q11203-8;Q11203-19;Q11203-15;Q11203-13;Q11203;Q11203-4;Q5T4W8	.;.;.;.;.;.;.;.;.;.;.;SIAT6_HUMAN;.;.	C	159;143;228;213;197;128;159;143;174;159;228;158;158;159;213;197;143;143;159;128	ENSP00000355341:R159C;ENSP00000354748:R143C;ENSP00000262915:R228C;ENSP00000361450:R213C;ENSP00000316999:R197C;ENSP00000361449:R128C;ENSP00000330463:R159C;ENSP00000335633:R143C;ENSP00000317192:R174C;ENSP00000361444:R159C;ENSP00000354657:R228C;ENSP00000361442:R158C;ENSP00000361441:R158C;ENSP00000361440:R159C;ENSP00000361443:R213C;ENSP00000361447:R197C;ENSP00000434876:R143C;ENSP00000432682:R143C;ENSP00000432965:R159C;ENSP00000329755:R128C	ENSP00000262915:R228C	R	+	1	0	ST3GAL3	44137440	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.664000	0.61540	2.711000	0.92665	0.655000	0.94253	CGC		0.597	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019964.1	NM_174963		47	6	0	0	0	1	0	47	6				
AFTPH	54812	broad.mit.edu	37	2	64796313	64796313	+	Silent	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr2:64796313G>A	ENST00000422803.1	+	4	2489	c.2175G>A	c.(2173-2175)aaG>aaA	p.K725K	AFTPH_ENST00000487769.1_Intron|AFTPH_ENST00000409183.1_Silent_p.K356K|AFTPH_ENST00000409933.1_Silent_p.K725K|AFTPH_ENST00000238856.4_Silent_p.K725K|AFTPH_ENST00000238855.7_Silent_p.K725K			Q6ULP2	AFTIN_HUMAN	aftiphilin	725					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						ATAGCAACAAGAAGCTTTTGT	0.433																																						ENST00000422803.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(2173-2175)aaG>aaA		aftiphilin							152.0	144.0	147.0					2																	64796313		2203	4300	6503	SO:0001819	synonymous_variant	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64796313G>A	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.2175G>A	2.37:g.64796313G>A						AFTPH_ENST00000409933.1_Silent_p.K725K|AFTPH_ENST00000487769.1_Intron|AFTPH_ENST00000238856.4_Silent_p.K725K|AFTPH_ENST00000409183.1_Silent_p.K356K|AFTPH_ENST00000238855.7_Silent_p.K725K	p.K725K			Q6ULP2	AFTIN_HUMAN			4	2489	+			725					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Silent	SNP	ENST00000422803.1	37	c.2175G>A																																																																																					0.433	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		10	106	0	0	0	1	0	10	106				
IGSF6	10261	broad.mit.edu	37	16	21655635	21655635	+	Silent	SNP	G	G	A	rs183946841	byFrequency	TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr16:21655635G>A	ENST00000268389.4	-	3	571	c.510C>T	c.(508-510)tgC>tgT	p.C170C	RNU6-196P_ENST00000384315.1_RNA|RNU6-1005P_ENST00000384519.1_RNA|METTL9_ENST00000396014.4_Intron|METTL9_ENST00000358154.3_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	170					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		TGAAGGCCACGCACACACCGG	0.413													G|||	2	0.000399361	0.0	0.0	5008	,	,		20535	0.002		0.0	False		,,,				2504	0.0					ENST00000268389.4																			0				endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(508-510)tgC>tgT		immunoglobulin superfamily, member 6							123.0	114.0	117.0					16																	21655635		2199	4300	6499	SO:0001819	synonymous_variant	10261				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr16:21655635G>A	AJ223183	CCDS10599.1	16p12.2	2013-01-11			ENSG00000140749	ENSG00000140749		"""Immunoglobulin superfamily / V-set domain containing"""	5953	protein-coding gene	gene with protein product		606222				9809579	Standard	NM_005849		Approved	DORA	uc002djg.2	O95976	OTTHUMG00000090709	ENST00000268389.4:c.510C>T	16.37:g.21655635G>A						METTL9_ENST00000358154.3_Intron|METTL9_ENST00000396014.4_Intron	p.C170C	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN		GBM - Glioblastoma multiforme(48;0.066)	3	571	-			170					Q8WWD8	Silent	SNP	ENST00000268389.4	37	c.510C>T	CCDS10599.1																																																																																				0.413	IGSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207400.1			8	171	0	0	0	1	0	8	171				
SPTY2D1	144108	broad.mit.edu	37	11	18636782	18636782	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:18636782G>A	ENST00000336349.5	-	3	1274	c.1039C>T	c.(1039-1041)Cat>Tat	p.H347Y	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	347	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TGGCTAGGATGGGACAGAGAT	0.542																																						ENST00000336349.5																			0				breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						c.(1039-1041)Cat>Tat		SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)							108.0	120.0	116.0					11																	18636782		2199	4293	6492	SO:0001583	missense	144108							g.chr11:18636782G>A	BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1039C>T	11.37:g.18636782G>A	ENSP00000337991:p.His347Tyr						p.H347Y	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN			3	1274	-			347			Ser-rich.		Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	ENST00000336349.5	37	c.1039C>T	CCDS31441.1	.	.	.	.	.	.	.	.	.	.	G	7.743	0.701677	0.15172	.	.	ENSG00000179119	ENST00000336349	T	0.24350	1.86	5.77	0.604	0.17547	.	0.798902	0.12047	N	0.504425	T	0.14527	0.0351	N	0.20986	0.625	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.23511	-1.0186	10	0.56958	D	0.05	0.1504	3.9311	0.09285	0.2263:0.0:0.4865:0.2871	.	347	Q68D10	SPT2_HUMAN	Y	347	ENSP00000337991:H347Y	ENSP00000337991:H347Y	H	-	1	0	SPTY2D1	18593358	0.998000	0.40836	0.029000	0.17559	0.691000	0.40173	2.564000	0.45931	-0.125000	0.11703	-0.309000	0.09137	CAT		0.542	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285		34	258	0	0	0	1	0	34	258				
SOX4	6659	broad.mit.edu	37	6	21595117	21595117	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr6:21595117A>G	ENST00000244745.1	+	1	1146	c.352A>G	c.(352-354)Aag>Gag	p.K118E	SOX4_ENST00000543472.1_Missense_Mutation_p.K118E	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	118					ascending aorta morphogenesis (GO:0035910)|atrial septum primum morphogenesis (GO:0003289)|canonical Wnt signaling pathway (GO:0060070)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle formation (GO:0003211)|cellular response to glucose stimulus (GO:0071333)|DNA damage response, detection of DNA damage (GO:0042769)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endocrine pancreas development (GO:0031018)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|kidney morphogenesis (GO:0060993)|limb bud formation (GO:0060174)|mitral valve morphogenesis (GO:0003183)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|noradrenergic neuron differentiation (GO:0003357)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin secretion (GO:0032024)|positive regulation of N-terminal peptidyl-lysine acetylation (GO:2000761)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of Wnt signaling pathway (GO:0030177)|pro-B cell differentiation (GO:0002328)|protein stabilization (GO:0050821)|regulation of protein stability (GO:0031647)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spinal cord development (GO:0021510)|spinal cord motor neuron differentiation (GO:0021522)|sympathetic nervous system development (GO:0048485)|T cell differentiation (GO:0030217)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|nucleic acid binding transcription factor activity (GO:0001071)|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 transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			GCTGCGCCTCAAGCACATGGC	0.622																																						ENST00000244745.1																			0				kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6						c.(352-354)Aag>Gag		SRY (sex determining region Y)-box 4							26.0	29.0	28.0					6																	21595117		2203	4300	6503	SO:0001583	missense	6659				canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity	g.chr6:21595117A>G	AF070669	CCDS4547.1	6p22.3	2008-02-05			ENSG00000124766	ENSG00000124766		"""SRY (sex determining region Y)-boxes"""	11200	protein-coding gene	gene with protein product		184430				8268656, 9730625	Standard	NM_003107		Approved		uc003ndi.3	Q06945	OTTHUMG00000016101	ENST00000244745.1:c.352A>G	6.37:g.21595117A>G	ENSP00000244745:p.Lys118Glu					SOX4_ENST00000543472.1_Missense_Mutation_p.K118E	p.K118E	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	all cancers(50;0.0751)|Epithelial(50;0.155)		1	1146	+	Ovarian(93;0.163)		118						Missense_Mutation	SNP	ENST00000244745.1	37	c.352A>G	CCDS4547.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.259908	0.59321	.	.	ENSG00000124766	ENST00000244745;ENST00000543472	D;D	0.97888	-4.59;-4.59	4.98	3.82	0.43975	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.64402	U	0.000001	D	0.93746	0.8001	N	0.22421	0.69	0.52501	D	0.999955	P	0.37233	0.588	P	0.47786	0.557	D	0.92399	0.5928	10	0.51188	T	0.08	.	9.6501	0.39892	0.9153:0.0:0.0847:0.0	.	118	Q06945	SOX4_HUMAN	E	118	ENSP00000244745:K118E;ENSP00000438412:K118E	ENSP00000244745:K118E	K	+	1	0	SOX4	21703096	1.000000	0.71417	0.998000	0.56505	0.562000	0.35680	5.716000	0.68437	0.732000	0.32470	0.454000	0.30748	AAG		0.622	SOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043301.1	NM_003107		9	25	0	0	0	1	0	9	25				
LRRC3	81543	broad.mit.edu	37	21	45876948	45876948	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr21:45876948C>T	ENST00000291592.4	+	2	738	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	LRRC3-AS1_ENST00000426578.1_RNA|LRRC3DN_ENST00000596691.1_5'Flank	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	141						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		CGCCAAGATACGCCTGTCCCA	0.672																																						ENST00000291592.4																			0				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						c.(421-423)Cgc>Tgc		leucine rich repeat containing 3							40.0	42.0	41.0					21																	45876948		2203	4300	6503	SO:0001583	missense	81543					integral to membrane	protein binding	g.chr21:45876948C>T	AB058646	CCDS13711.1	21q22.3	2011-12-07	2002-06-20		ENSG00000160233	ENSG00000160233			14965	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 102"""	C21orf102		12036297	Standard	NM_030891		Approved		uc002zfa.3	Q9BY71	OTTHUMG00000040847	ENST00000291592.4:c.421C>T	21.37:g.45876948C>T	ENSP00000291592:p.Arg141Cys						p.R141C	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)	2	738	+		Breast(209;0.00908)	141					Q0VDJ2	Missense_Mutation	SNP	ENST00000291592.4	37	c.421C>T	CCDS13711.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163856	0.78226	.	.	ENSG00000160233	ENST00000291592	D	0.90385	-2.66	4.82	4.82	0.62117	.	0.186781	0.46758	D	0.000271	D	0.93344	0.7878	L	0.54323	1.7	0.58432	D	0.999997	D	0.89917	1.0	D	0.63703	0.917	D	0.92710	0.6182	10	0.39692	T	0.17	-60.251	17.9134	0.88942	0.0:1.0:0.0:0.0	.	141	Q9BY71	LRRC3_HUMAN	C	141	ENSP00000291592:R141C	ENSP00000291592:R141C	R	+	1	0	LRRC3	44701376	0.967000	0.33354	1.000000	0.80357	0.988000	0.76386	0.761000	0.26489	2.397000	0.81536	0.561000	0.74099	CGC		0.672	LRRC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098095.3			9	76	0	0	0	1	0	9	76				
TMC2	117532	broad.mit.edu	37	20	2591146	2591146	+	Missense_Mutation	SNP	C	C	T	rs372275239		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr20:2591146C>T	ENST00000358864.1	+	12	1510	c.1495C>T	c.(1495-1497)Cgc>Tgc	p.R499C	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	499					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTACCACCCACGCACTGGACT	0.532																																						ENST00000358864.1																			0				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1495-1497)Cgc>Tgc		transmembrane channel-like 2		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	235.0	195.0	209.0		1495	5.2	1.0	20		209	0,8600		0,0,4300	no	missense	TMC2	NM_080751.2	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	499/907	2591146	1,13005	2203	4300	6503	SO:0001583	missense	117532					integral to membrane		g.chr20:2591146C>T	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.1495C>T	20.37:g.2591146C>T	ENSP00000351732:p.Arg499Cys					TMC2_ENST00000496948.1_3'UTR	p.R499C	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN			12	1510	+			499					Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	c.1495C>T	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931469	0.92389	2.27E-4	0.0	ENSG00000149488	ENST00000358864	T	0.50001	0.76	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.73860	0.3641	M	0.88979	2.995	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.932;0.998;0.988;0.985	T	0.78674	-0.2112	10	0.62326	D	0.03	-14.5032	16.6349	0.85050	0.0:1.0:0.0:0.0	.	330;331;499;499	B4DFB3;B7ZAE6;Q8TDI7-3;Q8TDI7	.;.;.;TMC2_HUMAN	C	499	ENSP00000351732:R499C	ENSP00000351732:R499C	R	+	1	0	TMC2	2539146	1.000000	0.71417	0.985000	0.45067	0.980000	0.70556	7.757000	0.85209	2.601000	0.87937	0.650000	0.86243	CGC		0.532	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			12	148	0	0	0	1	0	12	148				
ARAP1	116985	broad.mit.edu	37	11	72398486	72398486	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:72398486G>A	ENST00000393609.3	-	33	4385	c.4183C>T	c.(4183-4185)Cag>Tag	p.Q1395*	ARAP1_ENST00000393605.3_Nonsense_Mutation_p.Q1155*|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000359373.5_Nonsense_Mutation_p.Q1384*|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000455638.2_Nonsense_Mutation_p.Q1384*|ARAP1_ENST00000426523.1_Nonsense_Mutation_p.Q1139*|ARAP1_ENST00000429686.1_Nonsense_Mutation_p.Q1078*|ARAP1_ENST00000334211.8_Nonsense_Mutation_p.Q1150*	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1395	PH 4. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CCTGGTACCTGCACAAACAGA	0.577																																					Ovarian(102;1198 1520 13195 17913 37529)	ENST00000359373.5																			0				cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						c.(4150-4152)Cag>Tag		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1							137.0	107.0	117.0					11																	72398486		2200	4293	6493	SO:0001587	stop_gained	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72398486G>A	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.4183C>T	11.37:g.72398486G>A	ENSP00000377233:p.Gln1395*					ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000334211.8_Nonsense_Mutation_p.Q1150*|ARAP1_ENST00000455638.2_Nonsense_Mutation_p.Q1384*|ARAP1_ENST00000426523.1_Nonsense_Mutation_p.Q1139*|ARAP1_ENST00000393609.3_Nonsense_Mutation_p.Q1395*|ARAP1_ENST00000393605.3_Nonsense_Mutation_p.Q1155*|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000429686.1_Nonsense_Mutation_p.Q1078*	p.Q1384*			Q96P48	ARAP1_HUMAN			32	5001	-			1395			PH 4.		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Nonsense_Mutation	SNP	ENST00000393609.3	37	c.4150C>T	CCDS41687.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.83|16.83	3.231317|3.231317	0.58777|0.58777	.|.	.|.	ENSG00000186635|ENSG00000186635	ENST00000536885|ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000542596	.|.	.|.	.|.	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.71443|.	0.3340|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.75227|.	-0.3392|.	3|.	.|0.41790	.|T	.|0.15	.|.	15.8411|15.8411	0.78845|0.78845	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	47|1384;1384;1155;1150;1395;1139;1078;188	.|.	.|ENSP00000335506:Q1150X	A|Q	-|-	2|1	0|0	ARAP1|ARAP1	72076134|72076134	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.470000|0.470000	0.32858|0.32858	6.755000|6.755000	0.74914|0.74914	2.400000|2.400000	0.81607|0.81607	0.655000|0.655000	0.94253|0.94253	GCA|CAG		0.577	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		5	183	0	0	0	1	0	5	183				
CCDC22	28952	broad.mit.edu	37	X	49093692	49093692	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chrX:49093692C>T	ENST00000376227.3	+	2	360	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	CCDC22_ENST00000496651.1_3'UTR	NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	64										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						CATGTCTGCCCGGTTCCGCCT	0.592																																						ENST00000376227.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						c.(190-192)Cgg>Tgg		coiled-coil domain containing 22							76.0	55.0	62.0					X																	49093692		2203	4300	6503	SO:0001583	missense	28952							g.chrX:49093692C>T	BC000972	CCDS14322.1	Xp11.23	2008-02-05	2005-07-24	2005-07-24	ENSG00000101997	ENSG00000101997			28909	protein-coding gene	gene with protein product		300859	"""chromosome X open reading frame 37"""	CXorf37		12477932	Standard	NM_014008		Approved	JM1	uc004dnd.2	O60826	OTTHUMG00000024141	ENST00000376227.3:c.190C>T	X.37:g.49093692C>T	ENSP00000365401:p.Arg64Trp					CCDC22_ENST00000496651.1_3'UTR	p.R64W	NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN			2	360	+			64					A8K7G1	Missense_Mutation	SNP	ENST00000376227.3	37	c.190C>T	CCDS14322.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.482347	0.84747	.	.	ENSG00000101997	ENST00000376227;ENST00000538876	.	.	.	5.36	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.79149	0.4397	M	0.81802	2.56	0.45427	D	0.998403	D;D	0.89917	1.0;1.0	D;D	0.80764	0.991;0.994	T	0.81879	-0.0730	9	0.87932	D	0	-7.6559	13.6852	0.62511	0.1554:0.8446:0.0:0.0	.	64;64	B4DLA4;O60826	.;CCD22_HUMAN	W	64	.	ENSP00000365401:R64W	R	+	1	2	CCDC22	48980636	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.118000	0.57884	1.058000	0.40530	0.425000	0.28330	CGG		0.592	CCDC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060822.1	NM_014008		24	33	0	0	0	1	0	24	33				
AQP3	360	broad.mit.edu	37	9	33442900	33442900	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr9:33442900C>T	ENST00000297991.4	-	4	522	c.442G>A	c.(442-444)Gct>Act	p.A148T	AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)	148					excretion (GO:0007588)|odontogenesis (GO:0042476)|positive regulation of immune system process (GO:0002684)|regulation of keratinocyte differentiation (GO:0045616)|renal water absorption (GO:0070295)|response to calcium ion (GO:0051592)|response to retinoic acid (GO:0032526)|response to vitamin D (GO:0033280)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urea transport (GO:0015840)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|transporter activity (GO:0005215)|water channel activity (GO:0015250)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		GGGTAGGTAGCAAAGATGCCG	0.562																																						ENST00000297991.4																			0				endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8						c.(442-444)Gct>Act		aquaporin 3 (Gill blood group)							154.0	151.0	152.0					9																	33442900		2203	4300	6503	SO:0001583	missense	360				excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity	g.chr9:33442900C>T		CCDS6542.1	9p13	2014-07-18	2006-02-23		ENSG00000165272	ENSG00000165272		"""Ion channels / Aquaporins"", ""Blood group antigens"""	636	protein-coding gene	gene with protein product	"""Gill blood group"""	600170	"""aquaporin 3"", ""aquaporin 3 (GIL blood group)"""			7558005	Standard	NM_004925		Approved	GIL	uc003zsx.3	Q92482	OTTHUMG00000019769	ENST00000297991.4:c.442G>A	9.37:g.33442900C>T	ENSP00000297991:p.Ala148Thr					AQP3_ENST00000493581.1_5'UTR	p.A148T	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)	4	522	-			148					A8K843|B2RE16|D3DRL3|O00108|Q6FGT2|Q6FGW6	Missense_Mutation	SNP	ENST00000297991.4	37	c.442G>A	CCDS6542.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553822	0.86231	.	.	ENSG00000165272	ENST00000297991;ENST00000343952	T	0.12465	2.68	5.91	5.91	0.95273	Aquaporin-like (2);	0.096129	0.64402	D	0.000001	T	0.28699	0.0711	M	0.71036	2.16	0.80722	D	1	P;P	0.44816	0.844;0.461	P;P	0.51777	0.679;0.467	T	0.00309	-1.1828	10	0.56958	D	0.05	-0.0036	13.4829	0.61348	0.0:0.9291:0.0:0.0708	.	148;148	C9JAH5;Q92482	.;AQP3_HUMAN	T	148	ENSP00000297991:A148T	ENSP00000297991:A148T	A	-	1	0	AQP3	33432900	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.896000	0.63222	2.793000	0.96121	0.655000	0.94253	GCT		0.562	AQP3-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052055.1	NM_004925		6	209	0	0	0	1	0	6	209				
SIRPA	140885	broad.mit.edu	37	20	1905410	1905410	+	Splice_Site	SNP	A	A	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr20:1905410A>G	ENST00000358771.4	+	5	1240	c.1088A>G	c.(1087-1089)gAg>gGg	p.E363G	SIRPA_ENST00000400068.3_Splice_Site_p.E363G|SIRPA_ENST00000356025.3_Splice_Site_p.E363G	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	363					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		TGGTCCCTAGAGAACACTGGA	0.488																																					GBM(155;1668 1920 5945 42733 48121)	ENST00000358771.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.e5-1		signal-regulatory protein alpha							238.0	180.0	199.0					20																	1905410		2203	4300	6503	SO:0001630	splice_region_variant	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1905410A>G	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.1088-1A>G	20.37:g.1905410A>G						SIRPA_ENST00000400068.3_Splice_Site_p.E363_splice|SIRPA_ENST00000356025.3_Splice_Site_p.E363_splice	p.E363_splice	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	5	1240	+			363					A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Splice_Site	SNP	ENST00000358771.4	37	c.1087_splice	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	A	7.939	0.742379	0.15642	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.09350	2.99;2.99;2.99	4.36	-7.15	0.01521	Immunoglobulin-like fold (1);	2.085860	0.02101	N	0.053976	T	0.06690	0.0171	N	0.19112	0.55	0.09310	N	1	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.11329	0.006;0.001;0.001	T	0.27536	-1.0071	9	.	.	.	.	8.9705	0.35903	0.2123:0.2598:0.5279:0.0	.	343;363;363	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	G	363	ENSP00000382941:E363G;ENSP00000348307:E363G;ENSP00000351621:E363G	.	E	+	2	0	SIRPA	1853410	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	-0.299000	0.08254	-1.636000	0.01533	-0.353000	0.07706	GAG		0.488	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792	Missense_Mutation	4	57	0	0	0	1	0	4	57				
FRG1B	284802	broad.mit.edu	37	20	29625905	29625905	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr20:29625905T>C	ENST00000278882.3	+	5	529	c.149T>C	c.(148-150)cTt>cCt	p.L50P	FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P|FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	50								p.L50P(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGAAAATATCTTGGTATAAAT	0.333																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L50P(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(148-150)cTt>cCt																																						SO:0001583	missense	0							g.chr20:29625905T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.149T>C	20.37:g.29625905T>C	ENSP00000278882:p.Leu50Pro					FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P|FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P	p.L50P							5	529	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.149T>C		.	.	.	.	.	.	.	.	.	.	t	10.74	1.434729	0.25813	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.56611	0.45	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	55	F5H5R5	.	P	50;55;50	ENSP00000408863:L55P	ENSP00000278882:L50P	L	+	2	0	FRG1B	28239566	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	6.623000	0.74238	1.028000	0.39785	0.155000	0.16302	CTT		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	107	0	0	0	1	0	4	107				
ARHGEF3	50650	broad.mit.edu	37	3	56771305	56771305	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:56771305G>A	ENST00000296315.3	-	8	1117	c.949C>T	c.(949-951)Ctt>Ttt	p.L317F	ARHGEF3_ENST00000497267.1_Missense_Mutation_p.L288F|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.L317F|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.L349F|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.L323F|ARHGEF3_ENST00000413728.2_Missense_Mutation_p.L323F	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	317	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		AAGTAAAGAAGCCGCTCTTTA	0.428																																						ENST00000413728.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25						c.(967-969)Ctt>Ttt		Rho guanine nucleotide exchange factor (GEF) 3							68.0	70.0	69.0					3																	56771305		2203	4300	6503	SO:0001583	missense	50650				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr3:56771305G>A	AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"""Rho guanine nucleotide exchange factors"""	683	protein-coding gene	gene with protein product	"""exchange factor found in platelets and leukemic and neuronal tissues, XPLN"", ""RhoGEF protein"""	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.949C>T	3.37:g.56771305G>A	ENSP00000296315:p.Leu317Phe					ARHGEF3_ENST00000296315.3_Missense_Mutation_p.L317F|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.L349F|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.L288F|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.L317F|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.L323F	p.L323F	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)	8	1510	-			317			PH.		A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP	ENST00000296315.3	37	c.967C>T	CCDS2878.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593619	0.86953	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267;ENST00000495373	T;T;T;T;T;T	0.33216	1.5;1.43;1.42;1.44;1.43;1.6	5.93	5.93	0.95920	Dbl homology (DH) domain (1);Pleckstrin homology domain (2);	0.063289	0.64402	D	0.000005	T	0.51702	0.1690	M	0.75615	2.305	0.80722	D	1	D;D;D;D;D;D;D	0.63046	0.986;0.986;0.992;0.986;0.992;0.986;0.992	P;P;P;P;P;P;P	0.60789	0.699;0.76;0.879;0.699;0.842;0.699;0.842	T	0.50759	-0.8790	10	0.54805	T	0.06	-8.5638	13.531	0.61621	0.0709:0.0:0.9291:0.0	.	323;288;115;317;349;317;323	E9PG37;E7EU49;Q9NR81-4;C9J586;Q9NR81-2;Q9NR81;Q9NR81-3	.;.;.;.;.;ARHG3_HUMAN;.	F	317;349;323;323;288;317	ENSP00000296315:L317F;ENSP00000341071:L349F;ENSP00000410922:L323F;ENSP00000420420:L323F;ENSP00000418826:L288F;ENSP00000417986:L317F	ENSP00000296315:L317F	L	-	1	0	ARHGEF3	56746345	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.916000	0.87491	2.821000	0.97095	0.555000	0.69702	CTT		0.428	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352431.2	NM_019555		14	71	0	0	0	1	0	14	71				
NCOA6	23054	broad.mit.edu	37	20	33345723	33345723	+	Silent	SNP	C	C	T	rs546356291	byFrequency	TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr20:33345723C>T	ENST00000374796.2	-	8	3398	c.828G>A	c.(826-828)caG>caA	p.Q276Q	NCOA6_ENST00000359003.2_Silent_p.Q276Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	276	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgttgttgctgctgctgct	0.537													C|||	3	0.000599042	0.0	0.0	5008	,	,		18338	0.002		0.0	False		,,,				2504	0.001					ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(826-828)caG>caA		nuclear receptor coactivator 6							93.0	71.0	78.0					20																	33345723		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345723C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.828G>A	20.37:g.33345723C>T						NCOA6_ENST00000359003.2_Silent_p.Q276Q	p.Q276Q			Q14686	NCOA6_HUMAN			8	3398	-			276			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.828G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		4	70	0	0	0	1	0	4	70				
CBL	867	broad.mit.edu	37	11	119103190	119103190	+	Silent	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:119103190G>A	ENST00000264033.4	+	2	604	c.228G>A	c.(226-228)gcG>gcA	p.A76A		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	76	4H.|Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|Sufficient for interaction with EPHB1.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CAAAGCTGGCGCTAAAGAATA	0.433			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													ENST00000264033.4				"""Dom, Rec"""	yes		11	11q23.3	867	"""T, Mis S, O"""	Cas-Br-M (murine) ecotropic retroviral transforming			L	MLL		"""AML, JMML, MDS"""		0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251						c.(226-228)gcG>gcA		Cbl proto-oncogene, E3 ubiquitin protein ligase							69.0	70.0	70.0					11																	119103190		2199	4295	6494	SO:0001819	synonymous_variant	867	Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119103190G>A	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.228G>A	11.37:g.119103190G>A							p.A76A	NM_005188.3	NP_005179.2	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	2	604	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	76			4H.|Cbl-PTB.		A3KMP8	Silent	SNP	ENST00000264033.4	37	c.228G>A	CCDS8418.1																																																																																				0.433	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		11	87	0	0	0	1	0	11	87				
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	lincRNA	SNP	A	A	G	rs201023195		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713774A>G																													1.37:g.142713774A>G														0	831	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			5	68	0	0	0	1	0	5	68				
KDM4E	390245	broad.mit.edu	37	11	94759275	94759275	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:94759275C>T	ENST00000450979.2	+	1	854	c.554C>T	c.(553-555)aCg>aTg	p.T185M		NM_001161630.1	NP_001155102.1	B2RXH2	KDM4E_HUMAN	lysine (K)-specific demethylase 4E	185	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K9 demethylation (GO:0033169)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						TGGAAGACCACGTTTGCCTGG	0.537																																						ENST00000450979.2																			0				breast(1)|endometrium(7)|kidney(1)|lung(3)	12						c.(553-555)aCg>aTg		lysine (K)-specific demethylase 4E							93.0	83.0	86.0					11																	94759275		692	1591	2283	SO:0001583	missense	390245				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94759275C>T	BC157851	CCDS44713.1	11q21	2012-03-30	2012-03-28	2012-03-28		ENSG00000235268		"""Chromatin-modifying enzymes / K-demethylases"""	37098	protein-coding gene	gene with protein product			"""lysine (K)-specific demethylase 4D-like"""	KDM4DL		21076780	Standard	NM_001161630		Approved	JMJD2E	uc010ruf.1	B2RXH2		ENST00000450979.2:c.554C>T	11.37:g.94759275C>T	ENSP00000397239:p.Thr185Met						p.T185M	NM_001161630.1	NP_001155102.1	B2RXH2	KD4DL_HUMAN			1	854	+			185			JmjC.			Missense_Mutation	SNP	ENST00000450979.2	37	c.554C>T	CCDS44713.1	.	.	.	.	.	.	.	.	.	.	c	12.54	1.969711	0.34754	.	.	ENSG00000235268	ENST00000450979	T	0.71934	-0.61	2.18	2.18	0.27775	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	.	.	.	.	T	0.79482	0.4453	M	0.62088	1.915	0.36090	D	0.843389	D	0.89917	1.0	D	0.91635	0.999	T	0.82908	-0.0224	9	0.56958	D	0.05	-11.5244	10.4356	0.44433	0.0:1.0:0.0:0.0	.	185	B2RXH2	KD4DL_HUMAN	M	185	ENSP00000397239:T185M	ENSP00000397239:T185M	T	+	2	0	KDM4DL	94398923	0.310000	0.24527	0.339000	0.25562	0.238000	0.25445	5.033000	0.64146	1.543000	0.49345	0.455000	0.32223	ACG		0.537	KDM4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396649.1	NM_001161630		4	146	0	0	0	1	0	4	146				
LOC101927905	101927905	broad.mit.edu	37	12	8386973	8386973	+	lincRNA	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr12:8386973C>T	ENST00000304751.9	+	0	0				FAM86FP_ENST00000427893.2_RNA																							AGCCAGCCTCCGCAGGACCCC	0.592													.|||	4	0.000798722	0.0008	0.0029	5008	,	,		-128	0.0		0.001	False		,,,				2504	0.0					ENST00000427893.2																			0																																																			0							g.chr12:8386973C>T																													12.37:g.8386973C>T														0	793	-									RNA	SNP	ENST00000304751.9	37																																																																																						0.592	RP11-266K4.9-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000400464.1			5	165	0	0	0	1	0	5	165				
UBE3C	9690	broad.mit.edu	37	7	157000121	157000121	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr7:157000121C>T	ENST00000348165.5	+	12	1808	c.1448C>T	c.(1447-1449)tCc>tTc	p.S483F		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	483					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CAGGTGATATCCAGGGGTTCT	0.338																																						ENST00000348165.5																			0				central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63						c.(1447-1449)tCc>tTc		ubiquitin protein ligase E3C							178.0	174.0	175.0					7																	157000121		2203	4300	6503	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:157000121C>T	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1448C>T	7.37:g.157000121C>T	ENSP00000309198:p.Ser483Phe						p.S483F	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	12	1808	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	483					A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.1448C>T	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675483	0.88445	.	.	ENSG00000009335	ENST00000348165	T	0.52754	0.65	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.69378	0.3104	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.972	T	0.72629	-0.4235	10	0.72032	D	0.01	.	18.8496	0.92222	0.0:1.0:0.0:0.0	.	483;483	Q15386;Q15386-2	UBE3C_HUMAN;.	F	483	ENSP00000309198:S483F	ENSP00000309198:S483F	S	+	2	0	UBE3C	156692882	1.000000	0.71417	0.925000	0.36789	0.953000	0.61014	7.207000	0.77899	2.450000	0.82876	0.655000	0.94253	TCC		0.338	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		32	49	0	0	0	1	0	32	49				
CNTN6	27255	broad.mit.edu	37	3	1427358	1427358	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:1427358G>A	ENST00000446702.2	+	20	3208	c.2581G>A	c.(2581-2583)Gtc>Atc	p.V861I	CNTN6_ENST00000350110.2_Missense_Mutation_p.V861I|CNTN6_ENST00000539053.1_Missense_Mutation_p.V789I			Q9UQ52	CNTN6_HUMAN	contactin 6	861	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CAGTGGAAATGTCACAACCAA	0.418																																						ENST00000446702.2																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(2581-2583)Gtc>Atc		contactin 6							166.0	174.0	171.0					3																	1427358		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1427358G>A	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2581G>A	3.37:g.1427358G>A	ENSP00000407822:p.Val861Ile					CNTN6_ENST00000350110.2_Missense_Mutation_p.V861I|CNTN6_ENST00000539053.1_Missense_Mutation_p.V789I	p.V861I			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	20	3208	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	861			Fibronectin type-III 3.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.2581G>A	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886373	0.33348	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.57273	0.41;0.41;0.41	5.75	-1.4	0.08968	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.363784	0.23369	N	0.048937	T	0.35248	0.0925	L	0.33485	1.01	0.09310	N	1	B	0.09022	0.002	B	0.17098	0.017	T	0.20806	-1.0264	10	0.38643	T	0.18	.	8.1467	0.31115	0.4958:0.1058:0.3984:0.0	.	861	Q9UQ52	CNTN6_HUMAN	I	861;789;861	ENSP00000407822:V861I;ENSP00000442791:V789I;ENSP00000341882:V861I	ENSP00000341882:V861I	V	+	1	0	CNTN6	1402358	0.001000	0.12720	0.773000	0.31616	0.974000	0.67602	-0.450000	0.06803	-0.110000	0.12022	-0.143000	0.13931	GTC		0.418	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		21	171	0	0	0	1	0	21	171				
EMR1	2015	broad.mit.edu	37	19	6924761	6924761	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr19:6924761G>A	ENST00000312053.4	+	15	1901	c.1864G>A	c.(1864-1866)Gcc>Acc	p.A622T	EMR1_ENST00000381407.5_Missense_Mutation_p.A481T|EMR1_ENST00000450315.3_Missense_Mutation_p.A445T|EMR1_ENST00000250572.8_Intron|EMR1_ENST00000381404.4_Missense_Mutation_p.A570T	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	622					cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CTTGGCCATCGCCACCTTTCT	0.527																																						ENST00000312053.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62						c.(1864-1866)Gcc>Acc		egf-like module containing, mucin-like, hormone receptor-like 1							247.0	160.0	189.0					19																	6924761		2203	4300	6503	SO:0001583	missense	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6924761G>A	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1864G>A	19.37:g.6924761G>A	ENSP00000311545:p.Ala622Thr					EMR1_ENST00000450315.3_Missense_Mutation_p.A445T|EMR1_ENST00000381404.4_Missense_Mutation_p.A570T|EMR1_ENST00000381407.5_Missense_Mutation_p.A481T|EMR1_ENST00000250572.8_Intron	p.A622T	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN			15	1901	+	all_hematologic(4;0.166)		622					A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	c.1864G>A	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.377049	0.24857	.	.	ENSG00000174837	ENST00000312053;ENST00000381404;ENST00000381407;ENST00000450315	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	3.48	-3.1	0.05315	GPCR, family 2-like (1);	.	.	.	.	T	0.18173	0.0436	L	0.31371	0.925	0.19575	N	0.999963	B;B;P;B	0.40731	0.231;0.452;0.728;0.393	B;B;B;B	0.33454	0.013;0.068;0.164;0.05	T	0.11717	-1.0576	9	0.46703	T	0.11	.	4.1501	0.10234	0.4632:0.18:0.3568:0.0	.	445;481;570;622	E7EPX9;B7Z486;E9PD45;Q14246	.;.;.;EMR1_HUMAN	T	622;570;481;445	ENSP00000311545:A622T;ENSP00000370811:A570T;ENSP00000370814:A481T;ENSP00000405974:A445T	ENSP00000311545:A622T	A	+	1	0	EMR1	6875761	0.000000	0.05858	0.016000	0.15963	0.649000	0.38597	-0.879000	0.04188	-0.524000	0.06400	-0.254000	0.11334	GCC		0.527	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			4	96	0	0	0	1	0	4	96				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		5	48	0	0	0	1	0	5	48				
CIC	23152	broad.mit.edu	37	19	42799051	42799051	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr19:42799051G>T	ENST00000575354.2	+	20	4575	c.4535G>T	c.(4534-4536)cGt>cTt	p.R1512L	CIC_ENST00000572681.2_Missense_Mutation_p.R2418L|CIC_ENST00000160740.3_Missense_Mutation_p.R1510L	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1512					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TTGAAGATCCGTGAGGTGCGC	0.627			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(7252-7254)cGt>cTt		capicua transcriptional repressor							51.0	51.0	51.0					19																	42799051		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42799051G>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.4535G>T	19.37:g.42799051G>T	ENSP00000458663:p.Arg1512Leu					CIC_ENST00000160740.3_Missense_Mutation_p.R1510L|CIC_ENST00000575354.2_Missense_Mutation_p.R1512L	p.R2418L			Q96RK0	CIC_HUMAN			21	7321	+		Prostate(69;0.00682)	1512					Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.7253G>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488509	0.84854	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.49	4.49	0.54785	.	.	.	.	.	T	0.64875	0.2638	L	0.29908	0.895	0.48901	D	0.999725	D	0.65815	0.995	D	0.70227	0.968	T	0.68712	-0.5336	8	0.87932	D	0	-6.0224	15.0527	0.71888	0.0:0.0:1.0:0.0	.	1512	Q96RK0	CIC_HUMAN	L	1512	.	ENSP00000160740:R1512L	R	+	2	0	CIC	47490891	1.000000	0.71417	0.993000	0.49108	0.974000	0.67602	8.215000	0.89762	2.513000	0.84729	0.491000	0.48974	CGT		0.627	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			62	6	1	0	5.82089e-37	1	5.87581e-37	62	6				
DNAH8	1769	broad.mit.edu	37	6	38773314	38773314	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr6:38773314A>G	ENST00000359357.3	+	21	2695	c.2441A>G	c.(2440-2442)tAt>tGt	p.Y814C	DNAH8_ENST00000449981.2_Missense_Mutation_p.Y1031C|DNAH8_ENST00000441566.1_Missense_Mutation_p.Y814C			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	814					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AACAATGACTATGAAGCTAAT	0.303																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(2440-2442)tAt>tGt		dynein, axonemal, heavy chain 8							106.0	103.0	104.0					6																	38773314		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38773314A>G	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.2441A>G	6.37:g.38773314A>G	ENSP00000352312:p.Tyr814Cys					DNAH8_ENST00000449981.2_Missense_Mutation_p.Y1031C|DNAH8_ENST00000441566.1_Missense_Mutation_p.Y814C	p.Y814C							21	2695	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.2441A>G		.	.	.	.	.	.	.	.	.	.	A	13.42	2.231670	0.39399	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.25085	1.86;1.85;1.82	5.45	-1.49	0.08718	.	0.116963	0.37012	N	0.002282	T	0.03136	0.0092	N	0.14661	0.345	0.09310	N	1	B	0.28760	0.221	B	0.27170	0.077	T	0.34354	-0.9832	10	0.35671	T	0.21	.	1.6515	0.02773	0.2673:0.2537:0.0781:0.401	.	814	Q96JB1	DYH8_HUMAN	C	1019;1019;814;814	ENSP00000333363:Y1019C;ENSP00000352312:Y814C;ENSP00000402294:Y814C	ENSP00000333363:Y1019C	Y	+	2	0	DNAH8	38881292	0.003000	0.15002	0.243000	0.24186	0.542000	0.35054	-0.112000	0.10791	-0.156000	0.11079	0.533000	0.62120	TAT		0.303	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		4	75	0	0	0	1	0	4	75				
CATSPERB	79820	broad.mit.edu	37	14	92083964	92083964	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr14:92083964C>T	ENST00000256343.3	-	20	2533	c.2377G>A	c.(2377-2379)Gca>Aca	p.A793T		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	793					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TTGCTAGCTGCAGAAATTGTT	0.299																																						ENST00000256343.3																			0				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54						c.(2377-2379)Gca>Aca		catsper channel auxiliary subunit beta							78.0	72.0	74.0					14																	92083964		2201	4298	6499	SO:0001583	missense	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92083964C>T	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.2377G>A	14.37:g.92083964C>T	ENSP00000256343:p.Ala793Thr						p.A793T	NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN			20	2533	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	793					A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	c.2377G>A	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583654	0.46006	.	.	ENSG00000133962	ENST00000256343	T	0.44881	0.91	5.44	-0.938	0.10412	.	2.577270	0.01550	N	0.019654	T	0.28200	0.0696	N	0.25647	0.755	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.08827	-1.0703	10	0.38643	T	0.18	-0.8415	1.7742	0.03018	0.1303:0.4503:0.1266:0.2928	.	793	Q9H7T0	CTSRB_HUMAN	T	793	ENSP00000256343:A793T	ENSP00000256343:A793T	A	-	1	0	CATSPERB	91153717	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.672000	0.05244	-0.380000	0.07894	0.467000	0.42956	GCA		0.299	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		3	36	0	0	0	1	0	3	36				
TYSND1	219743	broad.mit.edu	37	10	71899723	71899723	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr10:71899723C>T	ENST00000287078.6	-	4	1657	c.1658G>A	c.(1657-1659)cGg>cAg	p.R553Q	TYSND1_ENST00000494143.1_5'UTR|TYSND1_ENST00000335494.5_3'UTR	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	553					protein homooligomerization (GO:0051260)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of fatty acid beta-oxidation (GO:0031998)	membrane (GO:0016020)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						CCGCTGCAACCGCCACACCAC	0.627																																						ENST00000287078.6																			0				endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						c.(1657-1659)cGg>cAg		trypsin domain containing 1							55.0	58.0	57.0					10																	71899723		2203	4300	6503	SO:0001583	missense	219743				proteolysis	peroxisome	serine-type endopeptidase activity	g.chr10:71899723C>T	BC016840	CCDS31213.1, CCDS31214.1	10q22.1	2009-11-06		2006-09-21	ENSG00000156521	ENSG00000156521			28531	protein-coding gene	gene with protein product		611017				17255948	Standard	NM_173555		Approved	MGC34695, NET41	uc001jqr.4	Q2T9J0	OTTHUMG00000018397	ENST00000287078.6:c.1658G>A	10.37:g.71899723C>T	ENSP00000287078:p.Arg553Gln					TYSND1_ENST00000494143.1_5'UTR|TYSND1_ENST00000335494.5_3'UTR	p.R553Q	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN			4	1657	-			553					Q5SQT4|Q5SQU1|Q8N6H2|Q96AR5	Missense_Mutation	SNP	ENST00000287078.6	37	c.1658G>A	CCDS31213.1	.	.	.	.	.	.	.	.	.	.	C	36	5.603079	0.96614	.	.	ENSG00000156521	ENST00000287078	T	0.48201	0.82	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.66684	0.2814	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.65656	-0.6115	10	0.72032	D	0.01	-37.5121	19.2273	0.93822	0.0:1.0:0.0:0.0	.	553	Q2T9J0	TYSD1_HUMAN	Q	553	ENSP00000287078:R553Q	ENSP00000287078:R553Q	R	-	2	0	TYSND1	71569729	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	4.870000	0.63035	2.894000	0.99253	0.655000	0.94253	CGG		0.627	TYSND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048483.1	NM_173555		6	92	0	0	0	1	0	6	92				
NBPF10	100132406	broad.mit.edu	37	1	145293478	145293478	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr1:145293478C>T	ENST00000369339.3	+	3	326	c.73C>T	c.(73-75)Cgc>Tgc	p.R25C	NBPF10_ENST00000342960.5_Missense_Mutation_p.R25C|NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	296						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CGAGACATTGCGCCCCCAGCT	0.502																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(73-75)Cgc>Tgc		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145293478C>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.73C>T	1.37:g.145293478C>T	ENSP00000358345:p.Arg25Cys					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Missense_Mutation_p.R25C|RP11-458D21.5_ENST00000468030.1_3'UTR	p.R25C	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	1	108	+	all_hematologic(923;0.032)		25					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37	c.73C>T		.	.	.	.	.	.	.	.	.	.	.	7.184	0.590223	0.13812	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.03441	3.93	1.06	-1.21	0.09524	.	.	.	.	.	T	0.01092	0.0036	L	0.51914	1.62	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.44711	-0.9310	9	0.39692	T	0.17	.	3.9047	0.09177	0.0:0.4611:0.0:0.5389	.	25	A8MQ30	.	C	25	ENSP00000345684:R25C	ENSP00000345684:R25C	R	+	1	0	NBPF10	144004835	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.505000	0.06367	-0.464000	0.06963	0.184000	0.17185	CGC		0.502	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		6	946	0	0	0	1	0	6	946				
AADACL2	344752	broad.mit.edu	37	3	151475327	151475327	+	Missense_Mutation	SNP	G	G	A	rs373909154		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:151475327G>A	ENST00000356517.3	+	5	1260	c.1151G>A	c.(1150-1152)cGt>cAt	p.R384H	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	384						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTTTATTTACGTCTAGGTCTT	0.333													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19959	0.0		0.0	False		,,,				2504	0.0					ENST00000356517.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24						c.(1150-1152)cGt>cAt		arylacetamide deacetylase-like 2		G	HIS/ARG	0,4406		0,0,2203	81.0	84.0	83.0		1151	-3.5	0.0	3		83	1,8595	1.2+/-3.3	0,1,4297	no	missense	AADACL2	NM_207365.3	29	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign	384/402	151475327	1,13001	2203	4298	6501	SO:0001583	missense	344752					extracellular region|integral to membrane	carboxylesterase activity	g.chr3:151475327G>A	BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.1151G>A	3.37:g.151475327G>A	ENSP00000348911:p.Arg384His					RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	p.R384H	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		5	1260	+			384					Q5HYJ4	Missense_Mutation	SNP	ENST00000356517.3	37	c.1151G>A	CCDS3161.2	.	.	.	.	.	.	.	.	.	.	G	10.50	1.366462	0.24771	0.0	1.16E-4	ENSG00000197953	ENST00000356517	T	0.59638	0.25	5.15	-3.55	0.04639	.	1.518380	0.03127	N	0.164612	T	0.35595	0.0937	N	0.04018	-0.295	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30208	-0.9986	10	0.39692	T	0.17	-15.833	11.3473	0.49567	0.5341:0.0:0.4659:0.0	.	384	Q6P093	ADCL2_HUMAN	H	384	ENSP00000348911:R384H	ENSP00000348911:R384H	R	+	2	0	AADACL2	152958017	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	0.295000	0.19065	-0.385000	0.07833	-0.964000	0.02622	CGT		0.333	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	NM_207365		41	46	0	0	0	1	0	41	46				
POU4F3	5459	broad.mit.edu	37	5	145719841	145719841	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr5:145719841C>T	ENST00000230732.4	+	2	940	c.851C>T	c.(850-852)cCg>cTg	p.P284L	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	284					auditory receptor cell differentiation (GO:0042491)|axon extension (GO:0048675)|inner ear morphogenesis (GO:0042472)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCGCGGCGCCGGAGAAGCGT	0.582																																						ENST00000230732.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17						c.(850-852)cCg>cTg		POU class 4 homeobox 3							50.0	49.0	49.0					5																	145719841		2203	4300	6503	SO:0001583	missense	5459				sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:145719841C>T	U10060	CCDS4281.1	5q32	2011-06-20	2007-07-13		ENSG00000091010	ENSG00000091010		"""Homeoboxes / POU class"""	9220	protein-coding gene	gene with protein product		602460	"""POU domain class 4, transcription factor 3"""	DFNA15		9506947	Standard	NM_002700		Approved	BRN3C	uc003loa.2	Q15319	OTTHUMG00000129684	ENST00000230732.4:c.851C>T	5.37:g.145719841C>T	ENSP00000230732:p.Pro284Leu					CTC-359M8.1_ENST00000515598.1_RNA	p.P284L	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	940	+			284					O60557|Q2M3F8	Missense_Mutation	SNP	ENST00000230732.4	37	c.851C>T	CCDS4281.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.182505	0.57800	.	.	ENSG00000091010	ENST00000230732	D	0.95980	-3.87	4.62	4.62	0.57501	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.94308	0.8171	N	0.12182	0.205	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.95013	0.8153	10	0.87932	D	0	.	12.8228	0.57702	0.0:0.8342:0.1658:0.0	.	284	Q15319	PO4F3_HUMAN	L	284	ENSP00000230732:P284L	ENSP00000230732:P284L	P	+	2	0	POU4F3	145700034	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	7.629000	0.83207	2.372000	0.80975	0.462000	0.41574	CCG		0.582	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251887.2	NM_002700		11	80	0	0	0	1	0	11	80				
OR52K1	390036	broad.mit.edu	37	11	4510367	4510367	+	Silent	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:4510367G>A	ENST00000307632.3	+	1	259	c.237G>A	c.(235-237)acG>acA	p.T79T		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTTCTACAACGCTGCCCAAAA	0.483																																						ENST00000307632.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32						c.(235-237)acG>acA		olfactory receptor, family 52, subfamily K, member 1							133.0	109.0	117.0					11																	4510367		2201	4298	6499	SO:0001819	synonymous_variant	390036				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4510367G>A	AB065790	CCDS31352.1	11p15.4	2012-08-09			ENSG00000196778	ENSG00000196778		"""GPCR / Class A : Olfactory receptors"""	15222	protein-coding gene	gene with protein product							Standard	NM_001005171		Approved		uc001lza.2	Q8NGK4	OTTHUMG00000165705	ENST00000307632.3:c.237G>A	11.37:g.4510367G>A							p.T79T	NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	259	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	79					B9EH54|Q6IFK5	Silent	SNP	ENST00000307632.3	37	c.237G>A	CCDS31352.1																																																																																				0.483	OR52K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385846.1	NM_001005171		5	81	0	0	0	1	0	5	81				
CDKN1A	1026	broad.mit.edu	37	6	36653546	36653546	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr6:36653546G>A	ENST00000405375.1	+	3	699	c.464G>A	c.(463-465)cGc>cAc	p.R155H	CDKN1A_ENST00000448526.2_Missense_Mutation_p.R189H|CDKN1A_ENST00000244741.5_Missense_Mutation_p.R155H|CDKN1A_ENST00000373711.2_Missense_Mutation_p.R155H	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	155					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						CACTCCAAACGCCGGCTGATC	0.597																																						ENST00000405375.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						c.(463-465)cGc>cAc		cyclin-dependent kinase inhibitor 1A (p21, Cip1)							128.0	138.0	135.0					6																	36653546		2203	4300	6503	SO:0001583	missense	1026				cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding	g.chr6:36653546G>A	U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.464G>A	6.37:g.36653546G>A	ENSP00000384849:p.Arg155His					CDKN1A_ENST00000373711.2_Missense_Mutation_p.R155H|CDKN1A_ENST00000244741.5_Missense_Mutation_p.R155H|CDKN1A_ENST00000448526.2_Missense_Mutation_p.R189H	p.R155H	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN			3	699	+			155					Q14010|Q6FI05|Q9BUT4	Missense_Mutation	SNP	ENST00000405375.1	37	c.464G>A	CCDS4824.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634014	0.87660	.	.	ENSG00000124762	ENST00000448526;ENST00000244741;ENST00000405375;ENST00000373711	T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89	5.67	5.67	0.87782	.	0.000000	0.49305	D	0.000160	T	0.78457	0.4286	L	0.46157	1.445	0.48632	D	0.999689	D;D	0.89917	1.0;0.999	D;D	0.71656	0.974;0.959	T	0.80355	-0.1417	10	0.72032	D	0.01	-27.032	15.2608	0.73621	0.0:0.0:1.0:0.0	.	189;155	B4DQP9;P38936	.;CDN1A_HUMAN	H	189;155;155;155	ENSP00000409259:R189H;ENSP00000244741:R155H;ENSP00000384849:R155H;ENSP00000362815:R155H	ENSP00000244741:R155H	R	+	2	0	CDKN1A	36761524	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.794000	0.55492	2.686000	0.91538	0.561000	0.74099	CGC		0.597	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1	NM_078467		43	317	0	0	0	1	0	43	317				
SPATA13	221178	broad.mit.edu	37	13	24823639	24823639	+	5'UTR	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr13:24823639C>T	ENST00000382095.4	+	0	210				SPATA13_ENST00000424834.2_Nonsense_Mutation_p.R560*|RP11-307N16.6_ENST00000382141.4_Intron|SPATA13_ENST00000382108.3_Nonsense_Mutation_p.R560*|SPATA13_ENST00000474317.1_3'UTR	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13						cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		CCCCTGGAGGCGAAGCTCATC	0.537																																						ENST00000424834.2																			0				breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23						c.(1678-1680)Cga>Tga		spermatogenesis associated 13							18.0	21.0	20.0					13																	24823639		692	1591	2283	SO:0001623	5_prime_UTR_variant	221178				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity	g.chr13:24823639C>T	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.-198C>T	13.37:g.24823639C>T						SPATA13_ENST00000382108.3_Nonsense_Mutation_p.R560*|SPATA13_ENST00000382095.4_5'UTR	p.R560*			Q96N96	SPT13_HUMAN		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)	5	2151	+		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)	218			PH.		A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Nonsense_Mutation	SNP	ENST00000382095.4	37	c.1678C>T	CCDS9305.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.049323|6.049323	0.97236|0.97236	.|.	.|.	ENSG00000182957|ENSG00000182957	ENST00000424834|ENST00000382108	T|.	0.78595|.	-1.19|.	5.28|5.28	3.32|3.32	0.38043|0.38043	.|.	.|.	.|.	.|.	.|.	T|.	0.34106|.	0.0886|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.10042|.	-1.0647|.	5|.	.|0.05525	.|T	.|0.97	.|.	12.3113|12.3113	0.54929|0.54929	0.4089:0.5911:0.0:0.0|0.4089:0.5911:0.0:0.0	.|.	.|.	.|.	.|.	V|X	597|560	ENSP00000398560:A597V|.	.|ENSP00000371542:R560X	A|R	+|+	2|1	0|2	SPATA13|SPATA13	23721639|23721639	0.977000|0.977000	0.34250|0.34250	0.750000|0.750000	0.31169|0.31169	0.077000|0.077000	0.17291|0.17291	2.429000|2.429000	0.44758|0.44758	0.744000|0.744000	0.32741|0.32741	0.462000|0.462000	0.41574|0.41574	GCG|CGA		0.537	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023		8	1	0	0	0	1	0	8	1				
COL9A1	1297	broad.mit.edu	37	6	70993483	70993483	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr6:70993483C>T	ENST00000357250.6	-	6	895	c.737G>A	c.(736-738)cGg>cAg	p.R246Q	COL9A1_ENST00000370496.3_Missense_Mutation_p.R246Q|COL9A1_ENST00000370499.4_5'Flank|COL9A1_ENST00000320755.7_5'Flank	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	246	Nonhelical region (NC4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)	p.R246Q(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TCTCCTGGGCCGCAGGGGGTC	0.517																																						ENST00000357250.6																			1	Substitution - Missense(1)	p.R246Q(1)	large_intestine(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						c.(736-738)cGg>cAg		collagen, type IX, alpha 1							104.0	84.0	91.0					6																	70993483		2203	4300	6503	SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70993483C>T		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.737G>A	6.37:g.70993483C>T	ENSP00000349790:p.Arg246Gln					COL9A1_ENST00000370496.3_Missense_Mutation_p.R246Q	p.R246Q	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN			6	895	-			246			Nonhelical region (NC4).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.737G>A	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.905826	0.92107	.	.	ENSG00000112280	ENST00000357250;ENST00000370496	T;T	0.02067	4.47;4.47	5.56	5.56	0.83823	Concanavalin A-like lectin/glucanase (1);	0.000000	0.64402	D	0.000003	T	0.06645	0.0170	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.50988	-0.8762	10	0.23302	T	0.38	.	18.5065	0.90900	0.0:1.0:0.0:0.0	.	246	P20849	CO9A1_HUMAN	Q	246	ENSP00000349790:R246Q;ENSP00000359527:R246Q	ENSP00000349790:R246Q	R	-	2	0	COL9A1	71050204	1.000000	0.71417	0.806000	0.32338	0.858000	0.48976	5.735000	0.68587	2.633000	0.89246	0.655000	0.94253	CGG		0.517	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			4	16	0	0	0	1	0	4	16				
HADHA	3030	broad.mit.edu	37	2	26435460	26435460	+	Silent	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr2:26435460G>A	ENST00000380649.3	-	10	1083	c.954C>T	c.(952-954)gcC>gcT	p.A318A	HADHA_ENST00000457468.2_Silent_p.A231A	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	318					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGATAACCGGCATCACTCC	0.358																																						ENST00000380649.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30						c.(952-954)gcC>gcT		hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	NADH(DB00157)						124.0	115.0	118.0					2																	26435460		2203	4300	6503	SO:0001819	synonymous_variant	3030				fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding	g.chr2:26435460G>A	D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"""gastrin-binding protein"", ""long-chain-3-hydroxyacyl-CoA dehydrogenase"", ""long-chain 2-enoyl-CoA hydratase"", ""mitochondrial trifunctional protein, alpha subunit"""	600890	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"""			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.954C>T	2.37:g.26435460G>A						HADHA_ENST00000457468.2_Silent_p.A231A	p.A318A	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN			10	1083	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		318					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Silent	SNP	ENST00000380649.3	37	c.954C>T	CCDS1721.1																																																																																				0.358	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182		6	121	0	0	0	1	0	6	121				
PHF8	23133	broad.mit.edu	37	X	53966856	53966856	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chrX:53966856G>C	ENST00000357988.5	-	21	3209	c.2851C>G	c.(2851-2853)Ctg>Gtg	p.L951V	PHF8_ENST00000338946.6_Missense_Mutation_p.L814V|PHF8_ENST00000338154.6_Missense_Mutation_p.L915V	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	951					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GGTACTGTCAGACTGAGATTG	0.532																																						ENST00000338154.6																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(2743-2745)Ctg>Gtg		PHD finger protein 8							121.0	92.0	102.0					X																	53966856		2203	4300	6503	SO:0001583	missense	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:53966856G>C	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.2851C>G	X.37:g.53966856G>C	ENSP00000350676:p.Leu951Val					PHF8_ENST00000338946.6_Missense_Mutation_p.L814V|PHF8_ENST00000357988.5_Missense_Mutation_p.L951V	p.L915V	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN			21	3247	-			951					B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	ENST00000357988.5	37	c.2743C>G	CCDS55420.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.277783	0.00254	.	.	ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277	T;T;T	0.16743	2.59;2.33;2.32	5.28	-2.44	0.06502	.	1.082810	0.07026	N	0.827652	T	0.07143	0.0181	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.42015	-0.9476	10	0.12766	T	0.61	0.7561	6.545	0.22400	0.0:0.3323:0.3156:0.3521	.	814;850;951	B7Z911;Q9UPP1-3;Q9UPP1	.;.;PHF8_HUMAN	V	951;915;814;844	ENSP00000350676:L951V;ENSP00000338868:L915V;ENSP00000340051:L814V	ENSP00000338868:L915V	L	-	1	2	PHF8	53983581	0.000000	0.05858	0.001000	0.08648	0.211000	0.24417	-0.581000	0.05820	-0.797000	0.04450	-0.557000	0.04193	CTG		0.532	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		3	21	0	0	0	1	0	3	21				
COL12A1	1303	broad.mit.edu	37	6	75893744	75893744	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr6:75893744T>C	ENST00000322507.8	-	9	1423	c.1114A>G	c.(1114-1116)Act>Gct	p.T372A	COL12A1_ENST00000483888.2_Missense_Mutation_p.T372A|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.T372A	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	372	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTTCCTGCAGTCATTGGTGTG	0.478																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(1114-1116)Act>Gct		collagen, type XII, alpha 1							91.0	89.0	90.0					6																	75893744		2001	4183	6184	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75893744T>C	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.1114A>G	6.37:g.75893744T>C	ENSP00000325146:p.Thr372Ala					COL12A1_ENST00000483888.2_Missense_Mutation_p.T372A|COL12A1_ENST00000416123.2_Missense_Mutation_p.T372A|COL12A1_ENST00000345356.6_Intron	p.T372A	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			9	1423	-			372			Fibronectin type-III 2.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.1114A>G	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.930742	0.00488	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.57436	0.4;0.4;0.4	5.55	1.7	0.24286	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.431286	0.21785	N	0.069149	T	0.12263	0.0298	L	0.39147	1.195	0.20563	N	0.999881	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.35992	-0.9766	10	0.02654	T	1	.	5.2356	0.15445	0.5535:0.0866:0.0:0.3598	.	372;372	D6RGG3;Q99715	.;COCA1_HUMAN	A	372	ENSP00000325146:T372A;ENSP00000412864:T372A;ENSP00000421216:T372A	ENSP00000325146:T372A	T	-	1	0	COL12A1	75950464	1.000000	0.71417	0.419000	0.26584	0.213000	0.24496	0.424000	0.21330	0.043000	0.15746	-0.333000	0.08304	ACT		0.478	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		11	139	0	0	0	1	0	11	139				
LHFPL1	340596	broad.mit.edu	37	X	111914413	111914413	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chrX:111914413C>T	ENST00000371968.3	-	2	445	c.206G>A	c.(205-207)cGc>cAc	p.R69H	LHFPL1_ENST00000536453.1_Missense_Mutation_p.R69H|LHFPL1_ENST00000478229.1_Intron	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	69						integral component of membrane (GO:0016021)		p.R69H(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						GCTGGCATAGCGCCCACATTC	0.592																																						ENST00000371968.3																			1	Substitution - Missense(1)	p.R69H(1)	kidney(1)	breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						c.(205-207)cGc>cAc		lipoma HMGIC fusion partner-like 1							138.0	122.0	128.0					X																	111914413		2203	4300	6503	SO:0001583	missense	340596					integral to membrane		g.chrX:111914413C>T	AY217350	CCDS14562.1	Xq23	2008-02-05			ENSG00000182508	ENSG00000182508			6587	protein-coding gene	gene with protein product		300566				10329012	Standard	NM_178175		Approved		uc004epq.3	Q86WI0	OTTHUMG00000022214	ENST00000371968.3:c.206G>A	X.37:g.111914413C>T	ENSP00000361036:p.Arg69His					LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Missense_Mutation_p.R69H	p.R69H	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN			2	445	-			69					A8K1N1|Q496M9|Q496N0|Q6UXU2	Missense_Mutation	SNP	ENST00000371968.3	37	c.206G>A	CCDS14562.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398882	0.83120	.	.	ENSG00000182508	ENST00000371968;ENST00000536453	T;T	0.73258	-0.73;-0.73	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.84005	0.5377	M	0.83603	2.65	0.58432	D	0.999999	D;D	0.89917	0.998;1.0	D;D	0.81914	0.991;0.995	T	0.83180	-0.0089	10	0.31617	T	0.26	-29.645	15.1346	0.72552	0.0:1.0:0.0:0.0	.	69;69	Q86WI0-2;Q86WI0	.;LHPL1_HUMAN	H	69	ENSP00000361036:R69H;ENSP00000444573:R69H	ENSP00000361036:R69H	R	-	2	0	LHFPL1	111801069	1.000000	0.71417	0.996000	0.52242	0.928000	0.56348	5.619000	0.67729	2.456000	0.83038	0.600000	0.82982	CGC		0.592	LHFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057947.1	NM_178175		5	93	0	0	0	1	0	5	93				
SLC12A6	9990	broad.mit.edu	37	15	34528987	34528987	+	Silent	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr15:34528987G>A	ENST00000354181.3	-	23	3456	c.2964C>T	c.(2962-2964)taC>taT	p.Y988Y	SLC12A6_ENST00000397707.2_Silent_p.Y973Y|SLC12A6_ENST00000558589.1_Silent_p.Y979Y|SLC12A6_ENST00000558667.1_Silent_p.Y988Y|SLC12A6_ENST00000458406.2_Silent_p.Y929Y|SLC12A6_ENST00000451844.2_Silent_p.Y800Y|SLC12A6_ENST00000397702.2_Silent_p.Y929Y|SLC12A6_ENST00000560611.1_Silent_p.Y988Y|SLC12A6_ENST00000560164.1_Silent_p.Y800Y|SLC12A6_ENST00000290209.5_Silent_p.Y937Y			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	988					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	AAGTGCGCTCGTAAGTATATG	0.433																																						ENST00000354181.3																			0				central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45						c.(2962-2964)taC>taT		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)						181.0	156.0	164.0					15																	34528987		2201	4298	6499	SO:0001819	synonymous_variant	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34528987G>A	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.2964C>T	15.37:g.34528987G>A						SLC12A6_ENST00000451844.2_Silent_p.Y800Y|SLC12A6_ENST00000458406.2_Silent_p.Y929Y|SLC12A6_ENST00000397702.2_Silent_p.Y929Y|SLC12A6_ENST00000290209.5_Silent_p.Y937Y|SLC12A6_ENST00000558589.1_Silent_p.Y979Y|SLC12A6_ENST00000560611.1_Silent_p.Y988Y|SLC12A6_ENST00000397707.2_Silent_p.Y973Y|SLC12A6_ENST00000560164.1_Silent_p.Y800Y|SLC12A6_ENST00000558667.1_Silent_p.Y988Y	p.Y988Y			Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	23	3456	-		all_lung(180;2.78e-08)	988					A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Silent	SNP	ENST00000354181.3	37	c.2964C>T	CCDS58352.1																																																																																				0.433	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		48	63	0	0	0	1	0	48	63				
ADAMTS13	11093	broad.mit.edu	37	9	136320669	136320669	+	Missense_Mutation	SNP	C	C	T	rs200122302		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr9:136320669C>T	ENST00000371929.3	+	25	3956	c.3512C>T	c.(3511-3513)cCg>cTg	p.P1171L	ADAMTS13_ENST00000371910.1_5'Flank|ADAMTS13_ENST00000355699.2_Intron|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000356589.2_Intron|ADAMTS13_ENST00000371916.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1171					cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTCTTCTCCCCGGCTCCCCAG	0.687																																						ENST00000371929.3																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36						c.(3511-3513)cCg>cTg		ADAM metallopeptidase with thrombospondin type 1 motif, 13							29.0	38.0	35.0					9																	136320669		2180	4275	6455	SO:0001583	missense	11093				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr9:136320669C>T	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.3512C>T	9.37:g.136320669C>T	ENSP00000360997:p.Pro1171Leu					ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000356589.2_Intron|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000355699.2_Intron	p.P1171L	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	25	3956	+			1171					Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	ENST00000371929.3	37	c.3512C>T	CCDS6970.1	.	.	.	.	.	.	.	.	.	.	C	9.625	1.134939	0.21123	.	.	ENSG00000160323	ENST00000371929	D	0.82081	-1.57	5.28	4.37	0.52481	.	.	.	.	.	T	0.68531	0.3011	N	0.20685	0.6	0.24684	N	0.993343	B	0.15719	0.014	B	0.08055	0.003	T	0.52411	-0.8579	8	.	.	.	.	7.2145	0.25951	0.0:0.8295:0.0:0.1705	.	1171	Q76LX8	ATS13_HUMAN	L	1171	ENSP00000360997:P1171L	.	P	+	2	0	ADAMTS13	135310490	0.060000	0.20803	0.083000	0.20561	0.043000	0.13939	2.039000	0.41193	2.448000	0.82819	0.561000	0.74099	CCG		0.687	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		17	127	0	0	0	1	0	17	127				
TDP1	55775	broad.mit.edu	37	14	90509460	90509460	+	Silent	SNP	G	G	A	rs75808917	byFrequency	TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr14:90509460G>A	ENST00000335725.4	+	17	2050	c.1800G>A	c.(1798-1800)acG>acA	p.T600T	TDP1_ENST00000393454.2_Silent_p.T600T|TDP1_ENST00000357382.3_Silent_p.T361T|TDP1_ENST00000555880.1_Missense_Mutation_p.R564H|TDP1_ENST00000393452.3_3'UTR	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	600					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		CACCGGATACGCATGGGAACA	0.418								Repair of DNA-protein crosslinks					G|||	9	0.00179712	0.0068	0.0	5008	,	,		19577	0.0		0.0	False		,,,				2504	0.0					ENST00000555880.1																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25						c.(1690-1692)cGc>cAc	Repair of DNA-protein crosslinks	tyrosyl-DNA phosphodiesterase 1		G	,	38,4368	42.3+/-75.8	1,36,2166	114.0	101.0	105.0		1800,1800	-6.6	0.9	14	dbSNP_132	105	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TDP1	NM_001008744.1,NM_018319.3	,	1,36,6466	AA,AG,GG		0.0,0.8625,0.2922	,	600/609,600/609	90509460	38,12968	2203	4300	6503	SO:0001819	synonymous_variant	55775				cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	g.chr14:90509460G>A	AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.1800G>A	14.37:g.90509460G>A						TDP1_ENST00000393454.2_Silent_p.T600T|TDP1_ENST00000335725.4_Silent_p.T600T|TDP1_ENST00000393452.3_3'UTR|TDP1_ENST00000357382.3_Silent_p.T361T	p.R564H			Q9NUW8	TYDP1_HUMAN		COAD - Colon adenocarcinoma(157;0.23)	14	1701	+		all_cancers(154;0.185)	0					Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Missense_Mutation	SNP	ENST00000335725.4	37	c.1691G>A	CCDS9888.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	16.51	3.142164	0.57044	0.008625	0.0	ENSG00000042088	ENST00000555880	T	0.32753	1.44	5.55	-6.59	0.01830	.	.	.	.	.	T	0.08537	0.0212	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27191	-1.0081	7	.	.	.	-31.3845	3.111	0.06359	0.3284:0.4169:0.1507:0.104	.	564	G3V2F4	.	H	564	ENSP00000450628:R564H	.	R	+	2	0	TDP1	89579213	0.154000	0.22792	0.913000	0.36048	0.990000	0.78478	-1.173000	0.03108	-0.523000	0.06409	-0.300000	0.09419	CGC		0.418	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	NM_018319		5	75	0	0	0	1	0	5	75				
PLCXD1	55344	broad.mit.edu	37	X	205505	205505	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chrX:205505G>A	ENST00000381657.2	+	3	747	c.233G>A	c.(232-234)cGc>cAc	p.R78H	PLCXD1_ENST00000399012.1_Missense_Mutation_p.R78H|PLCXD1_ENST00000381663.3_Missense_Mutation_p.R78H|PLCXD1_ENST00000484611.2_3'UTR	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	78	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid metabolic process (GO:0006629)		phosphoric diester hydrolase activity (GO:0008081)			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGCATCACGCGCCCTGTCGTG	0.637													g|||	1	0.000199681	0.0	0.0014	5008	,	,		17972	0.0		0.0	False		,,,				2504	0.0					ENST00000381657.2																			0				endometrium(3)|large_intestine(1)|lung(7)	11						c.(232-234)cGc>cAc		phosphatidylinositol-specific phospholipase C, X domain containing 1							276.0	212.0	233.0					X																	205505		2203	4296	6499	SO:0001583	missense	55344				intracellular signal transduction|lipid metabolic process		phospholipase C activity	g.chrX:205505G>A	AK002185	CCDS14103.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000182378	ENSG00000182378		"""Pseudoautosomal regions / PAR1"""	23148	protein-coding gene	gene with protein product							Standard	NM_018390		Approved	FLJ11323	uc004cpc.3	Q9NUJ7	OTTHUMG00000022693	ENST00000381657.2:c.233G>A	X.37:g.205505G>A	ENSP00000371073:p.Arg78His					PLCXD1_ENST00000484611.2_3'UTR|PLCXD1_ENST00000399012.1_Missense_Mutation_p.R78H|PLCXD1_ENST00000381663.3_Missense_Mutation_p.R78H	p.R78H	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN			3	747	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	78			PI-PLC X-box.		A2BH51|A2BH52	Missense_Mutation	SNP	ENST00000381657.2	37	c.233G>A	CCDS14103.1	.	.	.	.	.	.	.	.	.	.	.	9.687	1.150826	0.21371	.	.	ENSG00000182378	ENST00000399012;ENST00000430923;ENST00000445062;ENST00000381657;ENST00000381663;ENST00000415337;ENST00000447472;ENST00000448477	T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36	1.79	-0.937	0.10415	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (1);	0.330602	0.30285	N	0.009974	T	0.19127	0.0459	.	.	.	0.09310	N	1	P	0.44429	0.835	B	0.36885	0.235	T	0.20107	-1.0285	9	0.48119	T	0.1	-16.2155	2.7547	0.05289	0.1939:0.0:0.543:0.2631	.	78	Q9NUJ7	PLCX1_HUMAN	H	78	ENSP00000381976:R78H;ENSP00000394848:R78H;ENSP00000371073:R78H;ENSP00000371079:R78H;ENSP00000399510:R78H;ENSP00000405307:R78H	ENSP00000371073:R78H	R	+	2	0	PLCXD1	145505	0.073000	0.21202	0.001000	0.08648	0.008000	0.06430	0.407000	0.21049	-1.209000	0.02631	-0.969000	0.02612	CGC		0.637	PLCXD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058879.2	NM_018390		5	97	0	0	0	1	0	5	97				
YEATS2	55689	broad.mit.edu	37	3	183495362	183495362	+	Silent	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:183495362G>A	ENST00000305135.5	+	19	2805	c.2610G>A	c.(2608-2610)caG>caA	p.Q870Q		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	870					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CATCACCCCAGACTTCTGGAA	0.433																																						ENST00000305135.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(2608-2610)caG>caA		YEATS domain containing 2							91.0	86.0	87.0					3																	183495362		1993	4178	6171	SO:0001819	synonymous_variant	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183495362G>A	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.2610G>A	3.37:g.183495362G>A							p.Q870Q	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		19	2805	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		870					A7E2B9|D3DNS9|Q641P6|Q9NW96	Silent	SNP	ENST00000305135.5	37	c.2610G>A	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	G	9.350	1.065312	0.20067	.	.	ENSG00000163872	ENST00000432781	.	.	.	5.68	4.8	0.61643	.	.	.	.	.	T	0.62720	0.2451	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60954	-0.7160	4	.	.	.	-14.0706	10.9687	0.47426	0.1518:0.0:0.8482:0.0	.	.	.	.	N	56	.	.	D	+	1	0	YEATS2	184978056	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.531000	0.45650	1.357000	0.45904	0.655000	0.94253	GAC		0.433	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		8	57	0	0	0	1	0	8	57				
YPEL3	83719	broad.mit.edu	37	16	30106634	30106634	+	Missense_Mutation	SNP	C	C	T	rs374762947		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr16:30106634C>T	ENST00000398838.4	-	2	269	c.56G>A	c.(55-57)cGg>cAg	p.R19Q	YPEL3_ENST00000566595.1_Missense_Mutation_p.R19Q|YPEL3_ENST00000563788.1_Missense_Mutation_p.R19Q|RP11-455F5.3_ENST00000515455.2_RNA|YPEL3_ENST00000398841.1_Missense_Mutation_p.R57Q|YPEL3_ENST00000562641.1_Missense_Mutation_p.R57Q|YPEL3_ENST00000566134.1_Missense_Mutation_p.R19Q|YPEL3_ENST00000565479.1_5'UTR	NM_001145524.1	NP_001138996.1	P61236	YPEL3_HUMAN	yippee-like 3 (Drosophila)	19						nucleus (GO:0005634)				endometrium(1)|lung(2)	3						GCTATACCTCCGGTGACAATC	0.642																																						ENST00000562641.1																			0				endometrium(1)|lung(2)	3						c.(169-171)cGg>cAg		yippee-like 3 (Drosophila)							76.0	86.0	83.0					16																	30106634		2129	4253	6382	SO:0001583	missense	83719					nucleolus		g.chr16:30106634C>T	AF305622	CCDS42147.1, CCDS45459.1	16p11	2008-02-05							18327	protein-coding gene	gene with protein product		609724					Standard	NM_031477		Approved	MGC10500	uc002dwm.3	P61236		ENST00000398838.4:c.56G>A	16.37:g.30106634C>T	ENSP00000381818:p.Arg19Gln					YPEL3_ENST00000565479.1_5'UTR|YPEL3_ENST00000398838.4_Missense_Mutation_p.R19Q|YPEL3_ENST00000398841.1_Missense_Mutation_p.R57Q|YPEL3_ENST00000563788.1_Missense_Mutation_p.R19Q|YPEL3_ENST00000566595.1_Missense_Mutation_p.R19Q|YPEL3_ENST00000566134.1_Missense_Mutation_p.R19Q	p.R57Q			P61236	YPEL3_HUMAN			1	699	-			19					Q65Z99|Q86VK6|Q9BSJ4|Q9CQB6	Missense_Mutation	SNP	ENST00000398838.4	37	c.170G>A	CCDS45459.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.334877	0.81801	.	.	ENSG00000090238	ENST00000398841;ENST00000398838	.	.	.	3.52	3.52	0.40303	.	0.000000	0.64402	D	0.000002	T	0.75989	0.3925	M	0.74467	2.265	0.58432	D	0.999998	D;D	0.76494	0.993;0.999	P;D	0.65874	0.841;0.939	T	0.79678	-0.1703	9	0.59425	D	0.04	-3.6633	13.9974	0.64411	0.0:1.0:0.0:0.0	.	19;57	P61236;P61236-2	YPEL3_HUMAN;.	Q	57;19	.	ENSP00000381818:R19Q	R	-	2	0	YPEL3	30014135	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.651000	0.67951	1.811000	0.52892	0.561000	0.74099	CGG		0.642	YPEL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434043.1	NM_031477		72	96	0	0	0	1	0	72	96				
TECRL	253017	broad.mit.edu	37	4	65274899	65274899	+	Silent	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr4:65274899C>T	ENST00000381210.3	-	1	281	c.171G>A	c.(169-171)acG>acA	p.T57T	TECRL_ENST00000507440.1_Silent_p.T57T	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	57					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CAAAGTGAGTCGTTTTTGAAT	0.328																																						ENST00000381210.3																			0				endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						c.(169-171)acG>acA		trans-2,3-enoyl-CoA reductase-like							68.0	66.0	66.0					4																	65274899		2203	4300	6503	SO:0001819	synonymous_variant	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65274899C>T	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.171G>A	4.37:g.65274899C>T						TECRL_ENST00000507440.1_Silent_p.T57T	p.T57T	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN			1	281	-			57						Silent	SNP	ENST00000381210.3	37	c.171G>A	CCDS33990.1																																																																																				0.328	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		20	19	0	0	0	1	0	20	19				
MAN1B1	11253	broad.mit.edu	37	9	140003035	140003035	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr9:140003035C>T	ENST00000371589.4	+	13	2165	c.2092C>T	c.(2092-2094)Cct>Tct	p.P698S	MAN1B1_ENST00000540391.1_3'UTR|MAN1B1_ENST00000474902.1_Missense_Mutation_p.P401S	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	698					cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		TATCTGGACCCCTGCCTAGGG	0.597																																						ENST00000371589.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14						c.(2092-2094)Cct>Tct		mannosidase, alpha, class 1B, member 1							117.0	115.0	116.0					9																	140003035		2203	4300	6503	SO:0001583	missense	11253				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr9:140003035C>T	AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"""endoplasmic reticulum alpha-mannosidase 1"", ""alpha 1,2-mannosidase"", ""endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1"", ""ER alpha 1,2-mannosidase"", ""Man9GlcNAc2-specific processing alpha-mannosidase"""	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.2092C>T	9.37:g.140003035C>T	ENSP00000360645:p.Pro698Ser					MAN1B1_ENST00000474902.1_Missense_Mutation_p.P401S|MAN1B1_ENST00000540391.1_3'UTR	p.P698S	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)	13	2165	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	698					Q5VSG3|Q9BRS9|Q9Y5K7	Missense_Mutation	SNP	ENST00000371589.4	37	c.2092C>T	CCDS7029.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.68|14.68	2.606523|2.606523	0.46527|0.46527	.|.	.|.	ENSG00000177239|ENSG00000177239	ENST00000550113|ENST00000371589;ENST00000474902	.|T;D	.|0.85339	.|-1.23;-1.97	5.44|5.44	1.42|1.42	0.22433|0.22433	.|.	.|.	.|.	.|.	.|.	T|T	0.69531|0.69531	0.3121|0.3121	N|N	0.21097|0.21097	0.63|0.63	0.09310|0.09310	N|N	1|1	.|B;B	.|0.32245	.|0.361;0.038	.|B;B	.|0.22880	.|0.042;0.013	T|T	0.53549|0.53549	-0.8423|-0.8423	5|8	.|.	.|.	.|.	.|.	6.2303|6.2303	0.20732|0.20732	0.0:0.553:0.2895:0.1575|0.0:0.553:0.2895:0.1575	.|.	.|371;698	.|B3KXZ1;Q9UKM7	.|.;MA1B1_HUMAN	L|S	122|698;401	.|ENSP00000360645:P698S;ENSP00000447256:P401S	.|.	P|P	+|+	2|1	0|0	MAN1B1|MAN1B1	139122856|139122856	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.454000|0.454000	0.32378|0.32378	-0.184000|-0.184000	0.09698|0.09698	0.004000|0.004000	0.14682|0.14682	-0.305000|-0.305000	0.09177|0.09177	CCC|CCT		0.597	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055294.2	NM_016219		6	207	0	0	0	1	0	6	207				
PAPPA2	60676	broad.mit.edu	37	1	176525560	176525560	+	Silent	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr1:176525560G>A	ENST00000367662.3	+	2	1266	c.102G>A	c.(100-102)ttG>ttA	p.L34L	PAPPA2_ENST00000367661.3_Silent_p.L34L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	34					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGAAATCCTTGGTTGAGAGGG	0.527																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(100-102)ttG>ttA		pappalysin 2							93.0	93.0	93.0					1																	176525560		2010	4196	6206	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176525560G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.102G>A	1.37:g.176525560G>A						PAPPA2_ENST00000367661.3_Silent_p.L34L	p.L34L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			2	1266	+			34					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.102G>A	CCDS41438.1																																																																																				0.527	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			41	111	0	0	0	1	0	41	111				
CNTN3	5067	broad.mit.edu	37	3	74347288	74347288	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:74347288G>A	ENST00000263665.6	-	17	2248	c.2221C>T	c.(2221-2223)Cgc>Tgc	p.R741C		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	741	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CCAAGAGGGCGGAAAGCAACA	0.463																																						ENST00000263665.6																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(2221-2223)Cgc>Tgc		contactin 3 (plasmacytoma associated)							163.0	158.0	159.0					3																	74347288		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74347288G>A	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2221C>T	3.37:g.74347288G>A	ENSP00000263665:p.Arg741Cys						p.R741C	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	17	2248	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	741			Fibronectin type-III 2.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.2221C>T	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892614	0.72524	.	.	ENSG00000113805	ENST00000263665	T	0.59364	0.27	5.79	4.84	0.62591	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80276	0.4593	M	0.89163	3.01	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84082	0.0385	10	0.87932	D	0	.	17.5816	0.87970	0.0:0.0:0.8682:0.1318	.	741	Q9P232	CNTN3_HUMAN	C	741	ENSP00000263665:R741C	ENSP00000263665:R741C	R	-	1	0	CNTN3	74429978	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.226000	0.51254	2.733000	0.93635	0.655000	0.94253	CGC		0.463	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		14	86	0	0	0	1	0	14	86				
CALCOCO2	10241	broad.mit.edu	37	17	46925765	46925765	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr17:46925765C>G	ENST00000258947.3	+	4	466	c.365C>G	c.(364-366)cCt>cGt	p.P122R	CALCOCO2_ENST00000509507.1_Missense_Mutation_p.P143R|CALCOCO2_ENST00000448105.2_Missense_Mutation_p.P146R|CALCOCO2_ENST00000416445.2_Missense_Mutation_p.P122R|CALCOCO2_ENST00000508679.1_Missense_Mutation_p.P50R	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	122					response to interferon-gamma (GO:0034341)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						GCAAGTATTCCTTTCCAATTC	0.448																																						ENST00000258947.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						c.(364-366)cCt>cGt		calcium binding and coiled-coil domain 2							184.0	157.0	166.0					17																	46925765		2203	4300	6503	SO:0001583	missense	10241				response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity	g.chr17:46925765C>G	BC004130	CCDS11538.1, CCDS58558.1, CCDS58559.1, CCDS58560.1, CCDS58561.1	17q21.32	2006-02-09				ENSG00000136436			29912	protein-coding gene	gene with protein product		604587				7540613	Standard	NM_001261390		Approved	MGC17318, NDP52	uc010wlr.3	Q13137		ENST00000258947.3:c.365C>G	17.37:g.46925765C>G	ENSP00000258947:p.Pro122Arg					CALCOCO2_ENST00000416445.2_Missense_Mutation_p.P122R|CALCOCO2_ENST00000448105.2_Missense_Mutation_p.P146R|CALCOCO2_ENST00000509507.1_Missense_Mutation_p.P143R|CALCOCO2_ENST00000508679.1_Missense_Mutation_p.P50R	p.P122R	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN			4	466	+			122					B2RBT0|B4DDC4|B4DDT4|B4DP36|B4E0C0|E7ENK0|E7ETP5|E9PBE5|Q53FQ5|Q53HB5|Q6IBN9|Q9BTF7	Missense_Mutation	SNP	ENST00000258947.3	37	c.365C>G	CCDS11538.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.634301	0.67130	.	.	ENSG00000136436	ENST00000258947;ENST00000509507;ENST00000448105;ENST00000509415;ENST00000513119;ENST00000416445;ENST00000508679;ENST00000505071;ENST00000502761	T;T;T;T;T;T;T;T;T	0.58940	2.95;2.95;2.95;0.3;0.54;2.95;0.63;2.95;2.95	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000006	T	0.80654	0.4664	M	0.87758	2.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.83497	0.0073	10	0.87932	D	0	-7.4156	19.2551	0.93943	0.0:1.0:0.0:0.0	.	122;146;143;122	E7ETP5;B4DP36;E9PBE5;Q13137	.;.;.;CACO2_HUMAN	R	122;143;146;94;50;122;50;122;122	ENSP00000258947:P122R;ENSP00000424352:P143R;ENSP00000398523:P146R;ENSP00000425692:P94R;ENSP00000425090:P50R;ENSP00000406974:P122R;ENSP00000423437:P50R;ENSP00000422697:P122R;ENSP00000424889:P122R	ENSP00000258947:P122R	P	+	2	0	CALCOCO2	44280764	1.000000	0.71417	1.000000	0.80357	0.287000	0.27160	6.134000	0.71689	2.661000	0.90470	0.591000	0.81541	CCT		0.448	CALCOCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360866.1	NM_005831		7	133	0	0	0	1	0	7	133				
KCTD7	154881	broad.mit.edu	37	7	66104145	66104145	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr7:66104145G>A	ENST00000275532.3	+	4	980	c.796G>A	c.(796-798)Gtg>Atg	p.V266M	KCTD7_ENST00000443322.1_Missense_Mutation_p.V266M	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	266					cell death (GO:0008219)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GTGCATCGGGGTGTGTGACAA	0.597																																						ENST00000275532.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						c.(796-798)Gtg>Atg		potassium channel tetramerization domain containing 7							106.0	80.0	89.0					7																	66104145		2203	4300	6503	SO:0001583	missense	154881					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr7:66104145G>A	AK056631	CCDS5534.1, CCDS55117.1	7q11.21	2014-09-17	2013-06-20		ENSG00000243335	ENSG00000243335			21957	protein-coding gene	gene with protein product		611725	"""potassium channel tetramerisation domain containing 7"""			12477932	Standard	NM_001167961		Approved	FLJ32069, EPM3, CLN14	uc003tve.3	Q96MP8	OTTHUMG00000129543	ENST00000275532.3:c.796G>A	7.37:g.66104145G>A	ENSP00000275532:p.Val266Met					KCTD7_ENST00000443322.1_Missense_Mutation_p.V266M	p.V266M	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN			4	980	+			266					A4D2M4|Q8IVR0	Missense_Mutation	SNP	ENST00000275532.3	37	c.796G>A	CCDS5534.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530471	0.85706	.	.	ENSG00000243335	ENST00000275532;ENST00000443322	T;T	0.66815	-0.22;-0.23	5.33	5.33	0.75918	.	.	.	.	.	T	0.78155	0.4239	L	0.50333	1.59	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.77284	-0.2645	9	0.44086	T	0.13	.	18.012	0.89226	0.0:0.0:1.0:0.0	.	266	Q96MP8	KCTD7_HUMAN	M	266	ENSP00000275532:V266M;ENSP00000411624:V266M	ENSP00000275532:V266M	V	+	1	0	KCTD7	65741580	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.152000	0.94680	2.485000	0.83878	0.655000	0.94253	GTG		0.597	KCTD7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251733.2	NM_153033		4	56	0	0	0	1	0	4	56				
E4F1	1877	broad.mit.edu	37	16	2278405	2278405	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr16:2278405C>G	ENST00000301727.4	+	2	238	c.190C>G	c.(190-192)Cag>Gag	p.Q64E	E4F1_ENST00000565090.1_Missense_Mutation_p.Q64E|E4F1_ENST00000564139.1_Missense_Mutation_p.Q64E	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	64	Required for ubiquitin ligase activity.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						CGGCCGCTGCCAGGCAGAGTT	0.662																																						ENST00000301727.4																			0				ovary(1)	1						c.(190-192)Cag>Gag		E4F transcription factor 1							38.0	41.0	40.0					16																	2278405		2196	4300	6496	SO:0001583	missense	1877				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr16:2278405C>G	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"""Zinc fingers, C2H2-type"""	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.190C>G	16.37:g.2278405C>G	ENSP00000301727:p.Gln64Glu					E4F1_ENST00000564139.1_Missense_Mutation_p.Q64E|E4F1_ENST00000565090.1_Missense_Mutation_p.Q64E	p.Q64E	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN			2	238	+			64			Required for ubiquitin ligase activity.		A8K2R4|O00146	Missense_Mutation	SNP	ENST00000301727.4	37	c.190C>G	CCDS32370.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349481	0.61183	.	.	ENSG00000167967	ENST00000301727	T	0.31769	1.48	4.78	4.78	0.61160	Zinc finger, C2H2-like (1);	0.134138	0.51477	D	0.000085	T	0.36026	0.0952	L	0.29908	0.895	0.51482	D	0.999924	P;P;P	0.49862	0.929;0.698;0.505	P;P;B	0.51974	0.686;0.477;0.301	T	0.22695	-1.0209	10	0.72032	D	0.01	-18.2502	16.3989	0.83632	0.0:1.0:0.0:0.0	.	60;64;64	E9PFZ8;E7EMF7;Q66K89	.;.;E4F1_HUMAN	E	64	ENSP00000301727:Q64E	ENSP00000301727:Q64E	Q	+	1	0	E4F1	2218406	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.969000	0.49232	2.203000	0.70933	0.462000	0.41574	CAG		0.662	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424		27	30	0	0	0	1	0	27	30				
BMS1	9790	broad.mit.edu	37	10	43318571	43318571	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr10:43318571G>A	ENST00000374518.5	+	20	3201	c.3138G>A	c.(3136-3138)atG>atA	p.M1046I		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1046					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.M1046I(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGTAGGGAATGTTTAATTCTG	0.393																																						ENST00000374518.4																			1	Substitution - Missense(1)	p.M1046I(1)	endometrium(1)	NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3136-3138)atG>atA		BMS1 ribosome biogenesis factor							74.0	83.0	80.0					10																	43318571		2202	4297	6499	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43318571G>A	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.3138G>A	10.37:g.43318571G>A	ENSP00000363642:p.Met1046Ile						p.M1046I	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			20	3201	+			1046					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.3138G>A	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485181	0.63962	.	.	ENSG00000165733	ENST00000374518	T	0.26957	1.7	4.54	4.54	0.55810	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.39600	0.1084	M	0.86953	2.85	0.80722	D	1	B	0.14438	0.01	B	0.17433	0.018	T	0.48636	-0.9018	10	0.72032	D	0.01	.	17.7203	0.88349	0.0:0.0:1.0:0.0	.	1046	Q14692	BMS1_HUMAN	I	1046	ENSP00000363642:M1046I	ENSP00000363642:M1046I	M	+	3	0	BMS1	42638577	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.443000	0.97568	2.250000	0.74265	0.454000	0.30748	ATG		0.393	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		4	198	0	0	0	1	0	4	198				
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		AAAATTCCACAAGTCTCTTGG	0.373																																						ENST00000430983.1																			0																																																			0							g.chr17:62968690A>G	AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62968690A>G								NR_026903.1						0	1554	-									RNA	SNP	ENST00000430983.1	37																																																																																						0.373	AMZ2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255102.1	NM_153032		9	151	0	0	0	1	0	9	151				
PLCXD2	257068	broad.mit.edu	37	3	111427010	111427010	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:111427010delT	ENST00000477665.1	+	2	725	c.401delT	c.(400-402)cttfs	p.L134fs	PLCXD2_ENST00000393934.3_Frame_Shift_Del_p.L134fs	NM_001185106.1	NP_001172035.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	134	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						ATCCATGGGCTTTTTGGCATC	0.502																																						ENST00000393934.3																			0				endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						c.(400-402)ctfs		phosphatidylinositol-specific phospholipase C, X domain containing 2							128.0	125.0	126.0					3																	111427010		2203	4300	6503	SO:0001589	frameshift_variant	257068				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr3:111427010delT	AK056141	CCDS2961.1, CCDS54619.1	3q13.2	2004-09-09			ENSG00000240891	ENSG00000240891			26462	protein-coding gene	gene with protein product							Standard	NM_001185106		Approved	FLJ31579	uc003dxz.3	Q0VAA5	OTTHUMG00000159279	ENST00000477665.1:c.401delT	3.37:g.111427010delT	ENSP00000420686:p.Leu134fs					PLCXD2_ENST00000477665.1_Frame_Shift_Del_p.L134fs	p.L134fs	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN			2	971	+			134			PI-PLC X-box.		Q96N12	Frame_Shift_Del	DEL	ENST00000477665.1	37	c.401delT	CCDS54619.1																																																																																				0.502	PLCXD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354322.1	NM_153268		7	219						7	219	---	---	---	---
PRR23A	729627	broad.mit.edu	37	3	138724681	138724681	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:138724681delC	ENST00000383163.2	-	1	429	c.430delG	c.(430-432)gcafs	p.A144fs	MRPS22_ENST00000495075.1_5'UTR	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	144										endometrium(3)|kidney(1)|lung(7)	11						GGGACAGATGCGCAGAAGACT	0.652																																						ENST00000383163.2																			0				endometrium(3)|kidney(1)|lung(7)	11						c.(430-432)cafs		proline rich 23A							47.0	46.0	46.0					3																	138724681		692	1591	2283	SO:0001589	frameshift_variant	729627							g.chr3:138724681delC		CCDS46923.1	3q22.3	2014-06-03				ENSG00000206260			37172	protein-coding gene	gene with protein product							Standard	NM_001134659		Approved		uc011bms.2	A6NEV1		ENST00000383163.2:c.430delG	3.37:g.138724681delC	ENSP00000372649:p.Ala144fs					MRPS22_ENST00000495075.1_5'UTR	p.A144fs	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN			1	429	-			144						Frame_Shift_Del	DEL	ENST00000383163.2	37	c.430delG	CCDS46923.1																																																																																				0.652	PRR23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361503.1	NM_001134659		24	31						24	31	---	---	---	---
SOX4	6659	broad.mit.edu	37	6	21594934	21594934	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr6:21594934delG	ENST00000244745.1	+	1	963	c.169delG	c.(169-171)gggfs	p.G57fs	SOX4_ENST00000543472.1_Frame_Shift_Del_p.G57fs	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	57					ascending aorta morphogenesis (GO:0035910)|atrial septum primum morphogenesis (GO:0003289)|canonical Wnt signaling pathway (GO:0060070)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle formation (GO:0003211)|cellular response to glucose stimulus (GO:0071333)|DNA damage response, detection of DNA damage (GO:0042769)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endocrine pancreas development (GO:0031018)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|kidney morphogenesis (GO:0060993)|limb bud formation (GO:0060174)|mitral valve morphogenesis (GO:0003183)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|noradrenergic neuron differentiation (GO:0003357)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin secretion (GO:0032024)|positive regulation of N-terminal peptidyl-lysine acetylation (GO:2000761)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of Wnt signaling pathway (GO:0030177)|pro-B cell differentiation (GO:0002328)|protein stabilization (GO:0050821)|regulation of protein stability (GO:0031647)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spinal cord development (GO:0021510)|spinal cord motor neuron differentiation (GO:0021522)|sympathetic nervous system development (GO:0048485)|T cell differentiation (GO:0030217)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|nucleic acid binding transcription factor activity (GO:0001071)|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 transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			GACCCCGAGTGGGCACATCAA	0.677																																						ENST00000244745.1																			0				kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6						c.(169-171)ggfs		SRY (sex determining region Y)-box 4							24.0	23.0	23.0					6																	21594934		2201	4298	6499	SO:0001589	frameshift_variant	6659				canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity	g.chr6:21594934delG	AF070669	CCDS4547.1	6p22.3	2008-02-05			ENSG00000124766	ENSG00000124766		"""SRY (sex determining region Y)-boxes"""	11200	protein-coding gene	gene with protein product		184430				8268656, 9730625	Standard	NM_003107		Approved		uc003ndi.3	Q06945	OTTHUMG00000016101	ENST00000244745.1:c.169delG	6.37:g.21594934delG	ENSP00000244745:p.Gly57fs					SOX4_ENST00000543472.1_Frame_Shift_Del_p.G57fs	p.G57fs	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	all cancers(50;0.0751)|Epithelial(50;0.155)		1	963	+	Ovarian(93;0.163)		57						Frame_Shift_Del	DEL	ENST00000244745.1	37	c.169delG	CCDS4547.1																																																																																				0.677	SOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043301.1	NM_003107		13	12						13	12	---	---	---	---
RUFY2	55680	broad.mit.edu	37	10	70156583	70156583	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr10:70156583delT	ENST00000602465.1	-	4	452	c.352delA	c.(352-354)atgfs	p.M118fs	RUFY2_ENST00000454950.2_Frame_Shift_Del_p.M60fs|RUFY2_ENST00000342616.4_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000388768.2_Frame_Shift_Del_p.M153fs			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	167	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TAATCGGCCATTTTTTTTTGC	0.398																																						ENST00000388768.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						c.(457-459)tgfs		RUN and FYVE domain containing 2							81.0	80.0	81.0					10																	70156583		1832	4087	5919	SO:0001589	frameshift_variant	55680					nucleus	metal ion binding	g.chr10:70156583delT	AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.352delA	10.37:g.70156583delT	ENSP00000473462:p.Met118fs					RUFY2_ENST00000602465.1_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000454950.2_Frame_Shift_Del_p.M60fs|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000342616.4_Frame_Shift_Del_p.M118fs	p.M153fs	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN			4	783	-			167			RUN.		B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Frame_Shift_Del	DEL	ENST00000602465.1	37	c.457delA																																																																																					0.398	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467567.1	NM_017987		8	86						8	86	---	---	---	---
GBF1	8729	broad.mit.edu	37	10	104122359	104122361	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr10:104122359_104122361delAGA	ENST00000369983.3	+	15	2071_2073	c.1811_1813delAGA	c.(1810-1815)gagaag>gag	p.K606del		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	606					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ACCCAGCAAGAGAAGAAGGAGAC	0.483																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(1810-1815)gag>g		golgi brefeldin A resistant guanine nucleotide exchange factor 1																																				SO:0001651	inframe_deletion	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104122359_104122361delAGA	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.1811_1813delAGA	10.37:g.104122362_104122364delAGA	ENSP00000359000:p.Lys606del						p.EK604del	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	15	2071_2073	+		Colorectal(252;0.0236)	604					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	In_Frame_Del	DEL	ENST00000369983.3	37	c.1811_1813delAGA	CCDS7533.1																																																																																				0.483	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			9	125						9	125	---	---	---	---
DNM1L	10059	broad.mit.edu	37	12	32861134	32861135	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr12:32861134_32861135delAG	ENST00000549701.1	+	4	419_420	c.345_346delAG	c.(343-348)acagaafs	p.E116fs	DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000452533.2_Frame_Shift_Del_p.E116fs|DNM1L_ENST00000266481.6_Frame_Shift_Del_p.E116fs|Y_RNA_ENST00000364693.1_RNA|DNM1L_ENST00000381000.4_Frame_Shift_Del_p.E129fs|DNM1L_ENST00000547312.1_Frame_Shift_Del_p.E116fs|DNM1L_ENST00000548671.1_3'UTR|DNM1L_ENST00000358214.5_Frame_Shift_Del_p.E129fs|DNM1L_ENST00000553257.1_Frame_Shift_Del_p.E129fs			O00429	DNM1L_HUMAN	dynamin 1-like	116	Dynamin-type G.|GTPase domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AAAATGAAACAGAAAGAATTTC	0.262																																						ENST00000452533.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23						c.(343-348)acaafs		dynamin 1-like																																				SO:0001589	frameshift_variant	10059				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr12:32861134_32861135delAG	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.345_346delAG	12.37:g.32861134_32861135delAG	ENSP00000450399:p.Glu116fs					DNM1L_ENST00000548671.1_3'UTR|DNM1L_ENST00000549701.1_Frame_Shift_Del_p.TE115fs|DNM1L_ENST00000553257.1_Frame_Shift_Del_p.TE128fs|DNM1L_ENST00000547312.1_Frame_Shift_Del_p.TE115fs|DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000381000.4_Frame_Shift_Del_p.TE128fs|DNM1L_ENST00000266481.6_Frame_Shift_Del_p.TE115fs|DNM1L_ENST00000358214.5_Frame_Shift_Del_p.TE128fs	p.TE115fs	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN			4	509_510	+	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		115			GTPase domain.		A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Frame_Shift_Del	DEL	ENST00000549701.1	37	c.345_346delAG	CCDS8729.1																																																																																				0.262	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062		21	22						21	22	---	---	---	---
RPL12P5	319142	broad.mit.edu	37	14	31260614	31260614	+	RNA	DEL	G	G	-			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr14:31260614delG	ENST00000554665.1	-	0	208																											CCCAGTCTGTGGGCTGCAATG	0.443																																						ENST00000554665.1																			0																																																			0							g.chr14:31260614delG																													14.37:g.31260614delG														0	208	-									RNA	DEL	ENST00000554665.1	37																																																																																						0.443	RP11-159L20.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000409699.1			2	4						2	4	---	---	---	---
KTN1-AS1	100129075	broad.mit.edu	37	14	56014174	56014174	+	RNA	DEL	G	G	-	rs375963888|rs372958232		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr14:56014174delG	ENST00000554558.1	-	0	364							Q86SY8	KTAS1_HUMAN	KTN1 antisense RNA 1																		aaaaaaaaaagaaTTGGCACA	0.443																																						ENST00000554558.1																			0																																																			0							g.chr14:56014174delG			14q22.3	2012-10-12	2012-08-15	2011-12-07	ENSG00000186615	ENSG00000186615		"""Long non-coding RNAs"""	19842	non-coding RNA	RNA, long non-coding			"""chromosome 14 open reading frame 33"", ""KTN1 antisense RNA 1 (non-protein coding)"""	C14orf33			Standard	NR_027123		Approved		uc001xbz.2	Q86SY8	OTTHUMG00000171057		14.37:g.56014174delG														0	364	-									RNA	DEL	ENST00000554558.1	37																																																																																						0.443	KTN1-AS1-004	KNOWN	basic	antisense	antisense	OTTHUMT00000411452.1	NR_027123		4	9						4	9	---	---	---	---
COL18A1	80781	broad.mit.edu	37	21	46925298	46925306	+	In_Frame_Del	DEL	CCCCCTGGG	CCCCCTGGG	-	rs571597296|rs552556415	byFrequency	TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr21:46925298_46925306delCCCCCTGGG	ENST00000359759.4	+	35	4306_4314	c.4285_4293delCCCCCTGGG	c.(4285-4293)ccccctgggdel	p.PPG1435del	SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000355480.5_In_Frame_Del_p.PPG1200del|COL18A1_ENST00000400337.2_In_Frame_Del_p.PPG1020del			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1435	Triple-helical region 10 (COL10).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CCCTCCGGGCccccctgggccccctgggc	0.713														5	0.000998403	0.0	0.0	5008	,	,		11794	0.002		0.003	False		,,,				2504	0.0					ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(4285-4293)del		collagen, type XVIII, alpha 1			,	4,1,3355		0,0,4,0,1,1675					,	0.6	0.5			19	12,10,7576		0,0,12,1,8,3778	no	codingComplex,codingComplex	COL18A1	NM_130445.2,NM_030582.3	,	0,0,16,1,9,5453	A1A1,A1A2,A1R,A2A2,A2R,RR		0.2895,0.1488,0.2464	,	,		16,11,10931				SO:0001651	inframe_deletion	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46925298_46925306delCCCCCTGGG		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.4285_4293delCCCCCTGGG	21.37:g.46925307_46925315delCCCCCTGGG	ENSP00000352798:p.Pro1435_Gly1437del					COL18A1_ENST00000355480.5_In_Frame_Del_p.PPG1200del|SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_In_Frame_Del_p.PPG1020del	p.PPG1435del			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	35	4306_4314	+			1435			Triple-helical region 10 (COL10).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	In_Frame_Del	DEL	ENST00000359759.4	37	c.4285_4293delCCCCCTGGG																																																																																					0.713	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			12	45						12	45	---	---	---	---
