#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
GPD2	2820	broad.mit.edu	37	2	157406233	157406233	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:157406233C>A	ENST00000310454.6	+	7	1147	c.775C>A	c.(775-777)Cag>Aag	p.Q259K	GPD2_ENST00000540309.1_Missense_Mutation_p.Q259K|GPD2_ENST00000409674.1_Missense_Mutation_p.Q259K|GPD2_ENST00000438166.2_Missense_Mutation_p.Q259K|GPD2_ENST00000409125.4_Missense_Mutation_p.Q32K	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	259					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						GACAGACCCCCAGACAGGGAA	0.547																																						ENST00000310454.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						c.(775-777)Cag>Aag		glycerol-3-phosphate dehydrogenase 2 (mitochondrial)							72.0	68.0	69.0					2																	157406233		2203	4300	6503	SO:0001583	missense	2820				cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity	g.chr2:157406233C>A		CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"""EF-hand domain containing"""	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.775C>A	2.37:g.157406233C>A	ENSP00000308610:p.Gln259Lys					GPD2_ENST00000438166.2_Missense_Mutation_p.Q259K|GPD2_ENST00000540309.1_Missense_Mutation_p.Q259K|GPD2_ENST00000409125.4_Missense_Mutation_p.Q32K|GPD2_ENST00000409674.1_Missense_Mutation_p.Q259K	p.Q259K	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN			7	1147	+			259					A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Missense_Mutation	SNP	ENST00000310454.6	37	c.775C>A	CCDS2202.1	.	.	.	.	.	.	.	.	.	.	C	4.858	0.159543	0.09287	.	.	ENSG00000115159	ENST00000310454;ENST00000409125;ENST00000438166;ENST00000540309;ENST00000409674	T;T;T;T;T	0.55930	0.49;0.75;0.49;1.03;0.49	5.91	-2.61	0.06171	FAD dependent oxidoreductase (1);	0.757271	0.13588	N	0.376834	T	0.23688	0.0573	N	0.02345	-0.59	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21042	-1.0257	10	0.11182	T	0.66	.	15.7382	0.77863	0.24:0.1547:0.6053:0.0	.	259	P43304	GPDM_HUMAN	K	259;32;259;259;259	ENSP00000308610:Q259K;ENSP00000386484:Q32K;ENSP00000409708:Q259K;ENSP00000440892:Q259K;ENSP00000386425:Q259K	ENSP00000308610:Q259K	Q	+	1	0	GPD2	157114479	0.000000	0.05858	0.002000	0.10522	0.988000	0.76386	-0.709000	0.05030	-0.448000	0.07128	0.650000	0.86243	CAG		0.547	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3			4	51	1	0	0.000602214	1	0.000633556	4	51				
SEPN1	57190	broad.mit.edu	37	1	26135118	26135118	+	Silent	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:26135118C>T	ENST00000374315.1	+	4	521	c.483C>T	c.(481-483)gcC>gcT	p.A161A	SEPN1_ENST00000361547.2_Silent_p.A195A|SEPN1_ENST00000354177.4_Silent_p.A161A	NM_206926.1	NP_996809.1	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	195						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCCGCCGCCTCACCAAGTG	0.662																																						ENST00000361547.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(583-585)gcC>gcT		selenoprotein N, 1							58.0	69.0	66.0					1																	26135118		2060	4196	6256	SO:0001819	synonymous_variant	57190					endoplasmic reticulum membrane|extracellular region	protein binding	g.chr1:26135118C>T	AF166125	CCDS41282.1, CCDS41283.1	1p36.13	2014-09-17	2004-02-13		ENSG00000162430	ENSG00000162430		"""EF-hand domain containing"""	15999	protein-coding gene	gene with protein product		606210	"""rigid spine muscular dystrophy 1"""	RSMD1, MDRS1		10608886	Standard	NM_020451		Approved	selN, RSS	uc021ojl.1	Q9NZV5	OTTHUMG00000007375	ENST00000374315.1:c.483C>T	1.37:g.26135118C>T						SEPN1_ENST00000354177.4_Silent_p.A161A|SEPN1_ENST00000374315.1_Silent_p.A161A	p.A195A	NM_020451.2	NP_065184.2	Q9NZV5	SELN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)	5	640	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	195					A6NJG8|A8MQ64|Q6PI70|Q969F6|Q9NUI6	Silent	SNP	ENST00000374315.1	37	c.585C>T	CCDS41283.1																																																																																				0.662	SEPN1-002	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000019315.2	NM_020451		24	78	0	0	0	1	0	24	78				
CDH5	1003	broad.mit.edu	37	16	66426264	66426264	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr16:66426264G>A	ENST00000341529.3	+	7	1343	c.1195G>A	c.(1195-1197)Gat>Aat	p.D399N	CDH5_ENST00000563425.2_Missense_Mutation_p.D399N	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	399	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	CATGGACCCTGATGCGGCTAG	0.557																																						ENST00000341529.3																			0				central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(1195-1197)Gat>Aat		cadherin 5, type 2 (vascular endothelium)							90.0	90.0	90.0					16																	66426264		2201	4300	6501	SO:0001583	missense	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66426264G>A	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1195G>A	16.37:g.66426264G>A	ENSP00000344115:p.Asp399Asn					CDH5_ENST00000563425.2_Missense_Mutation_p.D399N	p.D399N	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	7	1343	+		Ovarian(137;0.0955)	399			Cadherin 4.		Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.1195G>A	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	G	31	5.077770	0.94000	.	.	ENSG00000179776	ENST00000341529;ENST00000539262	T	0.74002	-0.8	5.73	5.73	0.89815	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.92227	0.7535	H	0.98295	4.195	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94793	0.7964	9	0.87932	D	0	.	18.8906	0.92399	0.0:0.0:1.0:0.0	.	399	P33151	CADH5_HUMAN	N	399;140	ENSP00000344115:D399N	ENSP00000344115:D399N	D	+	1	0	CDH5	64983765	1.000000	0.71417	0.085000	0.20634	0.002000	0.02628	8.732000	0.91534	2.722000	0.93159	0.655000	0.94253	GAT		0.557	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		26	74	0	0	0	1	0	26	74				
CHPF2	54480	broad.mit.edu	37	7	150931199	150931199	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr7:150931199C>G	ENST00000035307.2	+	1	1615	c.102C>G	c.(100-102)atC>atG	p.I34M	CHPF2_ENST00000495645.1_Missense_Mutation_p.I26M	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	34					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TTTCCTGGATCCAGGGGGAGG	0.612																																						ENST00000035307.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						c.(100-102)atC>atG		chondroitin polymerizing factor 2							65.0	69.0	68.0					7																	150931199		2203	4300	6503	SO:0001583	missense	54480					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr7:150931199C>G	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.102C>G	7.37:g.150931199C>G	ENSP00000035307:p.Ile34Met					CHPF2_ENST00000495645.1_Missense_Mutation_p.I26M	p.I34M	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN			1	1615	+			34					B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	ENST00000035307.2	37	c.102C>G	CCDS34779.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495627	0.64186	.	.	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	T;T	0.27402	1.67;1.68	5.07	4.19	0.49359	.	0.168417	0.52532	D	0.000066	T	0.20414	0.0491	L	0.38175	1.15	0.32862	D	0.508113	P;B	0.52316	0.952;0.189	B;B	0.36534	0.227;0.093	T	0.30001	-0.9993	10	0.39692	T	0.17	-13.2427	10.5147	0.44883	0.0:0.9094:0.0:0.0906	.	34;26	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	M	26;34;34	ENSP00000418914:I26M;ENSP00000035307:I34M	ENSP00000035307:I34M	I	+	3	3	CHPF2	150562132	0.999000	0.42202	1.000000	0.80357	0.926000	0.56050	0.810000	0.27183	1.137000	0.42214	0.462000	0.41574	ATC		0.612	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	NM_019015		4	72	0	0	0	1	0	4	72				
AQR	9716	broad.mit.edu	37	15	35166957	35166957	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr15:35166957C>G	ENST00000156471.5	-	29	3571	c.3346G>C	c.(3346-3348)Gag>Cag	p.E1116Q		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1116					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AGAGACTGCTCCATGTTTGAG	0.443																																						ENST00000156471.5																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57						c.(3346-3348)Gag>Cag		aquarius intron-binding spliceosomal factor							135.0	128.0	131.0					15																	35166957		1912	4137	6049	SO:0001583	missense	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35166957C>G	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.3346G>C	15.37:g.35166957C>G	ENSP00000156471:p.Glu1116Gln						p.E1116Q	NM_014691.2	NP_055506.1	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	29	3571	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	1116					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	c.3346G>C	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.947797	0.92593	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.82526	-1.62	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.90909	0.7143	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90643	0.4576	10	0.52906	T	0.07	-19.2454	19.4755	0.94985	0.0:1.0:0.0:0.0	.	1116	O60306	AQR_HUMAN	Q	1116	ENSP00000156471:E1116Q	ENSP00000156471:E1116Q	E	-	1	0	AQR	32954249	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.755000	0.85180	2.605000	0.88082	0.650000	0.86243	GAG		0.443	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		7	95	0	0	0	1	0	7	95				
TTN	7273	broad.mit.edu	37	2	179429174	179429174	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:179429174C>T	ENST00000591111.1	-	276	76986	c.76762G>A	c.(76762-76764)Gaa>Aaa	p.E25588K	TTN_ENST00000342175.6_Missense_Mutation_p.E18356K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E27229K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E18289K|TTN_ENST00000460472.2_Missense_Mutation_p.E18164K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E24661K			Q8WZ42	TITIN_HUMAN	titin	25588	Fibronectin type-III 86. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGTAAATTCAGTTTCTAAT	0.378																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(81685-81687)Gaa>Aaa		titin							66.0	61.0	63.0					2																	179429174		1849	4101	5950	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179429174C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.76762G>A	2.37:g.179429174C>T	ENSP00000465570:p.Glu25588Lys					TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E24661K|TTN_ENST00000359218.5_Missense_Mutation_p.E18289K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E18164K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E25588K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E18356K	p.E27229K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	81909	-			25588			Fibronectin type-III 98.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.81685G>A		.	.	.	.	.	.	.	.	.	.	C	12.80	2.046009	0.36085	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	6.16	5.28	0.74379	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53270	0.1786	L	0.47190	1.495	0.50467	D	0.999874	P;P;P;B	0.34462	0.454;0.454;0.454;0.309	B;B;B;B	0.38156	0.266;0.266;0.266;0.197	T	0.57106	-0.7868	9	0.87932	D	0	.	17.84	0.88712	0.0:0.8785:0.1215:0.0	.	18164;18289;18356;25588	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	24661;18164;18356;18289;18162	ENSP00000343764:E24661K;ENSP00000434586:E18164K;ENSP00000340554:E18356K;ENSP00000352154:E18289K	ENSP00000340554:E18356K	E	-	1	0	TTN	179137420	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.197000	0.58413	1.598000	0.50083	0.650000	0.86243	GAA		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	36	0	0	0	1	0	7	36				
PPM1B	5495	broad.mit.edu	37	2	44445164	44445164	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:44445164C>G	ENST00000282412.4	+	4	1435	c.1023C>G	c.(1021-1023)atC>atG	p.I341M	PPM1B_ENST00000345249.4_Missense_Mutation_p.I54M|PPM1B_ENST00000409432.3_Missense_Mutation_p.I341M|PPM1B_ENST00000378551.2_Missense_Mutation_p.I341M|PPM1B_ENST00000378540.4_3'UTR	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	341					cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCATGCGCATCTTGTCTGCAG	0.388																																						ENST00000378551.2																			0				kidney(4)|large_intestine(3)|lung(7)|skin(2)	16						c.(1021-1023)atC>atG		protein phosphatase, Mg2+/Mn2+ dependent, 1B							83.0	87.0	86.0					2																	44445164		2203	4300	6503	SO:0001583	missense	5495				protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr2:44445164C>G	AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9276	protein-coding gene	gene with protein product	"""protein phosphatase 2C, beta isoform"""	603770	"""protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"""			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757	ENST00000282412.4:c.1023C>G	2.37:g.44445164C>G	ENSP00000282412:p.Ile341Met					PPM1B_ENST00000409432.3_Missense_Mutation_p.I341M|PPM1B_ENST00000282412.4_Missense_Mutation_p.I341M|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000345249.4_Missense_Mutation_p.I54M	p.I341M	NM_177968.2	NP_808907.1	O75688	PPM1B_HUMAN			4	1435	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	341					Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Missense_Mutation	SNP	ENST00000282412.4	37	c.1023C>G	CCDS1817.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.390678	0.42410	.	.	ENSG00000138032	ENST00000419807;ENST00000409432;ENST00000282412;ENST00000378551;ENST00000345249;ENST00000409473	T;T;T;T;T	0.30714	1.96;1.96;1.9;1.96;1.52	5.6	3.69	0.42338	Protein serine/threonine phosphatase 2C, C-terminal (3);	0.182926	0.64402	D	0.000017	T	0.25975	0.0633	L	0.38175	1.15	0.80722	D	1	B;B;B;B	0.20780	0.048;0.001;0.008;0.001	B;B;B;B	0.33121	0.158;0.016;0.027;0.04	T	0.06320	-1.0833	10	0.46703	T	0.11	-9.2161	7.2644	0.26222	0.0:0.6029:0.0:0.3971	.	341;341;341;341	Q4J6C0;O75688-2;Q4J6C1;O75688	.;.;.;PPM1B_HUMAN	M	341;341;341;341;54;266	ENSP00000390087:I341M;ENSP00000387287:I341M;ENSP00000282412:I341M;ENSP00000367813:I341M;ENSP00000386982:I266M	ENSP00000282412:I341M	I	+	3	3	PPM1B	44298668	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.542000	0.45744	0.721000	0.32231	0.591000	0.81541	ATC		0.388	PPM1B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250672.1	NM_002706		10	83	0	0	0	1	0	10	83				
TTN	7273	broad.mit.edu	37	2	179431877	179431877	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:179431877C>T	ENST00000591111.1	-	276	74283	c.74059G>A	c.(74059-74061)Gaa>Aaa	p.E24687K	TTN_ENST00000342175.6_Missense_Mutation_p.E17455K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E26328K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E17388K|TTN_ENST00000460472.2_Missense_Mutation_p.E17263K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E23760K			Q8WZ42	TITIN_HUMAN	titin	24687	Fibronectin type-III 79. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGACTGGTTTCTCGCTTTTCA	0.413																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(78982-78984)Gaa>Aaa		titin							103.0	104.0	104.0					2																	179431877		1905	4115	6020	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179431877C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.74059G>A	2.37:g.179431877C>T	ENSP00000465570:p.Glu24687Lys					TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E23760K|TTN_ENST00000359218.5_Missense_Mutation_p.E17388K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E17263K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E24687K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E17455K	p.E26328K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	79206	-			24687			Ig-like 127.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.78982G>A		.	.	.	.	.	.	.	.	.	.	C	16.05	3.012604	0.54468	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.52	5.52	0.82312	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72061	0.3414	M	0.63208	1.945	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.74041	-0.3792	9	0.87932	D	0	.	19.4392	0.94811	0.0:1.0:0.0:0.0	.	17263;17388;17455;24687	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	23760;17263;17455;17388;17261	ENSP00000343764:E23760K;ENSP00000434586:E17263K;ENSP00000340554:E17455K;ENSP00000352154:E17388K	ENSP00000340554:E17455K	E	-	1	0	TTN	179140123	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.770000	0.85390	2.580000	0.87095	0.462000	0.41574	GAA		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	132	0	0	0	1	0	9	132				
CHN2	1124	broad.mit.edu	37	7	29544431	29544431	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr7:29544431G>A	ENST00000222792.6	+	10	1515	c.985G>A	c.(985-987)Gac>Aac	p.D329N	CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000539406.1_Missense_Mutation_p.D404N|CHN2_ENST00000439711.2_Missense_Mutation_p.D193N|CHN2_ENST00000495789.2_Missense_Mutation_p.D342N|CHN2_ENST00000421775.2_Missense_Mutation_p.D135N|CHN2_ENST00000546235.1_Missense_Mutation_p.D314N|CHN2_ENST00000539389.1_Missense_Mutation_p.D185N|CHN2_ENST00000424025.2_Missense_Mutation_p.D148N|CHN2_ENST00000409041.4_Missense_Mutation_p.D193N	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	329	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						AATGGCATTTGACAGAGGTAA	0.408																																					Ovarian(1;44 48 13232 18918 31480)	ENST00000222792.6																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						c.(985-987)Gac>Aac		chimerin 2							94.0	86.0	89.0					7																	29544431		2203	4300	6503	SO:0001583	missense	1124				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr7:29544431G>A	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.985G>A	7.37:g.29544431G>A	ENSP00000222792:p.Asp329Asn					CHN2_ENST00000435288.2_Intron|CHN2_ENST00000424025.2_Missense_Mutation_p.D148N|CHN2_ENST00000421775.2_Missense_Mutation_p.D135N|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000546235.1_Missense_Mutation_p.D314N|CHN2_ENST00000409041.4_Missense_Mutation_p.D193N|CHN2_ENST00000539389.1_Missense_Mutation_p.D185N|CHN2_ENST00000439711.2_Missense_Mutation_p.D193N|CHN2_ENST00000539406.1_Missense_Mutation_p.D404N|CHN2_ENST00000495789.2_Missense_Mutation_p.D342N	p.D329N	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN			10	1515	+			329			Rho-GAP.		A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	ENST00000222792.6	37	c.985G>A	CCDS5420.1	.	.	.	.	.	.	.	.	.	.	G	36	5.685203	0.96784	.	.	ENSG00000106069	ENST00000539406;ENST00000222792;ENST00000495789;ENST00000539389;ENST00000546235;ENST00000446446;ENST00000409041;ENST00000424025;ENST00000439711;ENST00000421775	T;T;T;T;T;T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66;2.66;2.66;2.66;2.66;2.66	6.08	6.08	0.98989	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.32941	0.0846	L	0.41356	1.27	0.80722	D	1	D;D;D;D;D;D;P;D;P;D;D;D;D;D;D	0.89917	1.0;0.997;0.999;1.0;1.0;1.0;0.947;0.998;0.938;1.0;1.0;0.999;1.0;1.0;0.999	D;D;D;D;D;D;P;D;D;D;D;D;D;D;D	0.97110	1.0;0.983;0.998;0.999;1.0;1.0;0.878;0.98;0.909;1.0;1.0;0.996;1.0;1.0;0.996	T	0.00544	-1.1679	10	0.87932	D	0	.	20.2585	0.98435	0.0:0.0:1.0:0.0	.	122;314;342;404;148;148;135;193;135;193;185;329;99;193;329	B7Z215;B7Z1W9;B7Z1V0;F5H003;B3VCF1;B3VCF2;B3VCF4;B3VCF7;B3VCF3;B3VCF6;B3VCG1;A4D1A2;B3VCF8;E9PGE0;P52757	.;.;.;.;.;.;.;.;.;.;.;.;.;.;CHIO_HUMAN	N	404;329;342;185;314;154;193;148;193;135	ENSP00000444063:D404N;ENSP00000222792:D329N;ENSP00000438587:D342N;ENSP00000440526:D185N;ENSP00000442812:D314N;ENSP00000396867:D154N;ENSP00000386849:D193N;ENSP00000406337:D148N;ENSP00000387425:D193N;ENSP00000394284:D135N	ENSP00000222792:D329N	D	+	1	0	CHN2	29510956	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.894000	0.99253	0.655000	0.94253	GAC		0.408	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067		6	73	0	0	0	1	0	6	73				
ACTR1B	10120	broad.mit.edu	37	2	98274689	98274689	+	Missense_Mutation	SNP	C	C	T	rs151155439		TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:98274689C>T	ENST00000289228.5	-	7	964	c.748G>A	c.(748-750)Gat>Aat	p.D250N		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	250					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						CCACTTACATCAAGCGTGCTG	0.622																																						ENST00000289228.5																			0				endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						c.(748-750)Gat>Aat		ARP1 actin-related protein 1 homolog B, centractin beta (yeast)							75.0	60.0	65.0					2																	98274689		2203	4300	6503	SO:0001583	missense	10120					centrosome|dynactin complex	ATP binding|protein binding	g.chr2:98274689C>T	X82207	CCDS2033.1	2q11.1-q11.2	2008-05-20	2001-11-28		ENSG00000115073	ENSG00000115073			168	protein-coding gene	gene with protein product		605144	"""ARP1 (actin-related protein 1, yeast) homolog B (centractin beta)"""	CTRN2		7696711, 10343100	Standard	NM_005735		Approved		uc002syb.2	P42025	OTTHUMG00000130549	ENST00000289228.5:c.748G>A	2.37:g.98274689C>T	ENSP00000289228:p.Asp250Asn						p.D250N	NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN			7	964	-			250					D3DVH2|Q53SK5|Q9BRB7	Missense_Mutation	SNP	ENST00000289228.5	37	c.748G>A	CCDS2033.1	.	.	.	.	.	.	.	.	.	.	.	6.230	0.410636	0.11812	.	.	ENSG00000115073	ENST00000289228	T	0.08193	3.12	4.72	4.72	0.59763	.	0.202104	0.42682	D	0.000671	T	0.05686	0.0149	N	0.10645	0.015	0.32677	N	0.515963	B	0.02656	0.0	B	0.08055	0.003	T	0.08046	-1.0741	10	0.66056	D	0.02	.	15.2169	0.73274	0.0:1.0:0.0:0.0	.	250	P42025	ACTY_HUMAN	N	250	ENSP00000289228:D250N	ENSP00000289228:D250N	D	-	1	0	ACTR1B	97641121	1.000000	0.71417	0.108000	0.21378	0.217000	0.24651	4.370000	0.59517	2.454000	0.82982	0.655000	0.94253	GAT		0.622	ACTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252973.1	NM_005735		5	37	0	0	0	1	0	5	37				
TBC1D24	57465	broad.mit.edu	37	16	2546545	2546545	+	Silent	SNP	C	C	T	rs371937830		TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr16:2546545C>T	ENST00000293970.5	+	2	529	c.396C>T	c.(394-396)ccC>ccT	p.P132P	TBC1D24_ENST00000434757.2_Silent_p.P132P|RP11-20I23.1_ENST00000564543.1_Silent_p.P132P|TBC1D24_ENST00000567020.1_Silent_p.P132P	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	132	Rab-GAP TBC.				neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						CCTTCTGCCCCGCCCTGCCGG	0.682																																						ENST00000567020.1																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						c.(394-396)ccC>ccT		TBC1 domain family, member 24							31.0	39.0	36.0					16																	2546545		2126	4235	6361	SO:0001819	synonymous_variant	57465				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity	g.chr16:2546545C>T	AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 6"""	613577	"""deafness, autosomal recessive 86"""	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.396C>T	16.37:g.2546545C>T						RP11-20I23.1_ENST00000564543.1_Silent_p.P132P|TBC1D24_ENST00000434757.2_Silent_p.P132P|TBC1D24_ENST00000293970.5_Silent_p.P132P	p.P132P	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN			2	536	+			132			Rab-GAP TBC.		A0JNW3|B9A6M6|Q2KJ08	Silent	SNP	ENST00000293970.5	37	c.396C>T	CCDS55980.1																																																																																				0.682	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000435637.1	NM_020705		7	59	0	0	0	1	0	7	59				
MTF1	4520	broad.mit.edu	37	1	38287971	38287971	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:38287971G>T	ENST00000373036.4	-	9	1729	c.1589C>A	c.(1588-1590)cCa>cAa	p.P530Q		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	530					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GACCATGGCTGGCAGGGGCTC	0.567																																						ENST00000373036.4																			0				endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31						c.(1588-1590)cCa>cAa		metal-regulatory transcription factor 1							97.0	91.0	93.0					1																	38287971		2203	4300	6503	SO:0001583	missense	4520					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr1:38287971G>T	BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.1589C>A	1.37:g.38287971G>T	ENSP00000362127:p.Pro530Gln						p.P530Q	NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN			9	1729	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	530					B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	c.1589C>A	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725789	0.69074	.	.	ENSG00000188786	ENST00000373036	T	0.41065	1.01	5.85	5.85	0.93711	.	0.184039	0.51477	D	0.000089	T	0.48943	0.1528	L	0.54323	1.7	0.51767	D	0.999937	P	0.46706	0.883	P	0.45037	0.467	T	0.50457	-0.8826	10	0.72032	D	0.01	.	20.1775	0.98187	0.0:0.0:1.0:0.0	.	530	Q14872	MTF1_HUMAN	Q	530	ENSP00000362127:P530Q	ENSP00000362127:P530Q	P	-	2	0	MTF1	38060558	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.059000	0.71133	2.771000	0.95319	0.561000	0.74099	CCA		0.567	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		4	40	1	0	0.184627	1	0.185941	4	40				
ZSCAN10	84891	broad.mit.edu	37	16	3141583	3141583	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr16:3141583C>T	ENST00000252463.2	-	4	667	c.580G>A	c.(580-582)Gag>Aag	p.E194K	ZSCAN10_ENST00000572548.1_3'UTR|ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.E112K	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	194					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GGCACATCCTCAAAGGTCAGG	0.512																																						ENST00000252463.2																			0				breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						c.(580-582)Gag>Aag		zinc finger and SCAN domain containing 10							78.0	77.0	78.0					16																	3141583		2197	4300	6497	SO:0001583	missense	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3141583C>T	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.580G>A	16.37:g.3141583C>T	ENSP00000252463:p.Glu194Lys					ZSCAN10_ENST00000538082.2_Missense_Mutation_p.E112K|ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000572548.1_3'UTR	p.E194K	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN			4	667	-			194					B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	ENST00000252463.2	37	c.580G>A	CCDS10493.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.226290	0.39300	.	.	ENSG00000130182	ENST00000538082;ENST00000252463	T	0.05855	3.38	4.65	3.61	0.41365	.	0.000000	0.47455	D	0.000223	T	0.06416	0.0165	N	0.08118	0	0.80722	D	1	B;D	0.61697	0.437;0.99	B;P	0.57204	0.081;0.815	T	0.52571	-0.8558	10	0.21540	T	0.41	-22.7873	10.1871	0.43004	0.0:0.7973:0.2027:0.0	.	127;194	Q1WWM2;Q96SZ4	.;ZSC10_HUMAN	K	127;194	ENSP00000252463:E194K	ENSP00000252463:E194K	E	-	1	0	ZSCAN10	3081584	0.987000	0.35691	1.000000	0.80357	0.724000	0.41520	1.896000	0.39789	2.300000	0.77407	0.561000	0.74099	GAG		0.512	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		5	62	0	0	0	1	0	5	62				
CPSF7	79869	broad.mit.edu	37	11	61183233	61183233	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:61183233G>C	ENST00000394888.4	-	7	1161	c.989C>G	c.(988-990)tCt>tGt	p.S330C	CPSF7_ENST00000439958.3_Missense_Mutation_p.S321C|CPSF7_ENST00000340437.4_Missense_Mutation_p.S373C|CPSF7_ENST00000448745.1_Missense_Mutation_p.S321C	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	330					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						ACTCACTGTAGAGGGTGGAGG	0.438																																						ENST00000340437.4																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						c.(1117-1119)tCt>tGt		cleavage and polyadenylation specific factor 7, 59kDa							116.0	101.0	106.0					11																	61183233		2202	4299	6501	SO:0001583	missense	79869				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	g.chr11:61183233G>C		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.989C>G	11.37:g.61183233G>C	ENSP00000378352:p.Ser330Cys					CPSF7_ENST00000448745.1_Missense_Mutation_p.S321C|CPSF7_ENST00000439958.3_Missense_Mutation_p.S321C|CPSF7_ENST00000394888.4_Missense_Mutation_p.S330C	p.S373C	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN			7	1198	-			330					B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Missense_Mutation	SNP	ENST00000394888.4	37	c.1118C>G	CCDS44619.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438408	0.83885	.	.	ENSG00000149532	ENST00000340437;ENST00000394888;ENST00000439958;ENST00000448745;ENST00000544147;ENST00000477890	D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46	5.81	5.81	0.92471	.	0.298045	0.37669	N	0.001994	D	0.85146	0.5630	N	0.08118	0	0.80722	D	1	B;P;P	0.50943	0.396;0.94;0.531	B;P;P	0.51550	0.353;0.673;0.556	D	0.87940	0.2716	10	0.62326	D	0.03	-4.619	17.5734	0.87941	0.0:0.0:1.0:0.0	.	330;373;321	Q8N684;Q8N684-3;Q8N684-2	CPSF7_HUMAN;.;.	C	373;330;321;321;96;254	ENSP00000345412:S373C;ENSP00000378352:S330C;ENSP00000397203:S321C;ENSP00000407394:S321C;ENSP00000437860:S254C	ENSP00000345412:S373C	S	-	2	0	CPSF7	60939809	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.135000	0.71696	2.758000	0.94735	0.460000	0.39030	TCT		0.438	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		8	93	0	0	0	1	0	8	93				
ZNF281	23528	broad.mit.edu	37	1	200377405	200377405	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:200377405T>C	ENST00000294740.3	-	2	1553	c.1429A>G	c.(1429-1431)Aaa>Gaa	p.K477E	ZNF281_ENST00000367353.1_Missense_Mutation_p.K477E|ZNF281_ENST00000367352.3_Missense_Mutation_p.K441E	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	477					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						AGGTAGTTTTTATCTGTATTC	0.398																																						ENST00000294740.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1429-1431)Aaa>Gaa		zinc finger protein 281							104.0	99.0	101.0					1																	200377405		2203	4300	6503	SO:0001583	missense	23528				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200377405T>C	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.1429A>G	1.37:g.200377405T>C	ENSP00000294740:p.Lys477Glu					ZNF281_ENST00000367353.1_Missense_Mutation_p.K477E|ZNF281_ENST00000367352.3_Missense_Mutation_p.K441E	p.K477E	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN			2	1553	-			477					A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	37	c.1429A>G	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	T	19.17	3.775988	0.70107	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.13089	2.62;2.62;2.63	5.79	5.79	0.91817	.	0.144583	0.64402	D	0.000008	T	0.36717	0.0977	M	0.68593	2.085	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.04946	-1.0916	10	0.52906	T	0.07	-12.4998	16.1415	0.81528	0.0:0.0:0.0:1.0	.	441;477	A6NF48;Q9Y2X9	.;ZN281_HUMAN	E	477;477;441;182	ENSP00000294740:K477E;ENSP00000356322:K477E;ENSP00000356321:K441E	ENSP00000294740:K477E	K	-	1	0	ZNF281	198644028	1.000000	0.71417	0.941000	0.38009	0.962000	0.63368	7.463000	0.80869	2.198000	0.70561	0.533000	0.62120	AAA		0.398	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482		8	112	0	0	0	1	0	8	112				
FAT4	79633	broad.mit.edu	37	4	126373805	126373805	+	Silent	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr4:126373805C>T	ENST00000394329.3	+	9	11647	c.11634C>T	c.(11632-11634)caC>caT	p.H3878H	FAT4_ENST00000335110.5_Silent_p.H2176H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3878	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAACCTGTCACAATTTAGTGG	0.478																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(11632-11634)caC>caT		FAT atypical cadherin 4							61.0	61.0	61.0					4																	126373805		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126373805C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.11634C>T	4.37:g.126373805C>T						FAT4_ENST00000335110.5_Silent_p.H2176H	p.H3878H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	11647	+			3878			EGF-like 2; calcium-binding (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.11634C>T	CCDS3732.3																																																																																				0.478	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		8	47	0	0	0	1	0	8	47				
MYLK	4638	broad.mit.edu	37	3	123357035	123357035	+	Missense_Mutation	SNP	G	G	A	rs202177283		TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr3:123357035G>A	ENST00000475616.1	-	26	4843	c.4844C>T	c.(4843-4845)gCg>gTg	p.A1615V	MYLK_ENST00000360772.3_Missense_Mutation_p.A1615V|MYLK_ENST00000359169.1_Missense_Mutation_p.A1615V|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000354792.5_Missense_Mutation_p.A415V|MYLK_ENST00000360304.3_Missense_Mutation_p.A1615V|MYLK_ENST00000346322.5_Missense_Mutation_p.A1546V			Q15746	MYLK_HUMAN	myosin light chain kinase	1615	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAGAGACCCCGCATTCTCTGA	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		20110	0.0		0.001	False		,,,				2504	0.0					ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(4843-4845)gCg>gTg		myosin light chain kinase		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	58.0	59.0	59.0		4844,4637,4844,4637	5.2	1.0	3		59	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense	MYLK	NM_053025.3,NM_053026.3,NM_053027.3,NM_053028.3	64,64,64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1615/1915,1546/1846,1615/1864,1546/1795	123357035	1,13005	2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123357035G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.4844C>T	3.37:g.123357035G>A	ENSP00000418335:p.Ala1615Val					MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000475616.1_Missense_Mutation_p.A1615V|MYLK_ENST00000360304.3_Missense_Mutation_p.A1615V|MYLK_ENST00000359169.1_Missense_Mutation_p.A1615V|MYLK_ENST00000354792.5_Missense_Mutation_p.A415V|MYLK_ENST00000346322.5_Missense_Mutation_p.A1546V	p.A1615V			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	30	5222	-		Lung NSC(201;0.0496)	1615			Protein kinase.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.4844C>T	CCDS46896.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	20.1	3.939337	0.73557	0.0	1.16E-4	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.15	5.15	0.70609	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.70613	0.3244	N	0.25825	0.765	0.46725	D	0.999175	P;D;D;D;P	0.76494	0.934;0.999;0.982;0.999;0.947	B;P;P;P;P	0.59643	0.422;0.861;0.503;0.861;0.636	T	0.74269	-0.3720	9	0.59425	D	0.04	.	18.6204	0.91319	0.0:0.0:1.0:0.0	.	1615;1546;1615;1546;1615	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	V	1615;1615;1615;1546;415;1615	ENSP00000354004:A1615V;ENSP00000353452:A1615V;ENSP00000352088:A1615V;ENSP00000320622:A1546V;ENSP00000346846:A415V;ENSP00000418335:A1615V	ENSP00000320622:A1546V	A	-	2	0	MYLK	124839725	1.000000	0.71417	0.977000	0.42913	0.569000	0.35902	7.953000	0.87836	2.389000	0.81357	0.455000	0.32223	GCG		0.552	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		4	101	0	0	0	1	0	4	101				
CDK17	5128	broad.mit.edu	37	12	96674555	96674555	+	Intron	SNP	C	C	T	rs201367937		TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr12:96674555C>T	ENST00000261211.3	-	16	2138				CDK17_ENST00000543119.2_Missense_Mutation_p.R522Q|CDK17_ENST00000542666.1_Missense_Mutation_p.R469Q	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17						protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						AATTCATGATCGACACGTGAA	0.348													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19403	0.0		0.0	False		,,,				2504	0.0					ENST00000543119.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						c.(1564-1566)cGa>cAa		cyclin-dependent kinase 17		C	GLN/ARG,	1,4405	2.1+/-5.4	0,1,2202	54.0	52.0	53.0		1565,	5.0	1.0	12		53	9,8591	7.1+/-27.0	0,9,4291	yes	missense,intron	CDK17	NM_001170464.2,NM_002595.4	43,	0,10,6493	TT,TC,CC		0.1047,0.0227,0.0769	,	522/524,	96674555	10,12996	2203	4300	6503	SO:0001627	intron_variant	5128						ATP binding|cyclin-dependent protein kinase activity	g.chr12:96674555C>T		CCDS9061.1, CCDS53819.1	12q23.1	2011-11-08	2009-12-16	2009-12-16		ENSG00000059758		"""Cyclin-dependent kinases"""	8750	protein-coding gene	gene with protein product		603440	"""PCTAIRE protein kinase 2"""	PCTK2		9370357, 19884882	Standard	NM_001170464		Approved	PCTAIRE2	uc009ztk.3	Q00537		ENST00000261211.3:c.1534+30G>A	12.37:g.96674555C>T						CDK17_ENST00000542666.1_Missense_Mutation_p.R469Q|CDK17_ENST00000261211.3_Intron	p.R522Q			Q00537	CDK17_HUMAN			16	2088	-			0					A8K1U6|B2RCQ2|Q8NEB8	Missense_Mutation	SNP	ENST00000261211.3	37	c.1565G>A	CCDS9061.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858142	0.71834	2.27E-4	0.001047	ENSG00000059758	ENST00000543119;ENST00000542666	T;T	0.70516	-0.49;-0.48	5.91	5.02	0.67125	.	.	.	.	.	T	0.51890	0.1701	N	0.08118	0	0.23411	N	0.99774	B	0.09022	0.002	B	0.01281	0.0	T	0.49312	-0.8953	9	0.87932	D	0	.	10.7918	0.46436	0.0:0.9138:0.0:0.0862	.	522	A8K1U6	.	Q	522;469	ENSP00000444459:R522Q;ENSP00000442926:R469Q	ENSP00000442926:R469Q	R	-	2	0	CDK17	95198686	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.622000	0.36997	1.511000	0.48818	0.655000	0.94253	CGA		0.348	CDK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408751.1	NM_002595		10	38	0	0	0	1	0	10	38				
ZIM3	114026	broad.mit.edu	37	19	57648307	57648307	+	Silent	SNP	A	A	G			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr19:57648307A>G	ENST00000269834.1	-	4	560	c.175T>C	c.(175-177)Ttg>Ctg	p.L59L	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	59	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCCAACCTCAAGATCACATCG	0.517																																						ENST00000269834.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52						c.(175-177)Ttg>Ctg		zinc finger, imprinted 3							284.0	198.0	228.0					19																	57648307		2203	4300	6503	SO:0001819	synonymous_variant	114026				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57648307A>G	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.175T>C	19.37:g.57648307A>G							p.L59L	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	560	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	59			KRAB.		Q14CA6	Silent	SNP	ENST00000269834.1	37	c.175T>C	CCDS33125.1																																																																																				0.517	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			9	75	0	0	0	1	0	9	75				
ADAMTS3	9508	broad.mit.edu	37	4	73149139	73149139	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr4:73149139C>T	ENST00000286657.4	-	22	3368	c.3332G>A	c.(3331-3333)gGt>gAt	p.G1111D		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1111					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGCATTTGGACCTCCCACTGA	0.468																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(3331-3333)gGt>gAt		ADAM metallopeptidase with thrombospondin type 1 motif, 3							108.0	99.0	102.0					4																	73149139		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73149139C>T	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.3332G>A	4.37:g.73149139C>T	ENSP00000286657:p.Gly1111Asp						p.G1111D	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		22	3368	-			1111					A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.3332G>A	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	1.480	-0.557387	0.03967	.	.	ENSG00000156140	ENST00000286657	T	0.59502	0.26	5.56	-0.304	0.12788	.	0.950360	0.08765	N	0.897086	T	0.36608	0.0973	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.21280	-1.0250	10	0.15499	T	0.54	.	5.7543	0.18164	0.0:0.293:0.1479:0.5591	.	1111	O15072	ATS3_HUMAN	D	1111	ENSP00000286657:G1111D	ENSP00000286657:G1111D	G	-	2	0	ADAMTS3	73368003	0.001000	0.12720	0.001000	0.08648	0.007000	0.05969	-0.163000	0.09997	0.042000	0.15717	-0.226000	0.12346	GGT		0.468	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			13	96	0	0	0	1	0	13	96				
LRRFIP2	9209	broad.mit.edu	37	3	37162988	37162988	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr3:37162988G>A	ENST00000336686.4	-	6	405	c.325C>T	c.(325-327)Cac>Tac	p.H109Y	LRRFIP2_ENST00000354379.4_Intron|LRRFIP2_ENST00000440230.1_Intron|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.H92Y|LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000421307.1_Missense_Mutation_p.H109Y			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	109	DVL3-binding.				Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CCAACCCTGTGACTGCCAACA	0.358																																						ENST00000421307.1																			1	Whole gene deletion(1)	p.0?(1)	ovary(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(325-327)Cac>Tac		leucine rich repeat (in FLII) interacting protein 2							118.0	105.0	109.0					3																	37162988		2203	4300	6503	SO:0001583	missense	9209				Wnt receptor signaling pathway		LRR domain binding	g.chr3:37162988G>A	AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.325C>T	3.37:g.37162988G>A	ENSP00000338727:p.His109Tyr					LRRFIP2_ENST00000396428.2_Missense_Mutation_p.H92Y|LRRFIP2_ENST00000336686.4_Missense_Mutation_p.H109Y|LRRFIP2_ENST00000354379.4_Intron|LRRFIP2_ENST00000440230.1_Intron|LRRFIP2_ENST00000421276.2_Intron	p.H109Y	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN			7	747	-			109			DVL3-binding.		A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Missense_Mutation	SNP	ENST00000336686.4	37	c.325C>T	CCDS2664.1	.	.	.	.	.	.	.	.	.	.	G	4.486	0.090093	0.08632	.	.	ENSG00000093167	ENST00000421307;ENST00000336686;ENST00000396428	T;T;T	0.42131	0.98;0.98;0.98	5.3	5.3	0.74995	.	0.146618	0.47455	D	0.000238	T	0.25158	0.0611	N	0.14661	0.345	0.27293	N	0.957785	B;B	0.17667	0.004;0.023	B;B	0.15052	0.003;0.012	T	0.08576	-1.0715	10	0.12766	T	0.61	-11.3021	13.6488	0.62299	0.0767:0.0:0.9233:0.0	.	92;109	A8MXR0;Q9Y608	.;LRRF2_HUMAN	Y	109;109;92	ENSP00000392217:H109Y;ENSP00000338727:H109Y;ENSP00000379705:H92Y	ENSP00000338727:H109Y	H	-	1	0	LRRFIP2	37137992	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.159000	0.50731	2.641000	0.89580	0.650000	0.86243	CAC		0.358	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253335.3	NM_006309		4	53	0	0	0	1	0	4	53				
UBR2	23304	broad.mit.edu	37	6	42638408	42638408	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr6:42638408G>C	ENST00000372899.1	+	36	4299	c.4041G>C	c.(4039-4041)ttG>ttC	p.L1347F	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372901.1_Missense_Mutation_p.L1347F	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1347					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AAAGAATTTTGAGTGATGAAG	0.308																																						ENST00000372899.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(4039-4041)ttG>ttC		ubiquitin protein ligase E3 component n-recognin 2							152.0	149.0	150.0					6																	42638408		2203	4300	6503	SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42638408G>C	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.4041G>C	6.37:g.42638408G>C	ENSP00000361990:p.Leu1347Phe					UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372901.1_Missense_Mutation_p.L1347F	p.L1347F	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		36	4299	+	Colorectal(47;0.196)		1347					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.4041G>C	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294720	0.60086	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.61158	0.13;0.13	5.2	3.07	0.35406	.	0.000000	0.64402	D	0.000001	T	0.59169	0.2174	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.59663	-0.7412	10	0.25751	T	0.34	-3.3489	4.7238	0.12931	0.6685:0.0:0.3315:0.0	.	1347;1347	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	F	1347	ENSP00000361990:L1347F;ENSP00000361992:L1347F	ENSP00000361990:L1347F	L	+	3	2	UBR2	42746386	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	2.542000	0.45744	0.436000	0.26393	0.655000	0.94253	TTG		0.308	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		14	90	0	0	0	1	0	14	90				
ZNF831	128611	broad.mit.edu	37	20	57767136	57767136	+	Silent	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr20:57767136G>A	ENST00000371030.2	+	1	1062	c.1062G>A	c.(1060-1062)gaG>gaA	p.E354E		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	354							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACAGCGCGGAGCAGCCGCATG	0.756																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(1060-1062)gaG>gaA		zinc finger protein 831							12.0	14.0	14.0					20																	57767136		1557	3498	5055	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57767136G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1062G>A	20.37:g.57767136G>A							p.E354E	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	1062	+	all_lung(29;0.0085)		354					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.1062G>A	CCDS42894.1																																																																																				0.756	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		13	41	0	0	0	1	0	13	41				
DUS2	54920	broad.mit.edu	37	16	68072007	68072007	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr16:68072007G>C	ENST00000565263.1	+	3	575	c.81G>C	c.(79-81)atG>atC	p.M27I	DUS2_ENST00000432752.1_Missense_Mutation_p.M27I|DUS2_ENST00000358896.6_Missense_Mutation_p.M27I	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2	27					negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)|flavin adenine dinucleotide binding (GO:0050660)|protein kinase inhibitor activity (GO:0004860)|tRNA dihydrouridine synthase activity (GO:0017150)										CTCTTCCAATGAGGCTGCTGG	0.488																																						ENST00000565263.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						c.(79-81)atG>atC									143.0	125.0	131.0					16																	68072007		2198	4300	6498	SO:0001583	missense	54920				tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr16:68072007G>C		CCDS10859.1, CCDS61970.1	16q22.1	2013-07-23	2013-07-23	2013-07-23	ENSG00000167264	ENSG00000167264			26014	protein-coding gene	gene with protein product	"""SMM1 homolog (S. cerevisiae)"""	609707	"""dihydrouridine synthase 2-like (SMM1, S. cerevisiae)"", ""dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae)"", ""dihydrouridine synthase 2-like"""	DUS2L		15994936, 22741570	Standard	NM_017803		Approved	FLJ20399, SMM1	uc002evj.4	Q9NX74	OTTHUMG00000137538	ENST00000565263.1:c.81G>C	16.37:g.68072007G>C	ENSP00000455229:p.Met27Ile					DUS2L_ENST00000432752.1_Missense_Mutation_p.M27I|DUS2L_ENST00000358896.6_Missense_Mutation_p.M27I	p.M27I	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)	3	575	+		Ovarian(137;0.192)	27					A8K3G3|Q4H4D9	Missense_Mutation	SNP	ENST00000565263.1	37	c.81G>C	CCDS10859.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.988422	0.53934	.	.	ENSG00000167264	ENST00000358896;ENST00000432752	T;T	0.27890	1.64;1.98	5.08	5.08	0.68730	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	T	0.49609	0.1567	M	0.69185	2.1	0.80722	D	1	B;P	0.47253	0.047;0.892	B;P	0.55222	0.065;0.771	T	0.47235	-0.9133	10	0.46703	T	0.11	-39.6857	18.0674	0.89395	0.0:0.0:1.0:0.0	.	27;27	E7EUN9;Q9NX74	.;DUS2L_HUMAN	I	27	ENSP00000351769:M27I;ENSP00000409498:M27I	ENSP00000351769:M27I	M	+	3	0	DUS2L	66629508	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.754000	0.91642	2.367000	0.80283	0.585000	0.79938	ATG		0.488	DUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268869.2	NM_017803		8	117	0	0	0	1	0	8	117				
TLR6	10333	broad.mit.edu	37	4	38828727	38828727	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr4:38828727C>T	ENST00000381950.1	-	1	2433	c.2368G>A	c.(2368-2370)Gaa>Aaa	p.E790K	TLR6_ENST00000436693.2_Missense_Mutation_p.E790K			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	790					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|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)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCATTGTTTTCAGTGACTAGT	0.363																																						ENST00000436693.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(2368-2370)Gaa>Aaa		toll-like receptor 6							41.0	43.0	42.0					4																	38828727		2203	4298	6501	SO:0001583	missense	10333				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	g.chr4:38828727C>T		CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"""CD molecules"""	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.2368G>A	4.37:g.38828727C>T	ENSP00000371376:p.Glu790Lys					TLR6_ENST00000381950.1_Missense_Mutation_p.E790K	p.E790K	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN			2	2487	-			790					B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	ENST00000381950.1	37	c.2368G>A	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767521	0.69878	.	.	ENSG00000174130	ENST00000436693;ENST00000381950;ENST00000508542	T;T	0.08634	3.07;3.07	4.89	4.04	0.47022	Toll/interleukin-1 receptor homology (TIR) domain (1);	0.395446	0.24054	N	0.041972	T	0.11580	0.0282	M	0.75447	2.3	0.39948	D	0.974497	B	0.31077	0.307	B	0.24155	0.051	T	0.03524	-1.1028	10	0.66056	D	0.02	.	11.0197	0.47711	0.0:0.9093:0.0:0.0907	.	790	Q9Y2C9	TLR6_HUMAN	K	790;790;474	ENSP00000389600:E790K;ENSP00000371376:E790K	ENSP00000371376:E790K	E	-	1	0	TLR6	38505122	0.261000	0.24063	0.462000	0.27118	0.249000	0.25844	1.377000	0.34317	1.421000	0.47157	0.655000	0.94253	GAA		0.363	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1			4	36	0	0	0	1	0	4	36				
MUC5B	727897	broad.mit.edu	37	11	1264910	1264910	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:1264910C>T	ENST00000529681.1	+	31	6858	c.6800C>T	c.(6799-6801)tCt>tTt	p.S2267F	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.S2270F	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2267	7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCACCCCCTTCTCCAGGGACG	0.672																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(6808-6810)tCt>tTt		mucin 5B, oligomeric mucus/gel-forming							128.0	158.0	148.0					11																	1264910		2156	4232	6388	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1264910C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6800C>T	11.37:g.1264910C>T	ENSP00000436812:p.Ser2267Phe					MUC5B_ENST00000529681.1_Missense_Mutation_p.S2267F|RP11-532E4.2_ENST00000532061.2_RNA	p.S2270F			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	6867	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2267			7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.6809C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	9.935	1.215967	0.22373	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.18960	2.18;2.37	1.65	1.65	0.23941	.	.	.	.	.	T	0.33876	0.0878	L	0.50333	1.59	0.09310	N	1	D;D	0.58970	0.984;0.984	P;P	0.62435	0.902;0.902	T	0.06570	-1.0819	9	0.87932	D	0	.	8.9548	0.35812	0.0:1.0:0.0:0.0	.	2905;2270	A7Y9J9;E9PBJ0	.;.	F	2267;2270;2268;2282	ENSP00000436812:S2267F;ENSP00000415793:S2270F	ENSP00000343037:S2268F	S	+	2	0	MUC5B	1221486	0.001000	0.12720	0.001000	0.08648	0.082000	0.17680	1.320000	0.33666	1.276000	0.44395	0.305000	0.20034	TCT		0.672	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		11	201	0	0	0	1	0	11	201				
INO80D	54891	broad.mit.edu	37	2	206884551	206884551	+	Silent	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:206884551C>T	ENST00000403263.1	-	7	1721	c.1317G>A	c.(1315-1317)ctG>ctA	p.L439L		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	439					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						CCACCTCCCTCAGCTTGGTCC	0.423																																						ENST00000403263.1																			0				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						c.(1315-1317)ctG>ctA		INO80 complex subunit D							87.0	82.0	84.0					2																	206884551		1937	4145	6082	SO:0001819	synonymous_variant	54891				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:206884551C>T		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.1317G>A	2.37:g.206884551C>T							p.L439L	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN			7	1721	-			439					B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Silent	SNP	ENST00000403263.1	37	c.1317G>A	CCDS46500.1																																																																																				0.423	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759		6	22	0	0	0	1	0	6	22				
PPP1R9A	55607	broad.mit.edu	37	7	94855306	94855306	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr7:94855306G>A	ENST00000433881.1	+	7	2456	c.1924G>A	c.(1924-1926)Gag>Aag	p.E642K	PPP1R9A_ENST00000456331.2_Missense_Mutation_p.E642K|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.E664K|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.E642K|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.E642K|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.E642K			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	642	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AGAAGAAGATGAGGTAGGACC	0.473										HNSCC(28;0.073)																												ENST00000289495.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(1924-1926)Gag>Aag		protein phosphatase 1, regulatory subunit 9A							122.0	106.0	111.0					7																	94855306		2203	4300	6503	SO:0001583	missense	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94855306G>A	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.1924G>A	7.37:g.94855306G>A	ENSP00000398870:p.Glu642Lys	HNSCC(28;0.073)				PPP1R9A_ENST00000424654.1_Missense_Mutation_p.E642K|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.E642K|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.E642K|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.E642K|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.E664K	p.E642K	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		6	2140	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		642			Interacts with TGN38 (By similarity).		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.1924G>A	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768463	0.49680	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.15834	2.39;2.41;2.4;2.41;2.4;2.4	5.12	5.12	0.69794	.	0.268306	0.41712	D	0.000828	T	0.18759	0.0450	L	0.43923	1.385	0.46356	D	0.999006	B;B;P;B;B	0.37824	0.136;0.214;0.609;0.361;0.215	B;B;B;B;B	0.35182	0.04;0.096;0.197;0.073;0.031	T	0.02047	-1.1223	10	0.59425	D	0.04	.	19.1381	0.93436	0.0:0.0:1.0:0.0	.	642;642;664;642;642	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	K	664;642;642;642;642;642	ENSP00000405514:E664K;ENSP00000344524:E642K;ENSP00000411342:E642K;ENSP00000398870:E642K;ENSP00000289495:E642K;ENSP00000402893:E642K	ENSP00000289495:E642K	E	+	1	0	PPP1R9A	94693242	1.000000	0.71417	0.992000	0.48379	0.053000	0.15095	8.452000	0.90346	2.836000	0.97738	0.655000	0.94253	GAG		0.473	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		4	111	0	0	0	1	0	4	111				
MUC6	4588	broad.mit.edu	37	11	1017087	1017087	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:1017087G>T	ENST00000421673.2	-	31	5764	c.5714C>A	c.(5713-5715)tCc>tAc	p.S1905Y		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1905	Approximate repeats.|Thr-rich.			SP -> AA (in Ref. 5; AAA35866). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGAGCTTGGGGATTGGCTGGT	0.552																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(5713-5715)tCc>tAc		mucin 6, oligomeric mucus/gel-forming							651.0	683.0	672.0					11																	1017087		2199	4281	6480	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1017087G>T	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5714C>A	11.37:g.1017087G>T	ENSP00000406861:p.Ser1905Tyr						p.S1905Y	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	5764	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1905	SP -> AA (in Ref. 5; AAA35866).		Approximate repeats.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.5714C>A	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094970	0.36952	.	.	ENSG00000184956	ENST00000421673	T	0.19938	2.11	3.01	2.0	0.26442	.	.	.	.	.	T	0.22859	0.0552	N	0.08118	0	0.09310	N	1	D	0.64830	0.994	D	0.69142	0.962	T	0.15867	-1.0422	9	0.72032	D	0.01	.	9.0774	0.36531	0.0:0.0:0.778:0.222	.	1905	Q6W4X9	MUC6_HUMAN	Y	1905	ENSP00000406861:S1905Y	ENSP00000406861:S1905Y	S	-	2	0	MUC6	1007087	0.003000	0.15002	0.001000	0.08648	0.005000	0.04900	1.321000	0.33678	0.489000	0.27749	0.313000	0.20887	TCC		0.552	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		20	1105	1	0	3.27435e-08	1	3.67715e-08	20	1105				
PTCHD4	442213	broad.mit.edu	37	6	47976658	47976658	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr6:47976658C>T	ENST00000339488.4	-	2	652	c.619G>A	c.(619-621)Gag>Aag	p.E207K	PTCHD4_ENST00000543600.1_Missense_Mutation_p.E190K	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	207						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										TGATGCTCCTCCTGGAGCTTC	0.502																																						ENST00000543600.1																			0											c.(568-570)Gag>Aag		patched domain containing 4							64.0	62.0	62.0					6																	47976658		1905	4133	6038	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47976658C>T		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.619G>A	6.37:g.47976658C>T	ENSP00000341914:p.Glu207Lys					PTCHD4_ENST00000339488.4_Missense_Mutation_p.E207K	p.E190K			Q6ZW05	CF138_HUMAN			2	607	-			207					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.568G>A	CCDS34473.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.171|4.171	0.030359|0.030359	0.08101|0.08101	.|.	.|.	ENSG00000244694|ENSG00000244694	ENST00000339488;ENST00000543600|ENST00000398738	D;D|.	0.85484|.	-1.99;-1.99|.	6.16|6.16	5.28|5.28	0.74379|0.74379	.|.	0.171581|.	0.51477|.	D|.	0.000094|.	T|T	0.14830|0.14830	0.0358|0.0358	N|N	0.03324|0.03324	-0.35|-0.35	0.33012|0.33012	D|D	0.527597|0.527597	B;B|.	0.24317|.	0.008;0.101|.	B;B|.	0.25614|.	0.023;0.062|.	T|T	0.18493|0.18493	-1.0335|-1.0335	10|5	0.11485|.	T|.	0.65|.	.|.	16.4352|16.4352	0.83873|0.83873	0.0:0.6948:0.3052:0.0|0.0:0.6948:0.3052:0.0	.|.	207;190|.	Q6ZW05;B0QZ29|.	CF138_HUMAN;.|.	K|E	207;190|206	ENSP00000341914:E207K;ENSP00000439864:E190K|.	ENSP00000341914:E207K|.	E|G	-|-	1|2	0|0	C6orf138|C6orf138	48084617|48084617	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.687000|2.687000	0.46976|0.46976	1.583000|1.583000	0.49898|0.49898	0.650000|0.650000	0.86243|0.86243	GAG|GGA		0.502	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		11	50	0	0	0	1	0	11	50				
ZNF347	84671	broad.mit.edu	37	19	53645521	53645521	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr19:53645521C>G	ENST00000334197.7	-	5	628	c.560G>C	c.(559-561)aGc>aCc	p.S187T	ZNF347_ENST00000452676.2_Missense_Mutation_p.S188T|ZNF347_ENST00000601469.2_Missense_Mutation_p.S188T|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	187					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TGACTGAAGGCTTAATCCAAG	0.368																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(562-564)aGc>aCc		zinc finger protein 347							143.0	131.0	135.0					19																	53645521		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53645521C>G	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.560G>C	19.37:g.53645521C>G	ENSP00000334146:p.Ser187Thr					ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.S188T|ZNF347_ENST00000334197.7_Missense_Mutation_p.S187T	p.S188T	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	989	-			187					B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.563G>C	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	C	5.131	0.209809	0.09757	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.07327	3.2;3.2	2.24	-0.489	0.12052	.	.	.	.	.	T	0.04227	0.0117	N	0.16656	0.425	0.09310	N	1	B;P	0.45827	0.02;0.867	B;B	0.40009	0.034;0.316	T	0.42172	-0.9467	9	0.18276	T	0.48	.	6.0042	0.19537	0.5491:0.4509:0.0:0.0	.	188;187	G5E9N4;Q96SE7	.;ZN347_HUMAN	T	187;188	ENSP00000334146:S187T;ENSP00000405218:S188T	ENSP00000334146:S187T	S	-	2	0	ZNF347	58337333	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.101000	0.10973	0.276000	0.22118	-0.310000	0.09108	AGC		0.368	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		15	132	0	0	0	1	0	15	132				
OR10J5	127385	broad.mit.edu	37	1	159505570	159505570	+	Silent	SNP	G	G	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:159505570G>C	ENST00000334857.2	-	1	272	c.228C>G	c.(226-228)gtC>gtG	p.V76V		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GTGGCACAATGACCAGTGTGT	0.433																																						ENST00000334857.2																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(226-228)gtC>gtG		olfactory receptor, family 10, subfamily J, member 5							171.0	137.0	149.0					1																	159505570		2203	4300	6503	SO:0001819	synonymous_variant	127385				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159505570G>C		CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"""GPCR / Class A : Olfactory receptors"""	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.228C>G	1.37:g.159505570G>C							p.V76V	NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN			1	272	-	all_hematologic(112;0.0429)		76					B9EH35|Q6IFH2	Silent	SNP	ENST00000334857.2	37	c.228C>G	CCDS30910.1																																																																																				0.433	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469		24	136	0	0	0	1	0	24	136				
GOLGA3	2802	broad.mit.edu	37	12	133389906	133389906	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr12:133389906C>T	ENST00000450791.2	-	3	689	c.506G>A	c.(505-507)cGc>cAc	p.R169H	GOLGA3_ENST00000204726.3_Missense_Mutation_p.R169H|GOLGA3_ENST00000456883.2_Missense_Mutation_p.R169H|GOLGA3_ENST00000545875.1_Missense_Mutation_p.R169H|GOLGA3_ENST00000537452.1_Missense_Mutation_p.R169H			Q08378	GOGA3_HUMAN	golgin A3	169					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CTCCTGCTGGCGCTTCACCCT	0.587																																						ENST00000204726.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(505-507)cGc>cAc		golgin A3							82.0	61.0	68.0					12																	133389906		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133389906C>T	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.506G>A	12.37:g.133389906C>T	ENSP00000410378:p.Arg169His					GOLGA3_ENST00000545875.1_Missense_Mutation_p.R169H|GOLGA3_ENST00000456883.2_Missense_Mutation_p.R169H|GOLGA3_ENST00000537452.1_Missense_Mutation_p.R169H|GOLGA3_ENST00000450791.2_Missense_Mutation_p.R169H	p.R169H	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	4	1064	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	169					A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.506G>A	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796851	0.90453	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	5.31	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.54319	0.1851	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.59316	-0.7477	10	0.87932	D	0	.	13.9992	0.64421	0.0:0.9271:0.0:0.0729	.	169;169;169	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	H	169	ENSP00000204726:R169H;ENSP00000410378:R169H;ENSP00000409303:R169H;ENSP00000442143:R169H;ENSP00000442603:R169H	ENSP00000204726:R169H	R	-	2	0	GOLGA3	131899979	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.336000	0.65935	1.238000	0.43771	0.462000	0.41574	CGC		0.587	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		6	24	0	0	0	1	0	6	24				
C9orf135	138255	broad.mit.edu	37	9	72501807	72501807	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr9:72501807C>A	ENST00000377197.3	+	5	590	c.503C>A	c.(502-504)cCa>cAa	p.P168Q	RN7SL570P_ENST00000484405.2_RNA|C9orf135_ENST00000466872.2_3'UTR|C9orf135_ENST00000527647.1_Intron	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	168						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						GATTATCAGCCACATGTGAGT	0.368																																						ENST00000377197.3																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						c.(502-504)cCa>cAa		chromosome 9 open reading frame 135							129.0	108.0	115.0					9																	72501807		2203	4299	6502	SO:0001583	missense	138255					integral to membrane		g.chr9:72501807C>A		CCDS35041.1	9q21.11	2013-06-07	2013-06-07	2013-06-07	ENSG00000204711	ENSG00000204711			31422	protein-coding gene	gene with protein product							Standard	XM_005251705		Approved		uc004ahl.3	Q5VTT2	OTTHUMG00000019985	ENST00000377197.3:c.503C>A	9.37:g.72501807C>A	ENSP00000366402:p.Pro168Gln					C9orf135_ENST00000466872.2_3'UTR|C9orf135_ENST00000527647.1_Intron	p.P168Q	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN			5	590	+			168					A7E2U4|B2RN61	Missense_Mutation	SNP	ENST00000377197.3	37	c.503C>A	CCDS35041.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.852883	0.32699	.	.	ENSG00000204711	ENST00000377197	.	.	.	4.9	2.93	0.34026	.	0.486110	0.19041	N	0.124286	T	0.45418	0.1341	L	0.59436	1.845	0.26869	N	0.967785	P	0.48016	0.904	P	0.51355	0.667	T	0.35624	-0.9781	9	0.72032	D	0.01	-6.5281	5.5809	0.17248	0.1949:0.7057:0.0:0.0995	.	168	Q5VTT2	CI135_HUMAN	Q	168	.	ENSP00000366402:P168Q	P	+	2	0	C9orf135	71691627	0.268000	0.24133	0.835000	0.33067	0.839000	0.47603	1.170000	0.31883	1.424000	0.47217	0.585000	0.79938	CCA		0.368	C9orf135-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052591.1	NM_001010940		11	58	1	0	1.58986e-06	1	1.75755e-06	11	58				
COLEC10	10584	broad.mit.edu	37	8	120103455	120103455	+	Silent	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr8:120103455G>A	ENST00000332843.2	+	3	329	c.288G>A	c.(286-288)aaG>aaA	p.K96K	COLEC10_ENST00000521788.1_3'UTR	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	96	Collagen-like.					collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			CCATTGGGAAGAAGGGTAAGT	0.438																																						ENST00000332843.2																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(286-288)aaG>aaA		collectin sub-family member 10 (C-type lectin)							133.0	126.0	128.0					8																	120103455		2203	4300	6503	SO:0001819	synonymous_variant	10584					collagen|cytoplasm	mannose binding	g.chr8:120103455G>A	AB002631	CCDS6327.1	8q23-q24.1	2007-12-19				ENSG00000184374		"""Collectins"""	2220	protein-coding gene	gene with protein product		607620				10224141	Standard	NM_006438		Approved	CL-L1	uc003yoo.3	Q9Y6Z7		ENST00000332843.2:c.288G>A	8.37:g.120103455G>A						COLEC10_ENST00000521788.1_3'UTR	p.K96K	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	STAD - Stomach adenocarcinoma(47;0.00113)		3	329	+	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		96			Collagen-like.		Q3SYH6|Q6UW19	Silent	SNP	ENST00000332843.2	37	c.288G>A	CCDS6327.1																																																																																				0.438	COLEC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381225.1			15	46	0	0	0	1	0	15	46				
DCLRE1A	9937	broad.mit.edu	37	10	115603908	115603908	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr10:115603908G>C	ENST00000361384.2	-	5	3391	c.2474C>G	c.(2473-2475)tCt>tGt	p.S825C	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.S825C	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	825					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		CGCAAGAAGAGAACGTTCCAT	0.453								Other identified genes with known or suspected DNA repair function																														ENST00000361384.2																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(2473-2475)tCt>tGt	Other identified genes with known or suspected DNA repair function	DNA cross-link repair 1A							151.0	130.0	137.0					10																	115603908		2203	4300	6503	SO:0001583	missense	9937				cell division|mitosis	nucleus	hydrolase activity	g.chr10:115603908G>C		CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.2474C>G	10.37:g.115603908G>C	ENSP00000355185:p.Ser825Cys					DCLRE1A_ENST00000369305.1_Missense_Mutation_p.S825C	p.S825C	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN		Epithelial(162;0.0157)|all cancers(201;0.0171)	5	3391	-			825					D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	ENST00000361384.2	37	c.2474C>G	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.483265	0.44147	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.76968	-1.06;-1.06	5.46	4.5	0.54988	Beta-lactamase-like (1);	0.116711	0.64402	D	0.000012	D	0.83367	0.5239	L	0.50333	1.59	0.32944	D	0.518766	D	0.61697	0.99	D	0.69142	0.962	D	0.86672	0.1911	10	0.59425	D	0.04	-19.8365	13.3963	0.60856	0.0:0.0:0.8432:0.1568	.	825	Q6PJP8	DCR1A_HUMAN	C	825	ENSP00000355185:S825C;ENSP00000358311:S825C	ENSP00000355185:S825C	S	-	2	0	DCLRE1A	115593898	1.000000	0.71417	0.970000	0.41538	0.374000	0.29953	6.310000	0.72830	2.563000	0.86464	0.555000	0.69702	TCT		0.453	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881		4	90	0	0	0	1	0	4	90				
STARD13	90627	broad.mit.edu	37	13	33716499	33716499	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr13:33716499G>A	ENST00000336934.5	-	4	451	c.335C>T	c.(334-336)aCg>aTg	p.T112M	STARD13_ENST00000255486.4_Missense_Mutation_p.T104M|STARD13_ENST00000487412.1_5'UTR|STARD13_ENST00000399365.3_De_novo_Start_InFrame	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	112	SAM.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CTTGTTCAACGTATTTAGTCG	0.358																																						ENST00000336934.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40						c.(334-336)aCg>aTg		StAR-related lipid transfer (START) domain containing 13							147.0	130.0	136.0					13																	33716499		2203	4300	6503	SO:0001583	missense	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33716499G>A	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.335C>T	13.37:g.33716499G>A	ENSP00000338785:p.Thr112Met					STARD13_ENST00000399365.3_De_novo_Start_InFrame|STARD13_ENST00000255486.4_Missense_Mutation_p.T104M|STARD13_ENST00000487412.1_5'UTR	p.T112M	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	4	451	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	112			SAM.		A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	ENST00000336934.5	37	c.335C>T	CCDS9348.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250120	0.80024	.	.	ENSG00000133121	ENST00000255486;ENST00000336934;ENST00000399364	D;D	0.84660	-1.88;-1.88	5.27	5.27	0.74061	Sterile alpha motif, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.93321	0.7871	M	0.85859	2.78	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.999	D	0.94042	0.7310	10	0.87932	D	0	.	18.8508	0.92227	0.0:0.0:1.0:0.0	.	104;77;112;104	Q9Y3M8-5;Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;.;STA13_HUMAN;.	M	104;112;104	ENSP00000255486:T104M;ENSP00000338785:T112M	ENSP00000255486:T104M	T	-	2	0	STARD13	32614499	1.000000	0.71417	0.748000	0.31131	0.968000	0.65278	7.757000	0.85209	2.626000	0.88956	0.650000	0.86243	ACG		0.358	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		13	107	0	0	0	1	0	13	107				
CROCCP2	84809	broad.mit.edu	37	1	16946376	16946376	+	lincRNA	SNP	G	G	A	rs12086176		TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:16946376G>A	ENST00000412962.1	-	0	1143				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GGAGGCCCTCGTCATGCTCCT	0.657																																						ENST00000412962.1																			0																																																			84809							g.chr1:16946376G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946376G>A														0	1143	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.657	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		6	32	0	0	0	1	0	6	32				
OR5D13	390142	broad.mit.edu	37	11	55540960	55540960	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:55540960T>C	ENST00000361760.1	+	1	47	c.47T>C	c.(46-48)cTc>cCc	p.L16P		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	16						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(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ACTTTTATTCTCTTGGGTTTT	0.383																																						ENST00000361760.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(46-48)cTc>cCc		olfactory receptor, family 5, subfamily D, member 13							105.0	107.0	106.0					11																	55540960		2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55540960T>C	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.47T>C	11.37:g.55540960T>C	ENSP00000354800:p.Leu16Pro						p.L16P	NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN			1	47	+		all_epithelial(135;0.196)	16					Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.47T>C	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	T	16.05	3.012390	0.54468	.	.	ENSG00000198877	ENST00000361760	T	0.00564	6.57	3.52	3.52	0.40303	.	0.331298	0.16801	U	0.198979	T	0.01489	0.0048	H	0.96547	3.84	0.54753	D	0.999982	P	0.45594	0.862	B	0.40375	0.327	T	0.36456	-0.9747	10	0.87932	D	0	-8.9227	11.3563	0.49617	0.0:0.0:0.0:1.0	.	16	Q8NGL4	OR5DD_HUMAN	P	16	ENSP00000354800:L16P	ENSP00000354800:L16P	L	+	2	0	OR5D13	55297536	0.922000	0.31269	0.007000	0.13788	0.040000	0.13550	6.232000	0.72313	1.626000	0.50381	0.398000	0.26397	CTC		0.383	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		6	222	0	0	0	1	0	6	222				
JOSD2	126119	broad.mit.edu	37	19	51009451	51009451	+	Silent	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr19:51009451G>A	ENST00000598418.1	-	5	799	c.546C>T	c.(544-546)ggC>ggT	p.G182G	JOSD2_ENST00000595669.1_Silent_p.G140G|JOSD2_ENST00000601423.1_Silent_p.G182G|JOSD2_ENST00000391815.3_Silent_p.G182G	NM_001270639.1|NM_001270640.1	NP_001257568.1|NP_001257569.1	Q8TAC2	JOS2_HUMAN	Josephin domain containing 2	182	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				protein deubiquitination (GO:0016579)	cytoplasm (GO:0005737)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|lung(3)|prostate(1)	5		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)		GCAGCCAGCTGCCCTTCTCCT	0.677																																						ENST00000598418.1																			0				kidney(1)|lung(3)|prostate(1)	5						c.(544-546)ggC>ggT		Josephin domain containing 2							68.0	57.0	61.0					19																	51009451		2203	4296	6499	SO:0001819	synonymous_variant	126119				protein deubiquitination		ubiquitin-specific protease activity	g.chr19:51009451G>A	AF247787	CCDS12797.1, CCDS59413.1	19q13.33	2008-02-05				ENSG00000161677			28853	protein-coding gene	gene with protein product		615324					Standard	NM_138334		Approved	SBBI54	uc031rmi.1	Q8TAC2		ENST00000598418.1:c.546C>T	19.37:g.51009451G>A						JOSD2_ENST00000595669.1_Silent_p.G140G|JOSD2_ENST00000391815.3_Silent_p.G182G|JOSD2_ENST00000601423.1_Silent_p.G182G	p.G182G	NM_001270639.1|NM_001270640.1	NP_001257568.1|NP_001257569.1	Q8TAC2	JOS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)	5	799	-		all_neural(266;0.131)	182			Josephin.		M0QX25	Silent	SNP	ENST00000598418.1	37	c.546C>T	CCDS12797.1																																																																																				0.677	JOSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464902.1	NM_138334		14	23	0	0	0	1	0	14	23				
HSPA1L	3305	broad.mit.edu	37	6	31777941	31777941	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr6:31777941C>G	ENST00000375654.4	-	2	1998	c.1809G>C	c.(1807-1809)caG>caC	p.Q603H	HSPA1L_ENST00000417199.3_Missense_Mutation_p.Q603H	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	603					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GGTTACACATCTGCTCCAATT	0.483																																						ENST00000375654.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1807-1809)caG>caC		heat shock 70kDa protein 1-like							136.0	122.0	127.0					6																	31777941		2203	4300	6503	SO:0001583	missense	3305				response to unfolded protein		ATP binding	g.chr6:31777941C>G	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.1809G>C	6.37:g.31777941C>G	ENSP00000364805:p.Gln603His					HSPA1L_ENST00000417199.3_Missense_Mutation_p.Q603H	p.Q603H	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN			2	1998	-			603					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	c.1809G>C	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.331209	0.24167	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653	T;T	0.14022	2.54;2.54	5.94	1.13	0.20643	.	1.128570	0.06990	N	0.821360	T	0.20659	0.0497	M	0.87971	2.92	0.23909	N	0.996494	P	0.41265	0.744	P	0.56398	0.797	T	0.21655	-1.0239	10	0.72032	D	0.01	-0.8781	6.0572	0.19819	0.1206:0.606:0.0:0.2734	.	603	P34931	HS71L_HUMAN	H	603;603;548	ENSP00000364805:Q603H;ENSP00000387691:Q603H	ENSP00000364804:Q548H	Q	-	3	2	HSPA1L	31885920	0.000000	0.05858	0.589000	0.28718	0.305000	0.27757	-0.549000	0.06041	0.126000	0.18424	0.591000	0.81541	CAG		0.483	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			31	117	0	0	0	1	0	31	117				
CSMD3	114788	broad.mit.edu	37	8	114448933	114448933	+	Missense_Mutation	SNP	A	A	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr8:114448933A>C	ENST00000297405.5	-	1	395	c.151T>G	c.(151-153)Ttt>Gtt	p.F51V	CSMD3_ENST00000352409.3_Missense_Mutation_p.F51V|CSMD3_ENST00000455883.2_Missense_Mutation_p.F51V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTCAATAAAAAGACGAGGTTC	0.507										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(151-153)Ttt>Gtt		CUB and Sushi multiple domains 3							200.0	205.0	203.0					8																	114448933		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:114448933A>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.151T>G	8.37:g.114448933A>C	ENSP00000297405:p.Phe51Val	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Missense_Mutation_p.F51V|CSMD3_ENST00000352409.3_Missense_Mutation_p.F51V	p.F51V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			1	395	-			51					Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.151T>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.674209	0.47781	.	.	ENSG00000164796	ENST00000297405;ENST00000455883;ENST00000352409	T;T;T	0.27557	1.96;1.66;1.94	5.82	5.82	0.92795	.	0.361525	0.20171	N	0.097725	T	0.32941	0.0846	N	0.08118	0	0.41948	D	0.990649	D;D;D;D	0.89917	0.981;0.999;1.0;0.967	D;D;D;D	0.85130	0.962;0.994;0.997;0.916	T	0.16158	-1.0412	10	0.09843	T	0.71	.	15.3509	0.74384	1.0:0.0:0.0:0.0	.	51;51;51;51	Q7Z407-3;Q7Z407-4;Q7Z407-5;Q7Z407	.;.;.;CSMD3_HUMAN	V	51	ENSP00000297405:F51V;ENSP00000412263:F51V;ENSP00000343124:F51V	ENSP00000297405:F51V	F	-	1	0	CSMD3	114518109	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.604000	0.90877	2.207000	0.71202	0.533000	0.62120	TTT		0.507	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		26	260	0	0	0	1	0	26	260				
NFIC	4782	broad.mit.edu	37	19	3452488	3452488	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr19:3452488C>T	ENST00000443272.2	+	8	1144	c.1093C>T	c.(1093-1095)Cgg>Tgg	p.R365W	NFIC_ENST00000395111.3_Missense_Mutation_p.R356W|NFIC_ENST00000341919.3_Missense_Mutation_p.R365W|NFIC_ENST00000590282.1_Missense_Mutation_p.R365W|NFIC_ENST00000346156.5_Missense_Mutation_p.R332W|NFIC_ENST00000589123.1_Missense_Mutation_p.R356W|NFIC_ENST00000586919.1_Missense_Mutation_p.R332W	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	365					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		AGGGATCGCCCGGAGCCCACA	0.647																																						ENST00000589123.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(1066-1068)Cgg>Tgg		nuclear factor I/C (CCAAT-binding transcription factor)							165.0	163.0	163.0					19																	3452488		2203	4300	6503	SO:0001583	missense	4782				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3452488C>T	X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.1093C>T	19.37:g.3452488C>T	ENSP00000396843:p.Arg365Trp					NFIC_ENST00000590282.1_Missense_Mutation_p.R365W|NFIC_ENST00000443272.2_Missense_Mutation_p.R365W|NFIC_ENST00000395111.3_Missense_Mutation_p.R356W|NFIC_ENST00000341919.3_Missense_Mutation_p.R365W|NFIC_ENST00000346156.5_Missense_Mutation_p.R332W|NFIC_ENST00000586919.1_Missense_Mutation_p.R332W	p.R356W	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)	8	1186	+		Hepatocellular(1079;0.137)	365					A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Missense_Mutation	SNP	ENST00000443272.2	37	c.1066C>T	CCDS59330.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379409	0.82682	.	.	ENSG00000141905	ENST00000443272;ENST00000395111;ENST00000346156;ENST00000341919;ENST00000343825;ENST00000269778	T;T;T	0.44083	0.93;0.93;0.93	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.60444	0.2269	L	0.58101	1.795	0.54753	D	0.999989	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.998;0.997;0.997;0.997	T	0.65240	-0.6216	10	0.72032	D	0.01	.	15.0657	0.71992	0.0:1.0:0.0:0.0	.	365;365;356;365;356	B7Z4U5;P08651;P08651-3;P08651-5;P08651-2	.;NFIC_HUMAN;.;.;.	W	356;356;332;365;365;365	ENSP00000378543:R356W;ENSP00000301935:R332W;ENSP00000342194:R365W	ENSP00000269778:R365W	R	+	1	2	NFIC	3403488	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	2.687000	0.46976	1.874000	0.54306	0.555000	0.69702	CGG		0.647	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452834.1	NM_005597		23	220	0	0	0	1	0	23	220				
GMPR	2766	broad.mit.edu	37	6	16247130	16247130	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr6:16247130C>T	ENST00000259727.4	+	2	259	c.145C>T	c.(145-147)Ccc>Tcc	p.P49S		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	49					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				CTCAGGGATTCCCATCATCGT	0.473																																						ENST00000259727.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20						c.(145-147)Ccc>Tcc		guanosine monophosphate reductase							140.0	128.0	132.0					6																	16247130		2203	4300	6503	SO:0001583	missense	2766				nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding	g.chr6:16247130C>T		CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	1.7.1.7		4376	protein-coding gene	gene with protein product		139265				2194676	Standard	NM_006877		Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.145C>T	6.37:g.16247130C>T	ENSP00000259727:p.Pro49Ser						p.P49S	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN			2	259	+	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	49					Q96HQ6	Missense_Mutation	SNP	ENST00000259727.4	37	c.145C>T	CCDS4537.1	.	.	.	.	.	.	.	.	.	.	C	34	5.379820	0.95945	.	.	ENSG00000137198	ENST00000259727	D	0.94650	-3.48	5.37	5.37	0.77165	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	D	0.98473	0.9491	H	0.99820	4.81	0.80722	D	1	D	0.65815	0.995	P	0.55345	0.774	D	0.99675	1.0997	10	0.87932	D	0	-3.0214	19.4857	0.95027	0.0:1.0:0.0:0.0	.	49	P36959	GMPR1_HUMAN	S	49	ENSP00000259727:P49S	ENSP00000259727:P49S	P	+	1	0	GMPR	16355109	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.361000	0.79497	2.677000	0.91161	0.561000	0.74099	CCC		0.473	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039942.2			17	95	0	0	0	1	0	17	95				
CLASP2	23122	broad.mit.edu	37	3	33648240	33648240	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr3:33648240C>G	ENST00000468888.2	-	16	1586	c.1540G>C	c.(1540-1542)Ggt>Cgt	p.G514R	CLASP2_ENST00000461133.3_Missense_Mutation_p.G280R|CLASP2_ENST00000399362.4_Missense_Mutation_p.G513R|CLASP2_ENST00000313350.6_Missense_Mutation_p.G286R|CLASP2_ENST00000487200.1_Missense_Mutation_p.G286R|CLASP2_ENST00000539981.1_Missense_Mutation_p.G265R|CLASP2_ENST00000333778.6_Missense_Mutation_p.G290R|CLASP2_ENST00000480013.1_Missense_Mutation_p.G280R|CLASP2_ENST00000359576.5_Missense_Mutation_p.G513R|CLASP2_ENST00000307312.7_Missense_Mutation_p.G2R			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	280	Interaction with microtubules, MAPRE1 and MAPRE3.|Ser-rich.				axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TTTCTAAGACCCATGTATGTC	0.343																																						ENST00000399362.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1537-1539)Ggt>Cgt		cytoplasmic linker associated protein 2							127.0	124.0	125.0					3																	33648240		1835	4075	5910	SO:0001583	missense	23122							g.chr3:33648240C>G	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.1540G>C	3.37:g.33648240C>G	ENSP00000419974:p.Gly514Arg					CLASP2_ENST00000307312.7_Missense_Mutation_p.G2R|CLASP2_ENST00000487200.1_Missense_Mutation_p.G286R|CLASP2_ENST00000461133.3_Missense_Mutation_p.G280R|CLASP2_ENST00000313350.6_Missense_Mutation_p.G286R|CLASP2_ENST00000468888.2_Missense_Mutation_p.G514R|CLASP2_ENST00000480013.1_Missense_Mutation_p.G280R|CLASP2_ENST00000333778.6_Missense_Mutation_p.G290R|CLASP2_ENST00000539981.1_Missense_Mutation_p.G265R|CLASP2_ENST00000359576.5_Missense_Mutation_p.G513R	p.G513R	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN			16	1890	-			514					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37	c.1537G>C		.	.	.	.	.	.	.	.	.	.	C	26.8	4.774061	0.90108	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133;ENST00000313350;ENST00000487200;ENST00000333778	T;T;T;T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05	5.05	5.05	0.67936	Armadillo-type fold (1);CLASP N-terminal domain (1);	0.000000	0.85682	D	0.000000	T	0.63117	0.2484	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D	0.89917	0.996;1.0;0.999;0.978;1.0	D;D;D;D;D	0.97110	0.988;0.988;0.998;0.923;1.0	T	0.66101	-0.6007	10	0.87932	D	0	-21.6498	18.7672	0.91878	0.0:1.0:0.0:0.0	.	290;280;286;286;513	E7ENG2;O75122;B3KR06;O75122-2;F5H604	.;CLAP2_HUMAN;.;.;.	R	514;513;513;2;265;280;280;286;286;290	ENSP00000419974:G514R;ENSP00000382297:G513R;ENSP00000352581:G513R;ENSP00000439039:G265R;ENSP00000417518:G280R;ENSP00000419305:G280R;ENSP00000324364:G286R;ENSP00000418939:G286R;ENSP00000327760:G290R	ENSP00000304743:G2R	G	-	1	0	CLASP2	33623244	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.499000	0.84300	0.655000	0.94253	GGT		0.343	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		7	94	0	0	0	1	0	7	94				
TTLL4	9654	broad.mit.edu	37	2	219602570	219602570	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:219602570G>T	ENST00000392102.1	+	3	511	c.171G>T	c.(169-171)aaG>aaT	p.K57N	TTLL4_ENST00000442769.1_Missense_Mutation_p.K57N|TTLL4_ENST00000258398.4_Missense_Mutation_p.K57N|TTLL4_ENST00000457313.1_Intron	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	57					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		AGCTGGAAAAGAAGCAAGTGG	0.582																																					GBM(172;1818 2053 15407 20943 49753)	ENST00000392102.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39						c.(169-171)aaG>aaT		tubulin tyrosine ligase-like family, member 4							87.0	91.0	90.0					2																	219602570		2203	4300	6503	SO:0001583	missense	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219602570G>T		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.171G>T	2.37:g.219602570G>T	ENSP00000375951:p.Lys57Asn					TTLL4_ENST00000457313.1_Intron|TTLL4_ENST00000442769.1_Missense_Mutation_p.K57N|TTLL4_ENST00000258398.4_Missense_Mutation_p.K57N	p.K57N	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	3	511	+		Renal(207;0.0915)	57					A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	c.171G>T	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.006552	0.35415	.	.	ENSG00000135912	ENST00000415717;ENST00000392102;ENST00000437755;ENST00000442769;ENST00000424644;ENST00000258398	T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93	5.34	4.47	0.54385	.	0.620629	0.15173	N	0.276501	T	0.21427	0.0516	L	0.29908	0.895	0.29708	N	0.839608	B;B	0.31318	0.319;0.319	B;B	0.32624	0.149;0.149	T	0.15065	-1.0450	10	0.87932	D	0	.	11.563	0.50788	0.0828:0.0:0.9172:0.0	.	57;57	E7EX20;Q14679	.;TTLL4_HUMAN	N	57	ENSP00000411228:K57N;ENSP00000375951:K57N;ENSP00000391342:K57N;ENSP00000396555:K57N;ENSP00000405485:K57N;ENSP00000258398:K57N	ENSP00000258398:K57N	K	+	3	2	TTLL4	219310814	0.960000	0.32886	0.992000	0.48379	0.825000	0.46686	1.728000	0.38105	1.250000	0.43966	0.563000	0.77884	AAG		0.582	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		7	87	1	0	2.0095e-06	1	2.20422e-06	7	87				
ATP2B3	492	broad.mit.edu	37	X	152823653	152823653	+	Silent	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chrX:152823653C>T	ENST00000349466.2	+	16	2843	c.2517C>T	c.(2515-2517)gtC>gtT	p.V839V	ATP2B3_ENST00000359149.3_Silent_p.V839V|ATP2B3_ENST00000263519.4_Silent_p.V839V|ATP2B3_ENST00000370186.1_Silent_p.V825V|ATP2B3_ENST00000370181.2_Silent_p.V825V|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000393842.1_Silent_p.V825V			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	839					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCAAGGCAGTCATGTGGGGCC	0.582																																						ENST00000370186.1																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(2473-2475)gtC>gtT		ATPase, Ca++ transporting, plasma membrane 3							254.0	158.0	191.0					X																	152823653		2203	4300	6503	SO:0001819	synonymous_variant	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152823653C>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.2517C>T	X.37:g.152823653C>T						ATP2B3_ENST00000370181.2_Silent_p.V825V|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000393842.1_Silent_p.V825V|ATP2B3_ENST00000359149.3_Silent_p.V839V|ATP2B3_ENST00000263519.4_Silent_p.V839V|ATP2B3_ENST00000349466.2_Silent_p.V839V	p.V825V			Q16720	AT2B3_HUMAN			15	2801	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		839					B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	ENST00000349466.2	37	c.2475C>T	CCDS35440.1																																																																																				0.582	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		17	130	0	0	0	1	0	17	130				
GLYR1	84656	broad.mit.edu	37	16	4871597	4871597	+	Splice_Site	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr16:4871597G>A	ENST00000321919.9	-	8	759	c.683C>T	c.(682-684)cCa>cTa	p.P228L	GLYR1_ENST00000591451.1_Splice_Site_p.P228L|GLYR1_ENST00000381983.3_Intron|GLYR1_ENST00000586901.1_5'Flank|GLYR1_ENST00000436648.5_Splice_Site_p.P147L	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	228					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						ACAGACAGCTGGCTAATGAAG	0.443																																						ENST00000321919.9																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						c.e8-1		glyoxylate reductase 1 homolog (Arabidopsis)							78.0	70.0	72.0					16																	4871597		2197	4300	6497	SO:0001630	splice_region_variant	84656				pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr16:4871597G>A	AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"""nuclear protein 60kDa"""	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.682-1C>T	16.37:g.4871597G>A						GLYR1_ENST00000381983.3_Intron|GLYR1_ENST00000436648.5_Splice_Site_p.P147_splice|GLYR1_ENST00000591451.1_Splice_Site_p.P228_splice	p.P228_splice	NM_032569.3	NP_115958.2	Q49A26	GLYR1_HUMAN			8	759	-			228					B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Splice_Site	SNP	ENST00000321919.9	37	c.681_splice	CCDS10524.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.054535	0.55218	.	.	ENSG00000140632	ENST00000321919;ENST00000436648	T;T	0.70045	-0.29;-0.45	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.61874	0.2382	N	0.19112	0.55	0.80722	D	1	B;B;P	0.51791	0.015;0.119;0.948	B;B;P	0.48654	0.019;0.087;0.585	T	0.64428	-0.6410	10	0.48119	T	0.1	-9.7335	18.5627	0.91107	0.0:0.0:1.0:0.0	.	147;228;228	Q49A26-5;Q49A26-3;Q49A26	.;.;GLYR1_HUMAN	L	228;147	ENSP00000322716:P228L;ENSP00000390276:P147L	ENSP00000322716:P228L	P	-	2	0	GLYR1	4811598	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	7.278000	0.78587	2.765000	0.95021	0.591000	0.81541	CCA		0.443	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251717.2	NM_032569	Missense_Mutation	11	95	0	0	0	1	0	11	95				
CMYA5	202333	broad.mit.edu	37	5	79048590	79048590	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr5:79048590A>G	ENST00000446378.2	+	6	11114	c.11083A>G	c.(11083-11085)Agt>Ggt	p.S3695G		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3695					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.S3695R(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTCGGCAAGAAGTGACCAGAT	0.383																																						ENST00000446378.2																			2	Substitution - Missense(2)	p.S3695R(2)	prostate(2)	NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(11083-11085)Agt>Ggt		cardiomyopathy associated 5							85.0	80.0	81.0					5																	79048590		1828	4081	5909	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79048590A>G	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.11083A>G	5.37:g.79048590A>G	ENSP00000394770:p.Ser3695Gly						p.S3695G	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	6	11114	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	3695					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.11083A>G	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	A	14.08	2.429482	0.43122	.	.	ENSG00000164309	ENST00000446378	T	0.39592	1.07	6.16	4.98	0.66077	.	0.092240	0.48286	N	0.000182	T	0.26702	0.0653	N	0.14661	0.345	0.34167	D	0.669335	B	0.26445	0.149	B	0.29716	0.106	T	0.33317	-0.9873	10	0.45353	T	0.12	.	8.5115	0.33220	0.7914:0.0:0.2086:0.0	.	3695	Q8N3K9	CMYA5_HUMAN	G	3695	ENSP00000394770:S3695G	ENSP00000394770:S3695G	S	+	1	0	CMYA5	79084346	0.667000	0.27484	0.950000	0.38849	0.932000	0.56968	0.905000	0.28504	1.108000	0.41662	0.528000	0.53228	AGT		0.383	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		13	66	0	0	0	1	0	13	66				
CPZ	8532	broad.mit.edu	37	4	8608483	8608483	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr4:8608483G>T	ENST00000360986.4	+	6	1100	c.926G>T	c.(925-927)tGg>tTg	p.W309L	CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.W298L|CPZ_ENST00000382480.2_Missense_Mutation_p.W172L	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	309					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TACAACGGGTGGACGAGCGGG	0.657																																						ENST00000382480.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(514-516)tGg>tTg		carboxypeptidase Z							68.0	69.0	69.0					4																	8608483		2203	4300	6503	SO:0001583	missense	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8608483G>T	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.926G>T	4.37:g.8608483G>T	ENSP00000354255:p.Trp309Leu					CPZ_ENST00000360986.4_Missense_Mutation_p.W309L|CPZ_ENST00000315782.6_Missense_Mutation_p.W298L|CPZ_ENST00000429646.2_5'UTR	p.W172L	NM_001014448.2	NP_001014448.1	Q66K79	CBPZ_HUMAN			6	1315	+			309					O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	c.515G>T	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	g	12.89	2.074214	0.36566	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782	T;T;T	0.21031	2.03;2.03;2.03	3.31	3.31	0.37934	Peptidase M14, carboxypeptidase A (2);	0.519689	0.21165	N	0.079099	T	0.23926	0.0579	M	0.64080	1.96	0.80722	D	1	B;B	0.16802	0.003;0.019	B;B	0.16289	0.009;0.015	T	0.15206	-1.0445	10	0.87932	D	0	-5.7026	12.9837	0.58579	0.0:0.0:1.0:0.0	.	298;309	Q66K79-2;Q66K79	.;CBPZ_HUMAN	L	309;172;298	ENSP00000354255:W309L;ENSP00000371920:W172L;ENSP00000315074:W298L	ENSP00000315074:W298L	W	+	2	0	CPZ	8659383	1.000000	0.71417	0.998000	0.56505	0.568000	0.35870	5.252000	0.65445	1.672000	0.50884	0.450000	0.29827	TGG		0.657	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		8	59	1	0	0.0581538	1	0.0587768	8	59				
DRAM2	128338	broad.mit.edu	37	1	111662502	111662502	+	Missense_Mutation	SNP	G	G	T	rs78046136		TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:111662502G>T	ENST00000286692.4	-	7	1214	c.597C>A	c.(595-597)gaC>gaA	p.D199E	DRAM2_ENST00000484310.1_5'UTR|DRAM2_ENST00000539140.1_Missense_Mutation_p.D199E			Q6UX65	DRAM2_HUMAN	DNA-damage regulated autophagy modulator 2	199					apoptotic process (GO:0006915)|regulation of autophagy (GO:0010506)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|microtubule cytoskeleton (GO:0015630)				endometrium(1)|large_intestine(5)|lung(3)	9						TTCTTACTTTGTCCTCGGGGT	0.333																																						ENST00000286692.4																			0				endometrium(1)|large_intestine(5)|lung(3)	9						c.(595-597)gaC>gaA		DNA-damage regulated autophagy modulator 2							75.0	75.0	75.0					1																	111662502		2203	4300	6503	SO:0001583	missense	128338				apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane		g.chr1:111662502G>T	AY336747	CCDS30801.1	1p13.3	2010-07-08	2009-06-12	2009-06-12	ENSG00000156171	ENSG00000156171			28769	protein-coding gene	gene with protein product		613360	"""transmembrane protein 77"""	TMEM77		12975309	Standard	NM_178454		Approved	MGC54289, PRO180, WWFQ154, RP5-1180E21.1	uc001ead.4	Q6UX65	OTTHUMG00000011911	ENST00000286692.4:c.597C>A	1.37:g.111662502G>T	ENSP00000286692:p.Asp199Glu					DRAM2_ENST00000484310.1_5'UTR|DRAM2_ENST00000539140.1_Missense_Mutation_p.D199E	p.D199E			Q6UX65	DRAM2_HUMAN			7	1214	-			199					B3SUG9|Q4VWF6|Q86VD3|Q8NBQ4	Missense_Mutation	SNP	ENST00000286692.4	37	c.597C>A	CCDS30801.1	.	.	.	.	.	.	.	.	.	.	G	3.313	-0.140395	0.06669	.	.	ENSG00000156171	ENST00000286692;ENST00000539140	T;T	0.81415	-1.49;-1.49	5.87	0.763	0.18459	.	0.264396	0.43260	N	0.000596	T	0.30510	0.0767	N	0.13198	0.31	0.36176	D	0.849096	B	0.02656	0.0	B	0.06405	0.002	T	0.22487	-1.0215	10	0.05721	T	0.95	-33.0572	1.94	0.03345	0.2274:0.136:0.496:0.1406	.	199	Q6UX65	DRAM2_HUMAN	E	199	ENSP00000286692:D199E;ENSP00000437718:D199E	ENSP00000286692:D199E	D	-	3	2	DRAM2	111464025	0.947000	0.32204	0.996000	0.52242	0.928000	0.56348	-0.183000	0.09712	-0.030000	0.13804	-0.140000	0.14226	GAC		0.333	DRAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032930.3	NM_178454		6	63	1	0	0.00116845	1	0.0012247	6	63				
COL6A1	1291	broad.mit.edu	37	21	47423881	47423881	+	Missense_Mutation	SNP	G	G	A	rs369764291		TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr21:47423881G>A	ENST00000361866.3	+	35	3155	c.3041G>A	c.(3040-3042)cGc>cAc	p.R1014H	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	1014	C-terminal globular domain.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		GCCCTGCTCCGCGGTGTCTTC	0.677																																						ENST00000361866.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(3040-3042)cGc>cAc		collagen, type VI, alpha 1	Palifermin(DB00039)	G	HIS/ARG	0,4406		0,0,2203	57.0	59.0	58.0		3041	2.7	0.0	21		58	1,8597		0,1,4298	no	missense	COL6A1	NM_001848.2	29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1014/1029	47423881	1,13003	2203	4299	6502	SO:0001583	missense	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47423881G>A	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.3041G>A	21.37:g.47423881G>A	ENSP00000355180:p.Arg1014His					COL6A1_ENST00000498614.1_3'UTR	p.R1014H	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	35	3155	+	all_hematologic(128;0.24)		1014			C-terminal globular domain.|VWFA 3.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	ENST00000361866.3	37	c.3041G>A	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389186	0.42410	0.0	1.16E-4	ENSG00000142156	ENST00000361866	D	0.91068	-2.78	4.83	2.71	0.32032	von Willebrand factor, type A (1);	0.304699	0.31257	N	0.007971	D	0.86272	0.5893	L	0.40543	1.245	0.09310	N	0.999999	P	0.52061	0.95	P	0.46389	0.515	T	0.78280	-0.2265	10	0.46703	T	0.11	-6.8437	8.0185	0.30395	0.3157:0.0:0.6843:0.0	.	1014	P12109	CO6A1_HUMAN	H	1014	ENSP00000355180:R1014H	ENSP00000355180:R1014H	R	+	2	0	COL6A1	46248309	0.000000	0.05858	0.006000	0.13384	0.372000	0.29890	0.211000	0.17474	1.036000	0.39998	0.596000	0.82720	CGC		0.677	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		6	86	0	0	0	1	0	6	86				
OGT	8473	broad.mit.edu	37	X	70775082	70775082	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chrX:70775082T>G	ENST00000373719.3	+	7	988	c.771T>G	c.(769-771)aaT>aaG	p.N257K	OGT_ENST00000373701.3_Missense_Mutation_p.N247K	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	257					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TGAGTCCAAATCACGCAGTGG	0.483																																						ENST00000373719.3																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(769-771)aaT>aaG		O-linked N-acetylglucosamine (GlcNAc) transferase							110.0	82.0	92.0					X																	70775082		2203	4300	6503	SO:0001583	missense	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70775082T>G	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.771T>G	X.37:g.70775082T>G	ENSP00000362824:p.Asn257Lys					OGT_ENST00000373701.3_Missense_Mutation_p.N247K	p.N257K	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN			7	988	+	Renal(35;0.156)		257					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	c.771T>G	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	T	16.83	3.231280	0.58777	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.65549	-0.16;-0.16	5.05	3.89	0.44902	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.69620	0.3131	L	0.50333	1.59	0.80722	D	1	D;P;D	0.76494	0.999;0.896;0.979	D;P;D	0.91635	0.999;0.683;0.946	T	0.65755	-0.6091	10	0.35671	T	0.21	-19.2091	7.9365	0.29933	0.0:0.2366:0.0:0.7634	.	131;247;257	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	K	257;247	ENSP00000362824:N257K;ENSP00000362805:N247K	ENSP00000362805:N247K	N	+	3	2	OGT	70691807	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	0.861000	0.27885	0.755000	0.32990	0.486000	0.48141	AAT		0.483	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		14	58	0	0	0	1	0	14	58				
MEGF8	1954	broad.mit.edu	37	19	42866710	42866710	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr19:42866710G>T	ENST00000251268.6	+	34	6019	c.6019G>T	c.(6019-6021)Gag>Tag	p.E2007*	MEGF8_ENST00000334370.4_Nonsense_Mutation_p.E1940*	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2007					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GTGCACGCGGGAGGGCAAGTG	0.632																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(5818-5820)Gag>Tag		multiple EGF-like-domains 8							80.0	77.0	78.0					19																	42866710		2203	4300	6503	SO:0001587	stop_gained	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42866710G>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.6019G>T	19.37:g.42866710G>T	ENSP00000251268:p.Glu2007*					MEGF8_ENST00000251268.6_Nonsense_Mutation_p.E2007*	p.E1940*	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			33	6453	+		Prostate(69;0.00682)	2007			PSI 5.		A8KAY0|O75097	Nonsense_Mutation	SNP	ENST00000251268.6	37	c.5818G>T		.	.	.	.	.	.	.	.	.	.	G	49	15.044180	0.99820	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	.	.	.	5.17	5.17	0.71159	.	0.313045	0.28371	N	0.015595	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-22.7961	11.2297	0.48905	0.0:0.0:0.7047:0.2953	.	.	.	.	X	1940;2007	.	ENSP00000251268:E2007X	E	+	1	0	MEGF8	47558550	1.000000	0.71417	0.968000	0.41197	0.332000	0.28634	3.920000	0.56446	2.421000	0.82119	0.563000	0.77884	GAG		0.632	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		14	139	1	0	2.35188e-11	1	2.69467e-11	14	139				
C2	717	broad.mit.edu	37	6	31905149	31905149	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr6:31905149C>G	ENST00000299367.5	+	8	1318	c.1042C>G	c.(1042-1044)Ctc>Gtc	p.L348V	CFB_ENST00000456570.1_Missense_Mutation_p.L195V|C2_ENST00000452323.2_Missense_Mutation_p.L134V|C2_ENST00000442278.2_Missense_Mutation_p.L216V|C2_ENST00000469372.1_Missense_Mutation_p.L102V|CFB_ENST00000477310.1_Missense_Mutation_p.L166V|CFB_ENST00000556679.1_Missense_Mutation_p.L195V	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	348	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		CAGTGTCTATCTCATGATGAA	0.473																																						ENST00000456570.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(583-585)Ctc>Gtc		complement factor B							205.0	200.0	202.0					6																	31905149		1511	2709	4220	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31905149C>G		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.1042C>G	6.37:g.31905149C>G	ENSP00000299367:p.Leu348Val					C2_ENST00000299367.5_Missense_Mutation_p.L348V|C2_ENST00000442278.2_Missense_Mutation_p.L216V|CFB_ENST00000477310.1_Missense_Mutation_p.L166V|CFB_ENST00000556679.1_Missense_Mutation_p.L195V|C2_ENST00000469372.1_Missense_Mutation_p.L102V|C2_ENST00000452323.2_Missense_Mutation_p.L134V	p.L195V			P00751	CFAB_HUMAN			5	638	+			364			Sushi 3.		B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	c.583C>G	CCDS4728.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.845|0.845	-0.740645|-0.740645	0.03088|0.03088	.|.	.|.	ENSG00000166278|ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000383177|ENST00000469372;ENST00000497706;ENST00000432397;ENST00000452323;ENST00000299367;ENST00000375493;ENST00000442278;ENST00000556679;ENST00000456570;ENST00000477310	.|T;T;T;T;T;T;T;T	.|0.77750	.|-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	4.97|4.97	-1.99|-1.99	0.07457|0.07457	.|von Willebrand factor, type A (3);	.|1.421560	.|0.04909	.|N	.|0.452868	T|T	0.43787|0.43787	0.1263|0.1263	L|L	0.43152|0.43152	1.355|1.355	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B;B;B	.|0.20052	.|0.001;0.006;0.041;0.006;0.002;0.002;0.0;0.024	.|B;B;B;B;B;B;B;B	.|0.19391	.|0.003;0.01;0.014;0.025;0.015;0.015;0.011;0.014	T|T	0.12066|0.12066	-1.0562|-1.0562	5|10	.|0.30078	.|T	.|0.28	-6.564|-6.564	1.3386|1.3386	0.02150|0.02150	0.3881:0.273:0.0882:0.2507|0.3881:0.273:0.0882:0.2507	.|.	.|195;319;134;102;216;216;348;135	.|B4E1Z4;B4DV48;B4DPF3;B4DQI1;E9PFN7;B4DV20;P06681;E9PDZ0	.|.;.;.;.;.;.;CO2_HUMAN;.	M|V	121|102;135;135;134;348;33;216;195;195;166	.|ENSP00000418923:L102V;ENSP00000417482:L135V;ENSP00000392322:L134V;ENSP00000299367:L348V;ENSP00000395683:L216V;ENSP00000451848:L195V;ENSP00000410815:L195V;ENSP00000418996:L166V	.|ENSP00000299367:L348V	I|L	+|+	3|1	3|0	C2|CFB;C2;XXbac-BPG116M5.17	32013128|32013128	0.000000|0.000000	0.05858|0.05858	0.167000|0.167000	0.22817|0.22817	0.138000|0.138000	0.21146|0.21146	-0.494000|-0.494000	0.06451|0.06451	-0.202000|-0.202000	0.10268|0.10268	-0.512000|-0.512000	0.04463|0.04463	ATC|CTC		0.473	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			11	155	0	0	0	1	0	11	155				
KIF3C	3797	broad.mit.edu	37	2	26204762	26204762	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:26204762C>G	ENST00000264712.3	-	1	604	c.25G>C	c.(25-27)Gag>Cag	p.E9Q	KIF3C_ENST00000405914.1_Missense_Mutation_p.E9Q	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	9					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGAGGGCCTCGCTGGCCTTG	0.667																																						ENST00000264712.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(25-27)Gag>Cag		kinesin family member 3C							39.0	40.0	40.0					2																	26204762		2203	4300	6503	SO:0001583	missense	3797				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:26204762C>G		CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"""Kinesins"""	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.25G>C	2.37:g.26204762C>G	ENSP00000264712:p.Glu9Gln					KIF3C_ENST00000405914.1_Missense_Mutation_p.E9Q	p.E9Q	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN			1	604	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		9			Kinesin-motor.		O43544|Q4ZG18|Q53SX5|Q562F7	Missense_Mutation	SNP	ENST00000264712.3	37	c.25G>C	CCDS1719.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.368501	0.82463	.	.	ENSG00000084731	ENST00000264712;ENST00000405914	T;T	0.45276	0.9;0.9	5.76	5.76	0.90799	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	T	0.61899	0.2384	M	0.64676	1.99	0.80722	D	1	D;D	0.71674	0.998;0.99	D;P	0.65684	0.937;0.908	T	0.62506	-0.6840	10	0.66056	D	0.02	.	17.471	0.87646	0.0:1.0:0.0:0.0	.	9;9	B7ZM25;O14782	.;KIF3C_HUMAN	Q	9	ENSP00000264712:E9Q;ENSP00000385030:E9Q	ENSP00000264712:E9Q	E	-	1	0	KIF3C	26058266	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.940000	0.70187	2.724000	0.93272	0.563000	0.77884	GAG		0.667	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1			6	64	0	0	0	1	0	6	64				
CNTNAP4	85445	broad.mit.edu	37	16	76482036	76482036	+	Silent	SNP	C	C	G			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr16:76482036C>G	ENST00000476707.1	+	4	814	c.675C>G	c.(673-675)ctC>ctG	p.L225L	CNTNAP4_ENST00000377504.4_Silent_p.L221L|CNTNAP4_ENST00000478060.1_Silent_p.L197L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Silent_p.L221L			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	222	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GGATTCTACTCCACAGGGAAG	0.378																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(661-663)ctC>ctG		contactin associated protein-like 4							86.0	88.0	87.0					16																	76482036		2198	4300	6498	SO:0001819	synonymous_variant	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76482036C>G	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.675C>G	16.37:g.76482036C>G						CNTNAP4_ENST00000478060.1_Silent_p.L197L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Silent_p.L221L|CNTNAP4_ENST00000476707.1_Silent_p.L225L	p.L221L	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			6	1048	+			222			Laminin G-like 1.		E9PFZ6|Q86YZ7	Silent	SNP	ENST00000476707.1	37	c.663C>G																																																																																					0.378	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		9	61	0	0	0	1	0	9	61				
ZNF85	7639	broad.mit.edu	37	19	21131726	21131726	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr19:21131726C>G	ENST00000328178.8	+	4	519	c.406C>G	c.(406-408)Caa>Gaa	p.Q136E	ZNF85_ENST00000345030.6_Missense_Mutation_p.Q103E|ZNF85_ENST00000601023.1_Missense_Mutation_p.Q77E	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	136					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						TGGACTTAACCAATGTCTCAC	0.328																																						ENST00000601023.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						c.(229-231)Caa>Gaa		zinc finger protein 85							67.0	70.0	69.0					19																	21131726		2203	4300	6503	SO:0001583	missense	7639					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:21131726C>G	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.406C>G	19.37:g.21131726C>G	ENSP00000329793:p.Gln136Glu					ZNF85_ENST00000345030.6_Missense_Mutation_p.Q103E|ZNF85_ENST00000328178.8_Missense_Mutation_p.Q136E	p.Q77E			Q03923	ZNF85_HUMAN			2	875	+			136					B9ZVP4|Q6NVI0	Missense_Mutation	SNP	ENST00000328178.8	37	c.229C>G	CCDS32977.1	.	.	.	.	.	.	.	.	.	.	.	6.559	0.471395	0.12461	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.05447	3.53;3.44	1.23	-0.393	0.12438	.	.	.	.	.	T	0.12603	0.0306	M	0.83852	2.665	0.09310	N	0.999999	P;B;P	0.41393	0.748;0.007;0.485	P;B;B	0.46299	0.511;0.003;0.219	T	0.15065	-1.0450	9	0.54805	T	0.06	.	4.6174	0.12433	0.571:0.429:0.0:0.0	.	103;77;136	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	E	136;103;11	ENSP00000329793:Q136E;ENSP00000342340:Q103E	ENSP00000329793:Q136E	Q	+	1	0	ZNF85	20923566	0.000000	0.05858	0.011000	0.14972	0.014000	0.08584	0.072000	0.14617	0.627000	0.30340	0.455000	0.32223	CAA		0.328	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		4	112	0	0	0	1	0	4	112				
YY2	404281	broad.mit.edu	37	X	21874755	21874755	+	Silent	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chrX:21874755C>T	ENST00000429584.2	+	1	651	c.153C>T	c.(151-153)taC>taT	p.Y51Y	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	51	Mediates transcriptional activation.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						ATTGGATCTACGGTGGCCACA	0.537																																						ENST00000429584.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						c.(151-153)taC>taT		YY2 transcription factor							111.0	92.0	98.0					X																	21874755		2203	4300	6503	SO:0001819	synonymous_variant	404281				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	g.chrX:21874755C>T	AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"""Zinc fingers, C2H2-type"""	31684	protein-coding gene	gene with protein product	"""transcription factor yin yang 2"""	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.153C>T	X.37:g.21874755C>T						MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000465888.1_3'UTR	p.Y51Y	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN			1	651	+			51			Mediates transcriptional activation.		B2RP10|Q6Q1S4	Silent	SNP	ENST00000429584.2	37	c.153C>T	CCDS14202.1																																																																																				0.537	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056025.1	NM_206923		4	121	0	0	0	1	0	4	121				
GPR160	26996	broad.mit.edu	37	3	169801763	169801763	+	Start_Codon_SNP	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr3:169801763G>A	ENST00000355897.5	+	4	611	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	1						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			CTAAAAATATGACTGCTCTCT	0.358																																						ENST00000355897.5																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8						c.(1-3)atG>atA		G protein-coupled receptor 160							47.0	49.0	48.0					3																	169801763		2196	4294	6490	SO:0001582	initiator_codon_variant	26996					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:169801763G>A	AB083583	CCDS3211.1	3q26.2-q27	2012-08-21			ENSG00000173890	ENSG00000173890		"""GPCR / Class A : Orphans"""	23693	protein-coding gene	gene with protein product						12044878	Standard	NM_014373		Approved	GPCR150, GPCR1	uc003fgi.3	Q9UJ42	OTTHUMG00000158776	ENST00000355897.5:c.3G>A	3.37:g.169801763G>A	ENSP00000348161:p.Met1Ile						p.M1I	NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		4	611	+	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		1					D3DNQ2	Translation_Start_Site	SNP	ENST00000355897.5	37	c.3G>A	CCDS3211.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733898	0.48939	.	.	ENSG00000173890	ENST00000355897;ENST00000492492;ENST00000485735;ENST00000482710;ENST00000473675	.	.	.	5.4	4.51	0.55191	.	0.144353	0.47455	D	0.000237	T	0.52869	0.1761	.	.	.	0.80722	D	1	P	0.42908	0.793	B	0.40940	0.344	T	0.60627	-0.7226	8	0.87932	D	0	-17.8374	12.8214	0.57696	0.0775:0.0:0.9225:0.0	.	1	Q9UJ42	GP160_HUMAN	I	1	.	ENSP00000348161:M1I	M	+	3	0	GPR160	171284457	1.000000	0.71417	1.000000	0.80357	0.216000	0.24613	4.441000	0.59981	2.518000	0.84900	0.585000	0.79938	ATG		0.358	GPR160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352167.1	NM_014373	Missense_Mutation	5	115	0	0	0	1	0	5	115				
SGK223	157285	broad.mit.edu	37	8	8239028	8239028	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr8:8239028G>A	ENST00000520004.1	-	2	494	c.230C>T	c.(229-231)tCa>tTa	p.S77L	SGK223_ENST00000330777.4_Missense_Mutation_p.S77L			Q86YV5	SG223_HUMAN		77							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GGAGTAAGGTGAGCTGTTCAC	0.647																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			0											c.(229-231)tCa>tTa									85.0	84.0	85.0					8																	8239028		2049	4203	6252	SO:0001583	missense	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8239028G>A																												ENST00000520004.1:c.230C>T	8.37:g.8239028G>A	ENSP00000428054:p.Ser77Leu					SGK223_ENST00000330777.4_Missense_Mutation_p.S77L	p.S77L			Q86YV5	SG223_HUMAN			2	494	-			77					Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.230C>T	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232420	0.39498	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.57752	0.38;0.38	4.49	2.55	0.30701	.	0.410890	0.19780	N	0.106252	T	0.36026	0.0952	L	0.28115	0.83	0.27859	N	0.940477	B	0.11235	0.004	B	0.11329	0.006	T	0.22277	-1.0221	10	0.40728	T	0.16	.	7.9688	0.30115	0.2197:0.0:0.7803:0.0	.	77	Q86YV5	SG223_HUMAN	L	77	ENSP00000330930:S77L;ENSP00000428054:S77L	ENSP00000330930:S77L	S	-	2	0	AC068353.1	8276438	0.996000	0.38824	0.461000	0.27105	0.961000	0.63080	2.463000	0.45058	0.539000	0.28788	0.558000	0.71614	TCA		0.647	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			13	64	0	0	0	1	0	13	64				
RHOXF1	158800	broad.mit.edu	37	X	119249485	119249485	+	Silent	SNP	C	C	T	rs372797512		TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chrX:119249485C>T	ENST00000217999.2	-	1	362	c.288G>A	c.(286-288)ccG>ccA	p.P96P	RP4-755D9.1_ENST00000553843.1_RNA|GS1-421I3.4_ENST00000422226.1_lincRNA	NM_139282.1	NP_644811.1	Q8NHV9	RHXF1_HUMAN	Rhox homeobox family, member 1	96					gamete generation (GO:0007276)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|sexual reproduction (GO:0019953)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						TCTCGGGCTGCGGACCCTCCA	0.662																																						ENST00000217999.2																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						c.(286-288)ccG>ccA		Rhox homeobox family, member 1				0,3833		0,0,0,1632,569	50.0	47.0	48.0		288	-2.4	0.0	X		48	1,6724		0,0,1,2428,1868	no	coding-synonymous	RHOXF1	NM_139282.1		0,0,1,4060,2437	TT,TC,T,CC,C		0.0149,0.0,0.0095		96/185	119249485	1,10557	2201	4297	6498	SO:0001819	synonymous_variant	158800				gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:119249485C>T		CCDS14593.1	Xq24	2011-06-20			ENSG00000101883	ENSG00000101883		"""Homeoboxes / PRD class"""	29993	protein-coding gene	gene with protein product		300446				11980563, 12490318	Standard	NM_139282		Approved	OTEX, PEPP1	uc004esk.2	Q8NHV9	OTTHUMG00000022290	ENST00000217999.2:c.288G>A	X.37:g.119249485C>T						RP4-755D9.1_ENST00000553843.1_RNA	p.P96P	NM_139282.1	NP_644811.1	Q8NHV9	RHXF1_HUMAN			1	362	-			96					O95030|Q3SYE0	Silent	SNP	ENST00000217999.2	37	c.288G>A	CCDS14593.1																																																																																				0.662	RHOXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058083.2	NM_139282		4	96	0	0	0	1	0	4	96				
PDE11A	50940	broad.mit.edu	37	2	178681637	178681637	+	Silent	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:178681637G>A	ENST00000286063.6	-	9	1973	c.1656C>T	c.(1654-1656)atC>atT	p.I552I	PDE11A_ENST00000449286.2_Silent_p.I194I|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Silent_p.I194I|PDE11A_ENST00000358450.4_Silent_p.I302I|PDE11A_ENST00000389683.3_Silent_p.I108I	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	552	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)	p.I552I(1)|p.I302I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	GTCCACAAAAGATGACAAAAG	0.423									Primary Pigmented Nodular Adrenocortical Disease, Familial																													ENST00000286063.5																			2	Substitution - coding silent(2)	p.I552I(1)|p.I302I(1)	large_intestine(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58						c.(1654-1656)atC>atT		phosphodiesterase 11A							106.0	98.0	101.0					2																	178681637		2203	4300	6503	SO:0001819	synonymous_variant	50940	Primary Pigmented Nodular Adrenocortical Disease, Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178681637G>A	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1656C>T	2.37:g.178681637G>A						PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000449286.2_Silent_p.I194I|PDE11A_ENST00000409504.1_Silent_p.I194I|PDE11A_ENST00000358450.4_Silent_p.I302I|PDE11A_ENST00000389683.3_Silent_p.I108I	p.I552I	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		9	1973	-			552			GAF 2.		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Silent	SNP	ENST00000286063.6	37	c.1656C>T	CCDS33334.1																																																																																				0.423	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			7	74	0	0	0	1	0	7	74				
ULK2	9706	broad.mit.edu	37	17	19683938	19683938	+	Silent	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr17:19683938G>A	ENST00000395544.4	-	25	3262	c.2763C>T	c.(2761-2763)gtC>gtT	p.V921V	ULK2_ENST00000361658.2_Silent_p.V921V	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	921	CTD-like region.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TCAGATTCTTGACAACTGAAA	0.338																																						ENST00000395544.4																			0				large_intestine(1)|skin(4)|stomach(1)	6						c.(2761-2763)gtC>gtT		unc-51 like autophagy activating kinase 2							46.0	41.0	43.0					17																	19683938		2201	4299	6500	SO:0001819	synonymous_variant	9706				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:19683938G>A	AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"""unc-51 (C. elegans)-like kinase 2"", ""unc-51-like kinase 2 (C. elegans)"""			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.2763C>T	17.37:g.19683938G>A						ULK2_ENST00000361658.2_Silent_p.V921V	p.V921V	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN			25	3262	-	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)		921					A8MY69|O75119	Silent	SNP	ENST00000395544.4	37	c.2763C>T	CCDS11213.1																																																																																				0.338	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132375.2	NM_014683		5	47	0	0	0	1	0	5	47				
CSMD3	114788	broad.mit.edu	37	8	113358346	113358346	+	Missense_Mutation	SNP	A	A	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr8:113358346A>C	ENST00000297405.5	-	41	6666	c.6422T>G	c.(6421-6423)aTa>aGa	p.I2141R	CSMD3_ENST00000343508.3_Missense_Mutation_p.I2101R|CSMD3_ENST00000352409.3_Missense_Mutation_p.I2071R|CSMD3_ENST00000455883.2_Missense_Mutation_p.I2037R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2141	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGGTAGATTTATTGTCCATGT	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(6421-6423)aTa>aGa		CUB and Sushi multiple domains 3							108.0	112.0	111.0					8																	113358346		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113358346A>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6422T>G	8.37:g.113358346A>C	ENSP00000297405:p.Ile2141Arg	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.I2101R|CSMD3_ENST00000455883.2_Missense_Mutation_p.I2037R|CSMD3_ENST00000352409.3_Missense_Mutation_p.I2071R	p.I2141R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			41	6666	-			2141			CUB 12.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.6422T>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.188052	0.78789	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	5.39	5.39	0.77823	CUB (5);	0.131978	0.51477	D	0.000096	T	0.80215	0.4582	H	0.97983	4.12	0.58432	D	0.999999	D;D;D	0.89917	0.973;0.96;1.0	P;P;D	0.79784	0.894;0.866;0.993	D	0.87282	0.2293	10	0.59425	D	0.04	.	15.5781	0.76408	1.0:0.0:0.0:0.0	.	2037;2141;2101	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	R	2101;2141;1411;2037;2071	ENSP00000345799:I2101R;ENSP00000297405:I2141R;ENSP00000341558:I1411R;ENSP00000412263:I2037R;ENSP00000343124:I2071R	ENSP00000297405:I2141R	I	-	2	0	CSMD3	113427522	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	9.097000	0.94193	2.260000	0.74910	0.528000	0.53228	ATA		0.383	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		35	246	0	0	0	1	0	35	246				
ATG2B	55102	broad.mit.edu	37	14	96771954	96771954	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr14:96771954G>A	ENST00000359933.4	-	31	5598	c.4705C>T	c.(4705-4707)Cct>Tct	p.P1569S	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1569					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GAAGTGGGAGGGACTATTCCA	0.378																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(4705-4707)Cct>Tct		autophagy related 2B							60.0	57.0	58.0					14																	96771954		2203	4300	6503	SO:0001583	missense	55102							g.chr14:96771954G>A	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.4705C>T	14.37:g.96771954G>A	ENSP00000353010:p.Pro1569Ser					ATG2B_ENST00000261834.5_5'UTR	p.P1569S	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	31	5598	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1569					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.4705C>T	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	G	17.31	3.358491	0.61403	.	.	ENSG00000066739	ENST00000359933	T	0.10192	2.9	5.41	5.41	0.78517	.	0.344926	0.33534	N	0.004812	T	0.16128	0.0388	M	0.69823	2.125	0.53005	D	0.999962	B	0.13594	0.008	B	0.09377	0.004	T	0.03394	-1.1041	10	0.25106	T	0.35	.	17.3779	0.87397	0.0:0.0:1.0:0.0	.	1569	Q96BY7	ATG2B_HUMAN	S	1569	ENSP00000353010:P1569S	ENSP00000261834:P213S	P	-	1	0	ATG2B	95841707	1.000000	0.71417	0.921000	0.36526	0.964000	0.63967	5.729000	0.68538	2.518000	0.84900	0.591000	0.81541	CCT		0.378	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		10	50	0	0	0	1	0	10	50				
ZNF214	7761	broad.mit.edu	37	11	7021955	7021955	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:7021955T>C	ENST00000278314.4	-	3	1274	c.959A>G	c.(958-960)aAt>aGt	p.N320S	ZNF214_ENST00000531083.1_5'Flank|ZNF214_ENST00000536068.1_Missense_Mutation_p.N320S	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	320					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TCTTTGATGATTGTGAAGACT	0.398																																					Ovarian(22;251 657 736 21522 46864)	ENST00000278314.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(958-960)aAt>aGt		zinc finger protein 214							108.0	112.0	111.0					11																	7021955		2200	4294	6494	SO:0001583	missense	7761				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:7021955T>C	AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"""Zinc fingers, C2H2-type"", ""-"""	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.959A>G	11.37:g.7021955T>C	ENSP00000278314:p.Asn320Ser					ZNF214_ENST00000536068.1_Missense_Mutation_p.N320S	p.N320S	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN		Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)	3	1274	-			320					B2R8Q1	Missense_Mutation	SNP	ENST00000278314.4	37	c.959A>G	CCDS31418.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.741266	0.00675	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.48201	0.82;0.82	3.46	-3.96	0.04106	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.598421	0.14940	N	0.289541	T	0.23410	0.0566	N	0.17379	0.485	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.32587	-0.9901	10	0.09084	T	0.74	.	10.7678	0.46303	0.0:0.6184:0.0:0.3816	.	320	Q9UL59	ZN214_HUMAN	S	320	ENSP00000278314:N320S;ENSP00000445373:N320S	ENSP00000278314:N320S	N	-	2	0	ZNF214	6978531	0.000000	0.05858	0.790000	0.31976	0.774000	0.43823	-3.776000	0.00369	-0.820000	0.04318	-0.250000	0.11733	AAT		0.398	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385349.1			14	131	0	0	0	1	0	14	131				
NAV2	89797	broad.mit.edu	37	11	20101734	20101734	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:20101734G>C	ENST00000396087.3	+	27	5571	c.5472G>C	c.(5470-5472)aaG>aaC	p.K1824N	NAV2_ENST00000527559.2_Missense_Mutation_p.K1753N|NAV2_ENST00000540292.1_Missense_Mutation_p.K1755N|NAV2_ENST00000311043.8_Missense_Mutation_p.K832N|NAV2_ENST00000349880.4_Missense_Mutation_p.K1768N|NAV2_ENST00000396085.1_Missense_Mutation_p.K1768N|NAV2_ENST00000360655.4_Missense_Mutation_p.K1704N|NAV2_ENST00000533917.1_Missense_Mutation_p.K832N	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1824	Poly-Lys.				glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GTGACTCAAAGAAGAAGAAGC	0.567																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(5302-5304)aaG>aaC		neuron navigator 2							72.0	66.0	68.0					11																	20101734		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20101734G>C	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.5472G>C	11.37:g.20101734G>C	ENSP00000379396:p.Lys1824Asn					NAV2_ENST00000349880.4_Missense_Mutation_p.K1768N|NAV2_ENST00000360655.4_Missense_Mutation_p.K1704N|NAV2_ENST00000396087.3_Missense_Mutation_p.K1824N|NAV2_ENST00000533917.1_Missense_Mutation_p.K832N|NAV2_ENST00000527559.2_Missense_Mutation_p.K1753N|NAV2_ENST00000311043.8_Missense_Mutation_p.K832N|NAV2_ENST00000540292.1_Missense_Mutation_p.K1755N	p.K1768N	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			25	5665	+			1824					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.5304G>C	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656077	0.88056	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000311043	D;D;D;D;D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36	5.71	5.71	0.89125	.	0.083630	0.51477	D	0.000092	D	0.95717	0.8607	L	0.57536	1.79	0.58432	D	0.999998	D;D;P;D;P	0.71674	0.991;0.985;0.952;0.998;0.921	P;P;P;D;B	0.65010	0.855;0.786;0.605;0.931;0.419	D	0.94659	0.7846	9	.	.	.	.	19.8535	0.96748	0.0:0.0:1.0:0.0	.	1768;1824;832;1768;1704	A7E2D6;Q8IVL1;Q8IVL1-5;Q8IVL1-3;Q8IVL1-4	.;NAV2_HUMAN;.;.;.	N	1704;1768;1768;1824;1753;1755;832;832	ENSP00000353871:K1704N;ENSP00000379394:K1768N;ENSP00000309577:K1768N;ENSP00000379396:K1824N;ENSP00000435395:K1753N;ENSP00000443489:K1755N;ENSP00000437316:K832N;ENSP00000312169:K832N	.	K	+	3	2	NAV2	20058310	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.778000	0.68940	2.694000	0.91930	0.557000	0.71058	AAG		0.567	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		4	23	0	0	0	1	0	4	23				
NUDT22	84304	broad.mit.edu	37	11	63994239	63994239	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:63994239G>A	ENST00000279206.3	+	2	271	c.115G>A	c.(115-117)Gag>Aag	p.E39K	TRPT1_ENST00000317459.6_5'Flank|TRPT1_ENST00000394546.2_5'Flank|TRPT1_ENST00000546133.1_5'Flank|TRPT1_ENST00000540472.1_5'Flank|RP11-783K16.14_ENST00000534988.1_RNA|TRPT1_ENST00000394547.3_5'Flank|NUDT22_ENST00000441250.2_Missense_Mutation_p.E39K|TRPT1_ENST00000546089.1_5'Flank|TRPT1_ENST00000541278.1_5'Flank	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 22	39							hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						AGGTGGGGACGAGGCCATCAC	0.687																																						ENST00000279206.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						c.(115-117)Gag>Aag		nudix (nucleoside diphosphate linked moiety X)-type motif 22							48.0	48.0	48.0					11																	63994239		2201	4297	6498	SO:0001583	missense	84304						hydrolase activity	g.chr11:63994239G>A	BC006129	CCDS8061.1, CCDS44640.1	11q13.1	2008-02-05			ENSG00000149761	ENSG00000149761		"""Nudix motif containing"""	28189	protein-coding gene	gene with protein product						12477932	Standard	NM_032344		Approved	MGC13045	uc009ype.4	Q9BRQ3	OTTHUMG00000167791	ENST00000279206.3:c.115G>A	11.37:g.63994239G>A	ENSP00000279206:p.Glu39Lys					NUDT22_ENST00000441250.2_Missense_Mutation_p.E39K	p.E39K	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720.1	Q9BRQ3	NUD22_HUMAN			2	271	+			39					C9JY06|Q71RD5	Missense_Mutation	SNP	ENST00000279206.3	37	c.115G>A	CCDS8061.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.907110	0.33628	.	.	ENSG00000149761	ENST00000539325;ENST00000279206;ENST00000441250;ENST00000428347;ENST00000536237	T;T;T;T	0.43294	0.95;2.26;2.25;1.51	4.41	-5.67	0.02444	.	0.992103	0.08217	N	0.979720	T	0.16938	0.0407	N	0.10707	0.03	0.28500	N	0.91406	B;B;B	0.20261	0.043;0.001;0.009	B;B;B	0.11329	0.002;0.001;0.006	T	0.41574	-0.9501	10	0.06891	T	0.86	-10.3971	10.2525	0.43377	0.1686:0.2493:0.5821:0.0	.	39;39;39	Q9BRQ3-2;C9JY06;Q9BRQ3	.;.;NUD22_HUMAN	K	39	ENSP00000444022:E39K;ENSP00000279206:E39K;ENSP00000407970:E39K;ENSP00000401085:E39K	ENSP00000279206:E39K	E	+	1	0	NUDT22	63750815	0.018000	0.18449	0.895000	0.35142	0.876000	0.50452	0.027000	0.13621	-1.045000	0.03250	-0.339000	0.08088	GAG		0.687	NUDT22-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396304.2	NM_032344		10	68	0	0	0	1	0	10	68				
EIF4B	1975	broad.mit.edu	37	12	53400278	53400278	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr12:53400278C>T	ENST00000262056.9	+	1	337	c.11C>T	c.(10-12)tCa>tTa	p.S4L	EIF4B_ENST00000420463.3_Missense_Mutation_p.S4L|EIF4B_ENST00000551527.1_3'UTR|EIF4B_ENST00000416762.3_Missense_Mutation_p.S4L	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	4					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						ATGGCGGCCTCAGGTGAGCGA	0.612																																						ENST00000262056.9																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(10-12)tCa>tTa		eukaryotic translation initiation factor 4B							82.0	93.0	89.0					12																	53400278		1932	4130	6062	SO:0001583	missense	1975				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	g.chr12:53400278C>T	X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"""RNA binding motif (RRM) containing"""	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.11C>T	12.37:g.53400278C>T	ENSP00000262056:p.Ser4Leu					EIF4B_ENST00000551527.1_3'UTR|EIF4B_ENST00000420463.3_Missense_Mutation_p.S4L|EIF4B_ENST00000416762.3_Missense_Mutation_p.S4L	p.S4L	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN			1	337	+			4					Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	ENST00000262056.9	37	c.11C>T	CCDS41788.1	.	.	.	.	.	.	.	.	.	.	C	32	5.189162	0.94923	.	.	ENSG00000063046	ENST00000262056;ENST00000551002;ENST00000420463;ENST00000430205;ENST00000416762;ENST00000549481;ENST00000552490	D;D;D;D;D;D	0.94232	-3.28;-3.38;-3.28;-3.28;-3.28;-3.28	5.22	5.22	0.72569	.	0.750547	0.12720	N	0.444795	D	0.94823	0.8328	L	0.31926	0.97	0.54753	D	0.999988	D;D;D	0.61080	0.989;0.981;0.967	D;D;P	0.72625	0.978;0.95;0.879	D	0.94211	0.7459	10	0.72032	D	0.01	.	16.6524	0.85220	0.0:1.0:0.0:0.0	.	4;4;4	B4DS13;E7EX17;P23588	.;.;IF4B_HUMAN	L	4	ENSP00000262056:S4L;ENSP00000447192:S4L;ENSP00000388806:S4L;ENSP00000412530:S4L;ENSP00000449746:S4L;ENSP00000450324:S4L	ENSP00000262056:S4L	S	+	2	0	EIF4B	51686545	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.871000	0.63042	2.607000	0.88179	0.655000	0.94253	TCA		0.612	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	NM_001417		15	135	0	0	0	1	0	15	135				
MBD6	114785	broad.mit.edu	37	12	57918797	57918797	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr12:57918797C>T	ENST00000355673.3	+	5	634	c.278C>T	c.(277-279)tCa>tTa	p.S93L	MBD6_ENST00000431731.2_Missense_Mutation_p.S93L	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	93						chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						GGGCCAGCATCAGAGGAGGAC	0.597																																						ENST00000355673.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						c.(277-279)tCa>tTa		methyl-CpG binding domain protein 6							80.0	84.0	83.0					12																	57918797		2203	4300	6503	SO:0001583	missense	114785					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57918797C>T	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.278C>T	12.37:g.57918797C>T	ENSP00000347896:p.Ser93Leu					MBD6_ENST00000431731.2_Missense_Mutation_p.S93L	p.S93L	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN			5	634	+			93					Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	37	c.278C>T	CCDS8944.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.616475	0.66672	.	.	ENSG00000166987	ENST00000548887;ENST00000355673;ENST00000431731;ENST00000552659	.	.	.	4.37	4.37	0.52481	.	0.329640	0.21147	N	0.079382	T	0.36193	0.0958	N	0.14661	0.345	0.35380	D	0.789829	B	0.31817	0.341	B	0.25140	0.058	T	0.53380	-0.8447	9	0.59425	D	0.04	-4.7609	16.284	0.82710	0.0:1.0:0.0:0.0	.	93	Q96DN6	MBD6_HUMAN	L	93;93;93;88	.	ENSP00000347896:S93L	S	+	2	0	MBD6	56205064	0.997000	0.39634	0.999000	0.59377	0.984000	0.73092	2.856000	0.48341	2.434000	0.82447	0.555000	0.69702	TCA		0.597	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			15	139	0	0	0	1	0	15	139				
SEC16B	89866	broad.mit.edu	37	1	177908869	177908869	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:177908869G>A	ENST00000308284.6	-	18	2260	c.2171C>T	c.(2170-2172)tCa>tTa	p.S724L	RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	724					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CGAAATATCTGAGCGAGTAGG	0.408																																						ENST00000308284.6																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(2170-2172)tCa>tTa		SEC16 homolog B (S. cerevisiae)							97.0	94.0	95.0					1																	177908869		1863	4101	5964	SO:0001583	missense	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177908869G>A	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.2171C>T	1.37:g.177908869G>A	ENSP00000308339:p.Ser724Leu					RP4-798P15.3_ENST00000528461.1_3'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR	p.S724L	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN			18	2260	-			724					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	c.2171C>T	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	G	7.235	0.600067	0.13939	.	.	ENSG00000120341	ENST00000308284;ENST00000414025;ENST00000239472	T	0.13420	2.59	5.07	0.0105	0.14083	.	1.368040	0.04513	N	0.383217	T	0.12561	0.0305	L	0.50333	1.59	0.09310	N	1	B;B;B;B	0.23185	0.081;0.001;0.001;0.001	B;B;B;B	0.15052	0.012;0.002;0.003;0.001	T	0.38112	-0.9676	10	0.11485	T	0.65	0.5069	7.5466	0.27770	0.4568:0.0:0.5432:0.0	.	279;725;724;421	B1AM07;B1AM08;Q96JE7;Q96PW0	.;.;SC16B_HUMAN;.	L	724;408;439	ENSP00000308339:S724L	ENSP00000239472:S439L	S	-	2	0	AL359075.1	176175492	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.043000	0.12043	-0.151000	0.11176	0.655000	0.94253	TCA		0.408	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		4	13	0	0	0	1	0	4	13				
IDH3B	3420	broad.mit.edu	37	20	2639112	2639112	+	3'UTR	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr20:2639112G>A	ENST00000380843.4	-	0	1473				SNORD86_ENST00000391196.1_RNA|IDH3B_ENST00000488299.1_5'UTR|SNORD57_ENST00000448188.1_RNA|IDH3B_ENST00000380851.5_Silent_p.V376V|SNORD56_ENST00000413522.1_RNA	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta						2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|NADH metabolic process (GO:0006734)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						AGGCAGCAATGACAGCCTCAG	0.493																																						ENST00000380851.5																			0				breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						c.(1126-1128)gtC>gtT		isocitrate dehydrogenase 3 (NAD+) beta	NADH(DB00157)						99.0	83.0	88.0					20																	2639112		2203	4300	6503	SO:0001624	3_prime_UTR_variant	3420				isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chr20:2639112G>A		CCDS13031.1, CCDS13032.1, CCDS74696.1	20p13	2013-02-14			ENSG00000101365	ENSG00000101365	1.1.1.41		5385	protein-coding gene	gene with protein product		604526				10575215	Standard	NM_006899		Approved	RP46	uc002wgp.4	O43837	OTTHUMG00000031699	ENST00000380843.4:c.*285C>T	20.37:g.2639112G>A						IDH3B_ENST00000488299.1_5'UTR|IDH3B_ENST00000380843.4_3'UTR	p.V376V	NM_001258384.1|NM_174855.2	NP_001245313.1|NP_777280.1	O43837	IDH3B_HUMAN			12	1158	-			376					B2RDR1|D3DVX2|D3DVX3|O95106|Q5JXS8|Q9NQ06|Q9NQ07|Q9NUZ0|Q9UEX0|Q9UG99	Silent	SNP	ENST00000380843.4	37	c.1128C>T	CCDS13032.1																																																																																				0.493	IDH3B-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077613.1			3	24	0	0	0	1	0	3	24				
UNC5C	8633	broad.mit.edu	37	4	96091445	96091445	+	Silent	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr4:96091445C>T	ENST00000453304.1	-	15	2838	c.2490G>A	c.(2488-2490)gcG>gcA	p.A830A		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	830					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TGATGGTGTTCGCAGGATCCA	0.552																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(2488-2490)gcG>gcA		unc-5 homolog C (C. elegans)							163.0	153.0	157.0					4																	96091445		2203	4300	6503	SO:0001819	synonymous_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96091445C>T	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.2490G>A	4.37:g.96091445C>T							p.A830A	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	15	2838	-		Hepatocellular(203;0.114)	830					Q8IUT0	Silent	SNP	ENST00000453304.1	37	c.2490G>A	CCDS3643.1																																																																																				0.552	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		23	190	0	0	0	1	0	23	190				
EIF5B	9669	broad.mit.edu	37	2	100015808	100015808	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:100015808C>G	ENST00000289371.6	+	24	3796	c.3594C>G	c.(3592-3594)ttC>ttG	p.F1198L		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	1198					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AAGACTGGTTCAGAGATGAAA	0.433																																					Colon(162;2388 2567 2705 3444)	ENST00000289371.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(3592-3594)ttC>ttG		eukaryotic translation initiation factor 5B							129.0	119.0	122.0					2																	100015808		1932	4154	6086	SO:0001583	missense	9669				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chr2:100015808C>G	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.3594C>G	2.37:g.100015808C>G	ENSP00000289371:p.Phe1198Leu						p.F1198L	NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN			24	3796	+			1198					O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	ENST00000289371.6	37	c.3594C>G	CCDS42721.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031890	0.75504	.	.	ENSG00000158417	ENST00000289371	T	0.62105	0.05	6.08	4.3	0.51218	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	.	.	.	.	T	0.80654	0.4664	M	0.90309	3.105	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	T	0.82248	-0.0551	8	.	.	.	-11.3904	10.1087	0.42550	0.0:0.8005:0.0:0.1995	.	1198	O60841	IF2P_HUMAN	L	1198	ENSP00000289371:F1198L	.	F	+	3	2	EIF5B	99382240	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.679000	0.37597	0.917000	0.36895	0.655000	0.94253	TTC		0.433	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904		6	83	0	0	0	1	0	6	83				
DCLRE1A	9937	broad.mit.edu	37	10	115603955	115603955	+	Silent	SNP	G	G	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr10:115603955G>C	ENST00000361384.2	-	5	3344	c.2427C>G	c.(2425-2427)gtC>gtG	p.V809V	DCLRE1A_ENST00000369305.1_Silent_p.V809V	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	809					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TGTGTAATATGACAGTACCAT	0.443								Other identified genes with known or suspected DNA repair function																														ENST00000361384.2																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(2425-2427)gtC>gtG	Other identified genes with known or suspected DNA repair function	DNA cross-link repair 1A							146.0	121.0	129.0					10																	115603955		2203	4300	6503	SO:0001819	synonymous_variant	9937				cell division|mitosis	nucleus	hydrolase activity	g.chr10:115603955G>C		CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.2427C>G	10.37:g.115603955G>C						DCLRE1A_ENST00000369305.1_Silent_p.V809V	p.V809V	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN		Epithelial(162;0.0157)|all cancers(201;0.0171)	5	3344	-			809					D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Silent	SNP	ENST00000361384.2	37	c.2427C>G	CCDS7584.1																																																																																				0.443	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881		6	79	0	0	0	1	0	6	79				
ZNF513	130557	broad.mit.edu	37	2	27601563	27601563	+	Silent	SNP	G	G	A	rs375241916		TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:27601563G>A	ENST00000323703.6	-	3	768	c.570C>T	c.(568-570)ctC>ctT	p.L190L	ZNF513_ENST00000491924.1_Intron|ZNF513_ENST00000407879.1_Silent_p.L128L	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	190					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAGGTTGACGAGCTGGGCTG	0.657																																						ENST00000323703.6																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17						c.(568-570)ctC>ctT		zinc finger protein 513		G	,	0,4406		0,0,2203	135.0	111.0	119.0		384,570	2.8	1.0	2		119	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ZNF513	NM_001201459.1,NM_144631.5	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	128/480,190/542	27601563	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	130557				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr2:27601563G>A	AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"""Zinc fingers, C2H2-type"""	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.570C>T	2.37:g.27601563G>A						ZNF513_ENST00000491924.1_Intron|ZNF513_ENST00000407879.1_Silent_p.L128L	p.L190L	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN			3	768	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		190					A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Silent	SNP	ENST00000323703.6	37	c.570C>T	CCDS1751.1																																																																																				0.657	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2	NM_144631		7	58	0	0	0	1	0	7	58				
G2E3	55632	broad.mit.edu	37	14	31071207	31071207	+	Missense_Mutation	SNP	G	G	A	rs368854800		TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr14:31071207G>A	ENST00000206595.6	+	10	1034	c.880G>A	c.(880-882)Gag>Aag	p.E294K	G2E3_ENST00000553504.1_Missense_Mutation_p.E324K|G2E3_ENST00000544007.1_3'UTR|G2E3_ENST00000438909.2_Missense_Mutation_p.E248K	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	294					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						ATCTGTAGGAGAGTTCCAAAA	0.284																																						ENST00000206595.6																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(880-882)Gag>Aag		G2/M-phase specific E3 ubiquitin protein ligase							53.0	55.0	54.0					14																	31071207		2202	4300	6502	SO:0001583	missense	55632				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr14:31071207G>A	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.880G>A	14.37:g.31071207G>A	ENSP00000206595:p.Glu294Lys					G2E3_ENST00000438909.2_Missense_Mutation_p.E248K|G2E3_ENST00000544007.1_3'UTR|G2E3_ENST00000553504.1_Missense_Mutation_p.E324K	p.E294K	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN			10	1034	+			294					Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Missense_Mutation	SNP	ENST00000206595.6	37	c.880G>A	CCDS9638.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.834|9.834	1.189151|1.189151	0.21954|0.21954	.|.	.|.	ENSG00000092140|ENSG00000092140	ENST00000206595;ENST00000438909;ENST00000553504|ENST00000552515	T;T;T|.	0.80480|.	-1.38;0.94;-0.81|.	5.72|5.72	2.89|2.89	0.33648|0.33648	.|.	1.178690|.	0.05650|.	N|.	0.585096|.	T|T	0.09905|0.09905	0.0243|0.0243	N|N	0.02011|0.02011	-0.69|-0.69	0.21416|0.21416	N|N	0.999692|0.999692	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.24119|0.24119	-1.0169|-1.0169	10|5	0.07325|.	T|.	0.83|.	-0.7961|-0.7961	6.3602|6.3602	0.21425|0.21425	0.3432:0.0:0.6568:0.0|0.3432:0.0:0.6568:0.0	.|.	209;294|.	B4DIF9;Q7L622|.	.;G2E3_HUMAN|.	K|K	294;248;324|59	ENSP00000206595:E294K;ENSP00000391068:E248K;ENSP00000451653:E324K|.	ENSP00000206595:E294K|.	E|R	+|+	1|2	0|0	G2E3|G2E3	30140958|30140958	1.000000|1.000000	0.71417|0.71417	0.819000|0.819000	0.32651|0.32651	0.978000|0.978000	0.69477|0.69477	1.502000|1.502000	0.35704|0.35704	1.421000|1.421000	0.47157|0.47157	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.284	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		5	46	0	0	0	1	0	5	46				
ZNF623	9831	broad.mit.edu	37	8	144732950	144732950	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr8:144732950G>A	ENST00000501748.2	+	1	997	c.908G>A	c.(907-909)cGc>cAc	p.R303H	ZNF623_ENST00000526926.1_Missense_Mutation_p.R263H|ZNF623_ENST00000458270.2_Missense_Mutation_p.R263H	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	303					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TTCCGTCATCGCTCAGACCTT	0.448																																						ENST00000501748.2																			0				endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27						c.(907-909)cGc>cAc		zinc finger protein 623							98.0	91.0	93.0					8																	144732950		2203	4300	6503	SO:0001583	missense	9831				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144732950G>A	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.908G>A	8.37:g.144732950G>A	ENSP00000445979:p.Arg303His					ZNF623_ENST00000458270.2_Missense_Mutation_p.R263H|ZNF623_ENST00000526926.1_Missense_Mutation_p.R263H	p.R303H	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		1	997	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		303					A4FU80|B4DGP3|E7ENV5	Missense_Mutation	SNP	ENST00000501748.2	37	c.908G>A	CCDS34957.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.994947	0.54041	.	.	ENSG00000183309	ENST00000526926;ENST00000328466;ENST00000458270;ENST00000532796;ENST00000501748	T;T;T	0.08370	3.1;3.1;3.1	4.25	4.25	0.50352	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18215	0.0437	L	0.55017	1.72	0.09310	N	1	D	0.89917	1.0	P	0.56563	0.801	T	0.09422	-1.0675	9	0.25106	T	0.35	-20.4273	14.5465	0.68035	0.0:0.0:1.0:0.0	.	303	O75123	ZN623_HUMAN	H	263;263;263;303;303	ENSP00000435232:R263H;ENSP00000411139:R263H;ENSP00000445979:R303H	ENSP00000330358:R263H	R	+	2	0	ZNF623	144804093	0.000000	0.05858	0.976000	0.42696	0.781000	0.44180	0.376000	0.20535	2.359000	0.80004	0.655000	0.94253	CGC		0.448	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789		11	94	0	0	0	1	0	11	94				
MACF1	23499	broad.mit.edu	37	1	39806526	39806526	+	Silent	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:39806526G>A	ENST00000372915.3	+	39	10584	c.10497G>A	c.(10495-10497)ctG>ctA	p.L3499L	MACF1_ENST00000567887.1_Silent_p.L3531L|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Silent_p.L1934L|MACF1_ENST00000564288.1_Silent_p.L3494L|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3499					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTCAAGATCTGAGAGCCTGGG	0.418																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(10480-10482)ctG>ctA		microtubule-actin crosslinking factor 1							67.0	64.0	65.0					1																	39806526		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39806526G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.10497G>A	1.37:g.39806526G>A						MACF1_ENST00000567887.1_Silent_p.L3531L|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000372915.3_Silent_p.L3499L|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Silent_p.L1934L|MACF1_ENST00000545844.1_Intron	p.L3494L			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		40	11259	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	3499					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.10482G>A																																																																																					0.418	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		7	65	0	0	0	1	0	7	65				
RIMBP3	85376	broad.mit.edu	37	22	20460094	20460094	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr22:20460094C>G	ENST00000426804.1	-	1	1692	c.1208G>C	c.(1207-1209)cGt>cCt	p.R403P		NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	403										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			GCAGCCTGCACGCCGCAGCTG	0.667																																						ENST00000426804.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(1207-1209)cGt>cCt		RIMS binding protein 3							14.0	13.0	13.0					22																	20460094		1072	1627	2699	SO:0001583	missense	85376							g.chr22:20460094C>G	AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.1208G>C	22.37:g.20460094C>G	ENSP00000391564:p.Arg403Pro						p.R403P	NM_015672.1	NP_056487.1			LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)		1	1692	-	Colorectal(54;0.0993)|Melanoma(16;0.165)							Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP	ENST00000426804.1	37	c.1208G>C	CCDS46665.1	.	.	.	.	.	.	.	.	.	.	c	13.88	2.369624	0.42003	.	.	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.08008	3.14	2.64	1.61	0.23674	.	0.120506	0.33895	U	0.004448	T	0.18087	0.0434	L	0.58101	1.795	0.27765	N	0.943704	D	0.71674	0.998	D	0.63597	0.916	T	0.01484	-1.1343	10	0.87932	D	0	-7.1374	7.6658	0.28430	0.0:0.8613:0.0:0.1387	.	309	Q9UFD9	RIM3A_HUMAN	P	309;403	ENSP00000391564:R403P	ENSP00000347318:R309P	R	-	2	0	RIMBP3	18840094	0.983000	0.35010	0.702000	0.30337	0.354000	0.29330	2.779000	0.47734	0.678000	0.31325	-0.465000	0.05216	CGT		0.667	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672		5	47	0	0	0	1	0	5	47				
SCAP	22937	broad.mit.edu	37	3	47456604	47456604	+	Silent	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr3:47456604G>A	ENST00000265565.5	-	19	3535	c.3123C>T	c.(3121-3123)agC>agT	p.S1041S	SCAP_ENST00000441517.2_Silent_p.S785S|SCAP_ENST00000545718.1_Silent_p.S648S	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1041	Interaction with SREBF2. {ECO:0000250}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		ACTGCAGGGGGCTGAGGGCAG	0.597																																					Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(3121-3123)agC>agT		SREBF chaperone							42.0	46.0	44.0					3																	47456604		2202	4299	6501	SO:0001819	synonymous_variant	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47456604G>A	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.3123C>T	3.37:g.47456604G>A						SCAP_ENST00000441517.2_Silent_p.S785S|SCAP_ENST00000545718.1_Silent_p.S648S	p.S1041S	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	19	3535	-			1041			Interaction with SREBF2 (By similarity).		Q8N2E0|Q8WUA1	Silent	SNP	ENST00000265565.5	37	c.3123C>T	CCDS2755.2																																																																																				0.597	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		3	34	0	0	0	1	0	3	34				
LAMA1	284217	broad.mit.edu	37	18	6985295	6985295	+	Silent	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr18:6985295C>T	ENST00000389658.3	-	39	5694	c.5601G>A	c.(5599-5601)ctG>ctA	p.L1867L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1867	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CTCTGTAGACCAGGTCGACTG	0.502																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(5599-5601)ctG>ctA		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						205.0	168.0	180.0					18																	6985295		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6985295C>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.5601G>A	18.37:g.6985295C>T							p.L1867L	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			39	5694	-		Colorectal(10;0.172)	1867			Domain II and I.			Silent	SNP	ENST00000389658.3	37	c.5601G>A	CCDS32787.1																																																																																				0.502	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		25	199	0	0	0	1	0	25	199				
ZNF213	7760	broad.mit.edu	37	16	3187479	3187479	+	Silent	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr16:3187479C>T	ENST00000396878.3	+	2	673	c.198C>T	c.(196-198)ctC>ctT	p.L66L	ZNF213_ENST00000416391.2_5'UTR|RP11-473M20.14_ENST00000571449.1_RNA|ZNF213_ENST00000576416.1_Silent_p.L66L|RP11-473M20.14_ENST00000575089.1_RNA|RP11-473M20.14_ENST00000571963.1_RNA|ZNF213_ENST00000574902.1_Silent_p.L66L|RP11-473M20.14_ENST00000576590.1_RNA	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	66	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						TCAGCCAGCTCTGGGAGCTCT	0.652																																						ENST00000396878.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						c.(196-198)ctC>ctT		zinc finger protein 213							34.0	38.0	36.0					16																	3187479		2195	4297	6492	SO:0001819	synonymous_variant	7760				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3187479C>T	AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13005	protein-coding gene	gene with protein product		608387				9653642, 10023065	Standard	NM_004220		Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.198C>T	16.37:g.3187479C>T						ZNF213_ENST00000416391.2_5'UTR|ZNF213_ENST00000574902.1_Silent_p.L66L|ZNF213_ENST00000576416.1_Silent_p.L66L	p.L66L	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN			2	673	+			66			SCAN box.		A8K1B9|B4DMG6|Q96IS1	Silent	SNP	ENST00000396878.3	37	c.198C>T	CCDS10495.1																																																																																				0.652	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437334.1	NM_004220		9	100	0	0	0	1	0	9	100				
RASSF5	83593	broad.mit.edu	37	1	206760287	206760287	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:206760287G>C	ENST00000355294.4	+	6	1291	c.1234G>C	c.(1234-1236)Gaa>Caa	p.E412Q	RASSF5_ENST00000367117.3_3'UTR|RASSF5_ENST00000491368.1_3'UTR|RASSF5_ENST00000304534.8_Missense_Mutation_p.E259Q|EIF2D_ENST00000472709.2_Intron	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	412	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein localization to nucleus (GO:1900180)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GGCCTTAAGAGAATCCCAGGG	0.413																																					GBM(162;656 1984 11916 22872 31529)	ENST00000304534.8																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8						c.(775-777)Gaa>Caa		Ras association (RalGDS/AF-6) domain family member 5							80.0	79.0	79.0					1																	206760287		2203	4300	6503	SO:0001583	missense	83593				apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding	g.chr1:206760287G>C	BC004270	CCDS1463.1, CCDS1464.1, CCDS30998.1	1q31	2014-04-10	2008-02-22		ENSG00000136653	ENSG00000266094			17609	protein-coding gene	gene with protein product		607020				11978988, 11965544	Standard	NM_182663		Approved	Maxp1, NORE1, RAPL	uc001hed.3	Q8WWW0	OTTHUMG00000184616	ENST00000355294.4:c.1234G>C	1.37:g.206760287G>C	ENSP00000347443:p.Glu412Gln					RASSF5_ENST00000355294.4_Missense_Mutation_p.E412Q|RASSF5_ENST00000338603.2_Intron|RASSF5_ENST00000491368.1_3'UTR|EIF2D_ENST00000472709.2_Intron|RASSF5_ENST00000367117.3_3'UTR	p.E259Q	NM_182665.2	NP_872606.1	Q8WWW0	RASF5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		5	1184	+	Breast(84;0.183)		412					A8K1E6|Q5SY32|Q8WWV9|Q8WXF4|Q9BT99	Missense_Mutation	SNP	ENST00000355294.4	37	c.775G>C	CCDS30998.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115990	0.37339	.	.	ENSG00000136653	ENST00000355294;ENST00000304534	T;T	0.12361	3.07;2.69	5.67	2.82	0.32997	SARAH (1);	0.317947	0.37623	N	0.002014	T	0.12092	0.0294	L	0.46157	1.445	0.80722	D	1	B;B	0.15930	0.015;0.007	B;B	0.20184	0.012;0.028	T	0.11470	-1.0586	10	0.20046	T	0.44	-18.7528	10.1495	0.42784	0.2148:0.0:0.7852:0.0	.	259;412	Q8WWW0-2;Q8WWW0	.;RASF5_HUMAN	Q	412;259	ENSP00000347443:E412Q;ENSP00000306091:E259Q	ENSP00000306091:E259Q	E	+	1	0	RASSF5	204826910	1.000000	0.71417	0.990000	0.47175	0.999000	0.98932	2.782000	0.47758	0.346000	0.23899	0.655000	0.94253	GAA		0.413	RASSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088469.1	NM_031437		7	54	0	0	0	1	0	7	54				
IRF5	3663	broad.mit.edu	37	7	128582205	128582205	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr7:128582205C>A	ENST00000402030.2	+	2	142	c.70C>A	c.(70-72)Cag>Aag	p.Q24K	IRF5_ENST00000473745.1_Missense_Mutation_p.Q24K|IRF5_ENST00000357234.5_Missense_Mutation_p.Q24K|IRF5_ENST00000249375.4_Missense_Mutation_p.Q24K|IRF5_ENST00000477535.1_Missense_Mutation_p.Q24K	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	24					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						GCTGGTGGCCCAGGTGAACAG	0.622																																						ENST00000402030.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						c.(70-72)Cag>Aag		interferon regulatory factor 5							36.0	42.0	40.0					7																	128582205		2203	4300	6503	SO:0001583	missense	3663				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:128582205C>A		CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.70C>A	7.37:g.128582205C>A	ENSP00000385352:p.Gln24Lys					IRF5_ENST00000477535.1_Missense_Mutation_p.Q24K|IRF5_ENST00000473745.1_Missense_Mutation_p.Q24K|IRF5_ENST00000249375.4_Missense_Mutation_p.Q24K|IRF5_ENST00000357234.5_Missense_Mutation_p.Q24K	p.Q24K	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN			2	142	+			24					A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Missense_Mutation	SNP	ENST00000402030.2	37	c.70C>A	CCDS5808.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725556	0.89298	.	.	ENSG00000128604	ENST00000489702;ENST00000357234;ENST00000477535;ENST00000430204;ENST00000479582;ENST00000464557;ENST00000402030;ENST00000249375;ENST00000453794;ENST00000467002;ENST00000473745;ENST00000412326	D;D;D;D;D;D;D;D;D	0.97752	-4.52;-4.52;-4.52;-4.52;-4.52;-4.52;-4.52;-4.52;-4.52	5.42	4.53	0.55603	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.000000	0.53938	D	0.000055	D	0.98588	0.9528	M	0.83384	2.64	0.54753	D	0.999981	D;D;D;D;D;D;P;D	0.76494	0.999;0.998;0.999;0.998;0.999;0.998;0.659;0.986	D;D;D;D;D;D;B;D	0.91635	0.999;0.996;0.997;0.996;0.998;0.996;0.228;0.977	D	0.99433	1.0936	10	0.87932	D	0	-5.4541	13.4912	0.61397	0.1571:0.8428:0.0:0.0	.	24;24;24;24;24;24;24;24	B4DLN8;B7Z1M2;F5H3H8;E7EW54;E9PC81;Q1A7B4;Q13568;Q13568-2	.;.;.;.;.;.;IRF5_HUMAN;.	K	24	ENSP00000418037:Q24K;ENSP00000349770:Q24K;ENSP00000419950:Q24K;ENSP00000417770:Q24K;ENSP00000419056:Q24K;ENSP00000385352:Q24K;ENSP00000249375:Q24K;ENSP00000417454:Q24K;ENSP00000419149:Q24K	ENSP00000249375:Q24K	Q	+	1	0	IRF5	128369441	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.759000	0.68785	1.278000	0.44430	0.561000	0.74099	CAG		0.622	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350934.1	NM_001098627		14	57	1	0	2.32078e-09	1	2.63768e-09	14	57				
CERS4	79603	broad.mit.edu	37	19	8321959	8321959	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr19:8321959G>A	ENST00000251363.5	+	9	1039	c.739G>A	c.(739-741)Gag>Aag	p.E247K	CERS4_ENST00000559336.1_Missense_Mutation_p.E247K|CERS4_ENST00000558331.1_Missense_Mutation_p.E196K|CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000559450.1_Missense_Mutation_p.E247K	NM_024552.2	NP_078828.2	Q9HA82	CERS4_HUMAN	ceramide synthase 4	247	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										CTACCTGCTGGAGGTGGGCCC	0.612																																						ENST00000558331.1																			0											c.(586-588)Gag>Aag		ceramide synthase 4							194.0	183.0	187.0					19																	8321959		2203	4300	6503	SO:0001583	missense	79603					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr19:8321959G>A		CCDS12197.1	19p13.2	2014-09-11	2011-07-08	2011-07-08	ENSG00000090661	ENSG00000090661		"""Homeoboxes / CERS class"""	23747	protein-coding gene	gene with protein product		615334	"""LAG1 longevity assurance homolog 4 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 4"""	LASS4			Standard	NM_024552		Approved	FLJ12089, Trh1	uc002mjg.3	Q9HA82	OTTHUMG00000172570	ENST00000251363.5:c.739G>A	19.37:g.8321959G>A	ENSP00000251363:p.Glu247Lys					CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000559336.1_Missense_Mutation_p.E247K|CERS4_ENST00000559450.1_Missense_Mutation_p.E247K|CERS4_ENST00000251363.5_Missense_Mutation_p.E247K	p.E196K			Q9HA82	CERS4_HUMAN			9	1045	+			247			TLC.		D6W665	Missense_Mutation	SNP	ENST00000251363.5	37	c.586G>A	CCDS12197.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.772331	0.90108	.	.	ENSG00000090661	ENST00000251363	D	0.85411	-1.98	5.06	5.06	0.68205	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	D	0.95010	0.8385	H	0.96861	3.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.96554	0.9410	10	0.72032	D	0.01	-33.8788	15.9213	0.79575	0.0:0.0:1.0:0.0	.	247;247	Q53HF9;Q9HA82	.;CERS4_HUMAN	K	247	ENSP00000251363:E247K	ENSP00000251363:E247K	E	+	1	0	CERS4	8227959	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	8.299000	0.89946	2.352000	0.79861	0.561000	0.74099	GAG		0.612	CERS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419200.1	NM_024552		20	188	0	0	0	1	0	20	188				
ZFC3H1	196441	broad.mit.edu	37	12	72022728	72022728	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr12:72022728C>T	ENST00000378743.3	-	20	4274	c.3916G>A	c.(3916-3918)Gag>Aag	p.E1306K		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1306					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GACTGTTCCTCATCACTACTG	0.328																																						ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(3916-3918)Gag>Aag		zinc finger, C3H1-type containing							146.0	133.0	137.0					12																	72022728		1825	4077	5902	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72022728C>T	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.3916G>A	12.37:g.72022728C>T	ENSP00000368017:p.Glu1306Lys						p.E1306K	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			20	4274	-			1306					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.3916G>A	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.117633	0.77323	.	.	ENSG00000133858	ENST00000378743	T	0.32023	1.47	5.87	5.87	0.94306	.	0.309039	0.34628	N	0.003806	T	0.23451	0.0567	N	0.24115	0.695	0.80722	D	1	B	0.29531	0.247	B	0.24974	0.057	T	0.04915	-1.0918	10	0.16896	T	0.51	.	20.2009	0.98259	0.0:1.0:0.0:0.0	.	1306	O60293	ZC3H1_HUMAN	K	1306	ENSP00000368017:E1306K	ENSP00000368017:E1306K	E	-	1	0	ZFC3H1	70308995	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.073000	0.71245	2.767000	0.95098	0.591000	0.81541	GAG		0.328	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		11	88	0	0	0	1	0	11	88				
HDAC8	55869	broad.mit.edu	37	X	71792516	71792516	+	Silent	SNP	G	G	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chrX:71792516G>T	ENST00000373573.3	-	1	437	c.96C>A	c.(94-96)gcC>gcA	p.A32A	HDAC8_ENST00000373556.3_Silent_p.A32A|HDAC8_ENST00000373560.2_Silent_p.A32A|HDAC8_ENST00000373583.1_Silent_p.A32A|HDAC8_ENST00000439122.2_Silent_p.A32A|HDAC8_ENST00000429103.2_5'UTR|HDAC8_ENST00000478743.1_5'UTR|HDAC8_ENST00000373589.4_Silent_p.A32A|HDAC8_ENST00000373559.4_Silent_p.A32A|HDAC8_ENST00000373561.4_Silent_p.A32A|HDAC8_ENST00000373571.1_Silent_p.A32A|HDAC8_ENST00000373554.1_Silent_p.A32A	NM_018486.2	NP_060956.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	32	Histone deacetylase.				chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cohesin localization to chromatin (GO:0071922)|sister chromatid cohesion (GO:0007062)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	TGGGGATCTTGGCCAGGGAGT	0.592																																						ENST00000439122.2																			0				breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10						c.(94-96)gcC>gcA		histone deacetylase 8	Vorinostat(DB02546)						85.0	78.0	80.0					X																	71792516		2203	4300	6503	SO:0001819	synonymous_variant	55869				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding	g.chrX:71792516G>T	AF230097	CCDS14420.1, CCDS55448.1, CCDS55449.1, CCDS55450.1, CCDS55451.1, CCDS55452.1	Xq13	2014-01-29	2002-09-02	2002-09-06	ENSG00000147099	ENSG00000147099			13315	protein-coding gene	gene with protein product		300269	"""histone deacetylase-like 1"", ""Wilson-Turner X-linked mental retardation syndrome"""	HDACL1, WTS, MRXS6		10756090, 10922473, 22889856	Standard	NM_001166448		Approved	RPD3	uc004eau.3	Q9BY41	OTTHUMG00000021814	ENST00000373573.3:c.96C>A	X.37:g.71792516G>T						HDAC8_ENST00000373573.3_Silent_p.A32A|HDAC8_ENST00000373583.1_Silent_p.A32A|HDAC8_ENST00000373589.4_Silent_p.A32A|HDAC8_ENST00000373554.1_Silent_p.A32A|HDAC8_ENST00000373561.4_Silent_p.A32A|HDAC8_ENST00000478743.1_5'UTR|HDAC8_ENST00000373560.2_Silent_p.A32A|HDAC8_ENST00000373556.3_Silent_p.A32A|HDAC8_ENST00000373571.1_Silent_p.A32A|HDAC8_ENST00000373559.4_Silent_p.A32A|HDAC8_ENST00000429103.2_5'UTR	p.A32A	NM_001166419.1	NP_001159891.1	Q9BY41	HDAC8_HUMAN			1	382	-	Renal(35;0.156)		32			Histone deacetylase.		A6ND12|A6ND61|A6NET3|A6NJR3|A8MQ62|B4DKN0|B4DV22|Q86VC8|Q9NP76|Q9NYH4	Silent	SNP	ENST00000373573.3	37	c.96C>A	CCDS14420.1																																																																																				0.592	HDAC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057193.2	NM_018486		10	82	1	0	5.50884e-06	1	5.99616e-06	10	82				
CCNI	10983	broad.mit.edu	37	4	77979787	77979787	+	Splice_Site	SNP	T	T	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr4:77979787T>A	ENST00000237654.4	-	3	692	c.116A>T	c.(115-117)aAt>aTt	p.N39I	CCNI_ENST00000504697.1_5'UTR|CCNI_ENST00000537948.1_Splice_Site_p.N25I	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN	cyclin I	39					regulation of cell cycle (GO:0051726)|spermatogenesis (GO:0007283)					NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						TGGAGAAACATTCTATAAGGG	0.363																																						ENST00000237654.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						c.e3-1		cyclin I							111.0	108.0	109.0					4																	77979787		2203	4300	6503	SO:0001630	splice_region_variant	10983				spermatogenesis			g.chr4:77979787T>A	D50310	CCDS3580.1	4q21.1	2014-07-03			ENSG00000118816	ENSG00000118816			1595	protein-coding gene	gene with protein product						7493655	Standard	NM_006835		Approved	CCNI1	uc003hkm.3	Q14094	OTTHUMG00000130106	ENST00000237654.4:c.115-1A>T	4.37:g.77979787T>A						CCNI_ENST00000504697.1_5'UTR|CCNI_ENST00000537948.1_Splice_Site_p.N25_splice	p.N39_splice	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN			3	692	-			39					B2R6M0|B7Z6X4	Splice_Site	SNP	ENST00000237654.4	37	c.114_splice	CCDS3580.1	.	.	.	.	.	.	.	.	.	.	T	11.51	1.659919	0.29515	.	.	ENSG00000118816	ENST00000237654;ENST00000537948;ENST00000505609;ENST00000513774;ENST00000507788	T;T;T;T	0.11712	2.75;2.75;2.75;2.75	5.41	2.96	0.34315	Cyclin, N-terminal (1);Cyclin-like (2);	0.334239	0.38663	N	0.001619	T	0.08268	0.0206	N	0.24115	0.695	0.34877	D	0.74416	P;B	0.47545	0.897;0.332	B;B	0.43018	0.405;0.262	T	0.25047	-1.0143	10	0.87932	D	0	-16.689	8.6852	0.34234	0.0:0.2175:0.0:0.7825	.	25;39	B7Z6X4;Q14094	.;CCNI_HUMAN	I	39;25;39;39;25	ENSP00000237654:N39I;ENSP00000441001:N25I;ENSP00000426467:N39I;ENSP00000426235:N39I	ENSP00000237654:N39I	N	-	2	0	CCNI	78198811	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	3.403000	0.52615	0.994000	0.38892	0.528000	0.53228	AAT		0.363	CCNI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252412.2	NM_006835	Missense_Mutation	16	107	0	0	0	1	0	16	107				
ZNF878	729747	broad.mit.edu	37	19	12155051	12155051	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr19:12155051G>C	ENST00000547628.1	-	4	1302	c.1165C>G	c.(1165-1167)Cac>Gac	p.H389D	CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.H436D|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	389					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TCTCCAGTGTGAGTCCTTTCA	0.428																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(1306-1308)Cac>Gac		zinc finger protein 878							57.0	60.0	59.0					19																	12155051		2201	4300	6501	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155051G>C		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.1165C>G	19.37:g.12155051G>C	ENSP00000447931:p.His389Asp					CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.H389D|CTD-2006C1.2_ENST00000591838.1_RNA	p.H436D			C9JN71	ZN878_HUMAN			5	1305	-			389						Missense_Mutation	SNP	ENST00000547628.1	37	c.1306C>G	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671006	0.67814	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.67698	-0.28	1.29	1.29	0.21616	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85349	0.5676	H	0.96633	3.855	0.38849	D	0.956227	D	0.89917	1.0	D	0.97110	1.0	D	0.86878	0.2040	9	0.87932	D	0	.	9.4834	0.38915	0.0:0.0:1.0:0.0	.	389	C9JN71	ZN878_HUMAN	D	389;436	ENSP00000447931:H389D	ENSP00000447931:H389D	H	-	1	0	AC022415.4;ZNF878	12016051	1.000000	0.71417	0.393000	0.26258	0.713000	0.41058	7.390000	0.79816	0.669000	0.31146	0.305000	0.20034	CAC		0.428	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		7	81	0	0	0	1	0	7	81				
UBN1	29855	broad.mit.edu	37	16	4924259	4924259	+	Silent	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr16:4924259G>A	ENST00000396658.4	+	14	2551	c.1848G>A	c.(1846-1848)caG>caA	p.Q616Q	UBN1_ENST00000590769.1_Silent_p.Q616Q|UBN1_ENST00000262376.6_Silent_p.Q616Q|UBN1_ENST00000545171.1_Silent_p.Q616Q	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	616					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CATCAGGACAGATTGGTGGCC	0.507																																						ENST00000396658.4																			0				NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(1846-1848)caG>caA		ubinuclein 1							108.0	116.0	113.0					16																	4924259		2197	4300	6497	SO:0001819	synonymous_variant	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4924259G>A	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.1848G>A	16.37:g.4924259G>A						UBN1_ENST00000262376.6_Silent_p.Q616Q|UBN1_ENST00000590769.1_Silent_p.Q616Q|UBN1_ENST00000545171.1_Silent_p.Q616Q	p.Q616Q	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN			14	2551	+			616					B7Z6D3|D3DUE8|Q13079|Q9P1P7	Silent	SNP	ENST00000396658.4	37	c.1848G>A	CCDS10525.1																																																																																				0.507	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		22	250	0	0	0	1	0	22	250				
CORIN	10699	broad.mit.edu	37	4	47765413	47765413	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr4:47765413G>C	ENST00000273857.4	-	4	599	c.600C>G	c.(598-600)atC>atG	p.I200M	CORIN_ENST00000502252.1_Missense_Mutation_p.I133M|CORIN_ENST00000508498.1_Missense_Mutation_p.I61M|CORIN_ENST00000504584.1_Missense_Mutation_p.I200M|CORIN_ENST00000505909.1_Missense_Mutation_p.I200M	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	200	FZ 1. {ECO:0000255|PROSITE- ProRule:PRU00090}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CGCCATCAATGATGCACTCAG	0.408																																						ENST00000273857.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.(598-600)atC>atG		corin, serine peptidase							77.0	66.0	70.0					4																	47765413		2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47765413G>C	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.600C>G	4.37:g.47765413G>C	ENSP00000273857:p.Ile200Met					CORIN_ENST00000502252.1_Missense_Mutation_p.I133M|CORIN_ENST00000504584.1_Missense_Mutation_p.I200M|CORIN_ENST00000505909.1_Missense_Mutation_p.I200M|CORIN_ENST00000508498.1_Missense_Mutation_p.I61M	p.I200M	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN			4	599	-			200			FZ 1.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.600C>G	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.354797	0.24512	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9	5.09	2.37	0.29283	Frizzled domain (5);	0.625123	0.15741	N	0.246928	T	0.76608	0.4011	L	0.42245	1.32	0.18873	N	0.999986	D;D;P;P;P	0.55172	0.97;0.966;0.867;0.754;0.922	P;P;P;P;P	0.60609	0.776;0.715;0.877;0.857;0.819	T	0.65236	-0.6217	10	0.72032	D	0.01	.	7.8892	0.29667	0.1488:0.1331:0.7181:0.0	.	200;200;133;61;200	B7Z4R1;B4E2W9;B4E1Y7;B4DZA3;Q9Y5Q5	.;.;.;.;CORIN_HUMAN	M	200;61;133;200;200	ENSP00000273857:I200M;ENSP00000425597:I61M;ENSP00000424212:I133M;ENSP00000425401:I200M;ENSP00000423216:I200M	ENSP00000273857:I200M	I	-	3	3	CORIN	47460170	0.763000	0.28462	0.026000	0.17262	0.017000	0.09413	2.071000	0.41500	0.245000	0.21373	-0.136000	0.14681	ATC		0.408	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			3	32	0	0	0	1	0	3	32				
DHX30	22907	broad.mit.edu	37	3	47889778	47889778	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr3:47889778C>T	ENST00000445061.1	+	15	2802	c.2395C>T	c.(2395-2397)Cgg>Tgg	p.R799W	DHX30_ENST00000457607.1_Missense_Mutation_p.R827W|MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000348968.4_Missense_Mutation_p.R771W|DHX30_ENST00000446256.2_Missense_Mutation_p.R760W	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	799	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CCCTCGAAGCCGGCTGGAGAA	0.597																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(2278-2280)Cgg>Tgg		DEAH (Asp-Glu-Ala-His) box helicase 30							39.0	45.0	43.0					3																	47889778		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47889778C>T	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.2395C>T	3.37:g.47889778C>T	ENSP00000405620:p.Arg799Trp					DHX30_ENST00000457607.1_Missense_Mutation_p.R827W|DHX30_ENST00000445061.1_Missense_Mutation_p.R799W|DHX30_ENST00000348968.4_Missense_Mutation_p.R771W	p.R760W	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	16	2850	+			799			Helicase C-terminal.		A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.2278C>T	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316682	0.60524	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.02709	4.19;4.19;4.19;4.19	5.72	4.76	0.60689	Helicase, C-terminal (1);	0.138580	0.50627	D	0.000101	T	0.13586	0.0329	M	0.73217	2.22	0.48632	D	0.999685	D;D	0.89917	1.0;0.999	P;D	0.70227	0.895;0.968	T	0.00367	-1.1785	10	0.44086	T	0.13	.	16.5785	0.84707	0.1389:0.8611:0.0:0.0	.	799;760	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	W	760;799;771;827	ENSP00000392601:R760W;ENSP00000405620:R799W;ENSP00000343442:R771W;ENSP00000394682:R827W	ENSP00000343442:R771W	R	+	1	2	DHX30	47864782	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	3.943000	0.56621	2.687000	0.91594	0.655000	0.94253	CGG		0.597	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		4	51	0	0	0	1	0	4	51				
USO1	8615	broad.mit.edu	37	4	76726448	76726448	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr4:76726448G>C	ENST00000538159.1	+	20	2308	c.2308G>C	c.(2308-2310)Gaa>Caa	p.E770Q	USO1_ENST00000514213.2_Missense_Mutation_p.E746Q			O60763	USO1_HUMAN	USO1 vesicle transport factor	761					ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CTCTATGATTGAAAATATGGT	0.338																																						ENST00000538159.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2308-2310)Gaa>Caa		USO1 vesicle transport factor							34.0	32.0	33.0					4																	76726448		1815	4073	5888	SO:0001583	missense	8615				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity	g.chr4:76726448G>C	AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"""vesicle docking protein"", ""transcytosis associated protein"""	603344	"""USO1 homolog, vesicle docking protein (yeast)"", ""USO1 vesicle docking protein homolog (yeast)"""			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.2308G>C	4.37:g.76726448G>C	ENSP00000440586:p.Glu770Gln					USO1_ENST00000514213.2_Missense_Mutation_p.E746Q	p.E770Q			O60763	USO1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		20	2308	+			761					B2RAQ0|Q6PK63|Q86TB8|Q8N592	Missense_Mutation	SNP	ENST00000538159.1	37	c.2308G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.58|10.58	1.391476|1.391476	0.25118|0.25118	.|.	.|.	ENSG00000138768|ENSG00000138768	ENST00000508939;ENST00000538159;ENST00000514213;ENST00000264904|ENST00000441296	.|.	.|.	.|.	5.8|5.8	4.96|4.96	0.65561|0.65561	Armadillo-type fold (1);|.	0.341241|.	0.36972|.	N|.	0.002305|.	T|T	0.54240|0.54240	0.1846|0.1846	L|L	0.54323|0.54323	1.7|1.7	0.29957|0.29957	N|N	0.819755|0.819755	B;P|.	0.49961|.	0.447;0.93|.	B;B|.	0.38428|.	0.156;0.273|.	T|T	0.54840|0.54840	-0.8233|-0.8233	9|5	0.05721|.	T|.	0.95|.	.|.	14.8758|14.8758	0.70493|0.70493	0.0688:0.0:0.9312:0.0|0.0688:0.0:0.9312:0.0	.|.	770;761|.	F5GYR8;O60763|.	.;USO1_HUMAN|.	Q|F	596;770;746;689|436	.|.	ENSP00000264904:E689Q|.	E|L	+|+	1|3	0|2	USO1|USO1	76945472|76945472	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.059000|0.059000	0.15707|0.15707	5.717000|5.717000	0.68446|0.68446	1.466000|1.466000	0.48025|0.48025	-0.391000|-0.391000	0.06502|0.06502	GAA|TTG		0.338	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003715		3	31	0	0	0	1	0	3	31				
SERPING1	710	broad.mit.edu	37	11	57367739	57367739	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:57367739G>A	ENST00000278407.4	+	3	666	c.439G>A	c.(439-441)Gta>Ata	p.V147I	SERPING1_ENST00000403558.1_Missense_Mutation_p.V181I|SERPING1_ENST00000340687.6_Missense_Mutation_p.V147I|SERPING1_ENST00000378324.2_Missense_Mutation_p.V95I|SERPING1_ENST00000378323.4_Missense_Mutation_p.V152I	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	147					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GGATGCTTTGGTAGATTTCTC	0.542																																						ENST00000403558.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						c.(541-543)Gta>Ata		serpin peptidase inhibitor, clade G (C1 inhibitor), member 1							123.0	127.0	126.0					11																	57367739		2201	4296	6497	SO:0001583	missense	710				blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	g.chr11:57367739G>A	X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.439G>A	11.37:g.57367739G>A	ENSP00000278407:p.Val147Ile					SERPING1_ENST00000378324.2_Missense_Mutation_p.V95I|SERPING1_ENST00000340687.6_Missense_Mutation_p.V147I|SERPING1_ENST00000278407.4_Missense_Mutation_p.V147I|SERPING1_ENST00000378323.4_Missense_Mutation_p.V152I	p.V181I	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN			2	907	+			147					A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Missense_Mutation	SNP	ENST00000278407.4	37	c.541G>A	CCDS7962.1	.	.	.	.	.	.	.	.	.	.	G	7.940	0.742647	0.15642	.	.	ENSG00000149131	ENST00000405496;ENST00000278407;ENST00000340687;ENST00000378323;ENST00000378324;ENST00000403558	D;D;D;D;D;D	0.90069	-2.61;-1.82;-1.82;-1.82;-1.82;-1.82	5.94	-2.33	0.06724	Serpin domain (2);	1.415260	0.03741	N	0.254954	T	0.72011	0.3408	N	0.00926	-1.1	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.12156	0.007;0.003;0.007;0.007	T	0.61515	-0.7047	10	0.38643	T	0.18	.	10.7841	0.46395	0.4982:0.0:0.5018:0.0	.	152;181;147;147	B4E1F0;E9PGN7;E9KL26;P05155	.;.;.;IC1_HUMAN	I	147;147;147;152;95;181	ENSP00000384561:V147I;ENSP00000278407:V147I;ENSP00000341861:V147I;ENSP00000367574:V152I;ENSP00000367575:V95I;ENSP00000384420:V181I	ENSP00000278407:V147I	V	+	1	0	SERPING1	57124315	0.027000	0.19231	0.002000	0.10522	0.196000	0.23810	0.025000	0.13577	-0.628000	0.05582	-1.069000	0.02264	GTA		0.542	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1	NM_000062		31	155	0	0	0	1	0	31	155				
LZTFL1	54585	broad.mit.edu	37	3	45872573	45872573	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr3:45872573C>T	ENST00000296135.6	-	6	688	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	LZTFL1_ENST00000490463.1_5'UTR|LZTFL1_ENST00000536047.1_Missense_Mutation_p.E155K|LZTFL1_ENST00000539217.1_Missense_Mutation_p.E168K	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	172	Interaction with BSS9.				establishment of protein localization to organelle (GO:0072594)	BBSome (GO:0034464)|cytoplasm (GO:0005737)	identical protein binding (GO:0042802)			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		ACCTGTATTTCAATGGTCTTC	0.279																																						ENST00000296135.6																			0				endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8						c.(514-516)Gaa>Aaa		leucine zipper transcription factor-like 1							84.0	79.0	81.0					3																	45872573		2200	4299	6499	SO:0001583	missense	54585							g.chr3:45872573C>T	AJ297351	CCDS2731.1, CCDS63608.1, CCDS63609.1	3p21.3	2014-01-28			ENSG00000163818	ENSG00000163818			6741	protein-coding gene	gene with protein product		606568				11352561, 22510444	Standard	NM_020347		Approved	BBS17	uc003cox.2	Q9NQ48	OTTHUMG00000133452	ENST00000296135.6:c.514G>A	3.37:g.45872573C>T	ENSP00000296135:p.Glu172Lys					LZTFL1_ENST00000539217.1_Missense_Mutation_p.E168K|LZTFL1_ENST00000536047.1_Missense_Mutation_p.E155K|LZTFL1_ENST00000490463.1_5'UTR	p.E172K	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)	6	688	-			172					B3KSI9|B4E0K7|Q8TC61|Q9NQ56	Missense_Mutation	SNP	ENST00000296135.6	37	c.514G>A	CCDS2731.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159770	0.94727	.	.	ENSG00000163818	ENST00000296135;ENST00000536047;ENST00000539217	T;T;T	0.31247	1.5;1.5;1.5	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.57902	0.2085	M	0.75777	2.31	0.80722	D	1	D	0.76494	0.999	D	0.69654	0.965	T	0.60037	-0.7341	10	0.72032	D	0.01	-23.0128	19.7133	0.96105	0.0:1.0:0.0:0.0	.	172	Q9NQ48	LZTL1_HUMAN	K	172;155;168	ENSP00000296135:E172K;ENSP00000439522:E155K;ENSP00000441784:E168K	ENSP00000296135:E172K	E	-	1	0	LZTFL1	45847577	1.000000	0.71417	0.131000	0.22000	0.888000	0.51559	4.335000	0.59298	2.725000	0.93324	0.655000	0.94253	GAA		0.279	LZTFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257326.3	NM_020347		6	32	0	0	0	1	0	6	32				
RELN	5649	broad.mit.edu	37	7	103137151	103137151	+	Silent	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr7:103137151G>A	ENST00000428762.1	-	56	9174	c.9015C>T	c.(9013-9015)taC>taT	p.Y3005Y	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Silent_p.Y3005Y|RELN_ENST00000343529.5_Silent_p.Y3005Y	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3005					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAAGAAGTATGTAGTCGTGTC	0.428																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(9013-9015)taC>taT		reelin							119.0	103.0	108.0					7																	103137151		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103137151G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.9015C>T	7.37:g.103137151G>A						RELN_ENST00000343529.5_Silent_p.Y3005Y|RELN_ENST00000428762.1_Silent_p.Y3005Y|CTB-107G13.1_ENST00000422488.1_RNA	p.Y3005Y			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	56	9174	-			3005					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.9015C>T	CCDS47680.1																																																																																				0.428	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		5	96	0	0	0	1	0	5	96				
CNOT4	4850	broad.mit.edu	37	7	135080595	135080595	+	Nonsense_Mutation	SNP	G	G	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr7:135080595G>C	ENST00000315544.5	-	9	1199	c.920C>G	c.(919-921)tCa>tGa	p.S307*	CNOT4_ENST00000428680.2_Nonsense_Mutation_p.S304*|CNOT4_ENST00000361528.4_Nonsense_Mutation_p.S304*|CNOT4_ENST00000423368.2_Nonsense_Mutation_p.S307*|CNOT4_ENST00000414802.1_Nonsense_Mutation_p.S307*|CNOT4_ENST00000356162.4_Nonsense_Mutation_p.S307*|CNOT4_ENST00000541284.1_Nonsense_Mutation_p.S307*|CNOT4_ENST00000451834.1_Nonsense_Mutation_p.S304*	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	307					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						ATTGGATTTTGACAAACCAGG	0.388																																					Ovarian(51;766 1130 5502 35047 50875)	ENST00000428680.2																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						c.(910-912)tCa>tGa		CCR4-NOT transcription complex, subunit 4							192.0	178.0	182.0					7																	135080595		1921	4119	6040	SO:0001587	stop_gained	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135080595G>C	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.920C>G	7.37:g.135080595G>C	ENSP00000326731:p.Ser307*					CNOT4_ENST00000541284.1_Nonsense_Mutation_p.S307*|CNOT4_ENST00000315544.5_Nonsense_Mutation_p.S307*|CNOT4_ENST00000414802.1_Nonsense_Mutation_p.S307*|CNOT4_ENST00000451834.1_Nonsense_Mutation_p.S304*|CNOT4_ENST00000361528.4_Nonsense_Mutation_p.S304*|CNOT4_ENST00000423368.2_Nonsense_Mutation_p.S307*|CNOT4_ENST00000356162.4_Nonsense_Mutation_p.S307*	p.S304*	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN			9	1190	-			307					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Nonsense_Mutation	SNP	ENST00000315544.5	37	c.911C>G	CCDS55166.1	.	.	.	.	.	.	.	.	.	.	G	40	7.936053	0.98571	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000414802;ENST00000356162;ENST00000428680;ENST00000315544	.	.	.	5.94	5.94	0.96194	.	0.110591	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-12.2616	19.3475	0.94370	0.0:0.0:1.0:0.0	.	.	.	.	X	307;304;307;307;304;307;307;304;307	.	ENSP00000262563:S307X	S	-	2	0	CNOT4	134731135	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.310000	0.72830	2.822000	0.97130	0.557000	0.71058	TCA		0.388	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		21	41	0	0	0	1	0	21	41				
CSMD3	114788	broad.mit.edu	37	8	113259262	113259262	+	Silent	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr8:113259262C>T	ENST00000297405.5	-	64	10453	c.10209G>A	c.(10207-10209)caG>caA	p.Q3403Q	CSMD3_ENST00000343508.3_Silent_p.Q3363Q|CSMD3_ENST00000352409.3_Silent_p.Q3333Q|CSMD3_ENST00000455883.2_Silent_p.Q3234Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3403	Sushi 27. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGCATTCAGGCTGAATCCCAC	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(10207-10209)caG>caA		CUB and Sushi multiple domains 3							122.0	104.0	110.0					8																	113259262		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113259262C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10209G>A	8.37:g.113259262C>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Silent_p.Q3363Q|CSMD3_ENST00000455883.2_Silent_p.Q3234Q|CSMD3_ENST00000352409.3_Silent_p.Q3333Q	p.Q3403Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			64	10453	-			3403			Sushi 27.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.10209G>A	CCDS6315.1																																																																																				0.393	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		11	42	0	0	0	1	0	11	42				
AVPR1A	552	broad.mit.edu	37	12	63541270	63541270	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr12:63541270C>G	ENST00000299178.2	-	2	1231	c.1126G>C	c.(1126-1128)Gaa>Caa	p.E376Q		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	376					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	TCAGTATCTTCTTTGTTGAAT	0.403																																						ENST00000299178.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26						c.(1126-1128)Gaa>Caa		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						212.0	202.0	205.0					12																	63541270		2203	4300	6503	SO:0001583	missense	552				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63541270C>G	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.1126G>C	12.37:g.63541270C>G	ENSP00000299178:p.Glu376Gln						p.E376Q	NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	2	1231	-			376						Missense_Mutation	SNP	ENST00000299178.2	37	c.1126G>C	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	C	7.603	0.673242	0.14776	.	.	ENSG00000166148	ENST00000550940;ENST00000299178	T;T	0.70045	-0.45;0.27	6.06	6.06	0.98353	Domain of unknown function DUF1856 (1);	0.201406	0.51477	D	0.000093	T	0.72028	0.3410	M	0.79926	2.475	0.47308	D	0.999387	B	0.15719	0.014	B	0.25614	0.062	T	0.66064	-0.6016	9	.	.	.	-1.6131	19.609	0.95594	0.0:1.0:0.0:0.0	.	376	P37288	V1AR_HUMAN	Q	157;376	ENSP00000449822:E157Q;ENSP00000299178:E376Q	.	E	-	1	0	AVPR1A	61827537	1.000000	0.71417	0.999000	0.59377	0.071000	0.16799	5.530000	0.67141	2.882000	0.98803	0.655000	0.94253	GAA		0.403	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			21	130	0	0	0	1	0	21	130				
QRICH1	54870	broad.mit.edu	37	3	49064276	49064276	+	IGR	SNP	G	G	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr3:49064276G>C	ENST00000395443.2	-	0	3549				RP13-131K19.6_ENST00000607245.1_RNA|IMPDH2_ENST00000326739.4_Missense_Mutation_p.I221M	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1							nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TCCGGGCAATGATGGCCACAA	0.527																																						ENST00000326739.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16						c.(661-663)atC>atG		IMP (inosine 5'-monophosphate) dehydrogenase 2	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)						157.0	152.0	153.0					3																	49064276		2203	4300	6503	SO:0001628	intergenic_variant	3615				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding	g.chr3:49064276G>C		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772		3.37:g.49064276G>C							p.I221M	NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	7	702	-			221			CBS 2.		Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	c.663C>G	CCDS2787.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.67|11.67	1.706781|1.706781	0.30232|0.30232	.|.	.|.	ENSG00000178035|ENSG00000178035	ENST00000429182|ENST00000537036;ENST00000326739;ENST00000442157	.|D;D	.|0.95554	.|-3.74;-3.74	5.97|5.97	4.2|4.2	0.49525|0.49525	.|Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (3);IMP dehydrogenase/GMP reductase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90810|0.90810	0.7114|0.7114	N|N	0.25426|0.25426	0.745|0.745	0.58432|0.58432	D|D	0.999999|0.999999	.|B	.|0.28636	.|0.218	.|B	.|0.35114	.|0.196	D|D	0.85609|0.85609	0.1257|0.1257	5|10	.|0.35671	.|T	.|0.21	-20.1894|-20.1894	7.3153|7.3153	0.26498|0.26498	0.1368:0.0:0.6291:0.2341|0.1368:0.0:0.6291:0.2341	.|.	.|221	.|P12268	.|IMDH2_HUMAN	D|M	153|221;221;196	.|ENSP00000321584:I221M;ENSP00000403502:I196M	.|ENSP00000321584:I221M	H|I	-|-	1|3	0|3	IMPDH2|IMPDH2	49039280|49039280	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	1.118000|1.118000	0.31246|0.31246	0.872000|0.872000	0.35775|0.35775	0.655000|0.655000	0.94253|0.94253	CAT|ATC		0.527	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		15	163	0	0	0	1	0	15	163				
TNKS1BP1	85456	broad.mit.edu	37	11	57069412	57069412	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:57069412G>A	ENST00000532437.1	-	8	5151	c.4840C>T	c.(4840-4842)Cgg>Tgg	p.R1614W	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.R1614W			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1614	Arg/Glu/Lys-rich (charged).				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CGAGATGCCCGTGGCTCTGCA	0.587																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4840-4842)Cgg>Tgg		tankyrase 1 binding protein 1, 182kDa							58.0	58.0	58.0					11																	57069412		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57069412G>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.4840C>T	11.37:g.57069412G>A	ENSP00000437271:p.Arg1614Trp					TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.R1614W	p.R1614W			Q9C0C2	TB182_HUMAN			8	5151	-		all_epithelial(135;0.21)	1614			Arg/Glu/Lys-rich (charged).		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.4840C>T	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.866693	0.72065	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.37752	1.18;1.18	4.94	4.0	0.46444	.	0.072907	0.53938	D	0.000047	T	0.53642	0.1809	M	0.64997	1.995	0.26260	N	0.978586	D;D	0.89917	1.0;1.0	D;D	0.68765	0.96;0.917	T	0.48801	-0.9003	10	0.87932	D	0	-19.7496	11.4568	0.50187	0.0:0.0:0.8125:0.1875	.	1614;196	Q9C0C2;Q86TK2	TB182_HUMAN;.	W	1614	ENSP00000350990:R1614W;ENSP00000437271:R1614W	ENSP00000350990:R1614W	R	-	1	2	TNKS1BP1	56825988	0.026000	0.19158	0.890000	0.34922	0.928000	0.56348	2.147000	0.42226	1.015000	0.39444	0.561000	0.74099	CGG		0.587	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		4	69	0	0	0	1	0	4	69				
LRRC37B	114659	broad.mit.edu	37	17	30361940	30361940	+	Missense_Mutation	SNP	G	G	A	rs373846335		TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr17:30361940G>A	ENST00000341671.7	+	6	1993	c.1988G>A	c.(1987-1989)cGc>cAc	p.R663H	LRRC37B_ENST00000327564.7_Missense_Mutation_p.R690H|LRRC37B_ENST00000584368.1_Missense_Mutation_p.R624H|LRRC37B_ENST00000394713.3_Missense_Mutation_p.R612H|LRRC37B_ENST00000543378.2_Missense_Mutation_p.R581H	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	663						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ATTCTCAATCGCAATCCTCTG	0.323																																						ENST00000327564.7																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(2068-2070)cGc>cAc		leucine rich repeat containing 37B		G	HIS/ARG	0,4404		0,0,2202	56.0	53.0	54.0		1988	-5.1	0.0	17		54	1,8591	1.2+/-3.3	0,1,4295	no	missense	LRRC37B	NM_052888.2	29	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	benign	663/948	30361940	1,12995	2202	4296	6498	SO:0001583	missense	114659					integral to membrane		g.chr17:30361940G>A	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.1988G>A	17.37:g.30361940G>A	ENSP00000340519:p.Arg663His					LRRC37B_ENST00000394713.3_Missense_Mutation_p.R612H|LRRC37B_ENST00000341671.7_Missense_Mutation_p.R663H|LRRC37B_ENST00000543378.2_Missense_Mutation_p.R581H|LRRC37B_ENST00000584368.1_Missense_Mutation_p.R624H	p.R690H			Q96QE4	LR37B_HUMAN			6	2130	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	663					Q17RC9|Q5YKG6	Missense_Mutation	SNP	ENST00000341671.7	37	c.2069G>A	CCDS32609.1	.	.	.	.	.	.	.	.	.	.	g	0.006	-2.086943	0.00367	0.0	1.16E-4	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	T;T;T;T	0.57273	0.7;0.7;0.41;0.7	2.55	-5.09	0.02920	.	.	.	.	.	T	0.27524	0.0676	N	0.11724	0.165	0.09310	N	1	P;B	0.45396	0.857;0.0	B;B	0.38500	0.275;0.0	T	0.25293	-1.0136	9	0.10902	T	0.67	.	13.4556	0.61197	0.8359:0.0:0.1641:0.0	.	612;663	Q17RC9;Q96QE4	.;LR37B_HUMAN	H	581;690;612;663	ENSP00000443345:R581H;ENSP00000332536:R690H;ENSP00000378202:R612H;ENSP00000340519:R663H	ENSP00000332536:R690H	R	+	2	0	LRRC37B	27386053	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	-1.007000	0.03667	-2.529000	0.00492	-2.429000	0.00215	CGC		0.323	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		4	84	0	0	0	1	0	4	84				
MYO18B	84700	broad.mit.edu	37	22	26294277	26294277	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr22:26294277G>T	ENST00000407587.2	+	29	4844	c.4675G>T	c.(4675-4677)Ggg>Tgg	p.G1559W	CTA-125H2.2_ENST00000608921.1_RNA|MYO18B_ENST00000335473.7_Missense_Mutation_p.G1558W|CTA-125H2.2_ENST00000597614.2_RNA|CTA-125H2.2_ENST00000594542.1_RNA|CTA-125H2.2_ENST00000608115.1_RNA|CTA-125H2.2_ENST00000600269.1_RNA|CTA-125H2.2_ENST00000609809.1_RNA|CTA-125H2.2_ENST00000608257.1_RNA|CTA-125H2.2_ENST00000607895.1_RNA|CTA-125H2.2_ENST00000595102.1_RNA|CTA-125H2.2_ENST00000595093.1_RNA|CTA-125H2.2_ENST00000594856.1_RNA|CTA-125H2.2_ENST00000609157.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000599080.1_RNA|CTA-125H2.2_ENST00000609570.1_RNA|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000600903.1_RNA|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000608507.1_RNA|CTA-125H2.2_ENST00000453457.3_RNA|CTA-125H2.2_ENST00000609820.1_RNA|CTA-125H2.2_ENST00000594585.1_RNA|CTA-125H2.2_ENST00000599792.1_RNA|CTA-125H2.2_ENST00000596813.1_RNA|CTA-125H2.2_ENST00000609823.1_RNA|MYO18B_ENST00000536101.1_Missense_Mutation_p.G1558W|CTA-125H2.2_ENST00000609275.1_RNA|CTA-125H2.2_ENST00000609889.1_RNA|CTA-125H2.2_ENST00000593715.1_RNA			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1558	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CTTACAGCTTGGGGAGTTGCA	0.468																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(4672-4674)Ggg>Tgg		myosin XVIIIB							99.0	98.0	99.0					22																	26294277		1918	4123	6041	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26294277G>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.4675G>T	22.37:g.26294277G>T	ENSP00000386096:p.Gly1559Trp					CTA-125H2.2_ENST00000594856.1_RNA|CTA-125H2.2_ENST00000594585.1_RNA|CTA-125H2.2_ENST00000600903.1_RNA|CTA-125H2.2_ENST00000595102.1_RNA|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000453457.2_RNA|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000599080.1_RNA|MYO18B_ENST00000407587.2_Missense_Mutation_p.G1559W|CTA-125H2.2_ENST00000600211.1_RNA|MYO18B_ENST00000536101.1_Missense_Mutation_p.G1558W|CTA-125H2.2_ENST00000599792.1_RNA|CTA-125H2.2_ENST00000600269.1_RNA|CTA-125H2.2_ENST00000594542.1_RNA	p.G1558W	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			29	4922	+			1558			Tail.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.4672G>T		.	.	.	.	.	.	.	.	.	.	G	11.02	1.516684	0.27123	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;T	0.86865	-2.18;-2.18;-1.22	5.9	-0.198	0.13224	.	0.527394	0.18643	N	0.135255	D	0.88738	0.6518	M	0.64997	1.995	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.991;0.995;0.998;0.998	T	0.77208	-0.2672	10	0.72032	D	0.01	.	1.7656	0.03001	0.306:0.1314:0.4281:0.1345	.	1071;1558;1559;1558	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	W	1558;1558;1559	ENSP00000441229:G1558W;ENSP00000334563:G1558W;ENSP00000386096:G1559W	ENSP00000334563:G1558W	G	+	1	0	MYO18B	24624277	0.015000	0.18098	0.580000	0.28601	0.052000	0.14988	0.629000	0.24538	0.367000	0.24454	-0.857000	0.03018	GGG		0.468	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		5	63	1	0	0.217242	1	0.218013	5	63				
CSTF2T	23283	broad.mit.edu	37	10	53459276	53459276	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr10:53459276C>A	ENST00000331173.4	-	1	79	c.34G>T	c.(34-36)Gat>Tat	p.D12Y	PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	12					mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		AGTGATCGATCCATTGCCGGG	0.522																																						ENST00000331173.4																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(34-36)Gat>Tat		cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant							104.0	106.0	105.0					10																	53459276		2201	4297	6498	SO:0001583	missense	23283				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr10:53459276C>A	AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.34G>T	10.37:g.53459276C>A	ENSP00000332444:p.Asp12Tyr					PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron	p.D12Y	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN		COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)	1	79	-			12					B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	ENST00000331173.4	37	c.34G>T	CCDS7245.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863914	0.71949	.	.	ENSG00000177613	ENST00000331173	T	0.74947	-0.89	5.0	5.0	0.66597	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.80385	0.4613	L	0.38733	1.17	0.80722	D	1	D	0.69078	0.997	D	0.71184	0.972	T	0.82008	-0.0670	10	0.87932	D	0	-10.4001	16.1932	0.82005	0.0:1.0:0.0:0.0	.	12	Q9H0L4	CSTFT_HUMAN	Y	12	ENSP00000332444:D12Y	ENSP00000332444:D12Y	D	-	1	0	CSTF2T	53129282	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.895000	0.63214	2.773000	0.95371	0.585000	0.79938	GAT		0.522	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1	NM_015235		14	168	1	0	3.32936e-07	1	3.70948e-07	14	168				
YKT6	10652	broad.mit.edu	37	7	44251862	44251862	+	Nonsense_Mutation	SNP	C	C	G			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr7:44251862C>G	ENST00000223369.2	+	7	665	c.578C>G	c.(577-579)tCa>tGa	p.S193*	YKT6_ENST00000496112.1_Nonsense_Mutation_p.S159*|YKT6_ENST00000447123.1_3'UTR	NM_006555.3	NP_006546.1	O15498	YKT6_HUMAN	YKT6 v-SNARE homolog (S. cerevisiae)	193	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				ER to Golgi vesicle-mediated transport (GO:0006888)|metabolic process (GO:0008152)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle docking involved in exocytosis (GO:0006904)|vesicle targeting (GO:0006903)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|SNARE complex (GO:0031201)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						AAACAAAACTCATGCTGTGCC	0.542																																						ENST00000223369.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						c.(577-579)tCa>tGa		YKT6 v-SNARE homolog (S. cerevisiae)							161.0	174.0	170.0					7																	44251862		2203	4300	6503	SO:0001587	stop_gained	10652				ER to Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi|vesicle docking involved in exocytosis|vesicle targeting	cytoplasmic vesicle membrane|cytosol|endoplasmic reticulum|endosome|Golgi membrane|integral to plasma membrane|mitochondrion|SNARE complex	protein-cysteine S-palmitoleyltransferase activity|SNAP receptor activity	g.chr7:44251862C>G	BC007319	CCDS5482.1	7p13	2006-07-07			ENSG00000106636	ENSG00000106636			16959	protein-coding gene	gene with protein product	"""R-SNARE"""	606209				15479160, 15544955	Standard	NM_006555		Approved		uc003tkm.3	O15498	OTTHUMG00000129089	ENST00000223369.2:c.578C>G	7.37:g.44251862C>G	ENSP00000223369:p.Ser193*					YKT6_ENST00000447123.1_3'UTR|YKT6_ENST00000496112.1_Nonsense_Mutation_p.S159*	p.S193*	NM_006555.3	NP_006546.1	O15498	YKT6_HUMAN			7	665	+			193			v-SNARE coiled-coil homology.		B4DR94|Q53F01|Q6FGU9|Q6IB15	Nonsense_Mutation	SNP	ENST00000223369.2	37	c.578C>G	CCDS5482.1	.	.	.	.	.	.	.	.	.	.	C	38	6.909463	0.97928	.	.	ENSG00000106636	ENST00000496112;ENST00000223369	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.6262	19.6313	0.95704	0.0:1.0:0.0:0.0	.	.	.	.	X	159;193	.	ENSP00000223369:S193X	S	+	2	0	YKT6	44218387	1.000000	0.71417	0.965000	0.40720	0.976000	0.68499	6.897000	0.75671	2.937000	0.99478	0.650000	0.86243	TCA		0.542	YKT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251125.2	NM_006555		15	249	0	0	0	1	0	15	249				
SH3BP2	6452	broad.mit.edu	37	4	2831387	2831387	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr4:2831387G>A	ENST00000356331.5	+	8	1015	c.754G>A	c.(754-756)Gag>Aag	p.E252K	SH3BP2_ENST00000452765.2_Missense_Mutation_p.E252K|SH3BP2_ENST00000442312.2_Missense_Mutation_p.E280K|SH3BP2_ENST00000515183.1_3'UTR|SH3BP2_ENST00000435136.2_Missense_Mutation_p.E252K|SH3BP2_ENST00000503393.2_Missense_Mutation_p.E309K|SH3BP2_ENST00000511747.1_Missense_Mutation_p.E252K	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	252					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)		SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		CCTGGCTGCTGAGGACTCCAA	0.677									Cherubism																													ENST00000356331.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20						c.(754-756)Gag>Aag		SH3-domain binding protein 2							40.0	45.0	43.0					4																	2831387		2203	4300	6503	SO:0001583	missense	6452	Cherubism	Familial Cancer Database	Familial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic Disease	signal transduction		SH3 domain binding|SH3/SH2 adaptor activity	g.chr4:2831387G>A	BC022996	CCDS33944.1, CCDS54715.1, CCDS54716.1	4p16.3	2013-02-14				ENSG00000087266		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	10825	protein-coding gene	gene with protein product		602104	"""Cherubism"""			9299232, 11381256	Standard	NM_003023		Approved	RES4-23, CRBM	uc003gfj.4	P78314		ENST00000356331.5:c.754G>A	4.37:g.2831387G>A	ENSP00000348685:p.Glu252Lys					SH3BP2_ENST00000511747.1_Missense_Mutation_p.E252K|SH3BP2_ENST00000452765.2_Missense_Mutation_p.E252K|SH3BP2_ENST00000435136.2_Missense_Mutation_p.E252K|SH3BP2_ENST00000442312.2_Missense_Mutation_p.E280K|SH3BP2_ENST00000503393.2_Missense_Mutation_p.E309K|SH3BP2_ENST00000515183.1_3'UTR	p.E252K	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.164)	8	1015	+			252					A6NNC2|B2R5R6|B4DT04|D3DVR0|D6R919|O00500|O15373|P78315	Missense_Mutation	SNP	ENST00000356331.5	37	c.754G>A	CCDS33944.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321469	0.41096	.	.	ENSG00000087266	ENST00000452765;ENST00000442312;ENST00000435136;ENST00000511747;ENST00000503393;ENST00000356331	D;D;D;D;D;D	0.95482	-3.72;-3.72;-3.72;-3.72;-3.72;-3.72	5.13	5.13	0.70059	.	0.766363	0.12789	N	0.439013	D	0.95573	0.8561	L	0.60455	1.87	0.80722	D	1	P;P;D;P;P	0.59767	0.605;0.953;0.986;0.877;0.682	B;P;P;B;B	0.53912	0.185;0.551;0.737;0.257;0.129	D	0.92870	0.6313	10	0.07813	T	0.8	-23.7804	17.1553	0.86790	0.0:0.0:1.0:0.0	.	280;227;227;309;252	B4DT04;Q6ZVU3;Q6ZTK4;D6R919;P78314	.;.;.;.;3BP2_HUMAN	K	252;280;252;252;309;252	ENSP00000409746:E252K;ENSP00000388152:E280K;ENSP00000403231:E252K;ENSP00000424846:E252K;ENSP00000422168:E309K;ENSP00000348685:E252K	ENSP00000348685:E252K	E	+	1	0	SH3BP2	2801185	1.000000	0.71417	0.281000	0.24762	0.075000	0.17131	5.962000	0.70364	2.411000	0.81874	0.655000	0.94253	GAG		0.677	SH3BP2-007	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362406.2	NM_003023		6	49	0	0	0	1	0	6	49				
MASP1	5648	broad.mit.edu	37	3	186971086	186971086	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr3:186971086T>G	ENST00000337774.5	-	6	1151	c.762A>C	c.(760-762)aaA>aaC	p.K254N	MASP1_ENST00000296280.6_Missense_Mutation_p.K254N|MASP1_ENST00000169293.6_Missense_Mutation_p.K254N|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392472.2_Missense_Mutation_p.K141N|MASP1_ENST00000392470.2_Missense_Mutation_p.K228N	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	254	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.|Interaction with FCN2.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.K254N(2)|p.K254K(2)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GCCCCAAAACTTTTGGACCAA	0.498																																						ENST00000337774.5																			4	Substitution - Missense(2)|Substitution - coding silent(2)	p.K254N(2)|p.K254K(2)	large_intestine(2)|prostate(2)	NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60						c.(760-762)aaA>aaC		mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)							139.0	156.0	150.0					3																	186971086		2203	4300	6503	SO:0001583	missense	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186971086T>G	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.762A>C	3.37:g.186971086T>G	ENSP00000336792:p.Lys254Asn					MASP1_ENST00000296280.6_Missense_Mutation_p.K254N|MASP1_ENST00000169293.6_Missense_Mutation_p.K254N|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392470.2_Missense_Mutation_p.K228N|MASP1_ENST00000392472.2_Missense_Mutation_p.K141N	p.K254N	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	6	1151	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		254			CUB 2.|Interaction with FCN2.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	c.762A>C	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.177640	0.38413	.	.	ENSG00000127241	ENST00000337774;ENST00000296280;ENST00000392472;ENST00000541896;ENST00000169293;ENST00000392470	T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62	5.63	-7.61	0.01299	CUB (5);	0.412203	0.29537	N	0.011880	T	0.12860	0.0312	N	0.26092	0.79	0.09310	N	0.999999	B;B;B;B;B	0.18166	0.002;0.002;0.0;0.001;0.026	B;B;B;B;B	0.17433	0.003;0.007;0.004;0.004;0.018	T	0.05920	-1.0856	10	0.59425	D	0.04	.	2.6917	0.05122	0.4128:0.0662:0.2909:0.2301	.	228;254;141;254;254	F8W876;P48740-3;P48740-4;P48740-2;P48740	.;.;.;.;MASP1_HUMAN	N	254;254;141;141;254;228	ENSP00000336792:K254N;ENSP00000296280:K254N;ENSP00000376264:K141N;ENSP00000169293:K254N;ENSP00000376262:K228N	ENSP00000169293:K254N	K	-	3	2	MASP1	188453780	0.010000	0.17322	0.000000	0.03702	0.191000	0.23601	0.567000	0.23608	-0.934000	0.03733	-0.313000	0.08912	AAA		0.498	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		21	230	0	0	0	1	0	21	230				
PRPF4	9128	broad.mit.edu	37	9	116048543	116048543	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr9:116048543G>A	ENST00000374198.4	+	8	886	c.784G>A	c.(784-786)Gat>Aat	p.D262N	PRPF4_ENST00000374199.4_Missense_Mutation_p.D261N	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	262					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GTCTGTTCCTGATTGCAACCT	0.443																																						ENST00000374199.4																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						c.(781-783)Gat>Aat		pre-mRNA processing factor 4							252.0	235.0	241.0					9																	116048543		2203	4300	6503	SO:0001583	missense	9128					Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding	g.chr9:116048543G>A	AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"""WD repeat domain containing"""	17349	protein-coding gene	gene with protein product	"""PRP4/STK/WD splicing factor"", ""U4/U6 small nuclear ribonucleoprotein Prp4"""	607795	"""PRP4 pre-mRNA processing factor 4 homolog (yeast)"""			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.784G>A	9.37:g.116048543G>A	ENSP00000363313:p.Asp262Asn					PRPF4_ENST00000374198.4_Missense_Mutation_p.D262N	p.D261N			O43172	PRP4_HUMAN			8	1182	+			262					O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Missense_Mutation	SNP	ENST00000374198.4	37	c.781G>A	CCDS6791.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631024	0.87660	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	T;T	0.80824	-1.42;-1.42	6.17	6.17	0.99709	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78059	0.4224	L	0.42581	1.335	0.80722	D	1	P;P	0.43885	0.82;0.559	B;B	0.41174	0.349;0.161	T	0.76487	-0.2941	10	0.38643	T	0.18	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	277;262	Q59EL4;O43172	.;PRP4_HUMAN	N	261;262	ENSP00000363315:D261N;ENSP00000363313:D262N	ENSP00000363313:D262N	D	+	1	0	PRPF4	115088364	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.110000	0.94302	2.941000	0.99782	0.655000	0.94253	GAT		0.443	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053708.2	NM_004697		12	143	0	0	0	1	0	12	143				
MLXIP	22877	broad.mit.edu	37	12	122625503	122625503	+	Silent	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr12:122625503C>T	ENST00000319080.7	+	16	2643	c.2511C>T	c.(2509-2511)ttC>ttT	p.F837F	MLXIP_ENST00000538698.1_Silent_p.F444F					MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CACTGCAGTTCAGCATCATCA	0.607																																					Esophageal Squamous(105;787 1493 16200 18566 52466)	ENST00000319080.6																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20						c.(2509-2511)ttC>ttT		MLX interacting protein							102.0	106.0	105.0					12																	122625503		2134	4259	6393	SO:0001819	synonymous_variant	22877				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	g.chr12:122625503C>T	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"""Basic helix-loop-helix proteins"""	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.2511C>T	12.37:g.122625503C>T						MLXIP_ENST00000538698.1_Silent_p.F444F	p.F837F			Q9HAP2	MLXIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)	16	2643	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)	837			Mediates heterotypic interactions between MLXIP and MLX and is required for cytoplasmic localization.			Silent	SNP	ENST00000319080.7	37	c.2511C>T																																																																																					0.607	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		18	79	0	0	0	1	0	18	79				
ATP11C	286410	broad.mit.edu	37	X	138820219	138820219	+	Silent	SNP	G	G	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chrX:138820219G>C	ENST00000327569.3	-	28	3251	c.3153C>G	c.(3151-3153)ctC>ctG	p.L1051L	ATP11C_ENST00000361648.2_Silent_p.L1051L|ATP11C_ENST00000370557.1_Silent_p.L1045L|ATP11C_ENST00000370543.1_Silent_p.L1051L|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000359686.2_Silent_p.L1051L	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	1051					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TCTGTTGCTTGAGAAAAGGCC	0.333																																						ENST00000370557.1																			0				breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.(3133-3135)ctC>ctG		ATPase, class VI, type 11C							66.0	65.0	65.0					X																	138820219		2201	4298	6499	SO:0001819	synonymous_variant	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138820219G>C	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.3153C>G	X.37:g.138820219G>C						ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370543.1_Silent_p.L1051L|ATP11C_ENST00000327569.3_Silent_p.L1051L|ATP11C_ENST00000361648.2_Silent_p.L1051L|ATP11C_ENST00000359686.2_Silent_p.L1051L	p.L1045L			Q8NB49	AT11C_HUMAN			28	4162	-	Acute lymphoblastic leukemia(192;0.000127)		1051					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Silent	SNP	ENST00000327569.3	37	c.3135C>G	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	G	4.409	0.075594	0.08485	.	.	ENSG00000101974	ENST00000433868	.	.	.	5.97	0.604	0.17547	.	.	.	.	.	T	0.53270	0.1786	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37911	-0.9685	4	.	.	.	.	6.6024	0.22707	0.2541:0.3728:0.3731:0.0	.	.	.	.	E	84	.	.	Q	-	1	0	ATP11C	138647885	0.998000	0.40836	0.989000	0.46669	0.993000	0.82548	0.450000	0.21762	-0.346000	0.08312	0.600000	0.82982	CAA		0.333	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		4	77	0	0	0	1	0	4	77				
OR13G1	441933	broad.mit.edu	37	1	247835662	247835662	+	Missense_Mutation	SNP	C	C	T	rs570053092		TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:247835662C>T	ENST00000359688.2	-	1	703	c.682G>A	c.(682-684)Gta>Ata	p.V228I	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTGCCTTCTACTGTGCGGATA	0.453													C|||	1	0.000199681	0.0	0.0014	5008	,	,		24365	0.0		0.0	False		,,,				2504	0.0					ENST00000359688.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35						c.(682-684)Gta>Ata		olfactory receptor, family 13, subfamily G, member 1							136.0	117.0	123.0					1																	247835662		2203	4300	6503	SO:0001583	missense	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247835662C>T	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.682G>A	1.37:g.247835662C>T	ENSP00000352717:p.Val228Ile					RP11-634B7.4_ENST00000449298.1_RNA	p.V228I	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	703	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		228					B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	ENST00000359688.2	37	c.682G>A	CCDS31094.1	.	.	.	.	.	.	.	.	.	.	C	5.277	0.236540	0.10023	.	.	ENSG00000197437	ENST00000359688	T	0.00115	8.71	4.2	0.2	0.15181	GPCR, rhodopsin-like superfamily (1);	0.893834	0.09370	N	0.811475	T	0.00109	0.0003	N	0.25201	0.72	0.09310	N	1	B	0.16802	0.019	B	0.22386	0.039	T	0.22277	-1.0221	10	0.66056	D	0.02	-6.8917	2.8283	0.05491	0.3398:0.3692:0.0:0.291	.	228	Q8NGZ3	O13G1_HUMAN	I	228	ENSP00000352717:V228I	ENSP00000352717:V228I	V	-	1	0	OR13G1	245902285	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-2.212000	0.01225	0.170000	0.19704	-0.261000	0.10672	GTA		0.453	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		9	91	0	0	0	1	0	9	91				
ADIG	149685	broad.mit.edu	37	20	37214687	37214687	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr20:37214687A>T	ENST00000537425.1	+	2	196	c.125A>T	c.(124-126)gAc>gTc	p.D42V		NM_001018082.1	NP_001018092.1			adipogenin											endometrium(1)|kidney(1)	2		Myeloproliferative disorder(115;0.00878)				GAGGAAAATGACTCCAGTGTG	0.587																																						ENST00000537425.1																			0				endometrium(1)|kidney(1)	2						c.(124-126)gAc>gTc		adipogenin							39.0	43.0	42.0					20																	37214687		1981	4158	6139	SO:0001583	missense	149685				brown fat cell differentiation|positive regulation of fat cell differentiation|white fat cell differentiation	cytoplasm|integral to membrane|nucleus		g.chr20:37214687A>T	BC029594	CCDS54461.1	20q11.23	2014-02-12	2007-03-29		ENSG00000182035	ENSG00000182035			28606	protein-coding gene	gene with protein product	"""small adipocyte factor 1"""	611396	"""adipogenesis associated"""			15567149, 16132694	Standard	NM_001018082		Approved	MGC39724, SMAF1, RP5-1100H13.2	uc002xjb.1	Q0VDE8	OTTHUMG00000032451	ENST00000537425.1:c.125A>T	20.37:g.37214687A>T	ENSP00000440331:p.Asp42Val						p.D42V	NM_001018082.1	NP_001018092.1	Q0VDE8	ADIG_HUMAN			2	196	+		Myeloproliferative disorder(115;0.00878)	47						Missense_Mutation	SNP	ENST00000537425.1	37	c.125A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.23|15.23	2.770464|2.770464	0.49680|0.49680	.|.	.|.	ENSG00000182035|ENSG00000182035	ENST00000537425|ENST00000416116	.|.	.|.	.|.	3.98|3.98	-1.73|-1.73	0.08081|0.08081	.|.	0.514813|.	0.14421|.	N|.	0.320698|.	T|T	0.18173|0.18173	0.0436|0.0436	.|.	.|.	.|.	0.18873|0.18873	N|N	0.999985|0.999985	B|.	0.09022|.	0.002|.	B|.	0.08055|.	0.003|.	T|T	0.23119|0.23119	-1.0197|-1.0197	8|4	0.87932|.	D|.	0|.	-3.5218|-3.5218	0.7516|0.7516	0.00991|0.00991	0.3871:0.1731:0.1037:0.3361|0.3871:0.1731:0.1037:0.3361	.|.	47|.	Q0VDE8|.	ADIG_HUMAN|.	V|S	42|29	.|.	ENSP00000434385:D47V|.	D|T	+|+	2|1	0|0	ADIG|ADIG	36648101|36648101	0.039000|0.039000	0.19947|0.19947	0.005000|0.005000	0.12908|0.12908	0.205000|0.205000	0.24178|0.24178	0.014000|0.014000	0.13333|0.13333	-0.462000|-0.462000	0.06984|0.06984	0.379000|0.379000	0.24179|0.24179	GAC|ACT		0.587	ADIG-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001018082		6	15	0	0	0	1	0	6	15				
APLP1	333	broad.mit.edu	37	19	36370086	36370086	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr19:36370086G>C	ENST00000221891.4	+	16	2016	c.1824G>C	c.(1822-1824)aaG>aaC	p.K608N	RN7SL402P_ENST00000465059.1_RNA|APLP1_ENST00000586861.1_Missense_Mutation_p.K601N|APLP1_ENST00000537454.2_Missense_Mutation_p.K568N	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	607					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCAGGAAGAAGCCCTACGGGG	0.652																																						ENST00000221891.4																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(1822-1824)aaG>aaC		amyloid beta (A4) precursor-like protein 1							59.0	61.0	60.0					19																	36370086		2203	4300	6503	SO:0001583	missense	333				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	g.chr19:36370086G>C	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.1824G>C	19.37:g.36370086G>C	ENSP00000221891:p.Lys608Asn					APLP1_ENST00000586861.1_Missense_Mutation_p.K601N|APLP1_ENST00000537454.2_Missense_Mutation_p.K568N	p.K608N	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		16	2016	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		607					O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	c.1824G>C	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900452	0.72754	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	D;D	0.96491	-4.03;-4.03	5.34	-0.408	0.12381	Beta-amyloid precursor protein C-terminal (1);	0.618193	0.13631	N	0.373689	D	0.92018	0.7471	N	0.02539	-0.55	0.47511	D	0.999448	P;D;D;D	0.69078	0.801;0.995;0.997;0.997	P;P;P;D	0.63793	0.598;0.908;0.9;0.918	D	0.87595	0.2493	10	0.49607	T	0.09	-24.5209	7.4992	0.27507	0.4673:0.0:0.5327:0.0	.	601;568;608;607	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	N	568;608	ENSP00000441501:K568N;ENSP00000221891:K608N	ENSP00000221891:K608N	K	+	3	2	APLP1	41061926	1.000000	0.71417	0.998000	0.56505	0.931000	0.56810	3.009000	0.49552	0.229000	0.21039	-0.136000	0.14681	AAG		0.652	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		5	79	0	0	0	1	0	5	79				
PCDH20	64881	broad.mit.edu	37	13	61986156	61986156	+	Silent	SNP	A	A	G			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr13:61986156A>G	ENST00000409186.1	-	5	4181	c.2076T>C	c.(2074-2076)ggT>ggC	p.G692G	PCDH20_ENST00000409204.4_Silent_p.G692G			Q8N6Y1	PCD20_HUMAN	protocadherin 20	692	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CCCTCAGCATACCCTTTCCTG	0.488																																						ENST00000409186.1																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(2074-2076)ggT>ggC		protocadherin 20							87.0	92.0	91.0					13																	61986156		2203	4300	6503	SO:0001819	synonymous_variant	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61986156A>G	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.2076T>C	13.37:g.61986156A>G						PCDH20_ENST00000409204.4_Silent_p.G692G	p.G692G			Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	5	4181	-		Breast(118;0.195)|Prostate(109;0.229)	665			Cadherin 5.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Silent	SNP	ENST00000409186.1	37	c.2076T>C	CCDS9442.2																																																																																				0.488	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		24	79	0	0	0	1	0	24	79				
DST	667	broad.mit.edu	37	6	56504321	56504321	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr6:56504321T>C	ENST00000361203.3	-	17	2160	c.2153A>G	c.(2152-2154)aAa>aGa	p.K718R	DST_ENST00000312431.6_Missense_Mutation_p.K718R|DST_ENST00000518935.1_Missense_Mutation_p.K392R|DST_ENST00000370765.6_Missense_Mutation_p.K392R|DST_ENST00000370788.2_Missense_Mutation_p.K718R|DST_ENST00000370769.4_Missense_Mutation_p.K718R|DST_ENST00000421834.2_Missense_Mutation_p.K718R|DST_ENST00000370754.5_Missense_Mutation_p.K896R|DST_ENST00000244364.6_Missense_Mutation_p.K392R|DST_ENST00000446842.2_Missense_Mutation_p.K392R			Q03001	DYST_HUMAN	dystonin	718					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTCCTCTTCTTTTTCATTCAA	0.378																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(2686-2688)aAa>aGa		dystonin							111.0	113.0	112.0					6																	56504321		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56504321T>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.2153A>G	6.37:g.56504321T>C	ENSP00000354508:p.Lys718Arg					DST_ENST00000370765.6_Missense_Mutation_p.K392R|DST_ENST00000312431.6_Missense_Mutation_p.K718R|DST_ENST00000370769.4_Missense_Mutation_p.K718R|DST_ENST00000361203.3_Missense_Mutation_p.K718R|DST_ENST00000370788.2_Missense_Mutation_p.K718R|DST_ENST00000518935.1_Missense_Mutation_p.K392R|DST_ENST00000421834.2_Missense_Mutation_p.K718R|DST_ENST00000446842.2_Missense_Mutation_p.K392R|DST_ENST00000244364.6_Missense_Mutation_p.K392R	p.K896R			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		20	2686	-	Lung NSC(77;0.103)		718			SH3.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.2687A>G		.	.	.	.	.	.	.	.	.	.	T	18.65	3.670444	0.67814	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	D;D;D;D;D;D;D;D;D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28;-3.28;-3.28;-3.28;-3.28;-3.28;-3.28;-3.28;-3.28	5.34	5.34	0.76211	.	0.000000	0.53938	D	0.000048	D	0.92593	0.7647	L	0.28776	0.89	0.30112	N	0.806494	D;B;D;B;D;B;P;P;B;P	0.69078	0.995;0.191;0.977;0.377;0.997;0.097;0.486;0.874;0.099;0.462	D;B;P;B;D;B;P;P;B;B	0.74348	0.962;0.078;0.711;0.112;0.983;0.202;0.489;0.842;0.021;0.391	D	0.92722	0.6192	9	0.38643	T	0.18	.	15.4821	0.75537	0.0:0.0:0.0:1.0	.	747;718;718;896;834;392;392;392;718;392	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	R	392;896;718;718;392;718;718;718;392;758;392;392	ENSP00000244364:K392R;ENSP00000359790:K896R;ENSP00000359805:K718R;ENSP00000400883:K718R;ENSP00000393645:K392R;ENSP00000307959:K718R;ENSP00000359824:K718R;ENSP00000354508:K718R;ENSP00000404924:K392R;ENSP00000431030:K758R;ENSP00000359801:K392R;ENSP00000431003:K392R	ENSP00000244364:K392R	K	-	2	0	DST	56612280	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.868000	0.87116	2.244000	0.73946	0.528000	0.53228	AAA		0.378	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		39	116	0	0	0	1	0	39	116				
ATRX	546	broad.mit.edu	37	X	76872081	76872081	+	Splice_Site	SNP	C	C	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chrX:76872081C>A	ENST00000373344.5	-	22	5780	c.5566G>T	c.(5566-5568)Ggt>Tgt	p.G1856C	ATRX_ENST00000395603.3_Splice_Site_p.G1818C|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1856					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TATTGTTTACCTGTTAAGTGA	0.323			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.e22+1		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						126.0	115.0	119.0					X																	76872081		2203	4293	6496	SO:0001630	splice_region_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76872081C>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5566+1G>T	X.37:g.76872081C>A						ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Splice_Site_p.G1818_splice	p.G1856_splice	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			22	5780	-			1856					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP	ENST00000373344.5	37	c.5566_splice	CCDS14434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.94|15.94	2.981336|2.981336	0.53827|0.53827	.|.	.|.	ENSG00000085224|ENSG00000085224	ENST00000373344;ENST00000395603|ENST00000400866	D;D|.	0.93189|.	-3.18;-3.18|.	5.32|5.32	5.32|5.32	0.75619|0.75619	SNF2-related (1);|.	0.153741|.	0.43416|.	U|.	0.000576|.	T|T	0.71187|0.71187	0.3310|0.3310	L|L	0.55743|0.55743	1.74|1.74	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.992|.	T|T	0.68723|0.68723	-0.5333|-0.5333	9|5	.|.	.|.	.|.	-8.3397|-8.3397	18.3098|18.3098	0.90195|0.90195	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1818;1856|.	P46100-4;P46100|.	.;ATRX_HUMAN|.	C|H	1856;1818|144	ENSP00000362441:G1856C;ENSP00000378967:G1818C|.	.|.	G|Q	-|-	1|3	0|2	ATRX|ATRX	76758737|76758737	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.959000|0.959000	0.62525|0.62525	7.421000|7.421000	0.80204|0.80204	2.350000|2.350000	0.79820|0.79820	0.544000|0.544000	0.68410|0.68410	GGT|CAG		0.323	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Missense_Mutation	19	231	1	0	5.26018e-13	1	6.05134e-13	19	231				
CFAP69	79846	broad.mit.edu	37	7	89891339	89891339	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr7:89891339G>A	ENST00000389297.4	+	4	576	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	C7orf63_ENST00000316089.8_Missense_Mutation_p.E109K|C7orf63_ENST00000463311.1_3'UTR|C7orf63_ENST00000497910.1_Missense_Mutation_p.E109K	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		109										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TCGTTTTATAGAATCTGCATA	0.264																																						ENST00000389297.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						c.(325-327)Gaa>Aaa		chromosome 7 open reading frame 63							46.0	49.0	48.0					7																	89891339		1781	4053	5834	SO:0001583	missense	79846						binding	g.chr7:89891339G>A																												ENST00000389297.4:c.325G>A	7.37:g.89891339G>A	ENSP00000373948:p.Glu109Lys					C7orf63_ENST00000316089.8_Missense_Mutation_p.E109K|C7orf63_ENST00000463311.1_3'UTR|C7orf63_ENST00000497910.1_Missense_Mutation_p.E109K	p.E109K	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN			4	576	+			109					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	c.325G>A	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922113	0.52653	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000457170	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	4.83	4.83	0.62350	.	0.445650	0.24150	N	0.041086	T	0.42562	0.1208	M	0.67953	2.075	0.34597	D	0.716148	B;P;D	0.65815	0.168;0.728;0.995	B;B;P	0.59487	0.108;0.346;0.858	T	0.53129	-0.8482	10	0.49607	T	0.09	-14.9549	18.4594	0.90734	0.0:0.0:1.0:0.0	.	109;109;109	A5D8W1-5;A5D8W1;A5D8W1-4	.;CG063_HUMAN;.	K	109;109;109;49	ENSP00000373948:E109K;ENSP00000321753:E109K;ENSP00000419549:E109K;ENSP00000392365:E49K	ENSP00000321753:E109K	E	+	1	0	C7orf63	89729275	0.994000	0.37717	0.831000	0.32960	0.651000	0.38670	2.991000	0.49409	2.663000	0.90544	0.655000	0.94253	GAA		0.264	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			8	143	0	0	0	1	0	8	143				
AGTPBP1	23287	broad.mit.edu	37	9	88307720	88307720	+	Missense_Mutation	SNP	T	T	C	rs145337179	byFrequency	TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr9:88307720T>C	ENST00000357081.3	-	3	185	c.41A>G	c.(40-42)aAt>aGt	p.N14S	AGTPBP1_ENST00000376081.4_Missense_Mutation_p.N14S|AGTPBP1_ENST00000376080.1_5'Flank|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.N14S|AGTPBP1_ENST00000491784.1_5'Flank|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.N66S|AGTPBP1_ENST00000337006.4_5'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	14					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						CCTAGAATTATTGGTAAGGCT	0.363													T|||	2	0.000399361	0.0	0.0	5008	,	,		17268	0.0		0.002	False		,,,				2504	0.0					ENST00000357081.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						c.(40-42)aAt>aGt		ATP/GTP binding protein 1		T	SER/ASN	1,4405	2.1+/-5.4	0,1,2202	98.0	89.0	92.0		41	0.5	1.0	9	dbSNP_134	92	17,8583	12.6+/-44.7	0,17,4283	yes	missense	AGTPBP1	NM_015239.2	46	0,18,6485	CC,CT,TT		0.1977,0.0227,0.1384	benign	14/1187	88307720	18,12988	2203	4300	6503	SO:0001583	missense	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88307720T>C	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.41A>G	9.37:g.88307720T>C	ENSP00000349592:p.Asn14Ser					AGTPBP1_ENST00000376083.3_Missense_Mutation_p.N14S|AGTPBP1_ENST00000376081.4_Missense_Mutation_p.N14S|AGTPBP1_ENST00000337006.4_5'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.N66S	p.N14S			Q9UPW5	CBPC1_HUMAN			3	185	-			14					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37	c.41A>G		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	8.054	0.766631	0.15983	2.27E-4	0.001977	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109;ENST00000376081	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	4.65	0.461	0.16689	.	0.276878	0.39759	N	0.001278	T	0.23926	0.0579	N	0.22421	0.69	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.13407	0.004;0.009;0.002	T	0.06534	-1.0821	10	0.19147	T	0.46	-16.9019	9.1549	0.36988	0.0:0.2717:0.0:0.7283	.	66;14;14	Q9UPW5-3;Q9UPW5;Q9UPW5-2	.;CBPC1_HUMAN;.	S	14;14;66;14	ENSP00000349592:N14S;ENSP00000365251:N14S;ENSP00000365277:N66S;ENSP00000365249:N14S	ENSP00000349592:N14S	N	-	2	0	AGTPBP1	87497540	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	0.793000	0.26944	0.174000	0.19809	-0.379000	0.06801	AAT		0.363	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		10	45	0	0	0	1	0	10	45				
TM6SF2	53345	broad.mit.edu	37	19	19377413	19377413	+	Silent	SNP	C	C	G			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr19:19377413C>G	ENST00000389363.4	-	9	882	c.810G>C	c.(808-810)ctG>ctC	p.L270L	AC138430.4_ENST00000586064.2_RNA|TM6SF2_ENST00000586107.1_5'Flank	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	270						integral component of membrane (GO:0016021)				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			ACATGTACATCAGCATCTGCA	0.607																																						ENST00000389363.4																			0				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14						c.(808-810)ctG>ctC		transmembrane 6 superfamily member 2							42.0	50.0	48.0					19																	19377413		2108	4228	6336	SO:0001819	synonymous_variant	53345					integral to membrane		g.chr19:19377413C>G	AF255923	CCDS42528.1	19p13.3-p12	2008-02-05							11861	protein-coding gene	gene with protein product		606563				11124529	Standard	NM_001001524		Approved	Lpr4	uc002nmd.1	Q9BZW4		ENST00000389363.4:c.810G>C	19.37:g.19377413C>G						AC138430.4_ENST00000586064.2_RNA	p.L270L	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	Epithelial(12;0.0151)		9	882	-			270					Q0IJ64	Silent	SNP	ENST00000389363.4	37	c.810G>C	CCDS42528.1																																																																																				0.607	TM6SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460122.2	NM_203510		5	23	0	0	0	1	0	5	23				
AKAP6	9472	broad.mit.edu	37	14	33015613	33015613	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr14:33015613C>G	ENST00000280979.4	+	4	1924	c.1754C>G	c.(1753-1755)tCt>tGt	p.S585C	AKAP6_ENST00000557272.1_Missense_Mutation_p.S585C|AKAP6_ENST00000557354.1_Missense_Mutation_p.S585C	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	585					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGTGAATCCTCTGTTGGCTCA	0.448																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(1753-1755)tCt>tGt		A kinase (PRKA) anchor protein 6							107.0	112.0	110.0					14																	33015613		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33015613C>G	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.1754C>G	14.37:g.33015613C>G	ENSP00000280979:p.Ser585Cys					AKAP6_ENST00000557272.1_Missense_Mutation_p.S585C|AKAP6_ENST00000557354.1_Missense_Mutation_p.S585C	p.S585C	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	4	1924	+	Breast(36;0.0388)|Prostate(35;0.15)		585					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.1754C>G	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908630	0.33721	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272;ENST00000553547	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	6.11	3.97	0.46021	.	0.684046	0.14624	N	0.308228	T	0.50274	0.1606	L	0.54323	1.7	0.09310	N	1	D;D	0.57257	0.979;0.979	B;B	0.43155	0.41;0.41	T	0.48969	-0.8987	10	0.72032	D	0.01	3.0E-4	12.7159	0.57115	0.0:0.8492:0.0:0.1508	.	585;585	A7E242;Q13023	.;AKAP6_HUMAN	C	585;585;585;343	ENSP00000280979:S585C;ENSP00000450531:S585C;ENSP00000451247:S585C;ENSP00000451239:S343C	ENSP00000280979:S585C	S	+	2	0	AKAP6	32085364	0.141000	0.22595	0.008000	0.14137	0.981000	0.71138	3.050000	0.49877	1.572000	0.49736	0.655000	0.94253	TCT		0.448	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		21	99	0	0	0	1	0	21	99				
UNC13B	10497	broad.mit.edu	37	9	35243359	35243359	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr9:35243359G>C	ENST00000378495.3	+	6	688	c.466G>C	c.(466-468)Gag>Cag	p.E156Q	UNC13B_ENST00000396787.1_Missense_Mutation_p.E156Q|UNC13B_ENST00000378496.4_Missense_Mutation_p.E156Q	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	156					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			AGCTGACAATGAGGTAGGAGC	0.448																																						ENST00000378495.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(466-468)Gag>Cag		unc-13 homolog B (C. elegans)							110.0	109.0	109.0					9																	35243359		2203	4300	6503	SO:0001583	missense	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35243359G>C	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.466G>C	9.37:g.35243359G>C	ENSP00000367756:p.Glu156Gln					UNC13B_ENST00000396787.1_Missense_Mutation_p.E156Q|UNC13B_ENST00000378496.4_Missense_Mutation_p.E156Q	p.E156Q	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		6	688	+	all_epithelial(49;0.212)		156					Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	c.466G>C	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723078	0.68959	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496	D;T;T	0.84516	-1.86;0.91;0.91	4.61	4.61	0.57282	.	0.210280	0.40302	N	0.001139	D	0.90068	0.6898	L	0.59436	1.845	0.53688	D	0.99997	B;D;D	0.59767	0.024;0.986;0.981	B;D;D	0.67900	0.012;0.936;0.954	D	0.89676	0.3887	10	0.42905	T	0.14	-9.4288	16.6239	0.84937	0.0:0.0:1.0:0.0	.	156;156;156	Q2NKJ5;F8W8M9;O14795	.;.;UN13B_HUMAN	Q	156	ENSP00000380006:E156Q;ENSP00000367756:E156Q;ENSP00000367757:E156Q	ENSP00000367756:E156Q	E	+	1	0	UNC13B	35233359	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	8.885000	0.92439	2.391000	0.81399	0.655000	0.94253	GAG		0.448	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		10	81	0	0	0	1	0	10	81				
EPHA5	2044	broad.mit.edu	37	4	66467891	66467891	+	Silent	SNP	G	G	A	rs55882537		TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr4:66467891G>A	ENST00000273854.3	-	3	978	c.378C>T	c.(376-378)atC>atT	p.I126I	EPHA5_ENST00000511294.1_Silent_p.I126I|EPHA5_ENST00000354839.4_Silent_p.I126I|EPHA5_ENST00000432638.2_Silent_p.I126I	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	126	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GTTCTATGAAGATTCTGGAAG	0.438										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(376-378)atC>atT		EPH receptor A5							95.0	100.0	98.0					4																	66467891		2203	4300	6503	SO:0001819	synonymous_variant	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66467891G>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.378C>T	4.37:g.66467891G>A		TSP Lung(17;0.13)				EPHA5_ENST00000432638.2_Silent_p.I126I|EPHA5_ENST00000511294.1_Silent_p.I126I|EPHA5_ENST00000354839.4_Silent_p.I126I	p.I126I	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			3	978	-			126					Q7Z3F2	Silent	SNP	ENST00000273854.3	37	c.378C>T	CCDS3513.1																																																																																				0.438	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		8	127	0	0	0	1	0	8	127				
LAMA3	3909	broad.mit.edu	37	18	21422676	21422676	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr18:21422676G>A	ENST00000313654.9	+	29	3806	c.3565G>A	c.(3565-3567)Gca>Aca	p.A1189T	LAMA3_ENST00000399516.3_Missense_Mutation_p.A1189T	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1189	Domain IV 1 (domain IV B).				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TGAAGTGGCCGCAACTGTGAA	0.547																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(3565-3567)Gca>Aca		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						124.0	140.0	135.0					18																	21422676		2022	4181	6203	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21422676G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.3565G>A	18.37:g.21422676G>A	ENSP00000324532:p.Ala1189Thr					LAMA3_ENST00000399516.3_Missense_Mutation_p.A1189T	p.A1189T	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			29	3806	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		1189			Domain IV 1 (domain IV B).		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.3565G>A	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857902	0.32791	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.17528	2.28;2.27	5.83	4.95	0.65309	.	.	.	.	.	T	0.10766	0.0263	N	0.08118	0	0.80722	D	1	B;B	0.25486	0.127;0.103	B;B	0.14023	0.009;0.01	T	0.08371	-1.0725	9	0.52906	T	0.07	.	16.9877	0.86345	0.0:0.1275:0.8725:0.0	.	1189;1189	Q6VU67;Q16787	.;LAMA3_HUMAN	T	1189;1189;1187	ENSP00000324532:A1189T;ENSP00000382432:A1189T	ENSP00000324532:A1189T	A	+	1	0	LAMA3	19676674	0.053000	0.20554	0.859000	0.33776	0.167000	0.22549	1.117000	0.31234	1.463000	0.47967	0.655000	0.94253	GCA		0.547	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		15	94	0	0	0	1	0	15	94				
KMT2A	4297	broad.mit.edu	37	11	118363941	118363941	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:118363941C>G	ENST00000389506.5	+	16	5165	c.5165C>G	c.(5164-5166)tCt>tGt	p.S1722C	KMT2A_ENST00000534358.1_Missense_Mutation_p.S1725C|KMT2A_ENST00000354520.4_Missense_Mutation_p.S1684C			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1722	Bromo; divergent. {ECO:0000255|PROSITE- ProRule:PRU00035}.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										AATTACACATCTGTGGTATGT	0.413																																						ENST00000534358.1																			0											c.(5173-5175)tCt>tGt		lysine (K)-specific methyltransferase 2A							97.0	88.0	91.0					11																	118363941		2200	4296	6496	SO:0001583	missense	4297							g.chr11:118363941C>G	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.5165C>G	11.37:g.118363941C>G	ENSP00000374157:p.Ser1722Cys					KMT2A_ENST00000354520.4_Missense_Mutation_p.S1684C|KMT2A_ENST00000389506.5_Missense_Mutation_p.S1722C	p.S1725C	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					16	5197	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.5174C>G	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492831	0.64074	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	T;T;T	0.52295	0.67;0.67;0.67	5.54	5.54	0.83059	Bromodomain (4);	0.000000	0.85682	D	0.000000	T	0.58538	0.2129	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	T	0.63283	-0.6672	10	0.87932	D	0	.	19.4897	0.95046	0.0:1.0:0.0:0.0	.	1725;1722	E9PQG7;Q03164	.;MLL1_HUMAN	C	1725;1722;1684;632	ENSP00000436786:S1725C;ENSP00000374157:S1722C;ENSP00000346516:S1684C	ENSP00000346516:S1684C	S	+	2	0	MLL	117869151	1.000000	0.71417	0.991000	0.47740	0.888000	0.51559	7.372000	0.79612	2.599000	0.87857	0.561000	0.74099	TCT		0.413	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		10	84	0	0	0	1	0	10	84				
DIEXF	27042	broad.mit.edu	37	1	210012466	210012466	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:210012466C>G	ENST00000491415.2	+	7	1332	c.1275C>G	c.(1273-1275)ttC>ttG	p.F425L		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	425					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						ATGACCACTTCAGGATTGGTA	0.438																																						ENST00000491415.2																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						c.(1273-1275)ttC>ttG		digestive organ expansion factor homolog (zebrafish)							99.0	97.0	98.0					1																	210012466		2203	4300	6503	SO:0001583	missense	27042				multicellular organismal development	nucleus		g.chr1:210012466C>G	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.1275C>G	1.37:g.210012466C>G	ENSP00000419005:p.Phe425Leu						p.F425L	NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN			7	1332	+			425					O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	ENST00000491415.2	37	c.1275C>G	CCDS1493.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.3|25.3	4.625511|4.625511	0.87560|0.87560	.|.	.|.	ENSG00000117597|ENSG00000117597	ENST00000491415|ENST00000457820	T|.	0.75938|.	-0.98|.	5.95|5.95	0.612|0.612	0.17591|0.17591	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.80597|.	0.4653|.	H|H	0.95114|0.95114	3.625|3.625	0.58432|0.58432	D|D	0.999997|0.999997	D|.	0.64830|.	0.994|.	P|.	0.60541|.	0.876|.	T|.	0.81141|.	-0.1068|.	10|.	0.87932|.	D|.	0|.	-24.8602|-24.8602	9.2917|9.2917	0.37791|0.37791	0.0:0.6299:0.0:0.3701|0.0:0.6299:0.0:0.3701	.|.	425|.	Q68CQ4|.	DIEXF_HUMAN|.	L|X	425|106	ENSP00000419005:F425L|.	ENSP00000419005:F425L|.	F|S	+|+	3|2	2|0	DIEXF|DIEXF	208079089|208079089	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.973000|0.973000	0.67179|0.67179	1.313000|1.313000	0.33585|0.33585	0.077000|0.077000	0.16863|0.16863	-0.137000|-0.137000	0.14449|0.14449	TTC|TCA		0.438	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		14	42	0	0	0	1	0	14	42				
IL1R1	3554	broad.mit.edu	37	2	102785104	102785104	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:102785104G>C	ENST00000410023.1	+	7	1020	c.702G>C	c.(700-702)gaG>gaC	p.E234D	IL1R1_ENST00000409929.1_Missense_Mutation_p.E234D|IL1R1_ENST00000233946.3_Missense_Mutation_p.E234D|IL1R1_ENST00000409329.1_Missense_Mutation_p.E234D|IL1R1_ENST00000409288.1_Missense_Mutation_p.E234D|IL1R1_ENST00000424272.1_Missense_Mutation_p.E234D|IL1R1_ENST00000409589.1_Intron			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	234	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	CAGCTAATGAGACAATGGAAG	0.373																																						ENST00000410023.1																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19						c.(700-702)gaG>gaC		interleukin 1 receptor, type I	Anakinra(DB00026)						152.0	160.0	157.0					2																	102785104		2203	4300	6503	SO:0001583	missense	3554				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding	g.chr2:102785104G>C	M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.702G>C	2.37:g.102785104G>C	ENSP00000386380:p.Glu234Asp					IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409288.1_Missense_Mutation_p.E234D|IL1R1_ENST00000409329.1_Missense_Mutation_p.E234D|IL1R1_ENST00000424272.1_Missense_Mutation_p.E234D|IL1R1_ENST00000233946.3_Missense_Mutation_p.E234D|IL1R1_ENST00000409929.1_Missense_Mutation_p.E234D	p.E234D			P14778	IL1R1_HUMAN			7	1020	+			234			Ig-like C2-type 3.		Q587I7	Missense_Mutation	SNP	ENST00000410023.1	37	c.702G>C	CCDS2055.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.409540	0.25378	.	.	ENSG00000115594	ENST00000409929;ENST00000424272;ENST00000409329;ENST00000428279;ENST00000409288;ENST00000410023;ENST00000233946	T;T;T;T;T;T;T	0.03330	3.97;3.97;3.97;3.97;3.97;3.97;3.97	5.26	5.26	0.73747	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.712205	0.14702	N	0.303464	T	0.09512	0.0234	M	0.68317	2.08	0.35170	D	0.771508	B;B;P	0.51933	0.26;0.132;0.949	B;B;P	0.50162	0.205;0.093;0.633	T	0.12116	-1.0560	10	0.31617	T	0.26	.	12.2184	0.54420	0.0:0.0:0.8298:0.1702	.	234;234;234	B8ZZW4;P14778;B8ZZ73	.;IL1R1_HUMAN;.	D	234;234;234;90;234;234;234	ENSP00000386776:E234D;ENSP00000415366:E234D;ENSP00000387131:E234D;ENSP00000410461:E90D;ENSP00000386478:E234D;ENSP00000386380:E234D;ENSP00000233946:E234D	ENSP00000233946:E234D	E	+	3	2	IL1R1	102151536	1.000000	0.71417	1.000000	0.80357	0.170000	0.22686	1.474000	0.35398	2.840000	0.97914	0.655000	0.94253	GAG		0.373	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1			15	125	0	0	0	1	0	15	125				
IL1RAPL1	11141	broad.mit.edu	37	X	29414440	29414440	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chrX:29414440G>A	ENST00000378993.1	+	4	1101	c.428G>A	c.(427-429)tGc>tAc	p.C143Y	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.C143Y	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	143	Ig-like C2-type 2.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						ACTGGACTCTGCTATAATTCC	0.388																																						ENST00000378993.1																			0				biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(427-429)tGc>tAc		interleukin 1 receptor accessory protein-like 1							88.0	80.0	83.0					X																	29414440		2202	4300	6502	SO:0001583	missense	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29414440G>A	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.428G>A	X.37:g.29414440G>A	ENSP00000368278:p.Cys143Tyr					IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.C143Y	p.C143Y	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN			4	1101	+			143			Ig-like C2-type 2.		A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.428G>A	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.209103	0.79240	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.05717	3.4;3.4	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.28632	0.0709	M	0.83118	2.625	0.53688	D	0.999976	D	0.89917	1.0	D	0.91635	0.999	T	0.03008	-1.1083	9	.	.	.	.	16.7752	0.85549	0.0:0.0:1.0:0.0	.	143	Q9NZN1	IRPL1_HUMAN	Y	143	ENSP00000368278:C143Y;ENSP00000305200:C143Y	.	C	+	2	0	IL1RAPL1	29324361	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.388000	0.97237	2.253000	0.74438	0.513000	0.50165	TGC		0.388	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		7	101	0	0	0	1	0	7	101				
EPN3	55040	broad.mit.edu	37	17	48613940	48613940	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr17:48613940G>T	ENST00000268933.3	+	2	602	c.23G>T	c.(22-24)cGc>cTc	p.R8L	EPN3_ENST00000541226.1_5'UTR|EPN3_ENST00000537145.1_Silent_p.A90A|RP11-94C24.8_ENST00000513017.1_RNA	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	8						clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			GCACTCCGGCGCCAGGTGAAG	0.657																																						ENST00000268933.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(22-24)cGc>cTc		epsin 3							59.0	62.0	61.0					17																	48613940		2203	4300	6503	SO:0001583	missense	55040					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding	g.chr17:48613940G>T	AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.23G>T	17.37:g.48613940G>T	ENSP00000268933:p.Arg8Leu					EPN3_ENST00000537145.1_Silent_p.A90A|EPN3_ENST00000541226.1_5'UTR	p.R8L	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.88e-09)		2	602	+	Breast(11;1.23e-18)		8					A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Missense_Mutation	SNP	ENST00000268933.3	37	c.23G>T	CCDS11570.1	.	.	.	.	.	.	.	.	.	.	G	34	5.411959	0.96072	.	.	ENSG00000049283	ENST00000268933;ENST00000503246;ENST00000503690;ENST00000514874;ENST00000515126;ENST00000507467;ENST00000411703	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.16	5.16	0.70880	ENTH/VHS (1);	0.000000	0.85682	D	0.000000	T	0.72914	0.3520	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80341	-0.1423	10	0.87932	D	0	-10.1859	18.2431	0.89974	0.0:0.0:1.0:0.0	.	8	Q9H201	EPN3_HUMAN	L	8	ENSP00000268933:R8L;ENSP00000426762:R8L;ENSP00000422682:R8L;ENSP00000422601:R8L;ENSP00000421515:R8L	ENSP00000268933:R8L	R	+	2	0	EPN3	45968939	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.869000	0.99810	2.399000	0.81585	0.462000	0.41574	CGC		0.657	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	NM_017957		4	69	1	0	0.000602214	1	0.000633556	4	69				
RELN	5649	broad.mit.edu	37	7	103251214	103251214	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr7:103251214G>A	ENST00000428762.1	-	22	3095	c.2936C>T	c.(2935-2937)tCa>tTa	p.S979L	RELN_ENST00000343529.5_Missense_Mutation_p.S979L|RELN_ENST00000424685.2_Missense_Mutation_p.S979L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	979					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AATACTTGCTGATGTAAATTC	0.418																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(2935-2937)tCa>tTa		reelin							149.0	126.0	134.0					7																	103251214		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103251214G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.2936C>T	7.37:g.103251214G>A	ENSP00000392423:p.Ser979Leu					RELN_ENST00000424685.2_Missense_Mutation_p.S979L|RELN_ENST00000343529.5_Missense_Mutation_p.S979L	p.S979L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	22	3095	-			979					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.2936C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.926252	0.73327	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.23754	1.9;1.89;1.9	6.08	6.08	0.98989	.	0.138494	0.50627	D	0.000105	T	0.22589	0.0545	N	0.25647	0.755	0.45515	D	0.998472	B;B	0.24368	0.102;0.047	B;B	0.24541	0.054;0.024	T	0.02214	-1.1194	10	0.35671	T	0.21	.	18.844	0.92196	0.0:0.0:1.0:0.0	.	979;979	P78509-2;P78509	.;RELN_HUMAN	L	979	ENSP00000392423:S979L;ENSP00000345694:S979L;ENSP00000388446:S979L	ENSP00000345694:S979L	S	-	2	0	RELN	103038450	1.000000	0.71417	0.996000	0.52242	0.907000	0.53573	9.047000	0.93823	2.894000	0.99253	0.655000	0.94253	TCA		0.418	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		15	254	0	0	0	1	0	15	254				
CHDC2	286464	broad.mit.edu	37	X	36162722	36162722	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chrX:36162722T>A	ENST00000313548.4	+	11	1491	c.1305T>A	c.(1303-1305)agT>agA	p.S435R		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	435	CH.					integral component of membrane (GO:0016021)											caggagtcagtggcctgagaa	0.488																																						ENST00000378660.1																			0											c.(1303-1305)agT>agA		calponin homology domain containing 2							160.0	146.0	151.0					X																	36162722		2202	4300	6502	SO:0001583	missense	286464							g.chrX:36162722T>A	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.1305T>A	X.37:g.36162722T>A	ENSP00000324767:p.Ser435Arg					CHDC2_ENST00000313548.4_Missense_Mutation_p.S435R	p.S435R							11	1493	+									Missense_Mutation	SNP	ENST00000313548.4	37	c.1305T>A	CCDS14238.1	.	.	.	.	.	.	.	.	.	.	T	5.568	0.289638	0.10567	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	0.694	-0.782	0.10961	.	2.688350	0.03542	N	0.224106	T	0.17408	0.0418	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.11641	-1.0579	8	0.17832	T	0.49	.	.	.	.	.	435	Q8N9S7	CX059_HUMAN	R	435	.	ENSP00000324767:S435R	S	+	3	2	CXorf59	36072643	0.136000	0.22515	0.007000	0.13788	0.007000	0.05969	-0.450000	0.06803	-0.358000	0.08162	-0.378000	0.06908	AGT		0.488	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695		6	49	0	0	0	1	0	6	49				
COL1A2	1278	broad.mit.edu	37	7	94049930	94049930	+	Silent	SNP	C	C	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr7:94049930C>A	ENST00000297268.6	+	37	2736	c.2265C>A	c.(2263-2265)ccC>ccA	p.P755P		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	755			Missing (in OI2). {ECO:0000269|PubMed:1339453}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TTGTTGGTCCCACAGGCCCCG	0.498										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(2263-2265)ccC>ccA		collagen, type I, alpha 2	Collagenase(DB00048)						47.0	43.0	44.0					7																	94049930		2203	4300	6503	SO:0001819	synonymous_variant	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94049930C>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2265C>A	7.37:g.94049930C>A		HNSCC(75;0.22)					p.P755P	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		37	2736	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		755		Missing (in OI2A).			P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	ENST00000297268.6	37	c.2265C>A	CCDS34682.1																																																																																				0.498	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		5	25	1	0	0.014758	1	0.0150777	5	25				
PSG6	5675	broad.mit.edu	37	19	43420318	43420318	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr19:43420318C>A	ENST00000292125.2	-	2	430	c.386G>T	c.(385-387)gGg>gTg	p.G129V	PSG6_ENST00000601833.1_Missense_Mutation_p.G58V|PSG6_ENST00000402603.4_Missense_Mutation_p.G129V|PSG6_ENST00000187910.2_Missense_Mutation_p.G129V	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	129	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TCCTCCAGTCCCATCGCCTCG	0.493																																						ENST00000601833.1																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(172-174)gGg>gTg		pregnancy specific beta-1-glycoprotein 6							286.0	250.0	262.0					19																	43420318		2201	4299	6500	SO:0001583	missense	5675							g.chr19:43420318C>A		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.386G>T	19.37:g.43420318C>A	ENSP00000292125:p.Gly129Val					PSG6_ENST00000187910.2_Missense_Mutation_p.G129V|PSG6_ENST00000292125.2_Missense_Mutation_p.G129V|PSG6_ENST00000402603.4_Missense_Mutation_p.G129V	p.G58V							2	1456	-		Prostate(69;0.00899)						O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	c.173G>T	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	3.260	-0.151488	0.06585	.	.	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125;ENST00000402456	T;T;T	0.01455	4.87;4.87;4.87	2.24	-4.48	0.03515	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01387	0.0045	N	0.11131	0.1	0.09310	N	1	B;P;P	0.40909	0.25;0.732;0.713	B;B;P	0.47864	0.212;0.361;0.559	T	0.43343	-0.9397	9	0.27785	T	0.31	.	4.1463	0.10217	0.0:0.4694:0.2101:0.3205	.	129;129;129	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	V	129	ENSP00000187910:G129V;ENSP00000385736:G129V;ENSP00000292125:G129V	ENSP00000187910:G129V	G	-	2	0	PSG6	48112158	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.003000	0.03682	-0.790000	0.04492	0.194000	0.17425	GGG		0.493	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		26	129	1	0	9.86323e-18	1	1.14397e-17	26	129				
DNAH7	56171	broad.mit.edu	37	2	196722214	196722214	+	Silent	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:196722214G>A	ENST00000312428.6	-	44	8401	c.8301C>T	c.(8299-8301)atC>atT	p.I2767I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2767	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTTTCTTATGATATTCATAT	0.393																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(8299-8301)atC>atT		dynein, axonemal, heavy chain 7							70.0	67.0	68.0					2																	196722214		1802	4064	5866	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196722214G>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.8301C>T	2.37:g.196722214G>A							p.I2767I	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			44	8401	-			2767			Stalk (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.8301C>T	CCDS42794.1																																																																																				0.393	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		4	80	0	0	0	1	0	4	80				
CDK15	65061	broad.mit.edu	37	2	202677239	202677239	+	Silent	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:202677239C>T	ENST00000374598.4	+	4	402	c.402C>T	c.(400-402)atC>atT	p.I134I	CDK15_ENST00000260967.2_Silent_p.I83I|CDK15_ENST00000410091.3_Silent_p.I83I|CDK15_ENST00000434439.1_Silent_p.I134I|CDK15_ENST00000450471.2_Silent_p.I134I|CDK15_ENST00000488419.1_3'UTR			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	134	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	TAAAAGTCATCAGCATGAATG	0.413																																						ENST00000450471.2																			0				breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26						c.(400-402)atC>atT		cyclin-dependent kinase 15	Adenosine triphosphate(DB00171)						144.0	136.0	138.0					2																	202677239		2203	4300	6503	SO:0001819	synonymous_variant	65061						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding	g.chr2:202677239C>T	AB053308	CCDS2350.1, CCDS58746.1, CCDS58747.1	2q33.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000138395	ENSG00000138395		"""Cyclin-dependent kinases"""	14434	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7"", ""PFTAIRE protein kinase 2"""	ALS2CR7, PFTK2		11586298, 16236519, 19884882	Standard	NM_139158		Approved	PFTAIRE2	uc002uyt.3	Q96Q40	OTTHUMG00000132838	ENST00000374598.4:c.402C>T	2.37:g.202677239C>T						CDK15_ENST00000434439.1_Silent_p.I134I|CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000260967.2_Silent_p.I83I|CDK15_ENST00000374598.4_Silent_p.I134I|CDK15_ENST00000410091.3_Silent_p.I83I	p.I134I	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN			4	488	+			134			Protein kinase.		A8K8R9|B8ZZX0|C9J1N8|C9K003|F8W6H8|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	Silent	SNP	ENST00000374598.4	37	c.402C>T																																																																																					0.413	CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000336053.2			11	146	0	0	0	1	0	11	146				
DNM1P47	100216544	broad.mit.edu	37	15	102292770	102292770	+	RNA	SNP	C	C	T	rs199538020	byFrequency	TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr15:102292770C>T	ENST00000561463.1	+	0	816									DNM1 pseudogene 47																		AGCGGCGCGACGAGATGCTGC	0.597																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102292770C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292770C>T														0	816	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.597	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		6	35	0	0	0	1	0	6	35				
PCDHB3	56132	broad.mit.edu	37	5	140481238	140481238	+	Silent	SNP	C	C	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr5:140481238C>A	ENST00000231130.2	+	1	1005	c.1005C>A	c.(1003-1005)gtC>gtA	p.V335V	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	335	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGTCATAGTCCAGGTGGTTG	0.463																																						ENST00000231130.2																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(1003-1005)gtC>gtA									78.0	78.0	78.0					5																	140481238		2203	4300	6503	SO:0001819	synonymous_variant	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140481238C>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1005C>A	5.37:g.140481238C>A						AC005754.7_ENST00000607216.1_RNA	p.V335V	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1005	+			335			Cadherin 3.		B2R8P2	Silent	SNP	ENST00000231130.2	37	c.1005C>A	CCDS4245.1																																																																																				0.463	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		5	73	1	0	2.0095e-06	1	2.20422e-06	5	73				
CPSF7	79869	broad.mit.edu	37	11	61183152	61183152	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:61183152G>C	ENST00000394888.4	-	7	1242	c.1070C>G	c.(1069-1071)tCt>tGt	p.S357C	CPSF7_ENST00000439958.3_Missense_Mutation_p.S348C|CPSF7_ENST00000340437.4_Missense_Mutation_p.S400C|CPSF7_ENST00000448745.1_Missense_Mutation_p.S348C	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	357					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						ACTGGCTCCAGATACTGCTTT	0.443																																						ENST00000340437.4																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						c.(1198-1200)tCt>tGt		cleavage and polyadenylation specific factor 7, 59kDa							136.0	114.0	122.0					11																	61183152		2202	4299	6501	SO:0001583	missense	79869				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	g.chr11:61183152G>C		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.1070C>G	11.37:g.61183152G>C	ENSP00000378352:p.Ser357Cys					CPSF7_ENST00000448745.1_Missense_Mutation_p.S348C|CPSF7_ENST00000439958.3_Missense_Mutation_p.S348C|CPSF7_ENST00000394888.4_Missense_Mutation_p.S357C	p.S400C	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN			7	1279	-			357					B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Missense_Mutation	SNP	ENST00000394888.4	37	c.1199C>G	CCDS44619.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.291804	0.80914	.	.	ENSG00000149532	ENST00000340437;ENST00000394888;ENST00000439958;ENST00000448745;ENST00000544147;ENST00000477890	D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4	6.08	6.08	0.98989	.	0.222153	0.48286	D	0.000194	D	0.89223	0.6654	L	0.29908	0.895	0.80722	D	1	P;P;P	0.37985	0.613;0.544;0.544	P;P;P	0.52424	0.521;0.604;0.698	D	0.88507	0.3086	10	0.54805	T	0.06	-0.0064	13.706	0.62639	0.0:0.1542:0.8458:0.0	.	357;400;348	Q8N684;Q8N684-3;Q8N684-2	CPSF7_HUMAN;.;.	C	400;357;348;348;123;281	ENSP00000345412:S400C;ENSP00000378352:S357C;ENSP00000397203:S348C;ENSP00000407394:S348C;ENSP00000437860:S281C	ENSP00000345412:S400C	S	-	2	0	CPSF7	60939728	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.826000	0.86716	2.894000	0.99253	0.655000	0.94253	TCT		0.443	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		6	74	0	0	0	1	0	6	74				
KRT85	3891	broad.mit.edu	37	12	52758751	52758751	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr12:52758751C>A	ENST00000257901.3	-	2	699	c.624G>T	c.(622-624)aaG>aaT	p.K208N	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	208	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CTCACTTCTTCTTGTAGCCCT	0.607																																						ENST00000257901.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(622-624)aaG>aaT		keratin 85							96.0	103.0	100.0					12																	52758751		2203	4300	6503	SO:0001583	missense	3891				epidermis development	keratin filament	protein binding|structural molecule activity	g.chr12:52758751C>A	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.624G>T	12.37:g.52758751C>A	ENSP00000257901:p.Lys208Asn						p.K208N	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	2	699	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		208			Coil 1B.|Rod.		Q9NSB1	Missense_Mutation	SNP	ENST00000257901.3	37	c.624G>T	CCDS8824.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.420033	0.83559	.	.	ENSG00000135443	ENST00000257901	D	0.90504	-2.68	4.7	4.7	0.59300	Filament (1);	0.000000	0.64402	D	0.000014	D	0.96030	0.8707	M	0.92738	3.34	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.96623	0.9461	10	0.87932	D	0	.	13.2371	0.59974	0.0:0.9209:0.0:0.0791	.	208	P78386	KRT85_HUMAN	N	208	ENSP00000257901:K208N	ENSP00000257901:K208N	K	-	3	2	KRT85	51045018	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.799000	0.62517	2.442000	0.82660	0.491000	0.48974	AAG		0.607	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		7	132	1	0	0.00198382	1	0.00206405	7	132				
LMF2	91289	broad.mit.edu	37	22	50943396	50943396	+	Silent	SNP	C	C	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr22:50943396C>A	ENST00000474879.2	-	10	1287	c.1272G>T	c.(1270-1272)gtG>gtT	p.V424V	LMF2_ENST00000380796.3_Intron|LMF2_ENST00000505981.1_5'Flank|LMF2_ENST00000216080.5_Silent_p.V399V	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	424						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCCCGGGCTCCACGTAGGAGT	0.692																																						ENST00000216080.5																			0				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10						c.(1195-1197)gtG>gtT		lipase maturation factor 2							19.0	22.0	21.0					22																	50943396		2192	4292	6484	SO:0001819	synonymous_variant	91289					endoplasmic reticulum membrane|integral to membrane		g.chr22:50943396C>A	BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258			25096	protein-coding gene	gene with protein product			"""transmembrane protein 153"", ""transmembrane protein 112B"""	TMEM153, TMEM112B		12477932	Standard	NM_033200		Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000474879.2:c.1272G>T	22.37:g.50943396C>A						LMF2_ENST00000380796.3_Intron|LMF2_ENST00000474879.2_Silent_p.V424V	p.V399V			Q9BU23	LMF2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	10	1365	-		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	424					A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Silent	SNP	ENST00000474879.2	37	c.1197G>T	CCDS14093.2	.	.	.	.	.	.	.	.	.	.	C	8.803	0.933351	0.18131	.	.	ENSG00000100258	ENST00000487499	.	.	.	4.84	2.73	0.32206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.0526	7.037	0.24998	0.0:0.7142:0.0:0.2858	.	.	.	.	X	431	.	.	G	-	1	0	LMF2	49290262	0.012000	0.17670	0.983000	0.44433	0.728000	0.41692	-1.419000	0.02460	0.455000	0.26910	0.650000	0.86243	GGA		0.692	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316833.2	NM_033200		4	11	1	0	0.00024832	1	0.00026419	4	11				
ABT1	29777	broad.mit.edu	37	6	26597380	26597380	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr6:26597380T>A	ENST00000274849.1	+	1	201	c.170T>A	c.(169-171)tTc>tAc	p.F57Y		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	57	RRM.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron differentiation (GO:0021522)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						CCGCCGCGCTTCCGGCCCCTG	0.622																																						ENST00000274849.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(169-171)tTc>tAc		activator of basal transcription 1							46.0	55.0	52.0					6																	26597380		2203	4300	6503	SO:0001583	missense	29777				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity	g.chr6:26597380T>A	AB027258	CCDS4616.1	6p21.31	2008-07-07			ENSG00000146109	ENSG00000146109			17369	protein-coding gene	gene with protein product						10648625	Standard	NM_013375		Approved		uc003nii.3	Q9ULW3	OTTHUMG00000016319	ENST00000274849.1:c.170T>A	6.37:g.26597380T>A	ENSP00000274849:p.Phe57Tyr						p.F57Y	NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN			1	201	+			57			RRM.			Missense_Mutation	SNP	ENST00000274849.1	37	c.170T>A	CCDS4616.1	.	.	.	.	.	.	.	.	.	.	T	36	5.687299	0.96784	.	.	ENSG00000146109	ENST00000274849	T	0.42131	0.98	4.81	2.27	0.28462	Nucleotide-binding, alpha-beta plait (1);	0.303000	0.32852	N	0.005577	T	0.35248	0.0925	L	0.59436	1.845	0.31465	N	0.669072	D	0.63880	0.993	P	0.58520	0.84	T	0.18178	-1.0345	10	0.62326	D	0.03	-42.5661	6.013	0.19586	0.0:0.0919:0.1655:0.7426	.	57	Q9ULW3	ABT1_HUMAN	Y	57	ENSP00000274849:F57Y	ENSP00000274849:F57Y	F	+	2	0	ABT1	26705359	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	4.788000	0.62439	0.986000	0.38683	0.533000	0.62120	TTC		0.622	ABT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043698.1			4	31	0	0	0	1	0	4	31				
DACH1	1602	broad.mit.edu	37	13	72134001	72134001	+	Silent	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr13:72134001G>A	ENST00000359684.2	-	6	1547	c.1548C>T	c.(1546-1548)agC>agT	p.S516S	DACH1_ENST00000313174.7_Intron|DACH1_ENST00000354591.4_Intron|DACH1_ENST00000305425.4_Silent_p.S464S			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	516					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TGGACACGCTGCTGCTGCGAT	0.547																																						ENST00000305425.4																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1390-1392)agC>agT		dachshund homolog 1 (Drosophila)							51.0	57.0	55.0					13																	72134001		2063	4222	6285	SO:0001819	synonymous_variant	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72134001G>A	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1548C>T	13.37:g.72134001G>A						DACH1_ENST00000354591.4_Intron|DACH1_ENST00000359684.2_Silent_p.S516S|DACH1_ENST00000313174.7_Intron	p.S464S	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	5	1814	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	514					D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Silent	SNP	ENST00000359684.2	37	c.1392C>T																																																																																					0.547	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		8	26	0	0	0	1	0	8	26				
NAV2	89797	broad.mit.edu	37	11	20101610	20101610	+	Splice_Site	SNP	G	G	T	rs143296630		TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:20101610G>T	ENST00000396087.3	+	27	5447	c.5348G>T	c.(5347-5349)gGa>gTa	p.G1783V	NAV2_ENST00000527559.2_Splice_Site_p.G1712V|NAV2_ENST00000540292.1_Splice_Site_p.G1714V|NAV2_ENST00000311043.8_Splice_Site_p.G791V|NAV2_ENST00000349880.4_Splice_Site_p.G1727V|NAV2_ENST00000396085.1_Splice_Site_p.G1727V|NAV2_ENST00000360655.4_Splice_Site_p.G1663V|NAV2_ENST00000533917.1_Splice_Site_p.G791V	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1783					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TGGTCTCCAGGAAACGGCACT	0.577																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.e25-1		neuron navigator 2							43.0	42.0	42.0					11																	20101610		2203	4300	6503	SO:0001630	splice_region_variant	89797					nucleus	ATP binding|helicase activity	g.chr11:20101610G>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.5348-1G>T	11.37:g.20101610G>T						NAV2_ENST00000349880.4_Splice_Site_p.G1727_splice|NAV2_ENST00000360655.4_Splice_Site_p.G1663_splice|NAV2_ENST00000396087.3_Splice_Site_p.G1783_splice|NAV2_ENST00000533917.1_Splice_Site_p.G791_splice|NAV2_ENST00000527559.2_Splice_Site_p.G1712_splice|NAV2_ENST00000311043.8_Splice_Site_p.G791_splice|NAV2_ENST00000540292.1_Splice_Site_p.G1714_splice	p.G1727_splice	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			25	5541	+			1783					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Splice_Site	SNP	ENST00000396087.3	37	c.5179_splice	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550872	0.65311	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	D;D;D;D;D;D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2;-3.2;-3.2;-3.2;-3.2;-3.2	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000010	D	0.93697	0.7986	N	0.19112	0.55	0.80722	D	1	P;D;D;D;P;D	0.76494	0.647;0.998;0.999;0.999;0.454;0.999	B;P;D;D;B;D	0.70016	0.203;0.9;0.931;0.956;0.131;0.967	D	0.92639	0.6123	9	.	.	.	.	19.8535	0.96748	0.0:0.0:1.0:0.0	.	1727;1783;791;776;1727;1663	A7E2D6;Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;NAV2_HUMAN;.;.;.;.	V	1663;1727;1727;1783;1712;1714;791;776;791;776	ENSP00000353871:G1663V;ENSP00000379394:G1727V;ENSP00000309577:G1727V;ENSP00000379396:G1783V;ENSP00000435395:G1712V;ENSP00000443489:G1714V;ENSP00000437316:G791V;ENSP00000437136:G776V;ENSP00000312169:G791V	.	G	+	2	0	NAV2	20058186	1.000000	0.71417	0.990000	0.47175	0.037000	0.13140	8.784000	0.91818	2.694000	0.91930	0.557000	0.71058	GGA		0.577	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117	Missense_Mutation	7	46	1	0	8.12818e-05	1	8.7463e-05	7	46				
UCP3	7352	broad.mit.edu	37	11	73716916	73716916	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:73716916C>A	ENST00000314032.4	-	4	952	c.400G>T	c.(400-402)Gcc>Tcc	p.A134S	UCP3_ENST00000426995.2_Missense_Mutation_p.A134S|UCP3_ENST00000348534.4_Intron	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	134					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to hormone stimulus (GO:0032870)|fatty acid metabolic process (GO:0006631)|lipid metabolic process (GO:0006629)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to activity (GO:0014823)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					GTGGGCTGGGCACAGGTCACC	0.612																																						ENST00000314032.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(400-402)Gcc>Tcc		uncoupling protein 3 (mitochondrial, proton carrier)							70.0	62.0	65.0					11																	73716916		2200	4293	6493	SO:0001583	missense	7352				mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding	g.chr11:73716916C>A	AF001787	CCDS8229.1, CCDS44677.1	11q13.4	2013-05-22				ENSG00000175564		"""Solute carriers"""	12519	protein-coding gene	gene with protein product		602044				9480760, 9196039	Standard	NM_003356		Approved	SLC25A9	uc001our.3	P55916		ENST00000314032.4:c.400G>T	11.37:g.73716916C>A	ENSP00000323740:p.Ala134Ser					UCP3_ENST00000348534.4_Intron|UCP3_ENST00000426995.2_Missense_Mutation_p.A134S	p.A134S	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN			4	952	-	Breast(11;2.08e-05)		134					O60475|Q96HL3	Missense_Mutation	SNP	ENST00000314032.4	37	c.400G>T	CCDS8229.1	.	.	.	.	.	.	.	.	.	.	C	35	5.482262	0.96307	.	.	ENSG00000175564	ENST00000314032;ENST00000426995	T;T	0.79141	-1.24;-1.24	5.72	5.72	0.89469	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.89037	0.6601	M	0.62016	1.91	0.80722	D	1	B	0.30870	0.298	P	0.60949	0.881	D	0.87570	0.2477	10	0.87932	D	0	-1.3196	19.4721	0.94967	0.0:1.0:0.0:0.0	.	134	P55916	UCP3_HUMAN	S	134	ENSP00000323740:A134S;ENSP00000392143:A134S	ENSP00000323740:A134S	A	-	1	0	UCP3	73394564	1.000000	0.71417	0.999000	0.59377	0.792000	0.44763	7.692000	0.84203	2.709000	0.92574	0.561000	0.74099	GCC		0.612	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398200.1	NM_003356		7	59	1	0	0.0293803	1	0.0298016	7	59				
COG7	91949	broad.mit.edu	37	16	23436185	23436185	+	Silent	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr16:23436185G>A	ENST00000307149.5	-	7	1079	c.894C>T	c.(892-894)ctC>ctT	p.L298L		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	298					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		CGCCGTTGCTGAGGCAGGAGG	0.647																																						ENST00000307149.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27						c.(892-894)ctC>ctT		component of oligomeric golgi complex 7							55.0	53.0	54.0					16																	23436185		2197	4300	6497	SO:0001819	synonymous_variant	91949				intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:23436185G>A	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"""Components of oligomeric golgi complex"""	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.894C>T	16.37:g.23436185G>A							p.L298L	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	7	1079	-			298					Q6UWU7	Silent	SNP	ENST00000307149.5	37	c.894C>T	CCDS10610.1																																																																																				0.647	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			9	71	0	0	0	1	0	9	71				
RP11-383M4.6	0	broad.mit.edu	37	9	84547870	84547870	+	lincRNA	SNP	T	T	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr9:84547870T>C	ENST00000585776.1	-	0	1039				RP11-383M4.2_ENST00000427387.1_lincRNA|SPATA31D4_ENST00000341875.4_RNA																							CGTGAACCCATAGAAATCTTC	0.428																																						ENST00000585776.1																			0																				14.0	11.0	12.0					9																	84547870		675	1541	2216			0							g.chr9:84547870T>C																													9.37:g.84547870T>C						SPATA31D4_ENST00000341875.4_RNA								0	1039	-									RNA	SNP	ENST00000585776.1	37																																																																																						0.428	RP11-383M4.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000453562.1			3	10	0	0	0	1	0	3	10				
LECT2	3950	broad.mit.edu	37	5	135286949	135286949	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr5:135286949C>G	ENST00000274507.1	-	3	452	c.252G>C	c.(250-252)aaG>aaC	p.K84N	LECT2_ENST00000522943.1_Missense_Mutation_p.K84N|LECT2_ENST00000514447.2_Missense_Mutation_p.K84N|FBXL21_ENST00000467490.1_RNA|LECT2_ENST00000512872.1_Missense_Mutation_p.K12N|LECT2_ENST00000471827.1_5'UTR	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2	84					chemotaxis (GO:0006935)|negative regulation of Wnt signaling pathway (GO:0030178)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	identical protein binding (GO:0042802)			large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGATAGCATTCTTGTTTTGAT	0.463																																						ENST00000274507.1																			0				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4						c.(250-252)aaG>aaC		leukocyte cell-derived chemotaxin 2							135.0	127.0	129.0					5																	135286949		2203	4300	6503	SO:0001583	missense	3950				chemotaxis|skeletal system development	cytoplasm|extracellular space		g.chr5:135286949C>G	AB007546	CCDS4190.1	5q31.1	2008-05-15			ENSG00000145826	ENSG00000145826			6550	protein-coding gene	gene with protein product		602882				9545637	Standard	NM_002302		Approved	chm-II, chm2	uc003lbe.1	O14960	OTTHUMG00000129146	ENST00000274507.1:c.252G>C	5.37:g.135286949C>G	ENSP00000274507:p.Lys84Asn					LECT2_ENST00000512872.1_Missense_Mutation_p.K12N|FBXL21_ENST00000467490.1_RNA|LECT2_ENST00000514447.2_Missense_Mutation_p.K84N|LECT2_ENST00000522943.1_Missense_Mutation_p.K84N|LECT2_ENST00000471827.1_5'UTR	p.K84N	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		3	452	-			84					B2RA90|O14565|Q52M49	Missense_Mutation	SNP	ENST00000274507.1	37	c.252G>C	CCDS4190.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.340521	0.41498	.	.	ENSG00000145826	ENST00000522943;ENST00000274507;ENST00000512872;ENST00000514447	T;T;T;T	0.43688	2.92;0.94;2.92;2.92	5.72	0.672	0.17935	Peptidase M23 (1);	0.407301	0.30695	N	0.009066	T	0.19406	0.0466	N	0.16478	0.41	0.38035	D	0.935297	B	0.06786	0.001	B	0.12156	0.007	T	0.06698	-1.0812	10	0.30078	T	0.28	-13.8828	2.1444	0.03783	0.1282:0.1515:0.1327:0.5875	.	84	O14960	LECT2_HUMAN	N	84;84;12;84	ENSP00000429618:K84N;ENSP00000274507:K84N;ENSP00000427012:K12N;ENSP00000421123:K84N	ENSP00000274507:K84N	K	-	3	2	LECT2	135314848	0.998000	0.40836	1.000000	0.80357	0.973000	0.67179	0.227000	0.17795	0.993000	0.38866	-0.417000	0.06048	AAG		0.463	LECT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251209.1	NM_002302		8	55	0	0	0	1	0	8	55				
WDR54	84058	broad.mit.edu	37	2	74654356	74654356	+	IGR	SNP	G	G	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:74654356G>C	ENST00000348227.4	+	0	1147				RTKN_ENST00000233330.6_Missense_Mutation_p.P384A|RTKN_ENST00000272430.5_Missense_Mutation_p.P434A|RTKN_ENST00000305557.5_Missense_Mutation_p.P421A	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54											breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						CGGGGAGCAGGAGTTTCAATT	0.502																																						ENST00000305557.5																			0				endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1261-1263)Cct>Gct		rhotekin							117.0	115.0	116.0					2																	74654356		2203	4300	6503	SO:0001628	intergenic_variant	6242				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity	g.chr2:74654356G>C	AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"""WD repeat domain containing"""	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951		2.37:g.74654356G>C						RTKN_ENST00000272430.5_Missense_Mutation_p.P434A|RTKN_ENST00000233330.6_Missense_Mutation_p.P384A	p.P421A	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN			12	1846	-			434					D6W5I3|Q53H85|Q86V45	Missense_Mutation	SNP	ENST00000348227.4	37	c.1261C>G	CCDS1940.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.548488	0.45383	.	.	ENSG00000114993	ENST00000305557;ENST00000272430;ENST00000233330	T;T;T	0.79845	-1.31;-1.31;-1.31	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.83695	0.5310	L	0.52573	1.65	0.58432	D	0.999999	D;D	0.71674	0.997;0.998	D;D	0.72982	0.953;0.979	T	0.78861	-0.2037	10	0.05525	T	0.97	.	15.1232	0.72460	0.0:0.0:1.0:0.0	.	434;421	Q9BST9;Q9BST9-2	RTKN_HUMAN;.	A	421;434;384	ENSP00000305298:P421A;ENSP00000272430:P434A;ENSP00000233330:P384A	ENSP00000233330:P384A	P	-	1	0	RTKN	74507864	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.931000	0.56529	2.433000	0.82419	0.484000	0.47621	CCT		0.502	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252213.1	NM_032118		7	86	0	0	0	1	0	7	86				
QRICH1	54870	broad.mit.edu	37	3	49067981	49067981	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr3:49067981G>C	ENST00000395443.2	-	10	2707	c.2235C>G	c.(2233-2235)atC>atG	p.I745M	RP13-131K19.6_ENST00000607245.1_RNA|QRICH1_ENST00000357496.2_Missense_Mutation_p.I745M|QRICH1_ENST00000479449.1_5'Flank|QRICH1_ENST00000424300.1_Missense_Mutation_p.I745M|IMPDH2_ENST00000326739.4_5'Flank	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	745						nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GCTCTCTGCTGATAGGCTGGA	0.547																																						ENST00000395443.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(2233-2235)atC>atG		glutamine-rich 1							104.0	95.0	98.0					3																	49067981		2203	4300	6503	SO:0001583	missense	54870							g.chr3:49067981G>C		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.2235C>G	3.37:g.49067981G>C	ENSP00000378830:p.Ile745Met					QRICH1_ENST00000357496.2_Missense_Mutation_p.I745M|QRICH1_ENST00000424300.1_Missense_Mutation_p.I745M	p.I745M	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	10	2707	-			745					Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	c.2235C>G	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.706756	0.68615	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300	.	.	.	5.31	5.31	0.75309	.	0.046783	0.85682	D	0.000000	T	0.60818	0.2298	L	0.28192	0.835	0.80722	D	1	D	0.59357	0.985	P	0.58013	0.831	T	0.55897	-0.8068	9	0.23891	T	0.37	-4.0815	18.9756	0.92735	0.0:0.0:1.0:0.0	.	745	Q2TAL8	QRIC1_HUMAN	M	745	.	ENSP00000350094:I745M	I	-	3	3	QRICH1	49042985	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.532000	0.81985	2.498000	0.84270	0.655000	0.94253	ATC		0.547	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		3	64	0	0	0	1	0	3	64				
C8B	732	broad.mit.edu	37	1	57425789	57425789	+	Silent	SNP	T	T	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:57425789T>C	ENST00000371237.4	-	2	219	c.153A>G	c.(151-153)agA>agG	p.R51R	C8B_ENST00000543257.1_5'UTR|C8B_ENST00000494324.1_5'UTR|C8B_ENST00000535057.1_5'UTR	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	51					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TCCGCATCTGTCTGCTCTTAG	0.463																																						ENST00000371237.4																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						c.(151-153)agA>agG		complement component 8, beta polypeptide							168.0	140.0	149.0					1																	57425789		2203	4300	6503	SO:0001819	synonymous_variant	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57425789T>C	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.153A>G	1.37:g.57425789T>C						C8B_ENST00000494324.1_5'UTR|C8B_ENST00000535057.1_5'UTR|C8B_ENST00000543257.1_5'UTR	p.R51R	NM_000066.2	NP_000057.1	P07358	CO8B_HUMAN			2	219	-			51					A1L4K7	Silent	SNP	ENST00000371237.4	37	c.153A>G	CCDS30730.1																																																																																				0.463	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			4	73	0	0	0	1	0	4	73				
MAP1LC3C	440738	broad.mit.edu	37	1	242159618	242159618	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:242159618C>T	ENST00000357246.3	-	4	355	c.291G>A	c.(289-291)atG>atA	p.M97I		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	97					autophagy (GO:0006914)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|microtubule (GO:0005874)|organelle membrane (GO:0031090)				endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGGTTGCGCTCATGCTGACCA	0.562																																						ENST00000357246.3																			0				endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13						c.(289-291)atG>atA		microtubule-associated protein 1 light chain 3 gamma							203.0	177.0	186.0					1																	242159618		2203	4300	6503	SO:0001583	missense	440738				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding	g.chr1:242159618C>T	AF276659	CCDS31074.1	1q43	2014-02-12			ENSG00000197769	ENSG00000197769			13353	protein-coding gene	gene with protein product		609605				12740394	Standard	NM_001004343		Approved	ATG8J	uc001hzk.2	Q9BXW4	OTTHUMG00000039865	ENST00000357246.3:c.291G>A	1.37:g.242159618C>T	ENSP00000349785:p.Met97Ile						p.M97I	NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		4	355	-			97					A0PJY8|A2RUP0	Missense_Mutation	SNP	ENST00000357246.3	37	c.291G>A	CCDS31074.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.707078	0.30232	.	.	ENSG00000197769	ENST00000357246	T	0.40476	1.03	4.18	1.03	0.20045	.	0.181999	0.64402	D	0.000016	T	0.40297	0.1111	L	0.55990	1.75	0.37854	D	0.929506	B	0.06786	0.001	B	0.24974	0.057	T	0.45920	-0.9228	10	0.66056	D	0.02	.	14.2727	0.66162	0.0:0.5699:0.4301:0.0	.	97	Q9BXW4	MLP3C_HUMAN	I	97	ENSP00000349785:M97I	ENSP00000349785:M97I	M	-	3	0	MAP1LC3C	240226241	1.000000	0.71417	0.000000	0.03702	0.083000	0.17756	3.208000	0.51114	0.034000	0.15491	-0.189000	0.12847	ATG		0.562	MAP1LC3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096185.1	NM_001004343		16	151	0	0	0	1	0	16	151				
KCNU1	157855	broad.mit.edu	37	8	36766906	36766906	+	Silent	SNP	G	G	A	rs368283762	byFrequency	TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr8:36766906G>A	ENST00000399881.3	+	21	2221	c.2184G>A	c.(2182-2184)ccG>ccA	p.P728P		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	728	Segment S9.				multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.P728P(5)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ACTCAGCCCCGATGGGGCTTC	0.468													G|||	2	0.000399361	0.0	0.0	5008	,	,		16189	0.002		0.0	False		,,,				2504	0.0					ENST00000399881.3																			5	Substitution - coding silent(5)	p.P728P(5)	cervix(2)|lung(2)|prostate(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(2182-2184)ccG>ccA		potassium channel, subfamily U, member 1							228.0	221.0	223.0					8																	36766906		1863	4108	5971	SO:0001819	synonymous_variant	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36766906G>A	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2184G>A	8.37:g.36766906G>A							p.P728P	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	21	2221	+			728			Segment S9.			Silent	SNP	ENST00000399881.3	37	c.2184G>A	CCDS55220.1																																																																																				0.468	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		12	538	0	0	0	1	0	12	538				
OR5M11	219487	broad.mit.edu	37	11	56310057	56310057	+	Missense_Mutation	SNP	C	C	T	rs201723938	byFrequency	TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:56310057C>T	ENST00000528616.2	-	1	700	c.677G>A	c.(676-678)cGg>cAg	p.R226Q		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TGATTTGATCCGGAGGATGGC	0.493													C|||	3	0.000599042	0.0023	0.0	5008	,	,		21771	0.0		0.0	False		,,,				2504	0.0					ENST00000528616.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						c.(676-678)cGg>cAg		olfactory receptor, family 5, subfamily M, member 11		C	GLN/ARG	7,4047		0,7,2020	85.0	85.0	85.0		677	1.7	0.2	11		85	1,8407		0,1,4203	yes	missense	OR5M11	NM_001005245.1	43	0,8,6223	TT,TC,CC		0.0119,0.1727,0.0642	possibly-damaging	226/306	56310057	8,12454	2027	4204	6231	SO:0001583	missense	219487				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56310057C>T	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.677G>A	11.37:g.56310057C>T	ENSP00000432417:p.Arg226Gln						p.R226Q	NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN			1	700	-			226					B2RNL5|B2RNL7	Missense_Mutation	SNP	ENST00000528616.2	37	c.677G>A	CCDS53629.1	.	.	.	.	.	.	.	.	.	.	C	8.564	0.878416	0.17395	0.001727	1.19E-4	ENSG00000255223	ENST00000528616	T	0.00231	8.49	4.85	1.7	0.24286	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	L	0.47716	1.5	0.09310	N	1	P	0.37083	0.581	B	0.36378	0.223	T	0.30592	-0.9973	9	0.59425	D	0.04	.	7.396	0.26936	0.0:0.5334:0.0:0.4666	.	226	Q96RB7	OR5MB_HUMAN	Q	226	ENSP00000432417:R226Q	ENSP00000432417:R226Q	R	-	2	0	OR5M11	56066633	0.000000	0.05858	0.170000	0.22879	0.097000	0.18754	-0.340000	0.07821	0.205000	0.20568	-0.162000	0.13425	CGG		0.493	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		9	62	0	0	0	1	0	9	62				
ASXL3	80816	broad.mit.edu	37	18	31318539	31318539	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr18:31318539G>T	ENST00000269197.5	+	11	1171	c.1171G>T	c.(1171-1173)Ggc>Tgc	p.G391C		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	391					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGGGACTTCTGGCCTTCCAGT	0.498																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(1171-1173)Ggc>Tgc		additional sex combs like 3 (Drosophila)							61.0	63.0	62.0					18																	31318539		1930	4142	6072	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31318539G>T	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.1171G>T	18.37:g.31318539G>T	ENSP00000269197:p.Gly391Cys						p.G391C	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			11	1171	+			391					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.1171G>T	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	1.205	-0.631431	0.03584	.	.	ENSG00000141431	ENST00000269197	T	0.15487	2.42	4.74	2.39	0.29439	.	1.088490	0.07047	N	0.831328	T	0.15003	0.0362	L	0.38175	1.15	0.28507	N	0.913726	B	0.21905	0.062	B	0.18871	0.023	T	0.23190	-1.0195	10	0.42905	T	0.14	.	8.4279	0.32739	0.0919:0.0:0.7141:0.194	.	391	Q9C0F0	ASXL3_HUMAN	C	391	ENSP00000269197:G391C	ENSP00000269197:G391C	G	+	1	0	ASXL3	29572537	0.430000	0.25538	0.788000	0.31933	0.305000	0.27757	0.596000	0.24044	0.994000	0.38892	0.591000	0.81541	GGC		0.498	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			4	34	1	0	0.00024832	1	0.00026419	4	34				
CNTNAP4	85445	broad.mit.edu	37	16	76486617	76486617	+	Silent	SNP	T	T	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr16:76486617T>A	ENST00000476707.1	+	7	1432	c.1293T>A	c.(1291-1293)ctT>ctA	p.L431L	CNTNAP4_ENST00000377504.4_Silent_p.L379L|CNTNAP4_ENST00000478060.1_Silent_p.L355L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Silent_p.L427L			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	428	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ATGGAAAACTTAAGTCGAATC	0.418																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(1279-1281)ctT>ctA		contactin associated protein-like 4							51.0	52.0	52.0					16																	76486617		2198	4300	6498	SO:0001819	synonymous_variant	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76486617T>A	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1293T>A	16.37:g.76486617T>A						CNTNAP4_ENST00000478060.1_Silent_p.L355L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Silent_p.L379L|CNTNAP4_ENST00000476707.1_Silent_p.L431L	p.L427L	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			9	1666	+			428			Laminin G-like 2.		E9PFZ6|Q86YZ7	Silent	SNP	ENST00000476707.1	37	c.1281T>A																																																																																					0.418	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		5	53	0	0	0	1	0	5	53				
GSDMD	79792	broad.mit.edu	37	8	144643207	144643207	+	Silent	SNP	G	G	A	rs145648319		TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr8:144643207G>A	ENST00000526406.1	+	8	1498	c.615G>A	c.(613-615)acG>acA	p.T205T	GSDMD_ENST00000533063.1_Silent_p.T253T|GSDMD_ENST00000262580.4_Silent_p.T205T	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	205					cellular response to extracellular stimulus (GO:0031668)					breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						AGAAGAAGACGGTCACCATCC	0.687													G|||	1	0.000199681	0.0	0.0	5008	,	,		12196	0.0		0.001	False		,,,				2504	0.0					ENST00000526406.1																			0				breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(613-615)acG>acA		gasdermin D		G	,	0,4406		0,0,2203	68.0	57.0	61.0		615,615	-5.9	0.0	8	dbSNP_134	61	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	GSDMD	NM_001166237.1,NM_024736.6	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	205/485,205/485	144643207	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	79792							g.chr8:144643207G>A	AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"""gasdermin domain containing 1"""	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.615G>A	8.37:g.144643207G>A						GSDMD_ENST00000533063.1_Silent_p.T253T|GSDMD_ENST00000262580.4_Silent_p.T205T	p.T205T	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN			8	1498	+			205					D3DWJ9|Q96Q98	Silent	SNP	ENST00000526406.1	37	c.615G>A	CCDS34956.1																																																																																				0.687	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382046.3	NM_024736		9	41	0	0	0	1	0	9	41				
CAPN12	147968	broad.mit.edu	37	19	39221800	39221800	+	Missense_Mutation	SNP	C	C	T	rs375958081		TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr19:39221800C>T	ENST00000328867.4	-	19	2329	c.2021G>A	c.(2020-2022)cGt>cAt	p.R674H	ACTN4_ENST00000252699.2_3'UTR|CAPN12_ENST00000601953.1_Missense_Mutation_p.R525H	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	674	Domain IV.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GAAGTCCACACGCAGACGGCT	0.647																																						ENST00000328867.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(2020-2022)cGt>cAt		calpain 12		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	67.0	49.0	55.0		2021	3.7	1.0	19		55	0,8600		0,0,4300	no	missense	CAPN12	NM_144691.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	674/720	39221800	1,13005	2203	4300	6503	SO:0001583	missense	147968				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:39221800C>T	BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"""EF-hand domain containing"""	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.2021G>A	19.37:g.39221800C>T	ENSP00000331636:p.Arg674His					CAPN12_ENST00000601953.1_Missense_Mutation_p.R525H|ACTN4_ENST00000252699.2_3'UTR	p.R674H	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		19	2329	-	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		674			Domain IV.			Missense_Mutation	SNP	ENST00000328867.4	37	c.2021G>A	CCDS12519.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.233906	0.39498	2.27E-4	0.0	ENSG00000182472	ENST00000328867	T	0.31769	1.48	4.74	3.7	0.42460	EF-hand-like domain (1);	0.256841	0.39475	N	0.001351	T	0.44912	0.1316	M	0.63428	1.95	0.26263	N	0.978545	D	0.89917	1.0	P	0.62435	0.902	T	0.23619	-1.0183	10	0.45353	T	0.12	.	8.872	0.35323	0.0:0.8976:0.0:0.1024	.	674	Q6ZSI9	CAN12_HUMAN	H	674	ENSP00000331636:R674H	ENSP00000331636:R674H	R	-	2	0	CAPN12	43913640	0.000000	0.05858	0.976000	0.42696	0.843000	0.47879	-0.175000	0.09825	1.227000	0.43598	0.491000	0.48974	CGT		0.647	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1			3	38	0	0	0	1	0	3	38				
KNDC1	85442	broad.mit.edu	37	10	135038267	135038267	+	Missense_Mutation	SNP	G	G	A	rs375653063		TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr10:135038267G>A	ENST00000304613.3	+	30	5144	c.5123G>A	c.(5122-5124)cGc>cAc	p.R1708H	KNDC1_ENST00000368572.2_Missense_Mutation_p.R1710H			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1708	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.R1708H(1)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AGGATTGCCCGCTTCAGCGGT	0.587																																						ENST00000304613.3																			1	Substitution - Missense(1)	p.R1708H(1)	prostate(1)	NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(5122-5124)cGc>cAc		kinase non-catalytic C-lobe domain (KIND) containing 1		G	HIS/ARG	0,4406		0,0,2203	81.0	68.0	72.0		5123	3.5	0.1	10		72	1,8597	1.2+/-3.3	0,1,4298	no	missense	KNDC1	NM_152643.6	29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	1708/1750	135038267	1,13003	2203	4299	6502	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135038267G>A	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.5123G>A	10.37:g.135038267G>A	ENSP00000304437:p.Arg1708His					KNDC1_ENST00000368572.2_Missense_Mutation_p.R1710H	p.R1708H			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	30	5144	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1708			Ras-GEF.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.5123G>A	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	5.906	0.351293	0.11182	0.0	1.16E-4	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.29142	1.58;1.58	4.41	3.51	0.40186	Guanine-nucleotide dissociation stimulator CDC25 (1);Ras guanine nucleotide exchange factor, domain (1);	0.333203	0.28583	N	0.014837	T	0.12178	0.0296	N	0.12182	0.205	0.34687	D	0.725337	B	0.31077	0.307	B	0.15484	0.013	T	0.22208	-1.0223	10	0.11485	T	0.65	-31.425	7.4231	0.27083	0.2032:0.0:0.7968:0.0	.	1708	Q76NI1	VKIND_HUMAN	H	1708;1710	ENSP00000304437:R1708H;ENSP00000357561:R1710H	ENSP00000304437:R1708H	R	+	2	0	KNDC1	134888257	0.017000	0.18338	0.147000	0.22382	0.036000	0.12997	0.420000	0.21263	0.986000	0.38683	-0.133000	0.14855	CGC		0.587	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		8	38	0	0	0	1	0	8	38				
TRIP11	9321	broad.mit.edu	37	14	92436038	92436038	+	Silent	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr14:92436038C>T	ENST00000267622.4	-	21	6292	c.5919G>A	c.(5917-5919)ctG>ctA	p.L1973L		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1973					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		AAAGGTCTTTCAGCACAACCC	0.438			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(5917-5919)ctG>ctA		thyroid hormone receptor interactor 11							69.0	73.0	72.0					14																	92436038		2203	4300	6503	SO:0001819	synonymous_variant	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92436038C>T	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.5919G>A	14.37:g.92436038C>T							p.L1973L	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	21	6292	-			1973					B2RUT2|O14689|O15154|O95949	Silent	SNP	ENST00000267622.4	37	c.5919G>A	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	C	5.585	0.292666	0.10567	.	.	ENSG00000100815	ENST00000554357	.	.	.	5.68	-0.984	0.10259	.	.	.	.	.	T	0.51363	0.1670	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43147	-0.9409	4	.	.	.	.	6.6857	0.23144	0.0:0.4834:0.1832:0.3334	.	.	.	.	K	1689	.	.	E	-	1	0	TRIP11	91505791	0.008000	0.16893	0.621000	0.29145	0.702000	0.40608	-1.328000	0.02680	0.081000	0.16988	0.563000	0.77884	GAA		0.438	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			11	95	0	0	0	1	0	11	95				
CALM3	808	broad.mit.edu	37	19	47111501	47111501	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr19:47111501A>G	ENST00000291295.9	+	3	281	c.82A>G	c.(82-84)Atc>Gtc	p.I28V	CTB-12A17.3_ENST00000597609.1_RNA|CALM3_ENST00000596362.1_Missense_Mutation_p.I28V|CALM3_ENST00000597743.1_Missense_Mutation_p.I28V|CALM3_ENST00000477244.1_3'UTR|CALM3_ENST00000599839.1_5'UTR|CALM3_ENST00000598871.1_5'UTR|CALM3_ENST00000391918.2_5'UTR|CALM3_ENST00000594523.1_5'UTR	NM_005184.2	NP_005175.2	P62158	CALM_HUMAN	calmodulin 3 (phosphorylase kinase, delta)	28	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)			breast(1)|cervix(2)|endometrium(1)|lung(1)|ovary(1)	6		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000683)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0341)	Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	AGATGGCACTATCACCACCAA	0.537																																						ENST00000291295.9																			0				breast(1)|cervix(2)|endometrium(1)|lung(1)|ovary(1)	6						c.(82-84)Atc>Gtc		calmodulin 3 (phosphorylase kinase, delta)	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)						100.0	83.0	89.0					19																	47111501		2203	4300	6503	SO:0001583	missense	808				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding	g.chr19:47111501A>G		CCDS33061.1	19q13.2-q13.3	2013-02-25			ENSG00000160014	ENSG00000160014		"""EF-hand domain containing"", ""Endogenous ligands"""	1449	protein-coding gene	gene with protein product	"""prepro-calmodulin 3"""	114183					Standard	NM_005184		Approved	PHKD	uc002pew.3	P62158	OTTHUMG00000133517	ENST00000291295.9:c.82A>G	19.37:g.47111501A>G	ENSP00000291295:p.Ile28Val					CALM3_ENST00000596362.1_Missense_Mutation_p.I28V|CALM3_ENST00000598871.1_5'UTR|CALM3_ENST00000599839.1_5'UTR|CALM3_ENST00000477244.1_3'UTR|CALM3_ENST00000597743.1_Missense_Mutation_p.I28V|CALM3_ENST00000391918.2_5'UTR|CALM3_ENST00000594523.1_5'UTR	p.I28V	NM_005184.2	NP_005175.2	P62158	CALM_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000683)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0341)	3	281	+		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	28			EF-hand 1.		P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	Missense_Mutation	SNP	ENST00000291295.9	37	c.82A>G	CCDS33061.1	.	.	.	.	.	.	.	.	.	.	A	14.54	2.565268	0.45694	.	.	ENSG00000160014	ENST00000291295;ENST00000391918	T;T	0.79749	-0.98;-1.3	5.18	5.18	0.71444	.	0.000000	0.56097	D	0.000032	D	0.86703	0.5996	M	0.74647	2.275	0.80722	D	1	.	.	.	.	.	.	D	0.88272	0.2930	8	0.87932	D	0	-34.9675	13.0281	0.58827	1.0:0.0:0.0:0.0	.	.	.	.	V	28	ENSP00000291295:I28V;ENSP00000375785:I28V	ENSP00000291295:I28V	I	+	1	0	CALM3	51803341	1.000000	0.71417	0.986000	0.45419	0.999000	0.98932	9.139000	0.94554	2.172000	0.68678	0.533000	0.62120	ATC		0.537	CALM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257483.2			22	73	0	0	0	1	0	22	73				
GPR119	139760	broad.mit.edu	37	X	129518519	129518519	+	Silent	SNP	G	G	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chrX:129518519G>C	ENST00000276218.2	-	1	992	c.903C>G	c.(901-903)ctC>ctG	p.L301L		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	301					insulin secretion (GO:0030073)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						GGAATGAGGTGAGCACCTTCT	0.552																																						ENST00000276218.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						c.(901-903)ctC>ctG		G protein-coupled receptor 119							83.0	75.0	78.0					X																	129518519		2203	4300	6503	SO:0001819	synonymous_variant	139760					integral to membrane|plasma membrane	lipid binding	g.chrX:129518519G>C	AY288416	CCDS14625.1	Xq26.1	2014-01-30			ENSG00000147262	ENSG00000147262		"""GPCR / Class A : Orphans"""	19060	protein-coding gene	gene with protein product		300513				12044878, 14623098	Standard	NM_178471		Approved	hGPCR2, GPCR2	uc011muv.2	Q8TDV5	OTTHUMG00000022397	ENST00000276218.2:c.903C>G	X.37:g.129518519G>C							p.L301L	NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN			1	992	-			301					Q495H7|Q4VBN3	Silent	SNP	ENST00000276218.2	37	c.903C>G	CCDS14625.1																																																																																				0.552	GPR119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058270.1	NM_178471		7	85	0	0	0	1	0	7	85				
RNF34	80196	broad.mit.edu	37	12	121837952	121837952	+	De_novo_Start_InFrame	SNP	T	T	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr12:121837952T>A	ENST00000392464.2	+	0	6				RP11-711D18.2_ENST00000557474.1_lincRNA|RNF34_ENST00000361234.5_De_novo_Start_InFrame|RNF34_ENST00000392465.3_De_novo_Start_InFrame|RNF34_ENST00000555076.1_De_novo_Start_InFrame					ring finger protein 34, E3 ubiquitin protein ligase											breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		AGGTCGGCAGTGTGAGGAGCT	0.701																																						ENST00000361234.5																			0				breast(1)|large_intestine(1)	2								ring finger protein 34, E3 ubiquitin protein ligase							54.0	66.0	62.0					12																	121837952		692	1591	2283			80196				apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding	g.chr12:121837952T>A	AF306709, AB084914	CCDS9221.1, CCDS31915.1, CCDS73538.1	12q24.31	2012-02-23	2012-02-23			ENSG00000170633		"""RING-type (C3HC4) zinc fingers"""	17297	protein-coding gene	gene with protein product		608299	"""ring finger protein 34"""			12118383	Standard	NM_025126		Approved	RIFF, FLJ21786, RIF	uc001ual.2	Q969K3			12.37:g.121837952T>A						RNF34_ENST00000392464.2_De_novo_Start_InFrame|RNF34_ENST00000392465.3_De_novo_Start_InFrame|RNF34_ENST00000555076.1_De_novo_Start_InFrame		NM_025126.3	NP_079402.2	Q969K3	RNF34_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)	0	109	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)								Translation_Start_Site	SNP	ENST00000392464.2	37																																																																																						0.701	RNF34-005	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000413892.1	NM_194271		3	7	0	0	0	1	0	3	7				
BCAS1	8537	broad.mit.edu	37	20	52645124	52645124	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr20:52645124G>T	ENST00000395961.3	-	4	696	c.530C>A	c.(529-531)aCa>aAa	p.T177K	BCAS1_ENST00000371435.2_Missense_Mutation_p.T177K|BCAS1_ENST00000411563.1_Missense_Mutation_p.T80K|BCAS1_ENST00000371440.3_Missense_Mutation_p.T177K	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	177						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TGCTCCCCCTGTCTCAGGTGG	0.602																																						ENST00000395961.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37						c.(529-531)aCa>aAa		breast carcinoma amplified sequence 1							87.0	93.0	91.0					20																	52645124		2203	4300	6503	SO:0001583	missense	8537					cytoplasm	protein binding	g.chr20:52645124G>T	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.530C>A	20.37:g.52645124G>T	ENSP00000379290:p.Thr177Lys					BCAS1_ENST00000411563.1_Missense_Mutation_p.T80K|BCAS1_ENST00000371435.2_Missense_Mutation_p.T177K|BCAS1_ENST00000371440.3_Missense_Mutation_p.T177K	p.T177K	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		4	696	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		177					A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	c.530C>A	CCDS13444.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.00|14.00	2.404915|2.404915	0.42613|0.42613	.|.	.|.	ENSG00000064787|ENSG00000064787	ENST00000448710|ENST00000448484;ENST00000371440;ENST00000395961;ENST00000371435;ENST00000411563	.|T;T;T;T;T	.|0.06449	.|3.3;3.3;3.3;3.3;3.3	4.98|4.98	3.96|3.96	0.45880|0.45880	.|.	.|1.266200	.|0.05339	.|N	.|0.529786	T|T	0.05181|0.05181	0.0138|0.0138	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B	.|0.19817	.|0.007;0.016;0.016;0.014;0.039;0.039	.|B;B;B;B;B;B	.|0.16289	.|0.009;0.015;0.015;0.01;0.014;0.014	T|T	0.16897|0.16897	-1.0387|-1.0387	5|10	.|0.72032	.|D	.|0.01	0.7619|0.7619	11.3491|11.3491	0.49577|0.49577	0.0:0.2687:0.7313:0.0|0.0:0.2687:0.7313:0.0	.|.	.|80;177;177;177;177;177	.|B4E2C4;B2RCQ5;O75363-2;G3XAF7;A0AVG7;O75363	.|.;.;.;.;.;BCAS1_HUMAN	K|K	56|39;177;177;177;80	.|ENSP00000396361:T39K;ENSP00000360495:T177K;ENSP00000379290:T177K;ENSP00000360490:T177K;ENSP00000397442:T80K	.|ENSP00000360490:T177K	Q|T	-|-	1|2	0|0	BCAS1|BCAS1	52078531|52078531	0.008000|0.008000	0.16893|0.16893	0.010000|0.010000	0.14722|0.14722	0.272000|0.272000	0.26649|0.26649	1.086000|1.086000	0.30853|0.30853	2.462000|2.462000	0.83206|0.83206	0.467000|0.467000	0.42956|0.42956	CAG|ACA		0.602	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		8	148	1	0	5.18039e-06	1	5.66043e-06	8	148				
RLTPR	146206	broad.mit.edu	37	16	67684046	67684046	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr16:67684046C>T	ENST00000334583.6	+	22	2505	c.2177C>T	c.(2176-2178)tCa>tTa	p.S726L	RLTPR_ENST00000545661.1_Missense_Mutation_p.S690L	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	726					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TCAGACCCCTCAGAGCAGGTC	0.602																																						ENST00000334583.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(2176-2178)tCa>tTa		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing							54.0	58.0	57.0					16																	67684046		2030	4173	6203	SO:0001583	missense	146206							g.chr16:67684046C>T	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.2177C>T	16.37:g.67684046C>T	ENSP00000334958:p.Ser726Leu					RLTPR_ENST00000545661.1_Missense_Mutation_p.S690L	p.S726L	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	22	2505	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	726					B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	c.2177C>T	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	C	36	5.847107	0.97023	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.45668	0.89;0.89	5.3	4.35	0.52113	.	0.000000	0.64402	D	0.000006	T	0.57125	0.2032	L	0.57536	1.79	0.41474	D	0.988129	D;D	0.63880	0.993;0.976	D;P	0.72338	0.977;0.62	T	0.57242	-0.7845	10	0.46703	T	0.11	-12.9244	10.8446	0.46737	0.0:0.9114:0.0:0.0886	.	690;726	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	L	726;690	ENSP00000334958:S726L;ENSP00000441481:S690L	ENSP00000334958:S726L	S	+	2	0	RLTPR	66241547	0.949000	0.32298	0.082000	0.20525	0.903000	0.53119	3.653000	0.54446	1.241000	0.43820	0.561000	0.74099	TCA		0.602	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		5	11	0	0	0	1	0	5	11				
C11orf72	100505621	broad.mit.edu	37	11	67372240	67372240	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:67372240G>A	ENST00000333139.3	-	3	541	c.301C>T	c.(301-303)Caa>Taa	p.Q101*	NDUFV1_ENST00000322776.6_5'Flank|RP11-655M14.12_ENST00000533876.1_RNA|NDUFV1_ENST00000415352.2_5'Flank|NDUFV1_ENST00000529927.1_5'Flank|C11orf72_ENST00000446232.1_Nonsense_Mutation_p.Q101*|NDUFV1_ENST00000532303.1_5'Flank			Q8NBR9	CK072_HUMAN	chromosome 11 open reading frame 72	101										central_nervous_system(1)|lung(2)|stomach(1)	4						aggtaaagttgaccagataga	0.542																																						ENST00000333139.3																			0				central_nervous_system(1)|lung(2)|stomach(1)	4						c.(301-303)Caa>Taa		chromosome 11 open reading frame 72							113.0	99.0	104.0					11																	67372240		2200	4295	6495	SO:0001587	stop_gained	100505621							g.chr11:67372240G>A	AK075315		11q13.2	2011-05-24			ENSG00000184224	ENSG00000184224			26915	protein-coding gene	gene with protein product							Standard			Approved	FLJ90834	uc001omi.1	Q8NBR9	OTTHUMG00000156309	ENST00000333139.3:c.301C>T	11.37:g.67372240G>A	ENSP00000328640:p.Gln101*					C11orf72_ENST00000446232.1_Nonsense_Mutation_p.Q101*	p.Q101*			Q8NBR9	CK072_HUMAN			3	541	-			101						Nonsense_Mutation	SNP	ENST00000333139.3	37	c.301C>T		.	.	.	.	.	.	.	.	.	.	g	16.40	3.111607	0.56398	.	.	ENSG00000184224	ENST00000333139;ENST00000446232	.	.	.	2.23	2.23	0.28157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.0527	0.30587	0.0:0.0:1.0:0.0	.	.	.	.	X	101	.	ENSP00000328640:Q101X	Q	-	1	0	C11orf72	67128816	0.000000	0.05858	0.004000	0.12327	0.045000	0.14185	-0.107000	0.10873	1.583000	0.49898	0.401000	0.26515	CAA		0.542	C11orf72-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343852.2	NM_173578		6	31	0	0	0	1	0	6	31				
MMP13	4322	broad.mit.edu	37	11	102826059	102826059	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:102826059C>G	ENST00000260302.3	-	2	312	c.284G>C	c.(283-285)aGa>aCa	p.R95T	MMP13_ENST00000340273.4_Missense_Mutation_p.R95T	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	95					bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	AACCCCGCATCTTGGCTTTTT	0.428																																						ENST00000260302.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27						c.(283-285)aGa>aCa		matrix metallopeptidase 13 (collagenase 3)							129.0	127.0	128.0					11																	102826059		2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102826059C>G	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.284G>C	11.37:g.102826059C>G	ENSP00000260302:p.Arg95Thr					MMP13_ENST00000340273.4_Missense_Mutation_p.R95T	p.R95T	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	2	312	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	95					A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.284G>C	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806293	0.90623	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.58506	0.33;0.33	5.77	5.77	0.91146	Peptidoglycan binding-like (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86255	0.5889	H	0.98068	4.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90465	0.4449	10	0.87932	D	0	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	95	P45452	MMP13_HUMAN	T	95	ENSP00000260302:R95T;ENSP00000339672:R95T	ENSP00000260302:R95T	R	-	2	0	MMP13	102331269	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.776000	0.85560	2.885000	0.99019	0.655000	0.94253	AGA		0.428	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		21	132	0	0	0	1	0	21	132				
WDHD1	11169	broad.mit.edu	37	14	55429793	55429793	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr14:55429793G>C	ENST00000360586.3	-	19	2473	c.2408C>G	c.(2407-2409)tCt>tGt	p.S803C	WDHD1_ENST00000420358.2_Missense_Mutation_p.S680C|WDHD1_ENST00000359167.4_Missense_Mutation_p.S321C|WDHD1_ENST00000421192.1_Missense_Mutation_p.S680C	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	803					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						TAATTTCCGAGAGCGAGAAGC	0.418																																						ENST00000360586.3																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						c.(2407-2409)tCt>tGt		WD repeat and HMG-box DNA binding protein 1							63.0	63.0	63.0					14																	55429793		2203	4300	6503	SO:0001583	missense	11169					cytoplasm|nucleoplasm	DNA binding	g.chr14:55429793G>C	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.2408C>G	14.37:g.55429793G>C	ENSP00000353793:p.Ser803Cys					WDHD1_ENST00000420358.2_Missense_Mutation_p.S680C|WDHD1_ENST00000359167.4_Missense_Mutation_p.S321C|WDHD1_ENST00000421192.1_Missense_Mutation_p.S680C	p.S803C	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN			19	2473	-			803					C9JW18|F6W0U7	Missense_Mutation	SNP	ENST00000360586.3	37	c.2408C>G	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173799	0.57692	.	.	ENSG00000198554	ENST00000360586;ENST00000359167;ENST00000421192	T;T;T	0.62498	0.38;0.86;0.02	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.67353	0.2884	M	0.71581	2.175	0.80722	D	1	P;P	0.48764	0.915;0.545	P;B	0.44946	0.465;0.199	T	0.69343	-0.5170	10	0.38643	T	0.18	.	18.8498	0.92224	0.0:0.0:1.0:0.0	.	321;803	F8W7P7;O75717	.;WDHD1_HUMAN	C	803;321;680	ENSP00000353793:S803C;ENSP00000352085:S321C;ENSP00000391049:S680C	ENSP00000352085:S321C	S	-	2	0	WDHD1	54499543	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	9.103000	0.94232	2.466000	0.83321	0.462000	0.41574	TCT		0.418	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086		12	59	0	0	0	1	0	12	59				
ICT1	3396	broad.mit.edu	37	17	73016661	73016661	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr17:73016661G>A	ENST00000301585.5	+	5	458	c.445G>A	c.(445-447)Gat>Aat	p.D149N		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	149					mitochondrial translational termination (GO:0070126)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)|translation release factor activity, codon nonspecific (GO:0016150)			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					GAATCTGGCAGATTGCCTGCA	0.453																																						ENST00000301585.5																			0				NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6						c.(445-447)Gat>Aat		immature colon carcinoma transcript 1							64.0	65.0	65.0					17																	73016661		2203	4300	6503	SO:0001583	missense	3396				mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific	g.chr17:73016661G>A	X81788	CCDS11711.1	17q25	2014-02-12				ENSG00000167862			5359	protein-coding gene	gene with protein product		603000				8575443, 20186120	Standard	NM_001545		Approved	DS-1	uc002jmm.3	Q14197		ENST00000301585.5:c.445G>A	17.37:g.73016661G>A	ENSP00000301585:p.Asp149Asn						p.D149N	NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN			5	458	+	all_lung(278;0.226)		149					B2RAD1|Q53HM7|Q53Y11	Missense_Mutation	SNP	ENST00000301585.5	37	c.445G>A	CCDS11711.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582476	0.65992	.	.	ENSG00000167862	ENST00000301585	T	0.30714	1.52	5.77	3.77	0.43336	Peptide chain release factor class I/class II (1);	0.559257	0.19906	N	0.103401	T	0.31544	0.0800	L	0.60455	1.87	0.33198	D	0.551812	B	0.21225	0.053	B	0.28385	0.089	T	0.44267	-0.9339	10	0.59425	D	0.04	-8.9545	9.7645	0.40552	0.2254:0.0:0.7746:0.0	.	149	Q14197	ICT1_HUMAN	N	149	ENSP00000301585:D149N	ENSP00000301585:D149N	D	+	1	0	ICT1	70528256	0.985000	0.35326	0.988000	0.46212	0.952000	0.60782	2.956000	0.49129	1.446000	0.47643	0.561000	0.74099	GAT		0.453	ICT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445314.1	NM_001545		6	64	0	0	0	1	0	6	64				
ERLIN2	11160	broad.mit.edu	37	8	37607144	37607144	+	Silent	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr8:37607144C>T	ENST00000276461.5	+	7	559	c.492C>T	c.(490-492)gtC>gtT	p.V164V	ERLIN2_ENST00000519638.1_Silent_p.V164V	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	164					cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CTGGGCTGGTCATTCAAGTAA	0.488																																						ENST00000276461.5																			0				NS(1)|large_intestine(1)|lung(5)	7						c.(490-492)gtC>gtT		ER lipid raft associated 2							104.0	106.0	105.0					8																	37607144		2203	4300	6503	SO:0001819	synonymous_variant	11160				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding	g.chr8:37607144C>T	AY358108	CCDS6095.1, CCDS34879.1	8p11.2	2012-11-23	2007-01-26	2007-01-26	ENSG00000147475	ENSG00000147475			1356	protein-coding gene	gene with protein product		611605	"""chromosome 8 open reading frame 2"", ""SPFH domain family, member 2"""	C8orf2, SPFH2, Erlin-2		10449903, 15897872, 16835267	Standard	NM_007175		Approved	NET32, SPG18	uc003xke.4	O94905	OTTHUMG00000164005	ENST00000276461.5:c.492C>T	8.37:g.37607144C>T						ERLIN2_ENST00000519638.1_Silent_p.V164V	p.V164V	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		7	559	+		Lung NSC(58;0.174)	164					A0JLQ1|A8K5S9|B4DM38|D3DSW0|Q6NW21|Q86VS6|Q86W49	Silent	SNP	ENST00000276461.5	37	c.492C>T	CCDS6095.1																																																																																				0.488	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376712.2	NM_007175		65	198	0	0	0	1	0	65	198				
LPIN2	9663	broad.mit.edu	37	18	2921635	2921635	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr18:2921635C>T	ENST00000261596.4	-	18	2576	c.2338G>A	c.(2338-2340)Gaa>Aaa	p.E780K	RP11-737O24.5_ENST00000608032.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	780	C-LIP.				cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GGTTTCTTTTCTATCACTTCT	0.398																																						ENST00000261596.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29						c.(2338-2340)Gaa>Aaa		lipin 2							75.0	74.0	75.0					18																	2921635		2203	4300	6503	SO:0001583	missense	9663				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity	g.chr18:2921635C>T	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.2338G>A	18.37:g.2921635C>T	ENSP00000261596:p.Glu780Lys						p.E780K	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN		READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)	18	2576	-			780			C-LIP.		A7MD25|D3DUH3	Missense_Mutation	SNP	ENST00000261596.4	37	c.2338G>A	CCDS11829.1	.	.	.	.	.	.	.	.	.	.	C	36	5.703599	0.96812	.	.	ENSG00000101577	ENST00000261596	T	0.76448	-1.02	5.78	5.78	0.91487	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.85682	D	0.000000	D	0.86272	0.5893	M	0.62088	1.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80997	-0.1132	10	0.16420	T	0.52	-28.566	20.0137	0.97470	0.0:1.0:0.0:0.0	.	780	Q92539	LPIN2_HUMAN	K	780	ENSP00000261596:E780K	ENSP00000261596:E780K	E	-	1	0	LPIN2	2911635	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.398000	0.79919	2.734000	0.93682	0.563000	0.77884	GAA		0.398	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646		12	48	0	0	0	1	0	12	48				
PDE4B	5142	broad.mit.edu	37	1	66384409	66384409	+	Silent	SNP	A	A	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:66384409A>C	ENST00000329654.4	+	3	359	c.172A>C	c.(172-174)Aga>Cga	p.R58R	PDE4B_ENST00000371049.3_Silent_p.R58R	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	58					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	ACTGTCTCAAAGACAGAGTGA	0.483																																						ENST00000329654.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37						c.(172-174)Aga>Cga		phosphodiesterase 4B, cAMP-specific	Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)						102.0	97.0	99.0					1																	66384409		2203	4300	6503	SO:0001819	synonymous_variant	5142				signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr1:66384409A>C	L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.172A>C	1.37:g.66384409A>C						PDE4B_ENST00000371049.3_Silent_p.R58R	p.R58R	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN			3	359	+			58					A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Silent	SNP	ENST00000329654.4	37	c.172A>C	CCDS632.1																																																																																				0.483	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600		7	60	0	0	0	1	0	7	60				
CEP350	9857	broad.mit.edu	37	1	179989910	179989910	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:179989910G>A	ENST00000367607.3	+	12	3419	c.3001G>A	c.(3001-3003)Gat>Aat	p.D1001N		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1001					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GGGAGACCAGGATGGACAGCC	0.408																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(3001-3003)Gat>Aat		centrosomal protein 350kDa							81.0	90.0	87.0					1																	179989910		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:179989910G>A	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.3001G>A	1.37:g.179989910G>A	ENSP00000356579:p.Asp1001Asn						p.D1001N	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			12	3419	+			1001					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.3001G>A	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	4.684	0.127164	0.08981	.	.	ENSG00000135837	ENST00000367607	T	0.57107	0.42	6.02	0.782	0.18567	.	0.601209	0.14652	N	0.306548	T	0.29850	0.0746	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.18147	-1.0346	9	.	.	.	.	7.869	0.29554	0.2577:0.3423:0.4:0.0	.	1001;1001	E7EU22;Q5VT06	.;CE350_HUMAN	N	1001	ENSP00000356579:D1001N	.	D	+	1	0	CEP350	178256533	0.000000	0.05858	0.000000	0.03702	0.457000	0.32468	-0.037000	0.12164	-0.326000	0.08564	-1.872000	0.00552	GAT		0.408	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		9	104	0	0	0	1	0	9	104				
ABCB5	340273	broad.mit.edu	37	7	20682903	20682903	+	Silent	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr7:20682903G>A	ENST00000404938.2	+	6	1063	c.411G>A	c.(409-411)aaG>aaA	p.K137K		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	137	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GACAGACCAAGAGGATTCGAA	0.423																																						ENST00000404938.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(409-411)aaG>aaA		ATP-binding cassette, sub-family B (MDR/TAP), member 5							98.0	82.0	87.0					7																	20682903		1568	3582	5150	SO:0001819	synonymous_variant	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20682903G>A	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.411G>A	7.37:g.20682903G>A							p.K137K	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			6	1063	+			321			ABC transporter 1.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	ENST00000404938.2	37	c.411G>A	CCDS55090.1																																																																																				0.423	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		4	47	0	0	0	1	0	4	47				
ESD	2098	broad.mit.edu	37	13	47354167	47354167	+	Splice_Site	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr13:47354167G>A	ENST00000378720.3	-	8	685	c.503C>T	c.(502-504)tCt>tTt	p.S168F	ESD_ENST00000378697.1_Splice_Site_p.S139F|ESD_ENST00000495654.1_5'UTR	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	168					formaldehyde catabolic process (GO:0046294)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carboxylic ester hydrolase activity (GO:0052689)|hydrolase activity, acting on ester bonds (GO:0016788)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)|S-formylglutathione hydrolase activity (GO:0018738)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	TGCTGACACAGACTTCAGAAA	0.318																																						ENST00000378720.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9						c.e8-1		esterase D	Glutathione(DB00143)						76.0	77.0	76.0					13																	47354167		2203	4299	6502	SO:0001630	splice_region_variant	2098					cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity	g.chr13:47354167G>A	M13450	CCDS9404.1	13q14.1-q14.2	2014-05-13	2010-05-07		ENSG00000139684	ENSG00000139684	3.1.2.12		3465	protein-coding gene	gene with protein product	"""S-formylglutathione hydrolase"""	133280	"""esterase D/formylglutathione hydrolase"""				Standard	NM_001984		Approved		uc001vbn.3	P10768	OTTHUMG00000016878	ENST00000378720.3:c.502-1C>T	13.37:g.47354167G>A						ESD_ENST00000495654.1_5'UTR|ESD_ENST00000378697.1_Splice_Site_p.S139_splice	p.S168_splice	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN		GBM - Glioblastoma multiforme(144;2.66e-05)	8	685	-		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	168					Q5TBU8|Q5TBV0|Q5TBV2|Q9BVJ2	Splice_Site	SNP	ENST00000378720.3	37	c.501_splice	CCDS9404.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908201	0.92107	.	.	ENSG00000139684	ENST00000378720;ENST00000378697	T;T	0.33216	1.42;1.42	6.16	6.16	0.99307	.	0.388530	0.28989	N	0.013494	T	0.70928	0.3280	H	0.96547	3.84	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79115	-0.1936	10	0.87932	D	0	-26.1045	19.4379	0.94804	0.0:0.0:1.0:0.0	.	168	P10768	ESTD_HUMAN	F	168;139	ENSP00000367992:S168F;ENSP00000367969:S139F	ENSP00000367969:S139F	S	-	2	0	ESD	46252168	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.686000	0.98664	2.937000	0.99478	0.650000	0.86243	TCT		0.318	ESD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044826.1		Missense_Mutation	25	94	0	0	0	1	0	25	94				
FNDC3B	64778	broad.mit.edu	37	3	172046834	172046834	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr3:172046834C>A	ENST00000336824.4	+	12	1446	c.1347C>A	c.(1345-1347)ttC>ttA	p.F449L	FNDC3B_ENST00000416957.1_Missense_Mutation_p.F449L|FNDC3B_ENST00000415807.2_Missense_Mutation_p.F449L	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	449	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GGTACACATTCAGGCTGGCCG	0.483																																						ENST00000336824.4																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69						c.(1345-1347)ttC>ttA		fibronectin type III domain containing 3B							154.0	146.0	149.0					3																	172046834		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:172046834C>A	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.1347C>A	3.37:g.172046834C>A	ENSP00000338523:p.Phe449Leu					FNDC3B_ENST00000416957.1_Missense_Mutation_p.F449L|FNDC3B_ENST00000415807.2_Missense_Mutation_p.F449L	p.F449L	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	12	1446	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		449			Fibronectin type-III 2.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.1347C>A	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763979	0.89932	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.59906	0.23;0.23;0.23	5.63	5.63	0.86233	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.78780	0.4337	M	0.81942	2.565	0.80722	D	1	P;P	0.51791	0.948;0.531	D;P	0.70716	0.97;0.667	T	0.79090	-0.1946	10	0.59425	D	0.04	-23.0074	20.0531	0.97636	0.0:1.0:0.0:0.0	.	449;449	Q53EP0-2;Q53EP0	.;FND3B_HUMAN	L	449	ENSP00000411242:F449L;ENSP00000338523:F449L;ENSP00000389094:F449L	ENSP00000338523:F449L	F	+	3	2	FNDC3B	173529528	1.000000	0.71417	0.998000	0.56505	0.874000	0.50279	3.462000	0.53042	2.825000	0.97269	0.655000	0.94253	TTC		0.483	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		5	174	1	0	0.000602214	1	0.000633556	5	174				
SLC30A6	55676	broad.mit.edu	37	2	32434586	32434586	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:32434586G>A	ENST00000282587.5	+	13	878	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	SLC30A6_ENST00000379343.2_Missense_Mutation_p.E321K|SLC30A6_ENST00000435660.1_Intron|SLC30A6_ENST00000538303.1_Missense_Mutation_p.E252K|SLC30A6_ENST00000406369.1_Missense_Mutation_p.E207K|SLC30A6_ENST00000357055.3_Missense_Mutation_p.E84K	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	281					cellular protein metabolic process (GO:0044267)|Golgi to endosome transport (GO:0006895)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGGAGTTTTAGAAGTCCGAAA	0.328																																						ENST00000282587.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(841-843)Gaa>Aaa		solute carrier family 30 (zinc transporter), member 6							179.0	173.0	175.0					2																	32434586		2203	4300	6503	SO:0001583	missense	55676					Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity	g.chr2:32434586G>A	AK055663	CCDS1780.1, CCDS54341.1, CCDS54342.1, CCDS54343.1	2p22.3	2013-05-22			ENSG00000152683	ENSG00000152683		"""Solute carriers"""	19305	protein-coding gene	gene with protein product		611148					Standard	NM_017964		Approved	FLJ31101, ZNT6	uc002rof.2	Q6NXT4	OTTHUMG00000128456	ENST00000282587.5:c.841G>A	2.37:g.32434586G>A	ENSP00000282587:p.Glu281Lys					SLC30A6_ENST00000435660.1_Intron|SLC30A6_ENST00000406369.1_Missense_Mutation_p.E207K|SLC30A6_ENST00000379343.2_Missense_Mutation_p.E321K|SLC30A6_ENST00000357055.3_Missense_Mutation_p.E84K|SLC30A6_ENST00000538303.1_Missense_Mutation_p.E252K	p.E281K	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN			13	878	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		281					A5YM45|B7Z901|Q8N5C9|Q96NC3	Missense_Mutation	SNP	ENST00000282587.5	37	c.841G>A	CCDS1780.1	.	.	.	.	.	.	.	.	.	.	G	35	5.445734	0.96187	.	.	ENSG00000152683	ENST00000379343;ENST00000282587;ENST00000538303;ENST00000357055;ENST00000406369	T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.80470	0.4629	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	0.969;0.992;1.0	D;D;D	0.91635	0.928;0.979;0.999	T	0.80241	-0.1464	10	0.46703	T	0.11	-16.1484	19.0866	0.93204	0.0:0.0:1.0:0.0	.	252;321;281	B7Z901;Q6NXT4-2;Q6NXT4	.;.;ZNT6_HUMAN	K	321;281;252;84;207	ENSP00000368648:E321K;ENSP00000282587:E281K;ENSP00000440678:E252K;ENSP00000349563:E84K;ENSP00000384041:E207K	ENSP00000282587:E281K	E	+	1	0	SLC30A6	32288090	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.695000	0.91298	2.596000	0.87737	0.655000	0.94253	GAA		0.328	SLC30A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250254.2			14	129	0	0	0	1	0	14	129				
POLA1	5422	broad.mit.edu	37	X	24844702	24844702	+	Silent	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chrX:24844702C>T	ENST00000379059.3	+	32	3717	c.3702C>T	c.(3700-3702)ctC>ctT	p.L1234L	POLA1_ENST00000379068.3_Silent_p.L1240L	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1234					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	ATGCTGTCCTCATTGCAACGT	0.493																																						ENST00000379068.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11						c.(3718-3720)ctC>ctT		polymerase (DNA directed), alpha 1, catalytic subunit	Clofarabine(DB00631)|Fludarabine(DB01073)						166.0	102.0	124.0					X																	24844702		2203	4300	6503	SO:0001819	synonymous_variant	5422				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	g.chrX:24844702C>T		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.3702C>T	X.37:g.24844702C>T						POLA1_ENST00000379059.3_Silent_p.L1234L	p.L1240L			P09884	DPOLA_HUMAN			32	3763	+			1234					Q86UQ7	Silent	SNP	ENST00000379059.3	37	c.3720C>T	CCDS14214.1																																																																																				0.493	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937		3	30	0	0	0	1	0	3	30				
COL12A1	1303	broad.mit.edu	37	6	75839860	75839860	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr6:75839860G>C	ENST00000322507.8	-	37	6466	c.6157C>G	c.(6157-6159)Cag>Gag	p.Q2053E	COL12A1_ENST00000416123.2_Missense_Mutation_p.Q2053E|COL12A1_ENST00000345356.6_Missense_Mutation_p.Q889E|COL12A1_ENST00000483888.2_Missense_Mutation_p.Q2053E	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2053	Fibronectin type-III 16. {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						CTGTACTGCTGAACTGGCCCA	0.423																																						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.(6157-6159)Cag>Gag		collagen, type XII, alpha 1							139.0	136.0	137.0					6																	75839860		1920	4131	6051	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.chr6:75839860G>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.6157C>G	6.37:g.75839860G>C	ENSP00000325146:p.Gln2053Glu					COL12A1_ENST00000345356.6_Missense_Mutation_p.Q889E|COL12A1_ENST00000483888.2_Missense_Mutation_p.Q2053E|COL12A1_ENST00000416123.2_Missense_Mutation_p.Q2053E	p.Q2053E	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			37	6466	-			2053			Fibronectin type-III 16.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.6157C>G	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.611557	0.46631	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	6.02	6.02	0.97574	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.367160	0.29126	N	0.013063	T	0.47563	0.1452	L	0.45137	1.4	0.41943	D	0.990623	P;P	0.46621	0.856;0.881	P;P	0.53450	0.501;0.726	T	0.25467	-1.0131	10	0.09590	T	0.72	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	889;2053	Q99715-2;Q99715	.;COCA1_HUMAN	E	2053;2053;889;2053;2053	ENSP00000325146:Q2053E;ENSP00000305147:Q889E;ENSP00000412864:Q2053E;ENSP00000421216:Q2053E	ENSP00000325146:Q2053E	Q	-	1	0	COL12A1	75896580	1.000000	0.71417	1.000000	0.80357	0.080000	0.17528	3.915000	0.56409	2.865000	0.98341	0.655000	0.94253	CAG		0.423	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		6	68	0	0	0	1	0	6	68				
PCDH17	27253	broad.mit.edu	37	13	58208458	58208458	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr13:58208458C>T	ENST00000377918.3	+	1	1804	c.1778C>T	c.(1777-1779)gCg>gTg	p.A593V		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	593	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AACGACACCGCGGAGCTGCAG	0.657																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(1777-1779)gCg>gTg		protocadherin 17							31.0	30.0	30.0					13																	58208458		2201	4298	6499	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208458C>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1778C>T	13.37:g.58208458C>T	ENSP00000367151:p.Ala593Val						p.A593V	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1804	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	593			Cadherin 6.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.1778C>T	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.393447	0.62066	.	.	ENSG00000118946	ENST00000377918	T	0.58506	0.33	5.63	5.63	0.86233	Cadherin (2);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.80439	0.4623	M	0.87180	2.865	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.81914	0.991;0.995	T	0.82147	-0.0601	9	.	.	.	.	19.6692	0.95905	0.0:1.0:0.0:0.0	.	593;593	O14917-2;O14917	.;PCD17_HUMAN	V	593	ENSP00000367151:A593V	.	A	+	2	0	PCDH17	57106459	1.000000	0.71417	0.915000	0.36163	0.991000	0.79684	5.999000	0.70665	2.650000	0.89964	0.561000	0.74099	GCG		0.657	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		7	48	0	0	0	1	0	7	48				
PDE6B	5158	broad.mit.edu	37	4	647878	647878	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr4:647878G>C	ENST00000496514.1	+	5	883	c.862G>C	c.(862-864)Gac>Cac	p.D288H	PDE6B_ENST00000429163.2_Missense_Mutation_p.D9H|PDE6B_ENST00000255622.6_Missense_Mutation_p.D288H|RP11-1191J2.2_ENST00000489312.1_RNA|RP11-1191J2.2_ENST00000598370.1_RNA|RP11-1191J2.2_ENST00000599030.1_RNA|RP11-1191J2.2_ENST00000468356.1_RNA			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	288	GAF 2.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	GGAATTTTTTGACGTGTGGTC	0.667																																					GBM(71;463 1194 9848 25922 46834)	ENST00000255622.6																			0				NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						c.(862-864)Gac>Cac		phosphodiesterase 6B, cGMP-specific, rod, beta							61.0	65.0	64.0					4																	647878		2203	4299	6502	SO:0001583	missense	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:647878G>C	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.862G>C	4.37:g.647878G>C	ENSP00000420295:p.Asp288His					RP11-1191J2.2_ENST00000489312.1_RNA|PDE6B_ENST00000496514.1_Missense_Mutation_p.D288H|RP11-1191J2.2_ENST00000468356.1_RNA|PDE6B_ENST00000429163.2_Missense_Mutation_p.D9H	p.D288H	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN			5	905	+			288			GAF 2.		B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	37	c.862G>C	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	G	30	5.057302	0.93846	.	.	ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000465426;ENST00000487902;ENST00000429163	T;T;T;T;T	0.78707	-0.16;-0.16;-0.92;-1.2;-0.73	5.1	5.1	0.69264	GAF (2);	0.171732	0.51477	D	0.000090	D	0.88228	0.6380	M	0.83384	2.64	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.81914	0.995;0.991;0.985	D	0.87974	0.2738	10	0.38643	T	0.18	.	16.0314	0.80579	0.0:0.0:1.0:0.0	.	9;288;288	B4DHV7;P35913;P35913-2	.;PDE6B_HUMAN;.	H	288;288;9;9;9	ENSP00000255622:D288H;ENSP00000420295:D288H;ENSP00000418454:D9H;ENSP00000418256:D9H;ENSP00000406334:D9H	ENSP00000255622:D288H	D	+	1	0	PDE6B	637878	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	9.462000	0.97649	2.368000	0.80403	0.643000	0.83706	GAC		0.667	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		6	75	0	0	0	1	0	6	75				
MPP6	51678	broad.mit.edu	37	7	24720071	24720071	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr7:24720071G>A	ENST00000222644.5	+	11	1628	c.1378G>A	c.(1378-1380)Gag>Aag	p.E460K	MPP6_ENST00000409761.1_Missense_Mutation_p.E348K|MPP6_ENST00000396475.2_Missense_Mutation_p.E460K			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TGCGGCTCCGGAGCTAGAGAC	0.413																																						ENST00000396475.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						c.(1378-1380)Gag>Aag		membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)							161.0	148.0	152.0					7																	24720071		2203	4300	6503	SO:0001583	missense	51678				protein complex assembly		protein binding	g.chr7:24720071G>A	AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.1378G>A	7.37:g.24720071G>A	ENSP00000222644:p.Glu460Lys					MPP6_ENST00000222644.4_Missense_Mutation_p.E460K|MPP6_ENST00000409761.1_Missense_Mutation_p.E348K	p.E460K	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN			12	1677	+			460			Guanylate kinase-like.		B2RAF0	Missense_Mutation	SNP	ENST00000222644.5	37	c.1378G>A	CCDS5388.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904824	0.52333	.	.	ENSG00000105926	ENST00000222644;ENST00000409761;ENST00000396475	T;T;T	0.41758	0.99;0.99;0.99	5.43	5.43	0.79202	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.52532	D	0.000061	T	0.35941	0.0949	L	0.31476	0.935	0.80722	D	1	B	0.19583	0.037	B	0.21360	0.034	T	0.07158	-1.0787	10	0.33141	T	0.24	.	19.2417	0.93887	0.0:0.0:1.0:0.0	.	460	Q9NZW5	MPP6_HUMAN	K	460;348;460	ENSP00000222644:E460K;ENSP00000386262:E348K;ENSP00000379737:E460K	ENSP00000222644:E460K	E	+	1	0	MPP6	24686596	1.000000	0.71417	0.994000	0.49952	0.957000	0.61999	7.863000	0.87023	2.541000	0.85698	0.561000	0.74099	GAG		0.413	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4			21	110	0	0	0	1	0	21	110				
FAM171A1	221061	broad.mit.edu	37	10	15325940	15325940	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr10:15325940C>A	ENST00000378116.4	-	2	268	c.262G>T	c.(262-264)Gtc>Ttc	p.V88F		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	88						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GAGGCGGTGACAATCAACTGA	0.542																																						ENST00000378116.4																			0				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(262-264)Gtc>Ttc		family with sequence similarity 171, member A1							109.0	91.0	97.0					10																	15325940		2203	4300	6503	SO:0001583	missense	221061					integral to membrane		g.chr10:15325940C>A	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.262G>T	10.37:g.15325940C>A	ENSP00000367356:p.Val88Phe						p.V88F	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN			2	268	-			88					D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	c.262G>T	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869050	0.91587	.	.	ENSG00000148468	ENST00000378116;ENST00000378114;ENST00000396781;ENST00000455654	T;T	0.44881	0.91;0.91	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.66694	0.2815	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70813	-0.4770	10	0.87932	D	0	-31.1363	18.806	0.92037	0.0:1.0:0.0:0.0	.	88	Q5VUB5	F1711_HUMAN	F	88;88;89;88	ENSP00000367356:V88F;ENSP00000407796:V88F	ENSP00000367354:V88F	V	-	1	0	FAM171A1	15365946	1.000000	0.71417	0.989000	0.46669	0.876000	0.50452	4.548000	0.60718	2.510000	0.84645	0.591000	0.81541	GTC		0.542	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		12	75	1	0	1.49906e-05	1	1.62542e-05	12	75				
FLNC	2318	broad.mit.edu	37	7	128489448	128489448	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr7:128489448C>A	ENST00000325888.8	+	30	5276	c.5015C>A	c.(5014-5016)gCa>gAa	p.A1672E	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.A1672E	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1672					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GATGCCAAGGCAGCCGGTGAG	0.617																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(5014-5016)gCa>gAa		filamin C, gamma							77.0	87.0	84.0					7																	128489448		2169	4265	6434	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128489448C>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5015C>A	7.37:g.128489448C>A	ENSP00000327145:p.Ala1672Glu					FLNC_ENST00000346177.6_Missense_Mutation_p.A1672E	p.A1672E	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			30	5276	+			1672					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.5015C>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068358	0.76301	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.83992	-1.79;-1.79	5.41	5.41	0.78517	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87079	0.6088	L	0.31157	0.91	0.52099	D	0.999944	D;P	0.89917	1.0;0.585	D;B	0.91635	0.999;0.403	D	0.87679	0.2546	10	0.52906	T	0.07	.	19.215	0.93772	0.0:1.0:0.0:0.0	.	1672;1672	Q14315-2;Q14315	.;FLNC_HUMAN	E	1672	ENSP00000327145:A1672E;ENSP00000344002:A1672E	ENSP00000327145:A1672E	A	+	2	0	FLNC	128276684	1.000000	0.71417	0.992000	0.48379	0.987000	0.75469	4.742000	0.62103	2.539000	0.85634	0.655000	0.94253	GCA		0.617	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			5	47	1	0	0.0215528	1	0.0219404	5	47				
ZNF10	7556	broad.mit.edu	37	12	133727683	133727683	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr12:133727683C>T	ENST00000248211.6	+	3	325	c.103C>T	c.(103-105)Cag>Tag	p.Q35*	ZNF10_ENST00000540927.1_3'UTR|ZNF10_ENST00000426665.2_Nonsense_Mutation_p.Q35*|ZNF10_ENST00000402932.2_Nonsense_Mutation_p.Q35*|ZNF268_ENST00000416488.1_Nonsense_Mutation_p.Q35*|CTD-2140B24.4_ENST00000540096.2_Nonsense_Mutation_p.Q35*	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	35	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GGACACTGCTCAGCAGATCGT	0.443																																						ENST00000248211.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26						c.(103-105)Cag>Tag		zinc finger protein 10							245.0	219.0	228.0					12																	133727683		2203	4300	6503	SO:0001587	stop_gained	7556				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:133727683C>T	X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"""Zinc fingers, C2H2-type"", ""-"""	12879	protein-coding gene	gene with protein product		194538	"""zinc finger protein 10 (KOX 1)"""			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.103C>T	12.37:g.133727683C>T	ENSP00000248211:p.Gln35*					ZNF268_ENST00000416488.1_Nonsense_Mutation_p.Q35*|CTD-2140B24.4_ENST00000540096.2_Nonsense_Mutation_p.Q35*|ZNF10_ENST00000426665.2_Nonsense_Mutation_p.Q35*|ZNF10_ENST00000402932.2_Nonsense_Mutation_p.Q35*|ZNF10_ENST00000540927.1_3'UTR	p.Q35*	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	3	325	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)	35			KRAB.		B2RBS1|Q8TC91	Nonsense_Mutation	SNP	ENST00000248211.6	37	c.103C>T	CCDS9283.1	.	.	.	.	.	.	.	.	.	.	C	38	7.267039	0.98175	.	.	ENSG00000256223;ENSG00000256223;ENSG00000256223;ENSG00000256223;ENSG00000256223;ENSG00000256223;ENSG00000090612	ENST00000538918;ENST00000540609;ENST00000248211;ENST00000536877;ENST00000426665;ENST00000402932;ENST00000416488	.	.	.	3.49	3.49	0.39957	.	0.000000	0.31233	N	0.008011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3011	0.66352	0.0:1.0:0.0:0.0	.	.	.	.	X	35	.	.	Q	+	1	0	ZNF10;ZNF268	132237756	0.994000	0.37717	0.976000	0.42696	0.980000	0.70556	3.465000	0.53064	1.951000	0.56629	0.462000	0.41574	CAG		0.443	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397182.1	NM_015394		16	90	0	0	0	1	0	16	90				
DPP3	10072	broad.mit.edu	37	11	66276608	66276608	+	Missense_Mutation	SNP	C	C	G	rs139936930		TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:66276608C>G	ENST00000360510.2	+	18	2165	c.2100C>G	c.(2098-2100)ttC>ttG	p.F700L	BBS1_ENST00000393994.2_5'Flank|CTD-3074O7.11_ENST00000419755.3_5'UTR|BBS1_ENST00000455748.2_5'Flank|DPP3_ENST00000530165.1_Missense_Mutation_p.F670L|DPP3_ENST00000453114.1_Missense_Mutation_p.F700L|DPP3_ENST00000541961.1_Missense_Mutation_p.F700L|DPP3_ENST00000531863.1_Missense_Mutation_p.F720L|BBS1_ENST00000537537.1_5'Flank|BBS1_ENST00000318312.7_5'Flank|DPP3_ENST00000532677.1_Missense_Mutation_p.F719L			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	700					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.F700F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCCGATCCTTCTCTGAGCGTT	0.592																																						ENST00000532677.1																			1	Substitution - coding silent(1)	p.F700F(1)	skin(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(2155-2157)ttC>ttG		dipeptidyl-peptidase 3							72.0	68.0	69.0					11																	66276608		2200	4295	6495	SO:0001583	missense	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66276608C>G	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.2100C>G	11.37:g.66276608C>G	ENSP00000353701:p.Phe700Leu					DPP3_ENST00000530165.1_Missense_Mutation_p.F670L|DPP3_ENST00000531863.1_Missense_Mutation_p.F720L|CTD-3074O7.11_ENST00000419755.3_5'UTR|DPP3_ENST00000360510.2_Missense_Mutation_p.F700L|DPP3_ENST00000541961.1_Missense_Mutation_p.F700L|DPP3_ENST00000453114.1_Missense_Mutation_p.F700L	p.F719L	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN			18	2558	+			700					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	37	c.2157C>G	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233048	0.79688	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000543807;ENST00000347422	T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93	5.09	5.09	0.68999	.	0.054229	0.85682	D	0.000000	T	0.48926	0.1527	M	0.80746	2.51	0.48341	D	0.999635	D;P	0.61080	0.989;0.95	P;P	0.59595	0.746;0.86	T	0.54892	-0.8225	10	0.87932	D	0	.	14.0552	0.64764	0.0:1.0:0.0:0.0	.	719;700	G3V1D3;Q9NY33	.;DPP3_HUMAN	L	720;719;700;700;700;670;598;280	ENSP00000432782:F720L;ENSP00000435284:F719L;ENSP00000353701:F700L;ENSP00000389943:F700L;ENSP00000440502:F700L;ENSP00000436941:F670L	ENSP00000309957:F280L	F	+	3	2	DPP3	66033184	0.981000	0.34729	0.979000	0.43373	0.736000	0.42039	2.111000	0.41883	2.387000	0.81309	0.555000	0.69702	TTC		0.592	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			9	53	0	0	0	1	0	9	53				
NAE1	8883	broad.mit.edu	37	16	66847750	66847750	+	Splice_Site	SNP	C	C	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr16:66847750C>A	ENST00000290810.3	-	12	938		c.e12-1		NAE1_ENST00000359087.4_Splice_Site|NAE1_ENST00000379463.2_Splice_Site|NAE1_ENST00000394074.2_Splice_Site			Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1						mitotic DNA replication checkpoint (GO:0033314)|neuron apoptotic process (GO:0051402)|protein neddylation (GO:0045116)|regulation of apoptotic process (GO:0042981)|regulation of neuron apoptotic process (GO:0043523)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|protein heterodimerization activity (GO:0046982)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TGCTTGGGATCTAACAAAGGA	0.303																																						ENST00000379463.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.e13-1		NEDD8 activating enzyme E1 subunit 1	Adenosine triphosphate(DB00171)						131.0	130.0	131.0					16																	66847750		2199	4299	6498	SO:0001630	splice_region_variant	8883				apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity	g.chr16:66847750C>A	U50939	CCDS10820.1, CCDS42171.1, CCDS42172.1, CCDS67050.1	16q22	2013-09-26	2007-12-11	2007-12-11	ENSG00000159593	ENSG00000159593		"""Ubiquitin-like modifier activating enzymes"""	621	protein-coding gene	gene with protein product		603385	"""amyloid beta precursor protein binding protein 1, 59kDa"""	APPBP1		8626687, 12740388	Standard	XM_005256215		Approved	ula-1	uc002eqf.3	Q13564	OTTHUMG00000137513	ENST00000290810.3:c.841-1G>T	16.37:g.66847750C>A						NAE1_ENST00000394074.2_Splice_Site|NAE1_ENST00000359087.4_Splice_Site|NAE1_ENST00000290810.3_Splice_Site		NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	13	1015	-		Ovarian(137;0.0563)						A6NCK0|A6NFN4|A8MU28|B2R700|B3KUP9	Splice_Site	SNP	ENST00000290810.3	37		CCDS10820.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455445	0.84209	.	.	ENSG00000159593	ENST00000359087;ENST00000290810;ENST00000379463;ENST00000394074	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3661	0.94461	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NAE1	65405251	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.028000	0.76470	2.555000	0.86185	0.561000	0.74099	.		0.303	NAE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268832.1	NM_003905	Intron	4	70	1	0	1	1	1	4	70				
UBE2D4	51619	broad.mit.edu	37	7	43992254	43992254	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr7:43992254A>T	ENST00000222402.3	+	7	493	c.404A>T	c.(403-405)aAc>aTc	p.N135I	UBE2D4_ENST00000394798.4_Missense_Mutation_p.N97I|POLR2J4_ENST00000427076.1_RNA|RP5-1165K10.2_ENST00000454572.1_RNA	NM_015983.3	NP_057067.1	Q9Y2X8	UB2D4_HUMAN	ubiquitin-conjugating enzyme E2D 4 (putative)	135					protein K11-linked ubiquitination (GO:0070979)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)	5						TCCAGGTACAACAGACTAGCA	0.463																																					Esophageal Squamous(27;401 815 16344 30604)	ENST00000222402.2																			0				endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)	5						c.(403-405)aAc>aTc		ubiquitin-conjugating enzyme E2D 4 (putative)							159.0	158.0	159.0					7																	43992254		2203	4300	6503	SO:0001583	missense	51619				protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr7:43992254A>T	BC004104	CCDS5474.1	7p13	2005-08-11			ENSG00000078967	ENSG00000078967		"""Ubiquitin-conjugating enzymes E2"""	21647	protein-coding gene	gene with protein product						12690205	Standard	NM_015983		Approved	HBUCE1	uc003tja.2	Q9Y2X8	OTTHUMG00000128971	ENST00000222402.3:c.404A>T	7.37:g.43992254A>T	ENSP00000222402:p.Asn135Ile					UBE2D4_ENST00000394798.4_Missense_Mutation_p.N97I|POLR2J4_ENST00000427076.1_RNA	p.N135I	NM_015983.3	NP_057067.1	Q9Y2X8	UB2D4_HUMAN			7	493	+			135					A4D1V0	Missense_Mutation	SNP	ENST00000222402.3	37	c.404A>T	CCDS5474.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.31|15.31	2.796752|2.796752	0.50208|0.50208	.|.	.|.	ENSG00000078967|ENSG00000078967	ENST00000222402;ENST00000394798|ENST00000473007	T;T|.	0.38560|.	1.13;1.13|.	4.38|4.38	3.21|3.21	0.36854|0.36854	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);|.	1.022030|.	0.07831|.	N|.	0.961343|.	T|T	0.40067|0.40067	0.1102|0.1102	L|L	0.28344|0.28344	0.845|0.845	0.53688|0.53688	D|D	0.999977|0.999977	B;B|.	0.18461|.	0.012;0.028|.	B;B|.	0.24541|.	0.054;0.054|.	T|T	0.07252|0.07252	-1.0782|-1.0782	10|6	0.87932|0.17369	D|T	0|0.5	.|.	8.0153|8.0153	0.30376|0.30376	0.8995:0.0:0.1005:0.0|0.8995:0.0:0.1005:0.0	.|.	97;135|.	Q9UQL0;Q9Y2X8|.	.;UB2D4_HUMAN|.	I|S	135;97|38	ENSP00000222402:N135I;ENSP00000378277:N97I|.	ENSP00000222402:N135I|ENSP00000442350:T38S	N|T	+|+	2|1	0|0	UBE2D4|UBE2D4	43958779|43958779	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.066000|4.066000	0.57520|0.57520	0.548000|0.548000	0.28955|0.28955	0.533000|0.533000	0.62120|0.62120	AAC|ACA		0.463	UBE2D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250958.2	NM_015983		5	156	0	0	0	1	0	5	156				
PPARD	5467	broad.mit.edu	37	6	35393642	35393642	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr6:35393642A>T	ENST00000311565.4	+	9	1461	c.1112A>T	c.(1111-1113)gAg>gTg	p.E371V	PPARD_ENST00000418635.2_Missense_Mutation_p.E273V|PPARD_ENST00000540939.1_Missense_Mutation_p.E268V|PPARD_ENST00000360694.3_Missense_Mutation_p.E371V|PPARD_ENST00000448077.2_Missense_Mutation_p.E332V	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	371	Ligand-binding.				adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	CCACGGGTGGAGGCTATCCAG	0.622																																						ENST00000311565.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(1111-1113)gAg>gTg		peroxisome proliferator-activated receptor delta	Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)						104.0	93.0	97.0					6																	35393642		2203	4300	6503	SO:0001583	missense	5467				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr6:35393642A>T	L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"""Nuclear hormone receptors"""	9235	protein-coding gene	gene with protein product		600409	"""peroxisome proliferative activated receptor, delta"""			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.1112A>T	6.37:g.35393642A>T	ENSP00000310928:p.Glu371Val					PPARD_ENST00000448077.2_Missense_Mutation_p.E332V|PPARD_ENST00000418635.2_Missense_Mutation_p.E273V|PPARD_ENST00000360694.3_Missense_Mutation_p.E371V|PPARD_ENST00000540939.1_Missense_Mutation_p.E268V	p.E371V	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN			9	1461	+			371			Ligand-binding.		A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Missense_Mutation	SNP	ENST00000311565.4	37	c.1112A>T	CCDS4803.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.829039	0.90955	.	.	ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000418635;ENST00000311565;ENST00000540939	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	5.01	5.01	0.66863	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.099165	0.64402	D	0.000002	D	0.90738	0.7093	H	0.96691	3.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.93846	0.7141	10	0.87932	D	0	.	14.8028	0.69929	1.0:0.0:0.0:0.0	.	273;332;371	E9PE18;B7Z3W1;Q03181	.;.;PPARD_HUMAN	V	332;371;273;371;268	ENSP00000414372:E332V;ENSP00000353916:E371V;ENSP00000413314:E273V;ENSP00000310928:E371V;ENSP00000443759:E268V	ENSP00000310928:E371V	E	+	2	0	PPARD	35501620	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.296000	0.96104	1.894000	0.54839	0.454000	0.30748	GAG		0.622	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1	NM_006238		8	64	0	0	0	1	0	8	64				
DMTF1	9988	broad.mit.edu	37	7	86794265	86794265	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr7:86794265C>G	ENST00000394703.5	+	5	571	c.8C>G	c.(7-9)aCa>aGa	p.T3R	DMTF1_ENST00000331242.7_Missense_Mutation_p.T3R|DMTF1_ENST00000394702.3_Missense_Mutation_p.T3R|DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000411766.2_Missense_Mutation_p.T3R|DMTF1_ENST00000432937.2_Intron|DMTF1_ENST00000413276.2_Missense_Mutation_p.T3R	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	3	Interaction with CCND2. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					AGTATGAGCACAGTGGAAGAG	0.393																																						ENST00000394703.5																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16						c.(7-9)aCa>aGa		cyclin D binding myb-like transcription factor 1							83.0	72.0	76.0					7																	86794265		2203	4300	6503	SO:0001583	missense	9988				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:86794265C>G	AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"""cyclin D-binding Myb-like protein"""	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.8C>G	7.37:g.86794265C>G	ENSP00000378193:p.Thr3Arg					DMTF1_ENST00000413276.2_Missense_Mutation_p.T3R|DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000432937.2_Intron|DMTF1_ENST00000331242.7_Missense_Mutation_p.T3R|DMTF1_ENST00000411766.2_Missense_Mutation_p.T3R|DMTF1_ENST00000394702.3_Missense_Mutation_p.T3R	p.T3R	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN			5	571	+	Esophageal squamous(14;0.0058)		3			Interaction with CCND2 (By similarity).		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Missense_Mutation	SNP	ENST00000394703.5	37	c.8C>G	CCDS5601.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991400	0.74703	.	.	ENSG00000135164	ENST00000331242;ENST00000394702;ENST00000413276;ENST00000447863;ENST00000446796;ENST00000425406;ENST00000411766;ENST00000414630;ENST00000453049;ENST00000428819;ENST00000448598;ENST00000449088;ENST00000430405;ENST00000394703;ENST00000434534;ENST00000423590;ENST00000432366;ENST00000412139;ENST00000425705	T;T;T	0.51817	0.69;0.81;0.69	5.59	4.69	0.59074	.	0.149763	0.64402	N	0.000018	T	0.57198	0.2037	L	0.40543	1.245	0.80722	D	1	D	0.69078	0.997	P	0.60789	0.879	T	0.61720	-0.7005	10	0.87932	D	0	-4.3326	15.4605	0.75353	0.0:0.8608:0.1392:0.0	.	3	Q9Y222	DMTF1_HUMAN	R	3	ENSP00000332171:T3R;ENSP00000402627:T3R;ENSP00000378193:T3R	ENSP00000332171:T3R	T	+	2	0	DMTF1	86632201	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.395000	0.52558	1.336000	0.45506	0.655000	0.94253	ACA		0.393	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145		8	118	0	0	0	1	0	8	118				
CCNT1	904	broad.mit.edu	37	12	49088077	49088077	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr12:49088077G>T	ENST00000261900.3	-	9	1142	c.920C>A	c.(919-921)aCa>aAa	p.T307K		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	307					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						CACTGCACTTGTGGTAGAAGT	0.488																																						ENST00000261900.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						c.(919-921)aCa>aAa		cyclin T1							130.0	114.0	120.0					12																	49088077		2203	4300	6503	SO:0001583	missense	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49088077G>T	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"""human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"""	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.920C>A	12.37:g.49088077G>T	ENSP00000261900:p.Thr307Lys						p.T307K	NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN			9	1142	-			307					A9XU13|E7EX76|O60581	Missense_Mutation	SNP	ENST00000261900.3	37	c.920C>A	CCDS8766.1	.	.	.	.	.	.	.	.	.	.	G	8.204	0.798759	0.16397	.	.	ENSG00000129315	ENST00000261900	T	0.52983	0.64	3.94	3.05	0.35203	.	0.996520	0.08131	U	0.993107	T	0.25827	0.0629	N	0.08118	0	0.09310	N	1	P	0.37914	0.611	B	0.30646	0.118	T	0.08229	-1.0732	10	0.30854	T	0.27	-0.5104	10.2522	0.43375	0.1007:0.0:0.8993:0.0	.	307	O60563	CCNT1_HUMAN	K	307	ENSP00000261900:T307K	ENSP00000261900:T307K	T	-	2	0	CCNT1	47374344	0.208000	0.23494	1.000000	0.80357	0.627000	0.37826	1.505000	0.35736	0.868000	0.35678	0.491000	0.48974	ACA		0.488	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		7	79	1	0	0.000157383	1	0.00016871	7	79				
LHFPL5	222662	broad.mit.edu	37	6	35773541	35773541	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr6:35773541C>G	ENST00000373853.1	+	1	472	c.94C>G	c.(94-96)Ctc>Gtc	p.L32V	LHFPL5_ENST00000360215.1_Missense_Mutation_p.L32V			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	32					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transport (GO:0006811)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						GTGGGGTACCCTCACCATCTG	0.592																																						ENST00000360215.1																			0				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(94-96)Ctc>Gtc		lipoma HMGIC fusion partner-like 5							217.0	188.0	198.0					6																	35773541		2203	4300	6503	SO:0001583	missense	222662					integral to membrane		g.chr6:35773541C>G	BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753			21253	protein-coding gene	gene with protein product		609427	"""deafness, autosomal recessive 67"""	DFNB67		16459341	Standard	NM_182548		Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000373853.1:c.94C>G	6.37:g.35773541C>G	ENSP00000362960:p.Leu32Val					LHFPL5_ENST00000373853.1_Missense_Mutation_p.L32V	p.L32V	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN			1	471	+			32					B3KX66	Missense_Mutation	SNP	ENST00000373853.1	37	c.94C>G	CCDS4812.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236359	0.58886	.	.	ENSG00000197753	ENST00000373853;ENST00000360215	T;T	0.73575	-0.76;-0.76	5.33	5.33	0.75918	.	0.101744	0.64402	D	0.000002	T	0.48114	0.1482	L	0.38175	1.15	0.37469	D	0.915541	P	0.38280	0.625	B	0.34931	0.192	T	0.60357	-0.7279	10	0.56958	D	0.05	-27.7226	6.9464	0.24520	0.0:0.7876:0.0:0.2124	.	32	Q8TAF8	TMHS_HUMAN	V	32	ENSP00000362960:L32V;ENSP00000353346:L32V	ENSP00000353346:L32V	L	+	1	0	LHFPL5	35881519	1.000000	0.71417	0.979000	0.43373	0.856000	0.48823	6.075000	0.71261	2.494000	0.84150	0.542000	0.68232	CTC		0.592	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040323.1	NM_182548		31	111	0	0	0	1	0	31	111				
GPR15	2838	broad.mit.edu	37	3	98251898	98251898	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr3:98251898C>G	ENST00000284311.3	+	1	1156	c.1021C>G	c.(1021-1023)Ctc>Gtc	p.L341V		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	341					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CACTAAGGCTCTCTCCACCTT	0.488																																						ENST00000284311.3																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1021-1023)Ctc>Gtc		G protein-coupled receptor 15							77.0	81.0	79.0					3																	98251898		2203	4300	6503	SO:0001583	missense	2838					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:98251898C>G		CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"""GPCR / Class A : Orphans"""	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.1021C>G	3.37:g.98251898C>G	ENSP00000284311:p.Leu341Val						p.L341V	NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN		Lung(72;0.246)	1	1156	+		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)	341					Q3MIL4|Q6ISN6	Missense_Mutation	SNP	ENST00000284311.3	37	c.1021C>G	CCDS2931.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.615727	0.28801	.	.	ENSG00000154165	ENST00000284311	T	0.66815	-0.23	5.08	1.32	0.21799	.	0.378221	0.18408	N	0.142143	T	0.44201	0.1282	N	0.24115	0.695	0.34037	D	0.654584	P	0.43392	0.805	B	0.35813	0.211	T	0.53634	-0.8411	10	0.49607	T	0.09	-9.4491	6.4981	0.22153	0.0:0.6137:0.0:0.3863	.	341	P49685	GPR15_HUMAN	V	341	ENSP00000284311:L341V	ENSP00000284311:L341V	L	+	1	0	GPR15	99734588	0.019000	0.18553	0.999000	0.59377	0.887000	0.51463	-0.042000	0.12063	0.415000	0.25817	0.655000	0.94253	CTC		0.488	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358907.1			16	67	0	0	0	1	0	16	67				
MUC16	94025	broad.mit.edu	37	19	9063268	9063268	+	Missense_Mutation	SNP	C	C	T	rs541350099		TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr19:9063268C>T	ENST00000397910.4	-	3	24381	c.24178G>A	c.(24178-24180)Gat>Aat	p.D8060N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8062	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCCCCACATCGGTCACTGTT	0.463													C|||	0	0.0	0.0	0.0	5008	,	,		21951	0.0		0.0	False		,,,				2504	0.0					ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(24178-24180)Gat>Aat		mucin 16, cell surface associated							110.0	106.0	107.0					19																	9063268		2053	4192	6245	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9063268C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24178G>A	19.37:g.9063268C>T	ENSP00000381008:p.Asp8060Asn						p.D8060N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	24381	-			8062			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.24178G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	1.276	-0.611669	0.03690	.	.	ENSG00000181143	ENST00000397910	T	0.15256	2.44	3.15	-6.31	0.02001	.	.	.	.	.	T	0.02494	0.0076	N	0.00347	-1.61	.	.	.	P	0.42961	0.795	B	0.31245	0.126	T	0.52741	-0.8535	8	0.87932	D	0	.	2.6418	0.04973	0.2421:0.0884:0.1253:0.5441	.	8060	B5ME49	.	N	8060	ENSP00000381008:D8060N	ENSP00000381008:D8060N	D	-	1	0	MUC16	8924268	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.172000	0.03112	-4.914000	0.00027	-1.314000	0.01303	GAT		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		25	91	0	0	0	1	0	25	91				
PCNX	22990	broad.mit.edu	37	14	71444826	71444826	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr14:71444826C>A	ENST00000304743.2	+	6	2218	c.1772C>A	c.(1771-1773)cCa>cAa	p.P591Q	PCNX_ENST00000238570.5_Missense_Mutation_p.P591Q|PCNX_ENST00000439984.3_Missense_Mutation_p.P591Q	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	591						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGTACCAAGCCACACAGTGCT	0.468																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(1771-1773)cCa>cAa		pecanex homolog (Drosophila)							115.0	108.0	110.0					14																	71444826		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71444826C>A	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.1772C>A	14.37:g.71444826C>A	ENSP00000304192:p.Pro591Gln					PCNX_ENST00000238570.5_Missense_Mutation_p.P591Q|PCNX_ENST00000439984.3_Missense_Mutation_p.P591Q	p.P591Q	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	6	2218	+			591					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.1772C>A	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132487	0.56828	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.00966	5.49;5.49;5.49	5.87	5.87	0.94306	.	0.125806	0.53938	D	0.000047	T	0.03263	0.0095	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	T	0.70124	-0.4958	10	0.33940	T	0.23	.	20.207	0.98280	0.0:1.0:0.0:0.0	.	591;591;591	B2RTR6;Q96RV3;Q96RV3-2	.;PCX1_HUMAN;.	Q	591	ENSP00000304192:P591Q;ENSP00000238570:P591Q;ENSP00000396617:P591Q	ENSP00000238570:P591Q	P	+	2	0	PCNX	70514579	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	5.595000	0.67563	2.779000	0.95612	0.655000	0.94253	CCA		0.468	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		14	114	1	0	7.93312e-07	1	8.80421e-07	14	114				
FBXO30	84085	broad.mit.edu	37	6	146126695	146126695	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr6:146126695G>C	ENST00000237281.4	-	2	1013	c.847C>G	c.(847-849)Ctt>Gtt	p.L283V		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	283							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		CCATTACAAAGAGCAGAAGTG	0.338																																						ENST00000237281.4																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(847-849)Ctt>Gtt		F-box protein 30							131.0	133.0	132.0					6																	146126695		2203	4300	6503	SO:0001583	missense	84085						ubiquitin-protein ligase activity|zinc ion binding	g.chr6:146126695G>C	AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"""F-boxes /  ""other"""""	15600	protein-coding gene	gene with protein product		609101	"""F-box only protein, helicase, 18"""				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.847C>G	6.37:g.146126695G>C	ENSP00000237281:p.Leu283Val						p.L283V	NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)	2	1013	-		Ovarian(120;0.0776)	283					Q9BXZ7	Missense_Mutation	SNP	ENST00000237281.4	37	c.847C>G	CCDS5208.1	.	.	.	.	.	.	.	.	.	.	G	9.479	1.097579	0.20552	.	.	ENSG00000118496	ENST00000237281	T	0.23147	1.92	5.62	4.52	0.55395	.	0.224065	0.40385	N	0.001115	T	0.08313	0.0207	L	0.50333	1.59	0.43330	D	0.995366	P	0.39665	0.682	B	0.30401	0.115	T	0.06391	-1.0829	10	0.18710	T	0.47	-18.8963	7.4203	0.27067	0.1859:0.0:0.8141:0.0	.	283	Q8TB52	FBX30_HUMAN	V	283	ENSP00000237281:L283V	ENSP00000237281:L283V	L	-	1	0	FBXO30	146168388	0.992000	0.36948	1.000000	0.80357	0.945000	0.59286	1.088000	0.30877	2.795000	0.96236	0.655000	0.94253	CTT		0.338	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042570.2			4	178	0	0	0	1	0	4	178				
SGOL2	151246	broad.mit.edu	37	2	201400850	201400850	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:201400850G>A	ENST00000357799.4	+	4	470	c.372G>A	c.(370-372)atG>atA	p.M124I	SGOL2_ENST00000409203.3_Missense_Mutation_p.M124I|SGOL2_ENST00000469840.1_3'UTR	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	124					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						CAATTGAAATGAGCAGTCTTT	0.308																																						ENST00000357799.4																			0				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(370-372)atG>atA		shugoshin-like 2 (S. pombe)							131.0	131.0	131.0					2																	201400850		1811	4060	5871	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201400850G>A	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.372G>A	2.37:g.201400850G>A	ENSP00000350447:p.Met124Ile					SGOL2_ENST00000469840.1_3'UTR|SGOL2_ENST00000409203.3_Missense_Mutation_p.M124I	p.M124I	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN			4	470	+			124					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.372G>A	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.144828	0.37825	.	.	ENSG00000163535	ENST00000357799;ENST00000409203	T;T	0.42131	0.98;0.98	5.34	4.45	0.53987	.	0.159818	0.44688	N	0.000433	T	0.36608	0.0973	L	0.50333	1.59	0.25826	N	0.984226	P;P;P;B	0.51537	0.946;0.946;0.946;0.319	B;B;B;B	0.43155	0.41;0.41;0.41;0.069	T	0.23048	-1.0199	10	0.30078	T	0.28	-7.2002	10.062	0.42282	0.1607:0.0:0.8393:0.0	.	124;124;124;124	B7Z7S9;Q562F6-2;Q562F6;Q562F6-3	.;.;SGOL2_HUMAN;.	I	124	ENSP00000350447:M124I;ENSP00000386249:M124I	ENSP00000350447:M124I	M	+	3	0	SGOL2	201109095	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.457000	0.45005	1.457000	0.47850	0.655000	0.94253	ATG		0.308	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		25	150	0	0	0	1	0	25	150				
NYAP1	222950	broad.mit.edu	37	7	100087130	100087130	+	Missense_Mutation	SNP	G	G	C	rs557553256		TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr7:100087130G>C	ENST00000300179.2	+	4	1945	c.1786G>C	c.(1786-1788)Gat>Cat	p.D596H	NYAP1_ENST00000423930.1_Missense_Mutation_p.D596H|NYAP1_ENST00000454988.1_Missense_Mutation_p.D539H	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	596					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GCAAGGGACCGATGGGGGTGC	0.637																																						ENST00000423930.1																			0											c.(1786-1788)Gat>Cat		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1							41.0	44.0	43.0					7																	100087130		2203	4300	6503	SO:0001583	missense	222950							g.chr7:100087130G>C	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.1786G>C	7.37:g.100087130G>C	ENSP00000300179:p.Asp596His					NYAP1_ENST00000454988.1_Missense_Mutation_p.D539H|NYAP1_ENST00000300179.2_Missense_Mutation_p.D596H	p.D596H			Q6ZVC0	CG051_HUMAN			4	1945	+			596					Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	c.1786G>C	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604288	0.46423	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.31247	1.5;1.5;1.5	4.68	3.71	0.42584	.	0.388147	0.22031	N	0.065598	T	0.25344	0.0616	N	0.08118	0	0.43073	D	0.994715	D;D	0.63880	0.993;0.993	P;P	0.60286	0.872;0.872	T	0.02214	-1.1194	10	0.33141	T	0.24	-3.9808	6.9315	0.24444	0.1269:0.0:0.8731:0.0	.	539;596	C9JS30;Q6ZVC0	.;CG051_HUMAN	H	596;596;539	ENSP00000300179:D596H;ENSP00000411861:D596H;ENSP00000394424:D539H	ENSP00000300179:D596H	D	+	1	0	C7orf51	99925066	0.463000	0.25799	0.990000	0.47175	0.978000	0.69477	2.138000	0.42140	2.420000	0.82092	0.561000	0.74099	GAT		0.637	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		5	137	0	0	0	1	0	5	137				
MTMR8	55613	broad.mit.edu	37	X	63576113	63576113	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chrX:63576113C>T	ENST00000374852.3	-	3	320	c.253G>A	c.(253-255)Gat>Aat	p.D85N	MTMR8_ENST00000453546.1_Missense_Mutation_p.D85N	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	85						nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AGGTCAGAATCTAAAACAAAG	0.428																																						ENST00000374852.3																			1	Whole gene deletion(1)	p.0?(1)	ovary(1)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						c.(253-255)Gat>Aat		myotubularin related protein 8							53.0	45.0	48.0					X																	63576113		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63576113C>T	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.253G>A	X.37:g.63576113C>T	ENSP00000363985:p.Asp85Asn					MTMR8_ENST00000453546.1_Missense_Mutation_p.D85N	p.D85N	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN			3	320	-			85					Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	c.253G>A	CCDS14379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.75|11.75	1.733099|1.733099	0.30684|0.30684	.|.	.|.	ENSG00000102043|ENSG00000102043	ENST00000453546;ENST00000374852;ENST00000247400|ENST00000442913	D;D|.	0.81996|.	-1.56;-1.56|.	2.69|2.69	2.69|2.69	0.31865|0.31865	.|.	0.602490|.	0.14137|.	U|.	0.338982|.	T|T	0.20901|0.20901	0.0503|0.0503	N|N	0.12182|0.12182	0.205|0.205	0.09310|0.09310	N|N	1|1	B;B|.	0.19583|.	0.037;0.021|.	B;B|.	0.25759|.	0.006;0.063|.	T|T	0.19679|0.19679	-1.0298|-1.0298	10|5	0.27785|.	T|.	0.31|.	.|.	8.4588|8.4588	0.32915|0.32915	0.0:0.763:0.2369:0.0|0.0:0.763:0.2369:0.0	.|.	85;85|.	B4DQL0;Q96EF0|.	.;MTMR8_HUMAN|.	N|K	85;85;84|1	ENSP00000394003:D85N;ENSP00000363985:D85N|.	ENSP00000247400:D84N|.	D|R	-|-	1|2	0|0	MTMR8|MTMR8	63492838|63492838	0.409000|0.409000	0.25368|0.25368	0.297000|0.297000	0.24988|0.24988	0.879000|0.879000	0.50718|0.50718	1.253000|1.253000	0.32886|0.32886	1.361000|1.361000	0.45981|0.45981	0.513000|0.513000	0.50165|0.50165	GAT|AGA		0.428	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		4	39	0	0	0	1	0	4	39				
SCGB1D4	404552	broad.mit.edu	37	11	62065028	62065028	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:62065028G>T	ENST00000358585.1	-	2	211	c.158C>A	c.(157-159)cCa>cAa	p.P53Q		NM_206998.1	NP_996881.1	Q6XE38	SG1D4_HUMAN	secretoglobin, family 1D, member 4	53						extracellular region (GO:0005576)				lung(1)|prostate(1)	2						AAGAGCTTCTGGAGGTGGATT	0.443																																						ENST00000358585.1																			0				lung(1)|prostate(1)	2						c.(157-159)cCa>cAa		secretoglobin, family 1D, member 4							183.0	190.0	188.0					11																	62065028		2202	4299	6501	SO:0001583	missense	404552					extracellular region	binding	g.chr11:62065028G>T	AY236538	CCDS31583.1	11q12.3	2011-12-14			ENSG00000197745	ENSG00000197745		"""Secretoglobins"""	31748	protein-coding gene	gene with protein product		615062				15034037, 15340161, 22155607	Standard	NM_206998		Approved	IIS	uc001ntd.1	Q6XE38	OTTHUMG00000167510	ENST00000358585.1:c.158C>A	11.37:g.62065028G>T	ENSP00000351395:p.Pro53Gln						p.P53Q	NM_206998.1	NP_996881.1	Q6XE38	SG1D4_HUMAN			2	211	-			53					A1L4Q8	Missense_Mutation	SNP	ENST00000358585.1	37	c.158C>A	CCDS31583.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.235985	0.22626	.	.	ENSG00000197745	ENST00000358585	T	0.15603	2.41	1.65	0.643	0.17770	.	3.271760	0.01252	N	0.008901	T	0.31136	0.0787	.	.	.	0.09310	N	1	D	0.63880	0.993	D	0.65987	0.94	T	0.12400	-1.0549	9	0.30854	T	0.27	.	5.033	0.14419	0.0:0.0:0.6488:0.3512	.	53	Q6XE38	SG1D4_HUMAN	Q	53	ENSP00000351395:P53Q	ENSP00000351395:P53Q	P	-	2	0	SCGB1D4	61821604	0.000000	0.05858	0.221000	0.23827	0.011000	0.07611	-3.083000	0.00612	0.224000	0.20940	-0.532000	0.04303	CCA		0.443	SCGB1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394862.1	NM_206998		24	234	1	0	1.10923e-09	1	1.26578e-09	24	234				
DAZAP1	26528	broad.mit.edu	37	19	1422393	1422393	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr19:1422393G>A	ENST00000233078.4	+	6	622	c.461G>A	c.(460-462)cGa>cAa	p.R154Q	DAZAP1_ENST00000586579.1_3'UTR|DAZAP1_ENST00000336761.6_Missense_Mutation_p.R154Q	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	154	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|maternal placenta development (GO:0001893)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGAGGCCCCGAGGTAAGGGC	0.612																																						ENST00000336761.6																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9						c.(460-462)cGa>cAa		DAZ associated protein 1							156.0	112.0	127.0					19																	1422393		2203	4300	6503	SO:0001583	missense	26528				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:1422393G>A		CCDS12065.1, CCDS12066.1	19p13.3	2013-07-16			ENSG00000071626	ENSG00000071626		"""RNA binding motif (RRM) containing"""	2683	protein-coding gene	gene with protein product	"""deleted in azoospermia associated protein 1"""	607430				10857750, 23658607	Standard	XM_005259530		Approved	MGC19907	uc002lsn.3	Q96EP5		ENST00000233078.4:c.461G>A	19.37:g.1422393G>A	ENSP00000233078:p.Arg154Gln					DAZAP1_ENST00000586579.1_3'UTR|DAZAP1_ENST00000233078.4_Missense_Mutation_p.R154Q	p.R154Q	NM_170711.1	NP_733829.1	Q96EP5	DAZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	666	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	154			RRM 2.		Q96MJ3|Q9NRR9	Missense_Mutation	SNP	ENST00000233078.4	37	c.461G>A	CCDS12065.1	.	.	.	.	.	.	.	.	.	.	G	34	5.330462	0.95733	.	.	ENSG00000071626	ENST00000233078;ENST00000336761	T;T	0.77877	-1.13;-1.13	4.3	4.3	0.51218	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.90407	0.6997	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.982	D	0.93099	0.6507	10	0.87932	D	0	.	16.1092	0.81247	0.0:0.0:1.0:0.0	.	154;154	Q96EP5;Q96EP5-2	DAZP1_HUMAN;.	Q	154	ENSP00000233078:R154Q;ENSP00000337132:R154Q	ENSP00000233078:R154Q	R	+	2	0	DAZAP1	1373393	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.717000	0.98755	2.098000	0.63641	0.462000	0.41574	CGA		0.612	DAZAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449522.3	NM_170711		11	107	0	0	0	1	0	11	107				
SBF2	81846	broad.mit.edu	37	11	9801975	9801975	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:9801975G>C	ENST00000256190.8	-	40	5677	c.5540C>G	c.(5539-5541)tCt>tGt	p.S1847C	SBF2-AS1_ENST00000534671.1_RNA|SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000527406.1_RNA|SBF2-AS1_ENST00000499953.2_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1847	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TCAGGCATCAGAGATACAACT	0.478																																						ENST00000256190.8																			0				breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(5539-5541)tCt>tGt		SET binding factor 2							131.0	110.0	117.0					11																	9801975		2201	4294	6495	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9801975G>C	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.5540C>G	11.37:g.9801975G>C	ENSP00000256190:p.Ser1847Cys					SBF2-AS1_ENST00000499953.2_RNA|SBF2-AS1_ENST00000534671.1_RNA|SBF2-AS1_ENST00000527406.1_RNA|SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000525636.1_RNA	p.S1847C	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	40	5677	-			1847			PH.		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.5540C>G	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647084	0.87958	.	.	ENSG00000133812	ENST00000256190	T	0.78707	-1.2	5.93	5.01	0.66863	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.049759	0.85682	D	0.000000	D	0.88175	0.6366	M	0.83603	2.65	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.89157	0.3527	10	0.72032	D	0.01	.	14.5412	0.67997	0.0697:0.0:0.9303:0.0	.	1847	Q86WG5	MTMRD_HUMAN	C	1847	ENSP00000256190:S1847C	ENSP00000256190:S1847C	S	-	2	0	SBF2	9758551	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.907000	0.87430	2.814000	0.96858	0.655000	0.94253	TCT		0.478	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		6	42	0	0	0	1	0	6	42				
CDK6	1021	broad.mit.edu	37	7	92355095	92355095	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr7:92355095G>A	ENST00000265734.4	-	4	793	c.382C>T	c.(382-384)Cag>Tag	p.Q128*	CDK6_ENST00000424848.2_Nonsense_Mutation_p.Q128*	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	128	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				astrocyte development (GO:0014002)|cell cycle arrest (GO:0007050)|cell dedifferentiation (GO:0043697)|cell division (GO:0051301)|dentate gyrus development (GO:0021542)|G1/S transition of mitotic cell cycle (GO:0000082)|generation of neurons (GO:0048699)|gliogenesis (GO:0042063)|hematopoietic stem cell differentiation (GO:0060218)|lateral ventricle development (GO:0021670)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular senescence (GO:2000773)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of osteoblast differentiation (GO:0045668)|Notch signaling pathway (GO:0007219)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of erythrocyte differentiation (GO:0045646)|regulation of gene expression (GO:0010468)|response to virus (GO:0009615)|T cell differentiation in thymus (GO:0033077)|type B pancreatic cell development (GO:0003323)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CGGAGAAGCTGAAACATCATA	0.403			T	MLLT10	ALL																																	ENST00000265734.4				Dom	yes		7	7q21-q22	1021	T	cyclin-dependent kinase 6			L	MLLT10		ALL		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11						c.(382-384)Cag>Tag		cyclin-dependent kinase 6							114.0	113.0	113.0					7																	92355095		2203	4300	6503	SO:0001587	stop_gained	1021				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	g.chr7:92355095G>A		CCDS5628.1	7q21-q22	2011-11-08			ENSG00000105810	ENSG00000105810		"""Cyclin-dependent kinases"""	1777	protein-coding gene	gene with protein product		603368				1639063	Standard	NM_001259		Approved	PLSTIRE	uc010lez.3	Q00534	OTTHUMG00000131697	ENST00000265734.4:c.382C>T	7.37:g.92355095G>A	ENSP00000265734:p.Gln128*					CDK6_ENST00000424848.2_Nonsense_Mutation_p.Q128*	p.Q128*	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		4	793	-	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		128			Protein kinase.		A4D1G0	Nonsense_Mutation	SNP	ENST00000265734.4	37	c.382C>T	CCDS5628.1	.	.	.	.	.	.	.	.	.	.	G	43	10.095925	0.99336	.	.	ENSG00000105810	ENST00000265734;ENST00000424848	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	0.0513	20.2527	0.98410	0.0:0.0:1.0:0.0	.	.	.	.	X	128	.	ENSP00000265734:Q128X	Q	-	1	0	CDK6	92193031	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.769000	0.98969	2.788000	0.95919	0.557000	0.71058	CAG		0.403	CDK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254605.2			7	188	0	0	0	1	0	7	188				
ZNF71	58491	broad.mit.edu	37	19	57133846	57133846	+	Silent	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr19:57133846C>T	ENST00000328070.6	+	3	1425	c.1191C>T	c.(1189-1191)ctC>ctT	p.L397L		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	397					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GCTCGTCCCTCATCGTGCACC	0.637																																						ENST00000328070.6																			0				endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1189-1191)ctC>ctT		zinc finger protein 71							90.0	72.0	78.0					19																	57133846		2203	4300	6503	SO:0001819	synonymous_variant	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57133846C>T	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.1191C>T	19.37:g.57133846C>T							p.L397L	NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	1425	+			397					Q15919|Q9UC09|Q9UQD3	Silent	SNP	ENST00000328070.6	37	c.1191C>T	CCDS12947.1																																																																																				0.637	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		6	82	0	0	0	1	0	6	82				
WRN	7486	broad.mit.edu	37	8	31012227	31012227	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr8:31012227A>G	ENST00000298139.5	+	32	4024	c.3775A>G	c.(3775-3777)Atg>Gtg	p.M1259V		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1259					aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TTCACAGTCTATGGCCATCAC	0.338			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(3775-3777)Atg>Gtg	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like							90.0	83.0	86.0					8																	31012227		2203	4299	6502	SO:0001583	missense	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:31012227A>G		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.3775A>G	8.37:g.31012227A>G	ENSP00000298139:p.Met1259Val						p.M1259V	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	32	4024	+		Breast(100;0.195)	1259					A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.3775A>G	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	A	5.981	0.364880	0.11296	.	.	ENSG00000165392	ENST00000298139	T	0.53423	0.62	5.48	0.593	0.17478	.	1.278260	0.05216	N	0.507676	T	0.21103	0.0508	N	0.02802	-0.49	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16897	-1.0387	10	0.12766	T	0.61	1.7746	5.1981	0.15249	0.4206:0.1412:0.4381:0.0	.	669;1259	Q59F09;Q14191	.;WRN_HUMAN	V	1259	ENSP00000298139:M1259V	ENSP00000298139:M1259V	M	+	1	0	WRN	31131769	0.000000	0.05858	0.020000	0.16555	0.539000	0.34962	-0.331000	0.07914	-0.181000	0.10619	-0.472000	0.04984	ATG		0.338	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			5	74	0	0	0	1	0	5	74				
RELN	5649	broad.mit.edu	37	7	103205798	103205798	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr7:103205798C>T	ENST00000428762.1	-	34	5296	c.5137G>A	c.(5137-5139)Gaa>Aaa	p.E1713K	RELN_ENST00000343529.5_Missense_Mutation_p.E1713K|RELN_ENST00000424685.2_Missense_Mutation_p.E1713K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1713					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATTGAACTTTCCGTGTAATGC	0.468																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(5137-5139)Gaa>Aaa		reelin							136.0	117.0	124.0					7																	103205798		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103205798C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.5137G>A	7.37:g.103205798C>T	ENSP00000392423:p.Glu1713Lys					RELN_ENST00000424685.2_Missense_Mutation_p.E1713K|RELN_ENST00000343529.5_Missense_Mutation_p.E1713K	p.E1713K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	34	5296	-			1713					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.5137G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.331946	0.60853	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.44881	1.94;0.91;1.94	6.02	5.13	0.70059	Neuraminidase (1);	0.165679	0.53938	D	0.000044	T	0.60235	0.2253	L	0.55481	1.735	0.42513	D	0.992972	P;D	0.59767	0.575;0.986	B;D	0.70227	0.219;0.968	T	0.61302	-0.7090	10	0.45353	T	0.12	.	17.2384	0.87006	0.0:0.8743:0.1257:0.0	.	1713;1713	P78509-2;P78509	.;RELN_HUMAN	K	1713	ENSP00000392423:E1713K;ENSP00000345694:E1713K;ENSP00000388446:E1713K	ENSP00000345694:E1713K	E	-	1	0	RELN	102993034	1.000000	0.71417	0.999000	0.59377	0.858000	0.48976	3.854000	0.55949	1.520000	0.48965	0.655000	0.94253	GAA		0.468	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		25	80	0	0	0	1	0	25	80				
WBP1	23559	broad.mit.edu	37	2	74687518	74687518	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:74687518G>A	ENST00000233615.2	+	4	794	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	WBP1_ENST00000409737.1_Missense_Mutation_p.E171K|WBP1_ENST00000494741.1_3'UTR|MOGS_ENST00000462443.1_5'Flank|WBP1_ENST00000393972.3_Missense_Mutation_p.E208K	NM_012477.3	NP_036609.1	Q96G27	WBP1_HUMAN	WW domain binding protein 1	174							WW domain binding (GO:0050699)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						AACAAATGTGGAAGGTGTTTC	0.627																																						ENST00000393972.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						c.(622-624)Gaa>Aaa		WW domain binding protein 1							66.0	77.0	73.0					2																	74687518		2203	4300	6503	SO:0001583	missense	23559						WW domain binding	g.chr2:74687518G>A	U79457	CCDS1943.1	2p12	2012-04-20			ENSG00000239779	ENSG00000239779			12737	protein-coding gene	gene with protein product		606961				7644498	Standard	NM_012477		Approved	WBP-1	uc002slj.2	Q96G27	OTTHUMG00000129958	ENST00000233615.2:c.520G>A	2.37:g.74687518G>A	ENSP00000233615:p.Glu174Lys					WBP1_ENST00000233615.2_Missense_Mutation_p.E174K|WBP1_ENST00000409737.1_Missense_Mutation_p.E171K|WBP1_ENST00000494741.1_3'UTR	p.E208K			Q96G27	WBP1_HUMAN			5	825	+			174					B2RE02|O95637	Missense_Mutation	SNP	ENST00000233615.2	37	c.622G>A	CCDS1943.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.612285	0.66672	.	.	ENSG00000239779	ENST00000233615;ENST00000393972;ENST00000409737;ENST00000428943	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	T	0.70263	0.3204	L	0.60455	1.87	0.36756	D	0.883026	D;D	0.69078	0.997;0.997	D;D	0.73380	0.98;0.98	T	0.73043	-0.4107	8	0.40728	T	0.16	-1.5675	13.5265	0.61597	0.0:0.0:1.0:0.0	.	171;174	B8ZZ95;Q96G27	.;WBP1_HUMAN	K	174;208;171;233	.	ENSP00000233615:E174K	E	+	1	0	WBP1	74541026	1.000000	0.71417	0.998000	0.56505	0.944000	0.59088	4.161000	0.58170	2.669000	0.90835	0.655000	0.94253	GAA		0.627	WBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252221.2	NM_012477		14	155	0	0	0	1	0	14	155				
VWA1	64856	broad.mit.edu	37	1	1372561	1372561	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:1372561G>A	ENST00000476993.1	+	2	406	c.328G>A	c.(328-330)Gac>Aac	p.D110N	RP4-758J18.10_ENST00000417917.1_lincRNA|VWA1_ENST00000338660.5_Intron|VWA1_ENST00000404702.3_Intron	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	110	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				behavioral response to pain (GO:0048266)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interstitial matrix (GO:0005614)				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCGCATGGGTGACACCCACAC	0.652																																						ENST00000476993.1																			0				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(328-330)Gac>Aac		von Willebrand factor A domain containing 1							37.0	31.0	33.0					1																	1372561		2193	4290	6483	SO:0001583	missense	64856					basement membrane		g.chr1:1372561G>A	BC059409	CCDS27.1, CCDS28.1, CCDS28.2	1p36.33	2013-02-11			ENSG00000179403	ENSG00000179403		"""Fibronectin type III domain containing"""	30910	protein-coding gene	gene with protein product		611901				14527666, 12062410	Standard	NM_022834		Approved	FLJ22215, VWA-1, WARP	uc001afs.3	Q6PCB0	OTTHUMG00000002975	ENST00000476993.1:c.328G>A	1.37:g.1372561G>A	ENSP00000417185:p.Asp110Asn					VWA1_ENST00000338660.5_Intron|VWA1_ENST00000404702.3_Intron	p.D110N	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	2	406	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	110			VWFA.		A8K692|B3KUA1|E9PB53|Q7L5D7|Q9H6J5	Missense_Mutation	SNP	ENST00000476993.1	37	c.328G>A	CCDS27.1	.	.	.	.	.	.	.	.	.	.	.	12.39	1.923514	0.33908	.	.	ENSG00000179403	ENST00000476993	D	0.82433	-1.61	4.15	4.15	0.48705	von Willebrand factor, type A (3);	0.000000	0.85682	U	0.000000	T	0.80602	0.4654	N	0.12961	0.28	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.74556	-0.3626	10	0.02654	T	1	-30.7333	15.9955	0.80237	0.0:0.0:1.0:0.0	.	110	Q6PCB0	VWA1_HUMAN	N	110	ENSP00000417185:D110N	ENSP00000417185:D110N	D	+	1	0	VWA1	1362424	1.000000	0.71417	0.998000	0.56505	0.321000	0.28281	6.134000	0.71689	2.308000	0.77769	0.586000	0.80456	GAC		0.652	VWA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008291.1	NM_022834		3	17	0	0	0	1	0	3	17				
RNF2	6045	broad.mit.edu	37	1	185062311	185062311	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:185062311C>A	ENST00000367510.3	+	4	655	c.367C>A	c.(367-369)Cat>Aat	p.H123N	RNF2_ENST00000367509.4_Intron	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	123	Interaction with HIP2.				anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		GTATGAAGCTCATCAAGAGAG	0.423																																						ENST00000367510.3																			0				breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14						c.(367-369)Cat>Aat		ring finger protein 2							98.0	90.0	92.0					1																	185062311		2203	4300	6503	SO:0001583	missense	6045				histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding	g.chr1:185062311C>A	BC012583, Y10571	CCDS1365.1	1q25.3	2013-01-09			ENSG00000121481	ENSG00000121481		"""RING-type (C3HC4) zinc fingers"""	10061	protein-coding gene	gene with protein product		608985				11513855	Standard	XM_005245413		Approved	BAP-1, BAP1, DING, HIPI3, RING1B, RING2	uc001grc.1	Q99496	OTTHUMG00000035391	ENST00000367510.3:c.367C>A	1.37:g.185062311C>A	ENSP00000356480:p.His123Asn					RNF2_ENST00000367509.4_Intron	p.H123N	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)	4	655	+		Breast(1374;0.000496)	123			Interaction with HIP2.		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000367510.3	37	c.367C>A	CCDS1365.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430660	0.83776	.	.	ENSG00000121481	ENST00000367510;ENST00000453650	T;T	0.21191	2.02;2.02	5.34	5.34	0.76211	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.44008	0.1273	M	0.67397	2.05	0.80722	D	1	D	0.67145	0.996	D	0.63703	0.917	T	0.09487	-1.0672	10	0.30078	T	0.28	-23.2697	19.408	0.94656	0.0:1.0:0.0:0.0	.	123	Q99496	RING2_HUMAN	N	123	ENSP00000356480:H123N;ENSP00000400722:H123N	ENSP00000356480:H123N	H	+	1	0	RNF2	183328934	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.265000	0.78442	2.643000	0.89663	0.650000	0.86243	CAT		0.423	RNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085793.1	NM_007212		5	70	1	0	0.014758	1	0.0150777	5	70				
KIAA1551	55196	broad.mit.edu	37	12	32136680	32136680	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr12:32136680C>T	ENST00000312561.4	+	4	3205	c.2791C>T	c.(2791-2793)Cag>Tag	p.Q931*	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	931																	TCTACCCAATCAGCAAGGGAT	0.388																																						ENST00000312561.4																			0											c.(2791-2793)Cag>Tag		KIAA1551							43.0	42.0	42.0					12																	32136680		2203	4300	6503	SO:0001587	stop_gained	55196							g.chr12:32136680C>T	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.2791C>T	12.37:g.32136680C>T	ENSP00000310338:p.Gln931*					KIAA1551_ENST00000535596.1_Intron	p.Q931*	NM_018169.3	NP_060639.3					4	3205	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Nonsense_Mutation	SNP	ENST00000312561.4	37	c.2791C>T	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	C	41	8.796369	0.98958	.	.	ENSG00000174718	ENST00000312561	.	.	.	5.53	2.45	0.29901	.	0.803958	0.11053	N	0.604816	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.0674	0.30669	0.3314:0.5183:0.1503:0.0	.	.	.	.	X	931	.	.	Q	+	1	0	C12orf35	32027947	0.000000	0.05858	0.002000	0.10522	0.112000	0.19704	-0.040000	0.12104	0.620000	0.30215	0.655000	0.94253	CAG		0.388	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		16	79	0	0	0	1	0	16	79				
FAM50A	9130	broad.mit.edu	37	X	153674848	153674848	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chrX:153674848G>C	ENST00000393600.3	+	4	492	c.382G>C	c.(382-384)Gaa>Caa	p.E128Q		NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN	family with sequence similarity 50, member A	128					spermatogenesis (GO:0007283)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ggaggaggaagaagagggagg	0.607																																						ENST00000393600.3																			0				breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15						c.(382-384)Gaa>Caa		family with sequence similarity 50, member A							87.0	58.0	68.0					X																	153674848		2203	4300	6503	SO:0001583	missense	9130				spermatogenesis	nucleus		g.chrX:153674848G>C	BC000028	CCDS14751.1	Xq28	2008-02-05			ENSG00000071859	ENSG00000071859			18786	protein-coding gene	gene with protein product	"""DNA segment on chromosome X (unique) 9928 expressed sequence"""	300453				9339379, 9039504	Standard	NM_004699		Approved	DXS9928E, XAP5, HXC-26, 9F	uc004fll.4	Q14320	OTTHUMG00000033292	ENST00000393600.3:c.382G>C	X.37:g.153674848G>C	ENSP00000377225:p.Glu128Gln						p.E128Q	NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN			4	492	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		128					A8KAQ4|B2R997|Q5HY37|Q6PJH5	Missense_Mutation	SNP	ENST00000393600.3	37	c.382G>C	CCDS14751.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547290	0.86022	.	.	ENSG00000071859	ENST00000393600;ENST00000158526	.	.	.	5.15	5.15	0.70609	.	0.297817	0.36303	N	0.002670	T	0.68952	0.3057	M	0.81802	2.56	0.54753	D	0.999985	P	0.44877	0.845	P	0.45406	0.479	T	0.72903	-0.4151	9	0.45353	T	0.12	-15.1802	14.5474	0.68041	0.0:0.0:1.0:0.0	.	128	Q14320	FA50A_HUMAN	Q	128;88	.	ENSP00000158526:E88Q	E	+	1	0	FAM50A	153328042	1.000000	0.71417	0.582000	0.28627	0.932000	0.56968	7.379000	0.79691	2.129000	0.65627	0.529000	0.55759	GAA		0.607	FAM50A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081643.2	NM_004699		3	30	0	0	0	1	0	3	30				
PLCD3	113026	broad.mit.edu	37	17	43195405	43195405	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr17:43195405G>C	ENST00000322765.5	-	7	1329	c.1216C>G	c.(1216-1218)Ctc>Gtc	p.L406V	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	406	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						TCCCGGAAGAGAATCTTGGAG	0.662																																						ENST00000322765.5																			0				breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						c.(1216-1218)Ctc>Gtc		phospholipase C, delta 3	Phosphatidylserine(DB00144)						40.0	49.0	46.0					17																	43195405		2108	4229	6337	SO:0001583	missense	113026				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr17:43195405G>C	AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.1216C>G	17.37:g.43195405G>C	ENSP00000313731:p.Leu406Val					PLCD3_ENST00000540511.1_5'UTR	p.L406V	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN			7	1329	-			406			PI-PLC X-box.		Q8TEC1|Q8TF37|Q96FL6	Missense_Mutation	SNP	ENST00000322765.5	37	c.1216C>G		.	.	.	.	.	.	.	.	.	.	G	15.98	2.993116	0.54041	.	.	ENSG00000161714	ENST00000322765	T	0.63913	-0.07	4.06	4.06	0.47325	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.070450	0.64402	D	0.000015	T	0.69691	0.3139	.	.	.	0.40862	D	0.98384	D	0.89917	1.0	D	0.87578	0.998	T	0.64394	-0.6418	9	0.09084	T	0.74	.	15.5405	0.76039	0.0:0.0:1.0:0.0	.	406	Q8N3E9	PLCD3_HUMAN	V	406	ENSP00000313731:L406V	ENSP00000313731:L406V	L	-	1	0	PLCD3	40550931	1.000000	0.71417	1.000000	0.80357	0.388000	0.30384	7.799000	0.85936	2.263000	0.75096	0.313000	0.20887	CTC		0.662	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_133373		5	17	0	0	0	1	0	5	17				
PGA5	5222	broad.mit.edu	37	11	61015925	61015925	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:61015925G>A	ENST00000312403.5	+	6	876	c.691G>A	c.(691-693)Ggc>Agc	p.G231S	PGA4_ENST00000422676.2_Missense_Mutation_p.G231S|PGA5_ENST00000541528.1_5'Flank|CTD-2331C18.5_ENST00000537594.1_RNA|PGA5_ENST00000451616.2_Missense_Mutation_p.G77S	NM_014224.2	NP_055039.1	P0DJD9	PEPA5_HUMAN	pepsinogen 5, group I (pepsinogen A)	231					digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			large_intestine(1)|skin(1)	2						GATCTTTGGTGGCATTGACTC	0.498																																						ENST00000312403.5																			0				large_intestine(1)|skin(1)	2						c.(691-693)Ggc>Agc		pepsinogen 5, group I (pepsinogen A)							357.0	342.0	347.0					11																	61015925		2202	4299	6501	SO:0001583	missense	5222				digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr11:61015925G>A	BC029055	CCDS8001.1	11q13	2012-10-02			ENSG00000256713	ENSG00000256713	3.4.23.1		8887	protein-coding gene	gene with protein product		169730					Standard	NM_014224		Approved		uc001nqz.3	P0DJD9	OTTHUMG00000168075	ENST00000312403.5:c.691G>A	11.37:g.61015925G>A	ENSP00000309542:p.Gly231Ser					PGA5_ENST00000451616.2_Missense_Mutation_p.G77S|CTD-2331C18.5_ENST00000537594.1_RNA|PGA4_ENST00000422676.2_Missense_Mutation_p.G231S	p.G231S	NM_014224.2	NP_055039.1	P00790	PEPA_HUMAN			6	876	+			231					A8K749|B7ZW62|B7ZW75|P00790|Q7M4R0|Q8N1E3	Missense_Mutation	SNP	ENST00000312403.5	37	c.691G>A	CCDS8001.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.710615	0.89112	.	.	ENSG00000229183;ENSG00000256713;ENSG00000256713;ENSG00000256713;ENSG00000256713	ENST00000422676;ENST00000312403;ENST00000537359;ENST00000544083;ENST00000451616	T;T;T	0.65549	-0.16;-0.16;-0.16	2.49	2.49	0.30216	.	0.071507	0.53938	D	0.000041	T	0.81168	0.4766	M	0.91300	3.195	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	D	0.85871	0.1416	10	0.87932	D	0	.	12.9273	0.58266	0.0:0.0:1.0:0.0	.	231	B7ZW62	.	S	231;231;188;90;77	ENSP00000395402:G231S;ENSP00000309542:G231S;ENSP00000408739:G77S	ENSP00000395402:G231S	G	+	1	0	PGA4;PGA5	60772501	1.000000	0.71417	0.233000	0.24025	0.712000	0.41017	6.455000	0.73497	1.730000	0.51580	0.420000	0.28162	GGC		0.498	PGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397972.1	NM_014224		57	314	0	0	0	1	0	57	314				
PLXNA2	5362	broad.mit.edu	37	1	208204977	208204977	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:208204977C>A	ENST00000367033.3	-	29	5940	c.5183G>T	c.(5182-5184)aGc>aTc	p.S1728I	PLXNA2_ENST00000483048.1_5'Flank	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1728					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GTCATGGATGCTGTGCCTGTC	0.567																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(5182-5184)aGc>aTc		plexin A2							111.0	94.0	100.0					1																	208204977		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208204977C>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.5183G>T	1.37:g.208204977C>A	ENSP00000356000:p.Ser1728Ile						p.S1728I	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	29	5940	-			1728					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.5183G>T	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115988	0.56505	.	.	ENSG00000076356	ENST00000367033	T	0.16897	2.31	4.61	4.61	0.57282	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.101203	0.64402	D	0.000002	T	0.21103	0.0508	L	0.27053	0.805	0.34840	D	0.740542	P	0.43477	0.808	P	0.48114	0.567	T	0.23868	-1.0176	10	0.87932	D	0	.	17.6573	0.88181	0.0:1.0:0.0:0.0	.	1728	O75051	PLXA2_HUMAN	I	1728	ENSP00000356000:S1728I	ENSP00000356000:S1728I	S	-	2	0	PLXNA2	206271600	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.365000	0.34182	2.402000	0.81655	0.655000	0.94253	AGC		0.567	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		22	110	1	0	6.21321e-17	1	7.17689e-17	22	110				
TPO	7173	broad.mit.edu	37	2	1507769	1507769	+	Silent	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:1507769G>A	ENST00000345913.4	+	14	2527	c.2436G>A	c.(2434-2436)gcG>gcA	p.A812A	TPO_ENST00000337415.3_Silent_p.A812A|TPO_ENST00000346956.3_Intron|TPO_ENST00000382198.1_Silent_p.A639A|TPO_ENST00000329066.4_Silent_p.A812A|TPO_ENST00000382201.3_Silent_p.A755A|TPO_ENST00000349624.3_Silent_p.A639A|TPO_ENST00000497517.2_3'UTR	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	812	EGF-like; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACGCCTCTGCGAGGTGCAGAA	0.622																																						ENST00000345913.4																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2434-2436)gcG>gcA		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						73.0	70.0	71.0					2																	1507769		2203	4300	6503	SO:0001819	synonymous_variant	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1507769G>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2436G>A	2.37:g.1507769G>A						TPO_ENST00000382198.1_Silent_p.A639A|TPO_ENST00000382201.3_Silent_p.A755A|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000346956.3_Intron|TPO_ENST00000337415.3_Silent_p.A812A|TPO_ENST00000329066.4_Silent_p.A812A|TPO_ENST00000349624.3_Silent_p.A639A	p.A812A	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	14	2527	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	812			EGF-like; calcium-binding (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	ENST00000345913.4	37	c.2436G>A	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	G	1.985	-0.433085	0.04669	.	.	ENSG00000115705	ENST00000446278	.	.	.	4.53	-6.96	0.01622	.	.	.	.	.	T	0.35248	0.0925	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38090	-0.9677	4	.	.	.	-24.4796	1.9598	0.03384	0.1865:0.0978:0.2321:0.4836	.	.	.	.	Q	287	.	.	R	+	2	0	TPO	1486776	0.001000	0.12720	0.002000	0.10522	0.180000	0.23129	-0.572000	0.05881	-1.432000	0.01979	0.453000	0.30009	CGA		0.622	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		7	63	0	0	0	1	0	7	63				
DZIP3	9666	broad.mit.edu	37	3	108324266	108324266	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr3:108324266C>G	ENST00000361582.3	+	2	243	c.13C>G	c.(13-15)Cca>Gca	p.P5A	DZIP3_ENST00000463306.1_Missense_Mutation_p.P5A	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	5					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GGATTCTCTACCAGATGAATT	0.423																																						ENST00000361582.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(13-15)Cca>Gca		DAZ interacting zinc finger protein 3							116.0	122.0	120.0					3																	108324266		2203	4300	6503	SO:0001583	missense	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108324266C>G	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.13C>G	3.37:g.108324266C>G	ENSP00000355028:p.Pro5Ala					DZIP3_ENST00000463306.1_Missense_Mutation_p.P5A	p.P5A	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			2	243	+			5					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.13C>G	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	C	6.562	0.472043	0.12461	.	.	ENSG00000198919	ENST00000393969;ENST00000361582;ENST00000479138;ENST00000497905;ENST00000463306	T;T	0.16196	2.36;2.36	4.48	-0.497	0.12023	.	0.642386	0.13869	N	0.357129	T	0.07683	0.0193	N	0.24115	0.695	0.22446	N	0.999092	B	0.02656	0.0	B	0.01281	0.0	T	0.37056	-0.9722	10	0.15952	T	0.53	0.0541	1.7366	0.02943	0.1454:0.3167:0.3456:0.1924	.	5	Q86Y13	DZIP3_HUMAN	A	5	ENSP00000355028:P5A;ENSP00000419981:P5A	ENSP00000355028:P5A	P	+	1	0	DZIP3	109806956	0.849000	0.29639	0.722000	0.30670	0.778000	0.44026	-0.436000	0.06922	-0.103000	0.12175	0.585000	0.79938	CCA		0.423	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		11	65	0	0	0	1	0	11	65				
CDH15	1013	broad.mit.edu	37	16	89261450	89261450	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr16:89261450G>A	ENST00000289746.2	+	14	2397	c.2332G>A	c.(2332-2334)Gac>Aac	p.D778N		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	778					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CCGGCTGGCAGACATGTATGG	0.667																																						ENST00000289746.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(2332-2334)Gac>Aac		cadherin 15, type 1, M-cadherin (myotubule)							29.0	30.0	30.0					16																	89261450		2189	4291	6480	SO:0001583	missense	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89261450G>A	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.2332G>A	16.37:g.89261450G>A	ENSP00000289746:p.Asp778Asn						p.D778N	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	14	2397	+			778						Missense_Mutation	SNP	ENST00000289746.2	37	c.2332G>A	CCDS10976.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349065	0.61183	.	.	ENSG00000129910	ENST00000289746	T	0.78481	-1.18	4.93	4.93	0.64822	Cadherin, cytoplasmic domain (1);	0.000000	0.56097	D	0.000039	D	0.86456	0.5937	M	0.72894	2.215	0.37924	D	0.931799	D	0.54207	0.965	D	0.63113	0.911	D	0.89692	0.3898	10	0.87932	D	0	.	16.9044	0.86122	0.0:0.0:1.0:0.0	.	778	P55291	CAD15_HUMAN	N	778	ENSP00000289746:D778N	ENSP00000289746:D778N	D	+	1	0	CDH15	87788951	1.000000	0.71417	0.809000	0.32408	0.227000	0.25037	3.919000	0.56439	2.279000	0.76181	0.561000	0.74099	GAC		0.667	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933		7	36	0	0	0	1	0	7	36				
CD163	9332	broad.mit.edu	37	12	7639514	7639514	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr12:7639514C>T	ENST00000359156.4	-	9	2321	c.2119G>A	c.(2119-2121)Gaa>Aaa	p.E707K	CD163_ENST00000432237.2_Missense_Mutation_p.E707K|CD163_ENST00000396620.3_Missense_Mutation_p.E740K|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000541972.1_Missense_Mutation_p.E695K	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	707					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	GCACTTTCTTCTGGAATGGTA	0.408																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(2119-2121)Gaa>Aaa		CD163 molecule							103.0	92.0	96.0					12																	7639514		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7639514C>T	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.2119G>A	12.37:g.7639514C>T	ENSP00000352071:p.Glu707Lys					CD163_ENST00000541972.1_Missense_Mutation_p.E695K|CD163_ENST00000396620.3_Missense_Mutation_p.E740K|CD163_ENST00000432237.2_Missense_Mutation_p.E707K	p.E707K	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			9	2321	-			707					C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.2119G>A	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.097911	0.37048	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.01258	5.09;5.1;5.09;5.09	5.54	0.127	0.14727	.	1.032170	0.07657	N	0.932900	T	0.01189	0.0039	N	0.20685	0.6	0.09310	N	1	B;B;B	0.11235	0.001;0.004;0.001	B;B;B	0.09377	0.002;0.004;0.002	T	0.47573	-0.9107	10	0.44086	T	0.13	.	4.4377	0.11559	0.0:0.4179:0.3153:0.2668	.	740;707;707	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	K	707;695;740;707	ENSP00000352071:E707K;ENSP00000444071:E695K;ENSP00000379863:E740K;ENSP00000403885:E707K	ENSP00000352071:E707K	E	-	1	0	CD163	7530781	0.000000	0.05858	0.002000	0.10522	0.296000	0.27459	0.068000	0.14531	0.354000	0.24105	0.650000	0.86243	GAA		0.408	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		24	98	0	0	0	1	0	24	98				
IFRD1	3475	broad.mit.edu	37	7	112099011	112099011	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr7:112099011C>G	ENST00000403825.3	+	5	766	c.505C>G	c.(505-507)Ctt>Gtt	p.L169V	IFRD1_ENST00000005558.4_Missense_Mutation_p.L169V|IFRD1_ENST00000535603.1_Missense_Mutation_p.L119V|IFRD1_ENST00000486688.1_3'UTR	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	169					adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						TTTGAAAACTCTTGGACCAAT	0.388																																						ENST00000403825.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						c.(505-507)Ctt>Gtt		interferon-related developmental regulator 1							107.0	105.0	106.0					7																	112099011		2203	4300	6503	SO:0001583	missense	3475				multicellular organismal development|myoblast cell fate determination		binding	g.chr7:112099011C>G	Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.505C>G	7.37:g.112099011C>G	ENSP00000384477:p.Leu169Val					IFRD1_ENST00000486688.1_3'UTR|IFRD1_ENST00000535603.1_Missense_Mutation_p.L119V|IFRD1_ENST00000005558.4_Missense_Mutation_p.L169V	p.L169V	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN			5	766	+			169					B7Z5G1|O75234|Q5U013|Q9BVE4	Missense_Mutation	SNP	ENST00000403825.3	37	c.505C>G	CCDS34736.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771988	0.49680	.	.	ENSG00000006652	ENST00000005558;ENST00000403825;ENST00000440625;ENST00000535603	T;T;T;T	0.70045	-0.45;-0.45;1.25;-0.45	5.78	5.78	0.91487	Interferon-related developmental regulator, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.055637	0.64402	D	0.000001	T	0.69975	0.3171	M	0.72894	2.215	0.58432	D	0.999998	B	0.31655	0.334	B	0.38225	0.268	T	0.68769	-0.5321	10	0.42905	T	0.14	-21.2479	14.7971	0.69886	0.1442:0.8558:0.0:0.0	.	169	O00458	IFRD1_HUMAN	V	169;169;119;119	ENSP00000005558:L169V;ENSP00000384477:L169V;ENSP00000402177:L119V;ENSP00000439188:L119V	ENSP00000005558:L169V	L	+	1	0	IFRD1	111886247	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.635000	0.54309	2.733000	0.93635	0.591000	0.81541	CTT		0.388	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	NM_001550		8	209	0	0	0	1	0	8	209				
IFFO1	25900	broad.mit.edu	37	12	6659915	6659915	+	Silent	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr12:6659915C>T	ENST00000396840.2	-	3	917	c.876G>A	c.(874-876)ctG>ctA	p.L292L	IFFO1_ENST00000336604.4_Silent_p.L292L|IFFO1_ENST00000356896.4_Silent_p.L292L|IFFO1_ENST00000436152.2_5'UTR|IFFO1_ENST00000465801.1_5'UTR			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	292						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						GTTCCACCTTCAGTGCCAGCT	0.582																																						ENST00000336604.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(874-876)ctG>ctA		intermediate filament family orphan 1							123.0	84.0	97.0					12																	6659915		2203	4300	6503	SO:0001819	synonymous_variant	25900					intermediate filament		g.chr12:6659915C>T	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"""Intermediate filament family orphans"""	24970	protein-coding gene	gene with protein product		610495	"""intermediate filament family orphan"""	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.876G>A	12.37:g.6659915C>T						IFFO1_ENST00000436152.2_5'UTR|IFFO1_ENST00000356896.4_Silent_p.L292L|IFFO1_ENST00000465801.1_5'UTR|IFFO1_ENST00000396840.2_Silent_p.L292L	p.L292L	NM_080730.4	NP_542768.2	Q0D2I5	IFFO1_HUMAN			3	917	-			292					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Silent	SNP	ENST00000396840.2	37	c.876G>A																																																																																					0.582	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		9	40	0	0	0	1	0	9	40				
UBR5	51366	broad.mit.edu	37	8	103354814	103354814	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr8:103354814C>G	ENST00000520539.1	-	9	1591	c.985G>C	c.(985-987)Gat>Cat	p.D329H	UBR5_ENST00000521922.1_Missense_Mutation_p.D323H|UBR5_ENST00000220959.4_Missense_Mutation_p.D329H	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	329					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTTTCATTATCAAATGAGGCT	0.448																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(985-987)Gat>Cat		ubiquitin protein ligase E3 component n-recognin 5							152.0	138.0	143.0					8																	103354814		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103354814C>G	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.985G>C	8.37:g.103354814C>G	ENSP00000429084:p.Asp329His					UBR5_ENST00000220959.4_Missense_Mutation_p.D329H|UBR5_ENST00000521922.1_Missense_Mutation_p.D323H	p.D329H	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		9	1591	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		329					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.985G>C	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935255	0.92458	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.52526	0.66;0.66;0.71	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.65893	0.2735	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.99	T	0.65685	-0.6108	10	0.52906	T	0.07	.	19.1804	0.93620	0.0:1.0:0.0:0.0	.	323;329	E7EMW7;O95071	.;UBR5_HUMAN	H	329;329;323	ENSP00000429084:D329H;ENSP00000220959:D329H;ENSP00000427819:D323H	ENSP00000220959:D329H	D	-	1	0	UBR5	103423990	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.606000	0.88127	0.650000	0.86243	GAT		0.448	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		11	157	0	0	0	1	0	11	157				
BMP2K	55589	broad.mit.edu	37	4	79782574	79782574	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr4:79782574C>T	ENST00000335016.5	+	9	1185	c.1019C>T	c.(1018-1020)cCg>cTg	p.P340L	BMP2K_ENST00000502871.1_Missense_Mutation_p.P340L	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	340					regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						CTTCCTGAACCGATGACTGCT	0.333																																						ENST00000335016.5																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1018-1020)cCg>cTg		BMP2 inducible kinase							58.0	56.0	57.0					4																	79782574		2202	4300	6502	SO:0001583	missense	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79782574C>T	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1019C>T	4.37:g.79782574C>T	ENSP00000334836:p.Pro340Leu					BMP2K_ENST00000502871.1_Missense_Mutation_p.P340L	p.P340L	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			9	1185	+			340					O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	c.1019C>T	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.936029|6.936029	0.97948|0.97948	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000264889|ENST00000502871;ENST00000335016	.|T;T	.|0.76316	.|-1.01;-0.92	5.82|5.82	5.82|5.82	0.92795|0.92795	.|Protein kinase-like domain (1);	.|0.062472	.|0.64402	.|D	.|0.000004	.|D	.|0.83151	.|0.5192	M|M	0.73598|0.73598	2.24|2.24	0.80722|0.80722	D|D	1|1	.|P;P	.|0.52463	.|0.953;0.953	.|P;P	.|0.48304	.|0.573;0.573	.|D	.|0.84579	.|0.0660	.|10	.|0.59425	.|D	.|0.04	.|-11.3717	19.7037|19.7037	0.96065|0.96065	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|340;340	.|Q9NSY1;Q4W5H2	.|BMP2K_HUMAN;.	.|L	-1|340	.|ENSP00000421768:P340L;ENSP00000334836:P340L	.|ENSP00000334836:P340L	.|P	+|+	.|2	.|0	BMP2K|BMP2K	80001598|80001598	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.988000|6.988000	0.76212|0.76212	2.756000|2.756000	0.94617|0.94617	0.563000|0.563000	0.77884|0.77884	.|CCG		0.333	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		6	56	0	0	0	1	0	6	56				
EIF5A	1984	broad.mit.edu	37	17	7214792	7214792	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr17:7214792G>C	ENST00000336458.8	+	4	795	c.394G>C	c.(394-396)Gag>Cag	p.E132Q	EIF5A_ENST00000571955.1_Missense_Mutation_p.E132Q|EIF5A_ENST00000576930.1_Missense_Mutation_p.E132Q|EIF5A_ENST00000336452.7_Missense_Mutation_p.E162Q|EIF5A_ENST00000416016.2_Missense_Mutation_p.E132Q|EIF5A_ENST00000572815.1_Missense_Mutation_p.E132Q|EIF5A_ENST00000573542.1_Missense_Mutation_p.E132Q|GPS2_ENST00000391950.3_3'UTR|EIF5A_ENST00000419711.2_Missense_Mutation_p.E132Q	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	132					apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|mRNA export from nucleus (GO:0006406)|nucleocytoplasmic transport (GO:0006913)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|translational frameshifting (GO:0006452)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation elongation factor activity (GO:0003746)|U6 snRNA binding (GO:0017070)			endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						CTGTGGAGAAGAGATCCTGGT	0.542																																						ENST00000336458.8																			0				endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						c.(394-396)Gag>Cag		eukaryotic translation initiation factor 5A							259.0	229.0	239.0					17																	7214792		2203	4300	6503	SO:0001583	missense	1984				induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding	g.chr17:7214792G>C		CCDS11099.1, CCDS45601.1	17p13-p12	2009-05-01			ENSG00000132507	ENSG00000132507			3300	protein-coding gene	gene with protein product		600187				7759117	Standard	NM_001143760		Approved	EIF5A1, EIF-5A, MGC99547, MGC104255	uc002gfr.3	P63241	OTTHUMG00000102197	ENST00000336458.8:c.394G>C	17.37:g.7214792G>C	ENSP00000336776:p.Glu132Gln					EIF5A_ENST00000336452.7_Missense_Mutation_p.E162Q|GPS2_ENST00000391950.3_3'UTR|EIF5A_ENST00000576930.1_Missense_Mutation_p.E132Q|EIF5A_ENST00000419711.2_Missense_Mutation_p.E132Q|EIF5A_ENST00000572815.1_Missense_Mutation_p.E132Q|EIF5A_ENST00000573542.1_Missense_Mutation_p.E132Q|EIF5A_ENST00000571955.1_Missense_Mutation_p.E132Q|EIF5A_ENST00000416016.2_Missense_Mutation_p.E132Q	p.E132Q	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN			4	795	+			132					A8K9A0|D3DTP2|P10159|Q16182|Q7L7L3|Q7Z4L1|Q9D0G2	Missense_Mutation	SNP	ENST00000336458.8	37	c.394G>C	CCDS11099.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168179	0.57476	.	.	ENSG00000132507	ENST00000336452;ENST00000336458;ENST00000419711;ENST00000416016	T;T;T;T	0.46819	0.86;0.89;0.89;0.89	4.45	4.45	0.53987	Nucleic acid-binding, OB-fold-like (1);Translation elongation factor, IF5A C-terminal (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.64402	D	0.000001	T	0.49201	0.1543	M	0.62088	1.915	0.80722	D	1	B;B	0.22346	0.021;0.068	B;B	0.25987	0.065;0.023	T	0.54063	-0.8349	10	0.66056	D	0.02	-10.5037	16.3698	0.83350	0.0:0.0:1.0:0.0	.	132;162	P63241;P63241-2	IF5A1_HUMAN;.	Q	162;132;132;132	ENSP00000336702:E162Q;ENSP00000336776:E132Q;ENSP00000390677:E132Q;ENSP00000396073:E132Q	ENSP00000336702:E162Q	E	+	1	0	EIF5A	7155516	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.925000	0.70062	2.471000	0.83476	0.655000	0.94253	GAG		0.542	EIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220047.3	NM_001970		4	105	0	0	0	1	0	4	105				
CLEC4M	10332	broad.mit.edu	37	19	7828326	7828326	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr19:7828326C>T	ENST00000327325.5	+	2	212	c.94C>T	c.(94-96)Caa>Taa	p.Q32*	CLEC4M_ENST00000248228.4_Nonsense_Mutation_p.Q32*|CLEC4M_ENST00000359059.5_Nonsense_Mutation_p.Q32*|CLEC4M_ENST00000597522.1_Nonsense_Mutation_p.Q32*|CLEC4M_ENST00000394122.2_Nonsense_Mutation_p.Q24*|CLEC4M_ENST00000357361.2_Nonsense_Mutation_p.Q32*|CLEC4M_ENST00000596363.1_Intron|CLEC4M_ENST00000334806.5_Intron|CLEC4M_ENST00000596707.1_Nonsense_Mutation_p.Q32*|CLEC4M_ENST00000595496.1_Nonsense_Mutation_p.Q32*	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	32					antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AAGAGACTTTCAATTCCAGCA	0.522																																						ENST00000327325.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						c.(94-96)Caa>Taa		C-type lectin domain family 4, member M							103.0	101.0	102.0					19																	7828326		2203	4300	6503	SO:0001587	stop_gained	10332				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	g.chr19:7828326C>T	AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"""C-type lectin domain containing"", ""CD molecules"""	13523	protein-coding gene	gene with protein product		605872	"""CD299 antigen"""	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.94C>T	19.37:g.7828326C>T	ENSP00000316228:p.Gln32*					CLEC4M_ENST00000248228.4_Nonsense_Mutation_p.Q32*|CLEC4M_ENST00000359059.5_Nonsense_Mutation_p.Q32*|CLEC4M_ENST00000334806.5_Intron|CLEC4M_ENST00000357361.2_Nonsense_Mutation_p.Q32*|CLEC4M_ENST00000597522.1_Nonsense_Mutation_p.Q32*|CLEC4M_ENST00000394122.2_Nonsense_Mutation_p.Q24*|CLEC4M_ENST00000595496.1_Nonsense_Mutation_p.Q32*|CLEC4M_ENST00000596707.1_Nonsense_Mutation_p.Q32*|CLEC4M_ENST00000596363.1_Intron	p.Q32*	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN			2	212	+			32					A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Nonsense_Mutation	SNP	ENST00000327325.5	37	c.94C>T	CCDS12187.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883193	0.51908	.	.	ENSG00000104938	ENST00000327325;ENST00000394122;ENST00000248228;ENST00000359059;ENST00000357361	.	.	.	2.5	0.0694	0.14374	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	3.6176	0.08083	0.1801:0.267:0.5529:0.0	.	.	.	.	X	32;24;32;32;32	.	ENSP00000248228:Q32X	Q	+	1	0	CLEC4M	7734326	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.004000	0.13106	-0.053000	0.13289	-0.811000	0.03165	CAA		0.522	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	NM_014257		6	76	0	0	0	1	0	6	76				
NYAP2	57624	broad.mit.edu	37	2	226273608	226273608	+	Silent	SNP	C	C	G			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:226273608C>G	ENST00000272907.6	+	2	425	c.12C>G	c.(10-12)tcC>tcG	p.S4S	NYAP2_ENST00000409269.2_Silent_p.S4S	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	4					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												TGATATCCTCCAAGATGATGA	0.428																																						ENST00000272907.6																			0											c.(10-12)tcC>tcG		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2							125.0	112.0	116.0					2																	226273608		1891	4127	6018	SO:0001819	synonymous_variant	57624							g.chr2:226273608C>G	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.12C>G	2.37:g.226273608C>G						NYAP2_ENST00000409269.2_Silent_p.S4S	p.S4S	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN			2	425	+			4					A2RRN4|Q96NL2	Silent	SNP	ENST00000272907.6	37	c.12C>G	CCDS46529.1																																																																																				0.428	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		9	74	0	0	0	1	0	9	74				
ITIH2	3698	broad.mit.edu	37	10	7786082	7786082	+	Silent	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr10:7786082G>A	ENST00000358415.4	+	18	2413	c.2247G>A	c.(2245-2247)aaG>aaA	p.K749K	ITIH2_ENST00000379587.4_Silent_p.K738K	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	749					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GTGCCAAGAAGCCCAACAATG	0.383																																						ENST00000358415.4																			0				NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(2245-2247)aaG>aaA		inter-alpha-trypsin inhibitor heavy chain 2							78.0	79.0	79.0					10																	7786082		2203	4300	6503	SO:0001819	synonymous_variant	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7786082G>A	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.2247G>A	10.37:g.7786082G>A						ITIH2_ENST00000379587.4_Silent_p.K738K	p.K749K	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN			18	2413	+			749					Q14659|Q15484|Q5T986	Silent	SNP	ENST00000358415.4	37	c.2247G>A	CCDS31141.1																																																																																				0.383	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		19	70	0	0	0	1	0	19	70				
BNIP1	662	broad.mit.edu	37	5	172586982	172586982	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr5:172586982G>T	ENST00000351486.5	+	5	449	c.418G>T	c.(418-420)Gag>Tag	p.E140*	BNIP1_ENST00000352523.6_Nonsense_Mutation_p.E149*|BNIP1_ENST00000393770.4_Nonsense_Mutation_p.E106*|BNIP1_ENST00000231668.9_Nonsense_Mutation_p.E183*	NM_001205.2	NP_001196.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	140					apoptotic process (GO:0006915)|autophagy (GO:0006914)|endoplasmic reticulum membrane fusion (GO:0016320)|endoplasmic reticulum organization (GO:0007029)|execution phase of apoptosis (GO:0097194)|negative regulation of apoptotic process (GO:0043066)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TACCATCACTGAGAGCCTCAT	0.542																																						ENST00000231668.9																			0				breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11						c.(547-549)Gag>Tag		BCL2/adenovirus E1B 19kDa interacting protein 1							171.0	178.0	175.0					5																	172586982		2203	4300	6503	SO:0001587	stop_gained	662				anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding	g.chr5:172586982G>T	AF083957	CCDS4384.1, CCDS4385.1, CCDS4386.1, CCDS43400.1	5q33-q34	2008-02-05	2002-08-29		ENSG00000113734	ENSG00000113734			1082	protein-coding gene	gene with protein product		603291	"""BCL2/adenovirus E1B 19kD-interacting protein 1"""			7954800, 15272311	Standard	NM_013979		Approved	Nip1, SEC20	uc003mcj.4	Q12981	OTTHUMG00000130521	ENST00000351486.5:c.418G>T	5.37:g.172586982G>T	ENSP00000239215:p.Glu140*					BNIP1_ENST00000393770.4_Nonsense_Mutation_p.E106*|BNIP1_ENST00000351486.5_Nonsense_Mutation_p.E140*|BNIP1_ENST00000352523.6_Nonsense_Mutation_p.E149*	p.E183*	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		6	651	+	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	140					D3DQM3|D3DQM4|D3DQM5|D3DQM6|O75622|O75623|O75624|Q6K044|Q96FG4	Nonsense_Mutation	SNP	ENST00000351486.5	37	c.547G>T	CCDS4384.1	.	.	.	.	.	.	.	.	.	.	G	38	6.957684	0.97964	.	.	ENSG00000113734	ENST00000231668;ENST00000351486;ENST00000352523;ENST00000393770;ENST00000519459	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	19.821	0.96592	0.0:0.0:1.0:0.0	.	.	.	.	X	183;140;149;106;2	.	ENSP00000231668:E183X	E	+	1	0	BNIP1	172519588	1.000000	0.71417	0.978000	0.43139	0.961000	0.63080	9.465000	0.97660	2.666000	0.90696	0.650000	0.86243	GAG		0.542	BNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252939.1	NM_013979		5	193	1	0	0.014758	1	0.0150777	5	193				
TUBA3C	7278	broad.mit.edu	37	13	19753597	19753597	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr13:19753597G>A	ENST00000400113.3	-	2	214	c.110C>T	c.(109-111)cCa>cTa	p.P37L	RP11-408E5.4_ENST00000382988.2_5'Flank	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	37					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TTTATCACTTGGCATCTGACC	0.547																																						ENST00000400113.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(109-111)cCa>cTa		tubulin, alpha 3c							227.0	187.0	201.0					13																	19753597		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19753597G>A	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.110C>T	13.37:g.19753597G>A	ENSP00000382982:p.Pro37Leu						p.P37L	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	2	214	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	37					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.110C>T	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	g	6.893	0.534260	0.13188	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.65916	-0.18	1.37	0.444	0.16592	.	0.000000	0.47455	U	0.000224	T	0.65616	0.2708	.	.	.	0.52501	D	0.999958	.	.	.	.	.	.	T	0.64271	-0.6447	7	0.87932	D	0	.	7.3395	0.26630	0.0:0.2762:0.7237:0.0	.	.	.	.	L	37	ENSP00000382982:P37L	ENSP00000354037:P37L	P	-	2	0	TUBA3C	18651597	1.000000	0.71417	0.998000	0.56505	0.754000	0.42855	5.141000	0.64814	0.127000	0.18452	0.194000	0.17425	CCA		0.547	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		16	130	0	0	0	1	0	16	130				
KRTAP10-4	386672	broad.mit.edu	37	21	45993826	45993826	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr21:45993826C>T	ENST00000400374.3	+	1	221	c.191C>T	c.(190-192)tCc>tTc	p.S64F	TSPEAR_ENST00000397916.1_5'Flank|TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	64	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						AGCCGTGTGTCCAGCCCCTGC	0.716																																						ENST00000400374.3																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						c.(190-192)tCc>tTc		keratin associated protein 10-4							16.0	29.0	25.0					21																	45993826		2044	4215	6259	SO:0001583	missense	386672					keratin filament		g.chr21:45993826C>T	AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"""Keratin associated proteins"""	20521	protein-coding gene	gene with protein product			"""keratin associated protein 18-4"""	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.191C>T	21.37:g.45993826C>T	ENSP00000383225:p.Ser64Phe					TSPEAR_ENST00000323084.4_Intron	p.S64F	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN			1	221	+			64			36 X 5 AA repeats of C-C-X(3).		Q08AS0	Missense_Mutation	SNP	ENST00000400374.3	37	c.191C>T	CCDS42957.1	.	.	.	.	.	.	.	.	.	.	N	12.19	1.864177	0.32977	.	.	ENSG00000215454	ENST00000400374;ENST00000334871	T	0.28255	1.62	3.29	1.29	0.21616	.	.	.	.	.	T	0.51601	0.1684	M	0.74467	2.265	0.09310	N	1	D	0.71674	0.998	D	0.78314	0.991	T	0.37957	-0.9683	9	0.87932	D	0	.	9.3257	0.37990	0.0:0.5689:0.4311:0.0	.	64	P60372	KR104_HUMAN	F	64;53	ENSP00000383225:S64F	ENSP00000333987:S53F	S	+	2	0	KRTAP10-4	44818254	0.000000	0.05858	0.961000	0.40146	0.525000	0.34531	0.181000	0.16880	0.033000	0.15463	0.479000	0.44913	TCC		0.716	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687		13	43	0	0	0	1	0	13	43				
PARD3B	117583	broad.mit.edu	37	2	206166297	206166297	+	Silent	SNP	C	C	G			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:206166297C>G	ENST00000406610.2	+	18	2709	c.2502C>G	c.(2500-2502)gtC>gtG	p.V834V	PARD3B_ENST00000358768.2_Silent_p.V772V|PARD3B_ENST00000351153.1_Silent_p.V765V|PARD3B_ENST00000349953.3_Silent_p.V834V|PARD3B_ENST00000462231.1_Silent_p.V834V	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	834	Lys-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CCAGGAAAGTCAAAAAAACga	0.428																																						ENST00000406610.2																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(2500-2502)gtC>gtG		par-3 family cell polarity regulator beta							73.0	72.0	72.0					2																	206166297		1813	4086	5899	SO:0001819	synonymous_variant	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206166297C>G	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2502C>G	2.37:g.206166297C>G						PARD3B_ENST00000349953.3_Silent_p.V834V|PARD3B_ENST00000462231.1_Silent_p.V834V|PARD3B_ENST00000358768.2_Silent_p.V772V|PARD3B_ENST00000351153.1_Silent_p.V765V	p.V834V	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	18	2709	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	834			Lys-rich.		E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Silent	SNP	ENST00000406610.2	37	c.2502C>G																																																																																					0.428	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		12	48	0	0	0	1	0	12	48				
WHSC1L1	54904	broad.mit.edu	37	8	38162107	38162107	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr8:38162107C>G	ENST00000317025.8	-	14	3126	c.2609G>C	c.(2608-2610)aGa>aCa	p.R870T	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.R870T|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.R870T	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	870					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			ACACTCACCTCTGGCACAAAC	0.393			T	NUP98	AML																																	ENST00000317025.8				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(2608-2610)aGa>aCa		Wolf-Hirschhorn syndrome candidate 1-like 1							131.0	130.0	130.0					8																	38162107		1901	4123	6024	SO:0001583	missense	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38162107C>G	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.2609G>C	8.37:g.38162107C>G	ENSP00000313983:p.Arg870Thr					WHSC1L1_ENST00000527502.1_Missense_Mutation_p.R870T|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.R870T	p.R870T	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		14	3126	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	870					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	c.2609G>C	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.860634	0.91433	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502	D;D;D	0.95342	-3.68;-3.68;-3.68	5.62	5.62	0.85841	.	0.000000	0.52532	U	0.000062	D	0.96059	0.8716	L	0.40543	1.245	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.83275	0.991;0.996;0.991	D	0.95915	0.8926	10	0.56958	D	0.05	.	20.0246	0.97519	0.0:1.0:0.0:0.0	.	870;870;870	B7ZL11;Q9BZ95-2;Q9BZ95	.;.;NSD3_HUMAN	T	870;870;807;870	ENSP00000393284:R870T;ENSP00000313983:R870T;ENSP00000434730:R870T	ENSP00000313983:R870T	R	-	2	0	WHSC1L1	38281264	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	2.810000	0.96702	0.650000	0.86243	AGA		0.393	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		18	294	0	0	0	1	0	18	294				
PLPPR4	9890	broad.mit.edu	37	1	99767356	99767356	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:99767356G>C	ENST00000370185.3	+	6	1366	c.869G>C	c.(868-870)gGa>gCa	p.G290A	LPPR4_ENST00000457765.1_Intron|LPPR4_ENST00000370184.1_Missense_Mutation_p.G132A	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		290					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		ATCATCTGTGGAATAATCTGC	0.388																																						ENST00000370185.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(868-870)gGa>gCa									141.0	136.0	138.0					1																	99767356		2203	4300	6503	SO:0001583	missense	9890						phosphatidate phosphatase activity	g.chr1:99767356G>C																												ENST00000370185.3:c.869G>C	1.37:g.99767356G>C	ENSP00000359204:p.Gly290Ala					LPPR4_ENST00000370184.1_Missense_Mutation_p.G132A|LPPR4_ENST00000457765.1_Intron	p.G290A	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	6	1366	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	290					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.869G>C	CCDS757.1	.	.	.	.	.	.	.	.	.	.	G	5.982	0.365172	0.11296	.	.	ENSG00000117600	ENST00000370185;ENST00000263178;ENST00000370184	T;T	0.67698	-0.28;-0.28	4.92	4.92	0.64577	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.182576	0.47455	D	0.000229	T	0.15478	0.0373	N	0.00493	-1.44	0.80722	D	1	B	0.10296	0.003	B	0.13407	0.009	T	0.44651	-0.9314	10	0.02654	T	1	-18.1213	18.1104	0.89533	0.0:0.0:1.0:0.0	.	290	Q7Z2D5	LPPR4_HUMAN	A	290;290;132	ENSP00000359204:G290A;ENSP00000359203:G132A	ENSP00000263178:G290A	G	+	2	0	RP4-788L13.1	99539944	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.512000	0.60469	2.263000	0.75096	0.491000	0.48974	GGA		0.388	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			16	120	0	0	0	1	0	16	120				
ITPR1	3708	broad.mit.edu	37	3	4558249	4558249	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr3:4558249G>A	ENST00000443694.2	+	1	74	c.74G>A	c.(73-75)gGa>gAa	p.G25E	ITPR1_ENST00000423119.2_Missense_Mutation_p.G25E|ITPR1_ENST00000357086.4_Missense_Mutation_p.G25E|ITPR1_ENST00000456211.2_Missense_Mutation_p.G25E|ITPR1_ENST00000302640.8_Missense_Mutation_p.G25E|ITPR1_ENST00000544951.1_Missense_Mutation_p.G25E|ITPR1_ENST00000354582.6_Missense_Mutation_p.G25E			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	25					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TCGACAAATGGATTTATTAGC	0.378																																						ENST00000302640.8																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(73-75)gGa>gAa		inositol 1,4,5-trisphosphate receptor, type 1							206.0	197.0	200.0					3																	4558249		1927	4142	6069	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4558249G>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.74G>A	3.37:g.4558249G>A	ENSP00000401671:p.Gly25Glu					ITPR1_ENST00000456211.2_Missense_Mutation_p.G25E|ITPR1_ENST00000354582.6_Missense_Mutation_p.G25E|ITPR1_ENST00000423119.2_Missense_Mutation_p.G25E|ITPR1_ENST00000443694.2_Missense_Mutation_p.G25E|ITPR1_ENST00000357086.4_Missense_Mutation_p.G25E|ITPR1_ENST00000544951.1_Missense_Mutation_p.G25E	p.G25E	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	3	424	+			25					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.74G>A	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737517	0.89482	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.98926	-5.24;-5.24;-5.24;-5.24;-5.24;-5.24;-5.24	5.57	5.57	0.84162	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.000000	0.85682	D	0.000000	D	0.99360	0.9775	M	0.92317	3.295	0.51767	D	0.999937	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0	D	0.98942	1.0791	10	0.72032	D	0.01	.	18.3298	0.90264	0.0:0.0:1.0:0.0	.	25;25;25;25;25	B7ZMI3;E7EPX7;Q14643;E7EVP7;G5E9P1	.;.;ITPR1_HUMAN;.;.	E	25	ENSP00000306253:G25E;ENSP00000346595:G25E;ENSP00000405934:G25E;ENSP00000349597:G25E;ENSP00000397885:G25E;ENSP00000440564:G25E;ENSP00000401671:G25E	ENSP00000306253:G25E	G	+	2	0	ITPR1	4533249	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.929000	0.92859	2.602000	0.87976	0.591000	0.81541	GGA		0.378	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		10	123	0	0	0	1	0	10	123				
ZNF467	168544	broad.mit.edu	37	7	149461881	149461881	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr7:149461881G>C	ENST00000302017.3	-	5	2123	c.1710C>G	c.(1708-1710)caC>caG	p.H570Q	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	570					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCGGGGCCGCGTGGGCGGCTT	0.711																																						ENST00000302017.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13						c.(1708-1710)caC>caG		zinc finger protein 467							14.0	17.0	16.0					7																	149461881		2048	4191	6239	SO:0001583	missense	168544				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149461881G>C	BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"""Zinc fingers, C2H2-type"""	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.1710C>G	7.37:g.149461881G>C	ENSP00000304769:p.His570Gln					ZNF467_ENST00000484747.1_Intron	p.H570Q	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		5	2123	-	Melanoma(164;0.165)|Ovarian(565;0.177)		570						Missense_Mutation	SNP	ENST00000302017.3	37	c.1710C>G	CCDS5899.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.615034	0.00835	.	.	ENSG00000181444	ENST00000302017	T	0.06768	3.26	3.11	-2.24	0.06909	.	0.875626	0.09216	U	0.832543	T	0.05823	0.0152	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39165	-0.9627	10	0.87932	D	0	-12.9643	7.5715	0.27911	0.1865:0.3483:0.4652:0.0	.	570	Q7Z7K2	ZN467_HUMAN	Q	570	ENSP00000304769:H570Q	ENSP00000304769:H570Q	H	-	3	2	ZNF467	149092814	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.509000	0.06336	-0.722000	0.04922	-1.856000	0.00563	CAC		0.711	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336		11	25	0	0	0	1	0	11	25				
FSHR	2492	broad.mit.edu	37	2	49190661	49190661	+	Silent	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:49190661G>A	ENST00000406846.2	-	10	1418	c.1299C>T	c.(1297-1299)gcC>gcT	p.A433A	FSHR_ENST00000304421.4_Silent_p.A407A|FSHR_ENST00000346173.3_Silent_p.A371A|FSHR_ENST00000541117.1_Silent_p.A169A	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	433					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	GCCAGTCAATGGCATAGTTGT	0.473									Gonadal Dysgenesis, 46 XX																													ENST00000406846.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(1297-1299)gcC>gcT		follicle stimulating hormone receptor	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						107.0	103.0	104.0					2																	49190661		2203	4300	6503	SO:0001819	synonymous_variant	2492	Gonadal Dysgenesis, 46 XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49190661G>A		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1299C>T	2.37:g.49190661G>A						FSHR_ENST00000304421.4_Silent_p.A407A|FSHR_ENST00000541117.1_Silent_p.A169A|FSHR_ENST00000346173.3_Silent_p.A371A	p.A433A	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1418	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	433					A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Silent	SNP	ENST00000406846.2	37	c.1299C>T	CCDS1843.1																																																																																				0.473	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			18	79	0	0	0	1	0	18	79				
ANKRD13C	81573	broad.mit.edu	37	1	70819809	70819809	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:70819809G>C	ENST00000370944.4	-	1	596	c.283C>G	c.(283-285)Ctg>Gtg	p.L95V	HHLA3_ENST00000359875.5_5'Flank|HHLA3_ENST00000531950.1_5'Flank|HHLA3_ENST00000432224.1_5'Flank|ANKRD13C_ENST00000262346.6_Missense_Mutation_p.L95V|HHLA3_ENST00000361764.4_5'Flank|HHLA3_ENST00000370940.5_5'Flank	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	95					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						GTGCCGGCCAGAAGGGCCGGG	0.672																																						ENST00000370944.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(283-285)Ctg>Gtg		ankyrin repeat domain 13C							39.0	51.0	47.0					1																	70819809		2203	4299	6502	SO:0001583	missense	81573				protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding	g.chr1:70819809G>C		CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"""Ankyrin repeat domain containing"""	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.283C>G	1.37:g.70819809G>C	ENSP00000359982:p.Leu95Val					ANKRD13C_ENST00000262346.6_Missense_Mutation_p.L95V	p.L95V	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN			1	596	-			95					B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Missense_Mutation	SNP	ENST00000370944.4	37	c.283C>G	CCDS648.2	.	.	.	.	.	.	.	.	.	.	G	10.62	1.401112	0.25291	.	.	ENSG00000118454	ENST00000370944;ENST00000262346	T;T	0.47528	0.86;0.84	4.04	2.06	0.26882	.	1.409660	0.04527	N	0.385613	T	0.14141	0.0342	N	0.19112	0.55	0.09310	N	1	B;B;B	0.19331	0.034;0.0;0.035	B;B;B	0.19946	0.01;0.0;0.027	T	0.19877	-1.0292	10	0.29301	T	0.29	.	7.4426	0.27192	0.1027:0.1857:0.7117:0.0	.	95;95;95	Q8N6S4-2;Q8N6S4-3;Q8N6S4	.;.;AN13C_HUMAN	V	95	ENSP00000359982:L95V;ENSP00000262346:L95V	ENSP00000262346:L95V	L	-	1	2	ANKRD13C	70592397	0.416000	0.25424	0.046000	0.18839	0.920000	0.55202	0.700000	0.25601	0.402000	0.25451	0.462000	0.41574	CTG		0.672	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025903.1	NM_030816		9	64	0	0	0	1	0	9	64				
PRICKLE4	29964	broad.mit.edu	37	6	41753234	41753234	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr6:41753234C>T	ENST00000394260.1	+	3	418	c.418C>T	c.(418-420)Cat>Tat	p.H140Y	TOMM6_ENST00000398884.3_5'Flank|TOMM6_ENST00000398881.3_5'Flank|PRICKLE4_ENST00000394263.1_Missense_Mutation_p.H180Y|PRICKLE4_ENST00000394259.1_Missense_Mutation_p.H140Y|PRICKLE4_ENST00000359201.5_Missense_Mutation_p.H180Y|PRICKLE4_ENST00000458694.1_Missense_Mutation_p.H180Y			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	140	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.					nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGCGGCCGTCATCATGCAGA	0.617																																						ENST00000359201.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13						c.(538-540)Cat>Tat		prickle homolog 4 (Drosophila)							43.0	44.0	44.0					6																	41753234		2203	4300	6503	SO:0001583	missense	29964					nucleus	zinc ion binding	g.chr6:41753234C>T	AF216754	CCDS34449.1	6p21.1	2010-08-05	2007-09-18	2007-09-18	ENSG00000124593	ENSG00000124593			16805	protein-coding gene	gene with protein product		611389	"""chromosome 6 open reading frame 49"""	C6orf49		15702247	Standard	NM_013397		Approved	OEBT, DKFZp761H221	uc011duf.1	Q2TBC4	OTTHUMG00000014685	ENST00000394260.1:c.418C>T	6.37:g.41753234C>T	ENSP00000377803:p.His140Tyr					PRICKLE4_ENST00000458694.1_Missense_Mutation_p.H180Y|PRICKLE4_ENST00000394259.1_Missense_Mutation_p.H140Y|PRICKLE4_ENST00000394260.1_Missense_Mutation_p.H140Y|PRICKLE4_ENST00000394263.1_Missense_Mutation_p.H180Y	p.H180Y			Q2TBC4	PRIC4_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		5	1127	+	Ovarian(28;0.0355)|Colorectal(47;0.121)		140			LIM zinc-binding 2.		A2A3M0|A6PVU1|B3KQ15|Q5T3D4|Q9NSV1	Missense_Mutation	SNP	ENST00000394260.1	37	c.538C>T		.	.	.	.	.	.	.	.	.	.	C	20.7	4.037205	0.75617	.	.	ENSG00000124593	ENST00000458694;ENST00000359201;ENST00000394263;ENST00000394259;ENST00000394260	D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32	4.71	4.71	0.59529	.	0.000000	0.47455	D	0.000239	D	0.95332	0.8485	H	0.95884	3.735	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.96618	0.9457	10	0.87932	D	0	-16.2273	16.5913	0.84766	0.0:1.0:0.0:0.0	.	180	Q2TBC4-3	.	Y	180;180;180;140;140	ENSP00000404911:H180Y;ENSP00000352128:H180Y;ENSP00000377806:H180Y;ENSP00000377802:H140Y;ENSP00000377803:H140Y	ENSP00000335185:H180Y	H	+	1	0	PRICKLE4	41861212	1.000000	0.71417	1.000000	0.80357	0.485000	0.33311	7.389000	0.79806	2.455000	0.83008	0.561000	0.74099	CAT		0.617	PRICKLE4-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000303948.1	NM_013397		8	57	0	0	0	1	0	8	57				
IGLV10-54	28772	broad.mit.edu	37	22	22569391	22569391	+	RNA	SNP	C	C	G			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr22:22569391C>G	ENST00000390287.2	+	0	96									immunoglobulin lambda variable 10-54																		CAGCCACCCTCGGTGTCCAAG	0.592																																						ENST00000390287.2																			0																				27.0	30.0	29.0					22																	22569391		2140	4258	6398			28772							g.chr22:22569391C>G	Z73676		22q11.2	2012-02-08			ENSG00000211642	ENSG00000211642		"""Immunoglobulins / IGL locus"""	5884	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000150993		22.37:g.22569391C>G														0	96	+									RNA	SNP	ENST00000390287.2	37																																																																																						0.592	IGLV10-54-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000320858.1	NG_000002		4	18	0	0	0	1	0	4	18				
GLIPR1L1	256710	broad.mit.edu	37	12	75763946	75763946	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr12:75763946G>C	ENST00000378695.4	+	6	809	c.719G>C	c.(718-720)aGa>aCa	p.R240T	GLIPR1L1_ENST00000548623.1_3'UTR|GLIPR1L1_ENST00000312442.2_Missense_Mutation_p.R231T|CAPS2_ENST00000442339.2_Intron			Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	240					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|sperm connecting piece (GO:0097224)				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						CTTCTTCTGAGAATCTTTTAA	0.313																																						ENST00000312442.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						c.(691-693)aGa>aCa		GLI pathogenesis-related 1 like 1							68.0	74.0	72.0					12																	75763946		2203	4300	6503	SO:0001583	missense	256710					extracellular region		g.chr12:75763946G>C	BC014603	CCDS9009.1	12q21.1	2014-06-03				ENSG00000173401			28392	protein-coding gene	gene with protein product		610395				12477932	Standard	NM_152779		Approved	MGC26856	uc001sxn.3	Q6UWM5	OTTHUMG00000169755	ENST00000378695.4:c.719G>C	12.37:g.75763946G>C	ENSP00000367967:p.Arg240Thr					CAPS2_ENST00000442339.2_Intron|GLIPR1L1_ENST00000378695.4_Missense_Mutation_p.R240T|GLIPR1L1_ENST00000548623.1_3'UTR	p.R231T	NM_152779.2	NP_689992.1	Q6UWM5	GPRL1_HUMAN			5	738	+			240					Q96L06	Missense_Mutation	SNP	ENST00000378695.4	37	c.692G>C		.	.	.	.	.	.	.	.	.	.	G	6.423	0.446180	0.12164	.	.	ENSG00000173401	ENST00000378695;ENST00000312442	T;T	0.11169	2.87;2.8	3.86	-4.42	0.03579	.	1.381330	0.04677	N	0.411687	T	0.11580	0.0282	L	0.34521	1.04	0.09310	N	1	B;D	0.55800	0.098;0.973	B;P	0.54270	0.02;0.747	T	0.14504	-1.0470	10	0.45353	T	0.12	.	0.2227	0.00170	0.2526:0.2522:0.2385:0.2568	.	240;231	Q6UWM5;Q6UWM5-2	GPRL1_HUMAN;.	T	240;231	ENSP00000367967:R240T;ENSP00000310770:R231T	ENSP00000310770:R231T	R	+	2	0	GLIPR1L1	74050213	0.000000	0.05858	0.000000	0.03702	0.195000	0.23768	-0.854000	0.04299	-1.005000	0.03417	-1.220000	0.01600	AGA		0.313	GLIPR1L1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000405714.1	NM_152779		7	55	0	0	0	1	0	7	55				
RHOH	399	broad.mit.edu	37	4	40245496	40245496	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr4:40245496G>C	ENST00000381799.5	+	3	1214	c.490G>C	c.(490-492)Gag>Cag	p.E164Q	RHOH_ENST00000505618.1_Missense_Mutation_p.E164Q	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	164					mast cell activation (GO:0045576)|negative regulation of catalytic activity (GO:0043086)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of phosphorylation (GO:0042326)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase inhibitor activity (GO:0005095)|kinase inhibitor activity (GO:0019210)|Rho GTPase binding (GO:0017048)			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						GCAGGTGTTTGAGTGCGCCGT	0.547																																						ENST00000381799.4																			0				kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						c.(490-492)Gag>Cag		ras homolog family member H							41.0	42.0	42.0					4																	40245496		2203	4300	6503	SO:0001583	missense	399				negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding	g.chr4:40245496G>C	Z35227	CCDS3458.1	4p13	2014-09-17	2012-02-27	2004-03-24	ENSG00000168421	ENSG00000168421			686	protein-coding gene	gene with protein product		602037	"""ras homolog gene family, member H"""	ARHH		7784061	Standard	NM_001278359		Approved	RhoH, TTF	uc003guz.2	Q15669	OTTHUMG00000099373	ENST00000381799.5:c.490G>C	4.37:g.40245496G>C	ENSP00000371219:p.Glu164Gln					RHOH_ENST00000505618.1_Missense_Mutation_p.E164Q	p.E164Q	NM_001278363.1|NM_001278365.1|NM_004310.3	NP_001265292.1|NP_001265294.1|NP_004301.1	Q15669	RHOH_HUMAN			3	1214	+			164						Missense_Mutation	SNP	ENST00000381799.5	37	c.490G>C	CCDS3458.1	.	.	.	.	.	.	.	.	.	.	g	24.6	4.551017	0.86127	.	.	ENSG00000168421	ENST00000505618;ENST00000381799	T;T	0.71103	-0.54;-0.54	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.82153	0.4975	L	0.48986	1.54	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.82325	-0.0513	10	0.87932	D	0	.	20.3495	0.98807	0.0:0.0:1.0:0.0	.	164	Q15669	RHOH_HUMAN	Q	164	ENSP00000425010:E164Q;ENSP00000371219:E164Q	ENSP00000371219:E164Q	E	+	1	0	RHOH	39921891	1.000000	0.71417	0.995000	0.50966	0.620000	0.37586	9.434000	0.97515	2.814000	0.96858	0.591000	0.81541	GAG		0.547	RHOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216820.3	NM_004310		11	47	0	0	0	1	0	11	47				
UGT2B17	7367	broad.mit.edu	37	4	69433570	69433570	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr4:69433570C>G	ENST00000317746.2	-	1	675	c.633G>C	c.(631-633)agG>agC	p.R211S		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	211					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30					Losartan(DB00678)	TATTTTTTATCCTCTCCATGA	0.353																																					Melanoma(18;649 833 28984 37818 38500)	ENST00000317746.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						c.(631-633)agG>agC		UDP glucuronosyltransferase 2 family, polypeptide B17							68.0	70.0	69.0					4																	69433570		2087	3903	5990	SO:0001583	missense	7367				steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69433570C>G	U59209	CCDS3523.1	4q13	2008-02-05	2005-07-20		ENSG00000197888	ENSG00000197888		"""UDP glucuronosyltransferases"""	12547	protein-coding gene	gene with protein product		601903	"""UDP glycosyltransferase 2 family, polypeptide B17"""			8798464	Standard	NM_001077		Approved		uc021xov.1	O75795	OTTHUMG00000129305	ENST00000317746.2:c.633G>C	4.37:g.69433570C>G	ENSP00000320401:p.Arg211Ser						p.R211S	NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN			1	675	-			211						Missense_Mutation	SNP	ENST00000317746.2	37	c.633G>C	CCDS3523.1	.	.	.	.	.	.	.	.	.	.	c	11.30	1.597447	0.28445	.	.	ENSG00000197888	ENST00000317746	T	0.72394	-0.65	2.66	0.846	0.18955	.	0.000000	0.64402	U	0.000002	D	0.84311	0.5444	H	0.97611	4.04	0.24754	N	0.992962	.	.	.	.	.	.	T	0.75690	-0.3230	8	0.87932	D	0	.	6.3089	0.21154	0.0:0.713:0.0:0.287	.	.	.	.	S	211	ENSP00000320401:R211S	ENSP00000320401:R211S	R	-	3	2	UGT2B17	69116165	0.000000	0.05858	0.990000	0.47175	0.331000	0.28603	-0.384000	0.07389	0.469000	0.27268	0.499000	0.49734	AGG		0.353	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251436.1	NM_001077		18	276	0	0	0	1	0	18	276				
NDUFV1	4723	broad.mit.edu	37	11	67376948	67376948	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:67376948G>C	ENST00000322776.6	+	4	505	c.352G>C	c.(352-354)Gac>Cac	p.D118H	NDUFV1_ENST00000526169.1_3'UTR|NDUFV1_ENST00000415352.2_Missense_Mutation_p.D111H|C11orf72_ENST00000333139.3_5'Flank|RP11-655M14.12_ENST00000533876.1_RNA|NDUFV1_ENST00000529927.1_Missense_Mutation_p.D109H|NDUFV1_ENST00000532303.1_Missense_Mutation_p.D17H	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	118					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						GGTGAACGCAGACGAGGGGGA	0.652																																						ENST00000322776.6																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						c.(352-354)Gac>Cac		NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	NADH(DB00157)						55.0	69.0	64.0					11																	67376948		2200	4295	6495	SO:0001583	missense	4723				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	g.chr11:67376948G>C	AF092131	CCDS8173.1, CCDS53669.1	11q13	2011-07-04	2002-08-29		ENSG00000167792	ENSG00000167792	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7716	protein-coding gene	gene with protein product	"""complex I 51kDa subunit"", ""NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial"""	161015	"""NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)"""			1478657	Standard	NM_007103		Approved	CI-51K	uc001omj.2	P49821	OTTHUMG00000166215	ENST00000322776.6:c.352G>C	11.37:g.67376948G>C	ENSP00000322450:p.Asp118His					NDUFV1_ENST00000415352.2_Missense_Mutation_p.D111H|NDUFV1_ENST00000532303.1_Missense_Mutation_p.D17H|NDUFV1_ENST00000526169.1_3'UTR|NDUFV1_ENST00000529927.1_Missense_Mutation_p.D109H	p.D118H	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN			4	505	+			118					O60924|O60940|Q16104|Q6IBR3|Q96BF8|Q96HS7	Missense_Mutation	SNP	ENST00000322776.6	37	c.352G>C	CCDS8173.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947978	0.73787	.	.	ENSG00000167792	ENST00000322776;ENST00000532303;ENST00000532244;ENST00000529927;ENST00000532343;ENST00000415352;ENST00000533075;ENST00000529867;ENST00000530638;ENST00000528314	D;D;D;D;D;D;D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96	4.17	4.17	0.49024	NADH:ubiquinone oxidoreductase, 51kDa subunit (1);	0.054285	0.64402	D	0.000001	D	0.97359	0.9136	H	0.97611	4.04	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.998;0.998	D;D;D;D	0.79108	0.992;0.978;0.978;0.982	D	0.98427	1.0580	10	0.87932	D	0	-18.0985	14.095	0.65016	0.0:0.0:1.0:0.0	.	17;111;109;118	B4DE93;G3V0I5;P49821-2;P49821	.;.;.;NDUV1_HUMAN	H	118;17;17;109;17;111;111;106;79;17	ENSP00000322450:D118H;ENSP00000432015:D17H;ENSP00000435202:D17H;ENSP00000436766:D109H;ENSP00000431751:D17H;ENSP00000395368:D111H;ENSP00000437267:D111H;ENSP00000434438:D106H;ENSP00000436936:D79H;ENSP00000434581:D17H	ENSP00000322450:D118H	D	+	1	0	NDUFV1	67133524	1.000000	0.71417	0.290000	0.24890	0.795000	0.44927	9.494000	0.97962	2.174000	0.68829	0.555000	0.69702	GAC		0.652	NDUFV1-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388406.1	NM_007103		23	100	0	0	0	1	0	23	100				
CCDC28B	79140	broad.mit.edu	37	1	32670262	32670262	+	Intron	SNP	G	G	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:32670262G>C	ENST00000373602.5	+	5	895				CCDC28B_ENST00000421922.2_Missense_Mutation_p.E197Q|IQCC_ENST00000291358.6_5'Flank|CCDC28B_ENST00000483009.1_Intron|RP4-622L5.7_ENST00000373604.4_RNA|RP4-622L5.7_ENST00000421616.1_RNA|IQCC_ENST00000537469.1_5'Flank	NM_024296.3	NP_077272.2	Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B						cilium assembly (GO:0042384)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GTGTGTTCCTGAGAGGTCAGT	0.493																																						ENST00000421922.2																			0				large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(589-591)Gag>Cag		coiled-coil domain containing 28B							138.0	141.0	140.0					1																	32670262		2203	4300	6503	SO:0001627	intron_variant	79140							g.chr1:32670262G>C	BC022848	CCDS354.2, CCDS72749.1	1p36.11-p34.2	2008-02-05			ENSG00000160050	ENSG00000160050			28163	protein-coding gene	gene with protein product		610162				16327777	Standard	XM_006710892		Approved	MGC1203, RP4-622L5.5	uc001bul.1	Q9BUN5	OTTHUMG00000005738	ENST00000373602.5:c.548+41G>C	1.37:g.32670262G>C						CCDC28B_ENST00000373602.5_Intron|CCDC28B_ENST00000483009.1_Intron	p.E197Q			Q9BUN5	CC28B_HUMAN			5	689	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	0					A8K789|Q8TBV8	Missense_Mutation	SNP	ENST00000373602.5	37	c.589G>C	CCDS354.2	.	.	.	.	.	.	.	.	.	.	G	15.58	2.876111	0.51801	.	.	ENSG00000160050	ENST00000421922	T	0.52057	0.68	3.61	0.585	0.17428	.	8.786150	0.00166	N	0.000005	T	0.30230	0.0758	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.09164	-1.0687	6	.	.	.	-14.6997	2.1291	0.03746	0.1153:0.2137:0.4775:0.1935	.	.	.	.	Q	197	ENSP00000413017:E197Q	.	E	+	1	0	CCDC28B	32442849	0.000000	0.05858	0.003000	0.11579	0.322000	0.28314	-1.581000	0.02119	0.130000	0.18549	0.491000	0.48974	GAG		0.493	CCDC28B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015723.4	NM_024296		15	174	0	0	0	1	0	15	174				
RFPL3	10738	broad.mit.edu	37	22	32754310	32754310	+	Silent	SNP	C	C	G			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr22:32754310C>G	ENST00000249007.4	+	1	457	c.252C>G	c.(250-252)gtC>gtG	p.V84V	RFPL3_ENST00000397468.1_Silent_p.V55V|RFPL3_ENST00000382088.3_Silent_p.V55V|RFPL3S_ENST00000461833.1_5'Flank	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	84							zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GTTCCATGGTCTCTCAGAGGA	0.532																																						ENST00000249007.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						c.(250-252)gtC>gtG		ret finger protein-like 3							128.0	119.0	122.0					22																	32754310		2203	4300	6503	SO:0001819	synonymous_variant	10738						zinc ion binding	g.chr22:32754310C>G	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.252C>G	22.37:g.32754310C>G						RFPL3_ENST00000397468.1_Silent_p.V55V|RFPL3_ENST00000382088.3_Silent_p.V55V	p.V84V	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN			1	457	+			84					A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Silent	SNP	ENST00000249007.4	37	c.252C>G	CCDS43011.1																																																																																				0.532	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		12	100	0	0	0	1	0	12	100				
TFEB	7942	broad.mit.edu	37	6	41658473	41658473	+	Silent	SNP	G	G	C	rs373529152	byFrequency	TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr6:41658473G>C	ENST00000230323.4	-	4	697	c.396C>G	c.(394-396)tcC>tcG	p.S132S	TFEB_ENST00000420312.1_Intron|TFEB_ENST00000394283.1_Silent_p.S132S|TFEB_ENST00000373033.1_Silent_p.S132S|TFEB_ENST00000358871.2_Silent_p.S146S|TFEB_ENST00000403298.4_Silent_p.S132S	NM_001271945.1|NM_007162.2	NP_001258874.1|NP_009093.1	P19484	TFEB_HUMAN	transcription factor EB	132				GSPKPPPAASPGVRAGHVLSSSAGNSAPN -> ALRNPHQP PPQGCELDTCCPPPLATVLPI (in Ref. 1; AAA36730). {ECO:0000305}.	autophagy (GO:0006914)|embryonic placenta development (GO:0001892)|humoral immune response (GO:0006959)|lysosome organization (GO:0007040)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			CAGCGGAGGAGGACAGCACGT	0.642			T	ALPHA	renal (childhood epithelioid)								G|||	3	0.000599042	0.0023	0.0	5008	,	,		19005	0.0		0.0	False		,,,				2504	0.0					ENST00000394283.1				Dom	yes		6	6p21	7942	T	transcription factor EB			"""E,M"""	ALPHA		renal (childhood epithelioid)		0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11						c.(394-396)tcC>tcG		transcription factor EB		G	,	2,4404	4.2+/-10.8	0,2,2201	47.0	47.0	47.0		396,396	0.1	1.0	6		47	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TFEB	NM_001167827.1,NM_007162.2	,	0,2,6501	CC,CG,GG		0.0,0.0454,0.0154	,	132/477,132/477	41658473	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7942				embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr6:41658473G>C	M33782	CCDS4858.1, CCDS64424.1, CCDS64425.1	6p21	2013-05-21			ENSG00000112561	ENSG00000112561		"""Basic helix-loop-helix proteins"""	11753	protein-coding gene	gene with protein product		600744				2115126	Standard	NM_007162		Approved	TCFEB, bHLHe35	uc003oqu.2	P19484	OTTHUMG00000014684	ENST00000230323.4:c.396C>G	6.37:g.41658473G>C						TFEB_ENST00000373033.1_Silent_p.S132S|TFEB_ENST00000358871.2_Silent_p.S146S|TFEB_ENST00000403298.4_Silent_p.S132S|TFEB_ENST00000420312.1_Intron|TFEB_ENST00000230323.4_Silent_p.S132S	p.S132S			P19484	TFEB_HUMAN	Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		3	1622	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		132	GSPKPPPAASPGVRAGHVLSSSAGNSAPN -> ALRNPHQP PPQGCELDTCCPPPLATVLPI (in Ref. 1; AAA36730).				Q709B3|Q7Z6P9|Q9BRJ5|Q9UJD8	Silent	SNP	ENST00000230323.4	37	c.396C>G	CCDS4858.1																																																																																				0.642	TFEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040522.3			8	27	0	0	0	1	0	8	27				
OR8I2	120586	broad.mit.edu	37	11	55860975	55860975	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:55860975C>A	ENST00000302124.2	+	1	223	c.192C>A	c.(190-192)agC>agA	p.S64R		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TTTTCCTGAGCAATTTAGCAT	0.393																																						ENST00000302124.2																			0				NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53						c.(190-192)agC>agA		olfactory receptor, family 8, subfamily I, member 2							234.0	224.0	227.0					11																	55860975		2201	4296	6497	SO:0001583	missense	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55860975C>A	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.192C>A	11.37:g.55860975C>A	ENSP00000303864:p.Ser64Arg					OR8I2_ENST00000560768.1_Missense_Mutation_p.S64R	p.S64R			Q8N0Y5	OR8I2_HUMAN			1	223	+	Esophageal squamous(21;0.00693)		64					B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	ENST00000302124.2	37	c.192C>A	CCDS31517.1	.	.	.	.	.	.	.	.	.	.	C	6.688	0.495481	0.12762	.	.	ENSG00000172154	ENST00000302124	T	0.01099	5.34	4.5	3.56	0.40772	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	U	0.000185	T	0.02571	0.0078	L	0.49699	1.58	0.09310	N	1	D	0.56968	0.978	P	0.52267	0.694	T	0.38457	-0.9660	10	0.62326	D	0.03	-13.639	11.3591	0.49633	0.0:0.9093:0.0:0.0906	.	64	Q8N0Y5	OR8I2_HUMAN	R	64	ENSP00000303864:S64R	ENSP00000303864:S64R	S	+	3	2	OR8I2	55617551	0.000000	0.05858	0.711000	0.30485	0.023000	0.10783	-3.398000	0.00484	2.225000	0.72522	0.440000	0.28878	AGC		0.393	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		17	209	1	0	4.7546e-09	1	5.38221e-09	17	209				
LRP2	4036	broad.mit.edu	37	2	170113747	170113747	+	Silent	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:170113747G>A	ENST00000263816.3	-	18	2811	c.2526C>T	c.(2524-2526)ttC>ttT	p.F842F	LRP2_ENST00000443831.1_Silent_p.F705F	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	842					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ACCAATCAGTGAAGAATAGAT	0.418																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(2524-2526)ttC>ttT		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						79.0	75.0	77.0					2																	170113747		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170113747G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.2526C>T	2.37:g.170113747G>A						LRP2_ENST00000443831.1_Silent_p.F705F	p.F842F	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	18	2811	-			842					O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.2526C>T	CCDS2232.1																																																																																				0.418	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		4	56	0	0	0	1	0	4	56				
OR5T2	219464	broad.mit.edu	37	11	56000657	56000657	+	Missense_Mutation	SNP	G	G	C	rs113109292		TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr11:56000657G>C	ENST00000313264.4	-	1	80	c.5C>G	c.(4-6)tCg>tGg	p.S2W		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TATACTGTACGACATATATTC	0.378																																						ENST00000313264.4																			0				endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41						c.(4-6)tCg>tGg		olfactory receptor, family 5, subfamily T, member 2							127.0	123.0	124.0					11																	56000657		2197	4291	6488	SO:0001583	missense	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56000657G>C	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.5C>G	11.37:g.56000657G>C	ENSP00000323688:p.Ser2Trp						p.S2W	NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN			1	80	-	Esophageal squamous(21;0.00448)		2					B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	c.5C>G	CCDS31523.1	.	.	.	.	.	.	.	.	.	.	G	7.301	0.613098	0.14066	.	.	ENSG00000181718	ENST00000313264	T	0.00695	5.83	2.57	-5.13	0.02884	.	.	.	.	.	T	0.00356	0.0011	N	0.08118	0	0.09310	N	1	P	0.43231	0.801	B	0.27170	0.077	T	0.48906	-0.8993	9	0.87932	D	0	.	3.9503	0.09366	0.2193:0.0:0.4332:0.3475	.	2	Q8NGG2	OR5T2_HUMAN	W	2	ENSP00000323688:S2W	ENSP00000323688:S2W	S	-	2	0	OR5T2	55757233	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.520000	0.02241	-1.801000	0.01245	-0.673000	0.03796	TCG		0.378	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		5	123	0	0	0	1	0	5	123				
C9orf84	158401	broad.mit.edu	37	9	114454526	114454526	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr9:114454526G>A	ENST00000318737.4	-	25	3667	c.3539C>T	c.(3538-3540)cCa>cTa	p.P1180L	C9orf84_ENST00000394779.3_Missense_Mutation_p.P1141L|C9orf84_ENST00000374287.3_Missense_Mutation_p.P1180L|C9orf84_ENST00000394777.4_Missense_Mutation_p.P1106L	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1180										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGTCACAGGTGGTAAAAAACT	0.363																																						ENST00000394779.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(3421-3423)cCa>cTa		chromosome 9 open reading frame 84							97.0	99.0	98.0					9																	114454526		2203	4300	6503	SO:0001583	missense	158401							g.chr9:114454526G>A	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.3539C>T	9.37:g.114454526G>A	ENSP00000322108:p.Pro1180Leu					C9orf84_ENST00000318737.4_Missense_Mutation_p.P1180L|C9orf84_ENST00000394777.4_Missense_Mutation_p.P1106L|C9orf84_ENST00000374287.3_Missense_Mutation_p.P1180L	p.P1141L	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN			23	3666	-			1180					A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	c.3422C>T	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	G	14.14	2.445763	0.43429	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.06933	3.24;3.29;3.25;3.25	5.35	4.44	0.53790	.	0.140601	0.33144	N	0.005227	T	0.11580	0.0282	L	0.32530	0.975	0.09310	N	0.999997	D;D;D	0.57257	0.979;0.979;0.979	P;P;P	0.51615	0.675;0.675;0.675	T	0.05194	-1.0900	10	0.87932	D	0	-5.236	10.9358	0.47245	0.0888:0.0:0.9112:0.0	.	1106;1180;1141	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	L	1141;1106;794;1180;1180	ENSP00000378259:P1141L;ENSP00000378257:P1106L;ENSP00000363405:P1180L;ENSP00000322108:P1180L	ENSP00000322108:P1180L	P	-	2	0	C9orf84	113494347	0.479000	0.25925	0.166000	0.22797	0.285000	0.27093	2.773000	0.47686	2.655000	0.90218	0.563000	0.77884	CCA		0.363	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		12	85	0	0	0	1	0	12	85				
TTC7A	57217	broad.mit.edu	37	2	47287910	47287910	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:47287910G>A	ENST00000319190.5	+	19	2523	c.2155G>A	c.(2155-2157)Gag>Aag	p.E719K	TTC7A_ENST00000409245.1_Missense_Mutation_p.E685K|TTC7A_ENST00000394850.2_Missense_Mutation_p.E743K|TTC7A_ENST00000263737.6_Missense_Mutation_p.E365K	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	719					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TTTTGCAGCTGAGCTGTTCAT	0.587																																						ENST00000319190.5																			0				breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(2155-2157)Gag>Aag		tetratricopeptide repeat domain 7A							80.0	70.0	74.0					2																	47287910		2203	4300	6503	SO:0001583	missense	57217						binding	g.chr2:47287910G>A	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"""Tetratricopeptide (TTC) repeat domain containing"""	19750	protein-coding gene	gene with protein product		609332	"""tetratricopeptide repeat domain 7"""	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.2155G>A	2.37:g.47287910G>A	ENSP00000316699:p.Glu719Lys					TTC7A_ENST00000394850.2_Missense_Mutation_p.E743K|TTC7A_ENST00000263737.6_Missense_Mutation_p.E365K|TTC7A_ENST00000409245.1_Missense_Mutation_p.E685K	p.E719K	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		19	2523	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	719					Q6PIX4|Q8ND67|Q9BUS3	Missense_Mutation	SNP	ENST00000319190.5	37	c.2155G>A	CCDS33193.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118221	0.77323	.	.	ENSG00000068724	ENST00000409245;ENST00000319190;ENST00000394850;ENST00000263737;ENST00000434093	T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77	5.77	4.89	0.63831	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.177708	0.47852	D	0.000218	T	0.69405	0.3107	L	0.41492	1.28	0.80722	D	1	B;B;B;B	0.29481	0.058;0.159;0.035;0.245	B;B;B;B	0.36335	0.028;0.111;0.013;0.222	T	0.66376	-0.5939	10	0.34782	T	0.22	-28.6959	14.8263	0.70117	0.0705:0.0:0.9295:0.0	.	743;685;719;685	Q2T9J9;B3KPK7;Q9ULT0;G5E9G4	.;.;TTC7A_HUMAN;.	K	685;719;743;365;546	ENSP00000386307:E685K;ENSP00000316699:E719K;ENSP00000378320:E743K;ENSP00000263737:E365K	ENSP00000263737:E365K	E	+	1	0	TTC7A	47141414	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.952000	0.87827	2.741000	0.93983	0.650000	0.86243	GAG		0.587	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		6	89	0	0	0	1	0	6	89				
ZFYVE9	9372	broad.mit.edu	37	1	52703972	52703972	+	Missense_Mutation	SNP	G	G	T	rs372805248		TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:52703972G>T	ENST00000371591.1	+	3	1014	c.883G>T	c.(883-885)Ggc>Tgc	p.G295C	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.G295C|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.G295C	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	295					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GGACCTCACTGGCAAAATCAG	0.443																																						ENST00000287727.3																			0				breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						c.(883-885)Ggc>Tgc		zinc finger, FYVE domain containing 9							90.0	98.0	95.0					1																	52703972		2203	4300	6503	SO:0001583	missense	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52703972G>T	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.883G>T	1.37:g.52703972G>T	ENSP00000360647:p.Gly295Cys					ZFYVE9_ENST00000361625.1_Missense_Mutation_p.G295C|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.G295C|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.G295C	p.G295C	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN			4	1055	+			295					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	c.883G>T	CCDS563.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728201	0.30593	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	4.75	3.82	0.43975	.	0.576612	0.16431	N	0.214708	T	0.45696	0.1355	N	0.19112	0.55	0.09310	N	1	D;P;D	0.69078	0.969;0.948;0.997	P;P;D	0.63192	0.708;0.514;0.912	T	0.23583	-1.0184	10	0.72032	D	0.01	.	4.8255	0.13414	0.1373:0.2198:0.6429:0.0	.	295;295;295	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	C	295	ENSP00000349737:G295C;ENSP00000355358:G295C;ENSP00000287727:G295C;ENSP00000360647:G295C	ENSP00000287727:G295C	G	+	1	0	ZFYVE9	52476560	0.970000	0.33590	0.585000	0.28666	0.974000	0.67602	2.523000	0.45580	1.203000	0.43233	0.563000	0.77884	GGC		0.443	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		17	118	1	0	9.16793e-09	1	1.03367e-08	17	118				
CNNM3	26505	broad.mit.edu	37	2	97490833	97490833	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:97490833G>A	ENST00000305510.3	+	2	1292	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K	ANKRD23_ENST00000476975.1_Intron|CNNM3_ENST00000377060.3_Intron	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 3	422	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						GGTGAACAACGAGGGTGAAGG	0.602																																						ENST00000305510.3																			0				NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						c.(1264-1266)Gag>Aag		cyclin M3							85.0	65.0	72.0					2																	97490833		2203	4300	6503	SO:0001583	missense	26505				ion transport	integral to membrane|plasma membrane	protein binding	g.chr2:97490833G>A	AF216965	CCDS2025.1, CCDS2026.1	2q11.2	2014-08-08	2014-08-07		ENSG00000168763	ENSG00000168763			104	protein-coding gene	gene with protein product		607804	"""cyclin M3"""	ACDP3		21393841, 24632616	Standard	XM_005263917		Approved		uc002swy.3	Q8NE01	OTTHUMG00000130531	ENST00000305510.3:c.1264G>A	2.37:g.97490833G>A	ENSP00000305449:p.Glu422Lys					ANKRD23_ENST00000476975.1_Intron|CNNM3_ENST00000377060.3_Intron	p.E422K	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN			2	1292	+			422			CBS 2.		B3KX67|Q8TBV4|Q96IW4|Q9NRK4|Q9NXW6	Missense_Mutation	SNP	ENST00000305510.3	37	c.1264G>A	CCDS2025.1	.	.	.	.	.	.	.	.	.	.	G	36	5.725426	0.96847	.	.	ENSG00000168763	ENST00000305510	T	0.76060	-0.99	5.56	5.56	0.83823	Cystathionine beta-synthase, core (1);	0.000000	0.85682	D	0.000000	T	0.79947	0.4534	L	0.58428	1.81	0.80722	D	1	D	0.55605	0.972	P	0.52159	0.691	T	0.80661	-0.1283	10	0.52906	T	0.07	-28.0107	18.3066	0.90184	0.0:0.0:1.0:0.0	.	422	Q8NE01	CNNM3_HUMAN	K	422	ENSP00000305449:E422K	ENSP00000305449:E422K	E	+	1	0	CNNM3	96854560	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.420000	0.97426	2.640000	0.89533	0.655000	0.94253	GAG		0.602	CNNM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252952.2	NM_017623		3	32	0	0	0	1	0	3	32				
TP53	7157	broad.mit.edu	37	17	7578500	7578500	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr17:7578500G>A	ENST00000269305.4	-	5	619	c.430C>T	c.(430-432)Cag>Tag	p.Q144*	TP53_ENST00000445888.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q144*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q144*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	144	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q144*(36)|p.0?(8)|p.Q144fs*25(3)|p.Q144K(2)|p.Q12*(2)|p.Q144fs*26(2)|p.Q51*(2)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q51fs*25(1)|p.Q144del(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.P142_Q144delPVQ(1)|p.Q144fs*4(1)|p.Q12fs*25(1)|p.V143_S149del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACCCACAGCTGCACAGGGCAG	0.597		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		65	Substitution - Nonsense(40)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(5)|Substitution - Missense(2)	p.Q144*(36)|p.0?(8)|p.Q144fs*25(3)|p.Q144K(2)|p.Q12*(2)|p.Q144fs*26(2)|p.Q51*(2)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q51fs*25(1)|p.Q144del(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.P142_Q144delPVQ(1)|p.Q144fs*4(1)|p.Q12fs*25(1)|p.V143_S149del(1)	lung(11)|upper_aerodigestive_tract(10)|oesophagus(8)|breast(8)|endometrium(6)|ovary(5)|bone(4)|large_intestine(3)|stomach(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|soft_tissue(1)|liver(1)|skin(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(430-432)Cag>Tag	Other conserved DNA damage response genes	tumor protein p53							57.0	56.0	57.0					17																	7578500		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578500G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.430C>T	17.37:g.7578500G>A	ENSP00000269305:p.Gln144*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q144*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q144*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q144*	p.Q144*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	562	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	144		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.430C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.071217	0.55646	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	.	.	.	5.48	5.48	0.80851	.	0.121732	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-30.9139	17.2272	0.86973	0.0:0.0:1.0:0.0	.	.	.	.	X	144;144;144;144;144;144;133;51;12;51;12;144	.	ENSP00000269305:Q144X	Q	-	1	0	TP53	7519225	1.000000	0.71417	0.908000	0.35775	0.017000	0.09413	7.953000	0.87836	2.733000	0.93635	0.655000	0.94253	CAG		0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		14	47	0	0	0	1	0	14	47				
KIAA1551	55196	broad.mit.edu	37	12	32137391	32137391	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr12:32137391G>C	ENST00000312561.4	+	4	3916	c.3502G>C	c.(3502-3504)Gat>Cat	p.D1168H	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1168																	CTCTGAGAAAGATGATATCCA	0.483																																						ENST00000312561.4																			0											c.(3502-3504)Gat>Cat		KIAA1551							149.0	146.0	147.0					12																	32137391		2203	4300	6503	SO:0001583	missense	55196							g.chr12:32137391G>C	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.3502G>C	12.37:g.32137391G>C	ENSP00000310338:p.Asp1168His					KIAA1551_ENST00000535596.1_Intron	p.D1168H	NM_018169.3	NP_060639.3					4	3916	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.3502G>C	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	G	19.21	3.782941	0.70222	.	.	ENSG00000174718	ENST00000312561	T	0.15718	2.4	5.47	5.47	0.80525	.	0.106307	0.42294	D	0.000730	T	0.40522	0.1120	M	0.64997	1.995	0.36512	D	0.869642	D	0.89917	1.0	D	0.83275	0.996	T	0.35968	-0.9767	9	.	.	.	.	17.1247	0.86711	0.0:0.0:1.0:0.0	.	1168	Q9HCM1	CL035_HUMAN	H	1168	ENSP00000310338:D1168H	.	D	+	1	0	C12orf35	32028658	0.910000	0.30920	0.135000	0.22099	0.066000	0.16364	3.682000	0.54656	2.558000	0.86282	0.563000	0.77884	GAT		0.483	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		9	101	0	0	0	1	0	9	101				
CYBB	1536	broad.mit.edu	37	X	37660572	37660572	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chrX:37660572C>T	ENST00000378588.4	+	8	935	c.868C>T	c.(868-870)Cga>Tga	p.R290*	CYBB_ENST00000536160.1_Nonsense_Mutation_p.R23*|CYBB_ENST00000492288.1_3'UTR|CYBB_ENST00000545017.1_Nonsense_Mutation_p.R258*|TM4SF2_ENST00000465127.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	290	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	GCGGTTTTGGCGATCTCAACA	0.413																																						ENST00000378588.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32	GRCh37	CM960447	CYBB	M		c.(868-870)Cga>Tga		cytochrome b-245, beta polypeptide							350.0	301.0	317.0					X																	37660572		2202	4300	6502	SO:0001587	stop_gained	1536				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	g.chrX:37660572C>T	X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"""Cytochrome b genes"""	2578	protein-coding gene	gene with protein product		300481	"""chronic granulomatous disease"""	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.868C>T	X.37:g.37660572C>T	ENSP00000367851:p.Arg290*					CYBB_ENST00000536160.1_Nonsense_Mutation_p.R23*|CYBB_ENST00000492288.1_3'UTR|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000545017.1_Nonsense_Mutation_p.R258*	p.R290*	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN			8	935	+			290			FAD-binding FR-type.		A8K138|Q2PP16	Nonsense_Mutation	SNP	ENST00000378588.4	37	c.868C>T	CCDS14242.1	.	.	.	.	.	.	.	.	.	.	C	40	8.411465	0.98799	.	.	ENSG00000165168	ENST00000378588;ENST00000545017;ENST00000536160	.	.	.	5.91	2.85	0.33270	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1821	0.72968	0.472:0.528:0.0:0.0	.	.	.	.	X	290;258;23	.	ENSP00000367851:R290X	R	+	1	2	CYBB	37545512	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	0.530000	0.23036	0.609000	0.30018	0.594000	0.82650	CGA		0.413	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1			6	259	0	0	0	1	0	6	259				
IRAK3	11213	broad.mit.edu	37	12	66603261	66603261	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr12:66603261G>C	ENST00000261233.4	+	3	763	c.342G>C	c.(340-342)aaG>aaC	p.K114N	IRAK3_ENST00000457197.2_Missense_Mutation_p.K53N	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		CTTCAGAGAAGAGTTATCAGG	0.348																																						ENST00000261233.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36						c.(340-342)aaG>aaC		interleukin-1 receptor-associated kinase 3							113.0	120.0	117.0					12																	66603261		2203	4300	6503	SO:0001583	missense	11213				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66603261G>C	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.342G>C	12.37:g.66603261G>C	ENSP00000261233:p.Lys114Asn					IRAK3_ENST00000457197.2_Missense_Mutation_p.K53N	p.K114N	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	3	763	+			114						Missense_Mutation	SNP	ENST00000261233.4	37	c.342G>C	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	G	7.792	0.711697	0.15306	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.72942	-0.65;-0.7	5.23	1.1	0.20463	DEATH-like (1);	0.626027	0.16068	N	0.231150	T	0.41789	0.1174	N	0.08118	0	0.09310	N	1	B;B	0.34015	0.435;0.097	B;B	0.27500	0.08;0.023	T	0.22487	-1.0215	9	.	.	.	2.9671	6.8397	0.23955	0.4242:0.0:0.5758:0.0	.	53;114	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	N	114;53	ENSP00000261233:K114N;ENSP00000409852:K53N	.	K	+	3	2	IRAK3	64889528	0.004000	0.15560	0.001000	0.08648	0.002000	0.02628	0.388000	0.20735	0.020000	0.15106	-0.302000	0.09304	AAG		0.348	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			5	89	0	0	0	1	0	5	89				
SEC22B	9554	broad.mit.edu	37	1	145109312	145109313	+	RNA	INS	-	-	A	rs9424678|rs11370361|rs142440425		TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr1:145109312_145109313insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											aaaccaaaaacaaaAAAAAAAG	0.416																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)																																						9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109312_145109313insA	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109322_145109322dupA										O75396	SC22B_HUMAN			0	512	+								A8K1G0	RNA	INS	ENST00000453618.1	37																																																																																						0.416	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		2	4						2	4	---	---	---	---
KLF11	8462	broad.mit.edu	37	2	10188608	10188609	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:10188608_10188609delTG	ENST00000305883.1	+	3	1306_1307	c.1144_1145delTG	c.(1144-1146)tgtfs	p.C382fs	KLF11_ENST00000540845.1_Frame_Shift_Del_p.C365fs|KLF11_ENST00000535335.1_Frame_Shift_Del_p.C365fs	NM_003597.4	NP_003588.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	382					apoptotic process (GO:0006915)|cellular response to peptide (GO:1901653)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		TAGCCAAAACTGTGTCCCTCAG	0.55											OREG0014425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(56;431 1507 23687 50789)	ENST00000535335.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1093-1095)tfs		Kruppel-like factor 11																																				SO:0001589	frameshift_variant	8462				apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr2:10188608_10188609delTG	AF028008	CCDS1668.1, CCDS54333.1	2p25	2013-01-08	2004-11-29	2004-12-01	ENSG00000172059	ENSG00000172059		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11811	protein-coding gene	gene with protein product		603301	"""TGFB inducible early growth response 2"""	TIEG2		9748269, 11087666	Standard	NM_001177716		Approved	Tieg3, MODY7	uc002raf.1	O14901	OTTHUMG00000119004	ENST00000305883.1:c.1144_1145delTG	2.37:g.10188610_10188611delTG	ENSP00000307023:p.Cys382fs		OREG0014425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	662	KLF11_ENST00000540845.1_Frame_Shift_Del_p.C365fs|KLF11_ENST00000305883.1_Frame_Shift_Del_p.C382fs	p.C365fs	NM_001177718.1	NP_001171189.1	O14901	KLF11_HUMAN		Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)	3	1309_1310	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		382					B4DZE7|Q9EPF4	Frame_Shift_Del	DEL	ENST00000305883.1	37	c.1093_1094delTG	CCDS1668.1																																																																																				0.550	KLF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000239202.3	NM_003597		11	118						11	118	---	---	---	---
ANKRD36BP2	645784	broad.mit.edu	37	2	89102192	89102194	+	RNA	DEL	AAG	AAG	-	rs370497487		TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr2:89102192_89102194delAAG	ENST00000393525.3	+	0	2666_2668									ankyrin repeat domain 36B pseudogene 2																		GTTTAATAATAAGGTGATTTGTA	0.33																																						ENST00000393525.3																			0																																																			645784							g.chr2:89102192_89102194delAAG			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89102192_89102194delAAG														0	2666_2668	+									RNA	DEL	ENST00000393525.3	37																																																																																						0.330	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			3	6						3	6	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149526674	149526675	+	RNA	DEL	CT	CT	-	rs148608951	byFrequency	TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr7:149526674_149526675delCT	ENST00000378016.2	+	0	15142							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ccacagtcccctcagtcccctc	0.653														223	0.0445288	0.1483	0.0159	5008	,	,		9753	0.0		0.005	False		,,,				2504	0.0112					ENST00000378016.2																			0													SCO-spondin																																						23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149526674_149526675delCT	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149526674_149526675delCT										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	15142	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	DEL	ENST00000378016.2	37																																																																																						0.653	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				5	3						5	3	---	---	---	---
CEACAM5	1048	broad.mit.edu	37	19	42221545	42221560	+	Frame_Shift_Del	DEL	CCCTCACTCTACTCAG	CCCTCACTCTACTCAG	-	rs199819373|rs145041033|rs149110921		TCGA-QK-A6VC-01A-23D-A34J-08	TCGA-QK-A6VC-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01413c18-357f-4712-8f1a-27703425b1c9	a98f75ad-eb15-4f88-b3e3-e7427c58bec3	g.chr19:42221545_42221560delCCCTCACTCTACTCAG	ENST00000221992.6	+	5	1244_1259	c.1130_1145delCCCTCACTCTACTCAG	c.(1129-1146)accctcactctactcagtfs	p.TLTLLS377fs	CEACAM5_ENST00000398599.4_Frame_Shift_Del_p.TLTLLS376fs|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Frame_Shift_Del_p.TLTLLS377fs	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	377	Ig-like 4.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GACAACAGGACCCTCACTCTACTCAGTGTCACAAGG	0.491																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(1129-1146)atfs		carcinoembryonic antigen-related cell adhesion molecule 5																																				SO:0001589	frameshift_variant	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42221545_42221560delCCCTCACTCTACTCAG	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1130_1145delCCCTCACTCTACTCAG	19.37:g.42221545_42221560delCCCTCACTCTACTCAG	ENSP00000221992:p.Thr377fs					CEACAM5_ENST00000398599.4_Frame_Shift_Del_p.TLTLLS376fs|CEACAM5_ENST00000405816.1_Frame_Shift_Del_p.TLTLLS377fs|CEA_ENST00000598976.1_Intron	p.TLTLLS377fs	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	5	1244_1259	+			377			Ig-like 4.		H9KVA7	Frame_Shift_Del	DEL	ENST00000221992.6	37	c.1130_1145delCCCTCACTCTACTCAG	CCDS12584.1																																																																																				0.491	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		9	265						9	265	---	---	---	---
