#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
NCLN	56926	broad.mit.edu	37	19	3198880	3198880	+	Silent	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr19:3198880C>T	ENST00000246117.4	+	5	1112	c.681C>T	c.(679-681)gcC>gcT	p.A227A	NCLN_ENST00000590671.1_Silent_p.A153A	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	227					regulation of signal transduction (GO:0009966)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTACGACGCCTTTGGAGTGG	0.647																																						ENST00000246117.4																			0				kidney(1)|lung(3)|skin(1)	5						c.(679-681)gcC>gcT		nicalin							101.0	78.0	86.0					19																	3198880		2203	4300	6503	SO:0001819	synonymous_variant	56926				proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding	g.chr19:3198880C>T	BC025926	CCDS32869.1	19p13.3	2010-08-13	2010-08-13			ENSG00000125912			26923	protein-coding gene	gene with protein product	"""nicastrin-like protein"""	609156	"""nicalin homolog (zebrafish)"""			11230166	Standard	NM_020170		Approved	NICALIN, NET59	uc002lxi.3	Q969V3		ENST00000246117.4:c.681C>T	19.37:g.3198880C>T						NCLN_ENST00000590671.1_Silent_p.A153A	p.A227A	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1112	+		Hepatocellular(1079;0.137)	227					D6W613|O75252|Q6FI60|Q6ZMB7|Q8TAT7|Q96H48|Q96IS7|Q9BQH9|Q9BTX4|Q9NPP2	Silent	SNP	ENST00000246117.4	37	c.681C>T	CCDS32869.1																																																																																				0.647	NCLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452545.1	NM_020170		7	70	0	0	0	1	0	7	70				
OR2AG2	338755	broad.mit.edu	37	11	6790060	6790060	+	Silent	SNP	A	A	G			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:6790060A>G	ENST00000338569.2	-	1	226	c.129T>C	c.(127-129)ggT>ggC	p.G43G		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGAGCAGCAGACCATTGCTGG	0.527																																						ENST00000338569.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28						c.(127-129)ggT>ggC		olfactory receptor, family 2, subfamily AG, member 2							140.0	127.0	132.0					11																	6790060		2201	4296	6497	SO:0001819	synonymous_variant	338755				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6790060A>G	AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124		"""GPCR / Class A : Olfactory receptors"""	15143	protein-coding gene	gene with protein product				OR2AG2P			Standard	NM_001004490		Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.129T>C	11.37:g.6790060A>G							p.G43G	NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	226	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	43						Silent	SNP	ENST00000338569.2	37	c.129T>C	CCDS31413.1																																																																																				0.527	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386775.1	NM_001004490		5	97	0	0	0	1	0	5	97				
CDH11	1009	broad.mit.edu	37	16	65005520	65005520	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr16:65005520A>T	ENST00000268603.4	-	11	2219	c.1604T>A	c.(1603-1605)aTc>aAc	p.I535N	CDH11_ENST00000566827.1_Missense_Mutation_p.I409N|CDH11_ENST00000394156.3_Missense_Mutation_p.I535N	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	535	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		ATTGTGAATGATTTCAGGGGG	0.428			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000394156.3				Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(1603-1605)aTc>aAc		cadherin 11, type 2, OB-cadherin (osteoblast)							128.0	120.0	123.0					16																	65005520		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65005520A>T	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1604T>A	16.37:g.65005520A>T	ENSP00000268603:p.Ile535Asn	TSP Lung(24;0.17)				CDH11_ENST00000566827.1_Missense_Mutation_p.I409N|CDH11_ENST00000268603.4_Missense_Mutation_p.I535N	p.I535N			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	11	2057	-		Ovarian(137;0.0973)	535			Cadherin 5.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.1604T>A	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	A	15.51	2.856130	0.51376	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.54675	2.05;0.56	5.88	5.88	0.94601	Cadherin (3);Cadherin-like (1);	0.051253	0.85682	D	0.000000	T	0.37517	0.1006	N	0.20530	0.585	0.58432	D	0.999998	P;B	0.37276	0.589;0.046	B;B	0.33339	0.162;0.028	T	0.24368	-1.0162	10	0.31617	T	0.26	.	15.4635	0.75381	1.0:0.0:0.0:0.0	.	535;535	P55287-2;P55287	.;CAD11_HUMAN	N	535;535;518	ENSP00000268603:I535N;ENSP00000377711:I535N	ENSP00000268603:I535N	I	-	2	0	CDH11	63563021	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.295000	0.51794	2.250000	0.74265	0.533000	0.62120	ATC		0.428	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		8	43	0	0	0	1	0	8	43				
BHLHB9	80823	broad.mit.edu	37	X	102004842	102004842	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chrX:102004842A>G	ENST00000372735.1	+	4	1504	c.919A>G	c.(919-921)Att>Gtt	p.I307V	BHLHB9_ENST00000457056.1_Missense_Mutation_p.I307V|BHLHB9_ENST00000448867.1_Missense_Mutation_p.I307V|BHLHB9_ENST00000361229.4_Missense_Mutation_p.I307V|BHLHB9_ENST00000447531.1_Missense_Mutation_p.I307V			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	307					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGTAAATGGGATTAAGCCATT	0.408																																						ENST00000372735.1																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(919-921)Att>Gtt		basic helix-loop-helix domain containing, class B, 9							97.0	88.0	91.0					X																	102004842		2203	4300	6503	SO:0001583	missense	80823					cytoplasm|nucleus	binding	g.chrX:102004842A>G	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.919A>G	X.37:g.102004842A>G	ENSP00000361820:p.Ile307Val					BHLHB9_ENST00000457056.1_Missense_Mutation_p.I307V|BHLHB9_ENST00000448867.1_Missense_Mutation_p.I307V|BHLHB9_ENST00000361229.4_Missense_Mutation_p.I307V|BHLHB9_ENST00000447531.1_Missense_Mutation_p.I307V	p.I307V			Q6PI77	BHLH9_HUMAN			4	1504	+			307					Q9C0G2	Missense_Mutation	SNP	ENST00000372735.1	37	c.919A>G	CCDS14502.1	.	.	.	.	.	.	.	.	.	.	A	9.226	1.034710	0.19590	.	.	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.11063	2.81;2.81;2.81;2.81;2.81	4.69	4.69	0.59074	.	0.141721	0.32868	N	0.005560	T	0.08670	0.0215	L	0.36672	1.1	0.25279	N	0.989459	P	0.37955	0.612	B	0.35607	0.206	T	0.24941	-1.0146	9	.	.	.	-0.0094	9.4076	0.38471	1.0:0.0:0.0:0.0	.	307	Q6PI77	BHLH9_HUMAN	V	307	ENSP00000403226:I307V;ENSP00000354675:I307V;ENSP00000405893:I307V;ENSP00000391722:I307V;ENSP00000361820:I307V	.	I	+	1	0	BHLHB9	101891498	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	3.448000	0.52943	2.044000	0.60594	0.486000	0.48141	ATT		0.408	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		14	27	0	0	0	1	0	14	27				
OR2J2	26707	broad.mit.edu	37	6	29141532	29141532	+	Silent	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr6:29141532G>A	ENST00000377167.2	+	1	222	c.120G>A	c.(118-120)ctG>ctA	p.L40L		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TGATGACACTGACAGGAAACC	0.423																																						ENST00000377167.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						c.(118-120)ctG>ctA		olfactory receptor, family 2, subfamily J, member 2							163.0	156.0	158.0					6																	29141532		2000	4200	6200	SO:0001819	synonymous_variant	26707				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29141532G>A		CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"""GPCR / Class A : Olfactory receptors"""	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.120G>A	6.37:g.29141532G>A							p.L40L	NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN			1	222	+			40					A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Silent	SNP	ENST00000377167.2	37	c.120G>A	CCDS43434.1																																																																																				0.423	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			29	144	0	0	0	1	0	29	144				
NEB	4703	broad.mit.edu	37	2	152425879	152425879	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr2:152425879T>C	ENST00000172853.10	-	82	12482	c.12335A>G	c.(12334-12336)tAc>tGc	p.Y4112C	NEB_ENST00000604864.1_Missense_Mutation_p.Y5813C|NEB_ENST00000603639.1_Missense_Mutation_p.Y5813C|NEB_ENST00000409198.1_Missense_Mutation_p.Y4112C|NEB_ENST00000427231.2_Missense_Mutation_p.Y5813C|NEB_ENST00000397345.3_Missense_Mutation_p.Y5813C			P20929	NEBU_HUMAN	nebulin	4112					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTCAGCCTTGTAAACATTCTG	0.463																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(17437-17439)tAc>tGc		nebulin							92.0	92.0	92.0					2																	152425879		2007	4172	6179	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152425879T>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.12335A>G	2.37:g.152425879T>C	ENSP00000172853:p.Tyr4112Cys					NEB_ENST00000409198.1_Missense_Mutation_p.Y4112C|NEB_ENST00000604864.1_Missense_Mutation_p.Y5813C|NEB_ENST00000427231.2_Missense_Mutation_p.Y5813C|NEB_ENST00000172853.10_Missense_Mutation_p.Y4112C|NEB_ENST00000603639.1_Missense_Mutation_p.Y5813C	p.Y5813C	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	110	17640	-			5832					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.17438A>G		.	.	.	.	.	.	.	.	.	.	T	24.4	4.527479	0.85706	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	D;D;D;D;D	0.99958	-9.03;-9.03;-9.03;-9.03;-9.03	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	D	0.99959	0.9983	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95693	0.8742	10	0.87932	D	0	.	16.1237	0.81377	0.0:0.0:0.0:1.0	.	4112;543	P20929;Q14215	NEBU_HUMAN;.	C	4112;5813;5813;161;543;4112	ENSP00000386259:Y4112C;ENSP00000380505:Y5813C;ENSP00000416578:Y5813C;ENSP00000410961:Y543C;ENSP00000172853:Y4112C	ENSP00000172853:Y4112C	Y	-	2	0	NEB	152134125	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.802000	0.85969	2.289000	0.77006	0.533000	0.62120	TAC		0.463	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		10	54	0	0	0	1	0	10	54				
OR10AG1	282770	broad.mit.edu	37	11	55735878	55735878	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:55735878A>G	ENST00000312345.2	-	1	112	c.62T>C	c.(61-63)aTa>aCa	p.I21T		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AAGTAAAAATATACTAAAAAG	0.328																																						ENST00000312345.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(61-63)aTa>aCa		olfactory receptor, family 10, subfamily AG, member 1							36.0	41.0	40.0					11																	55735878		2194	4285	6479	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735878A>G	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.62T>C	11.37:g.55735878A>G	ENSP00000311477:p.Ile21Thr						p.I21T	NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN			1	112	-	Esophageal squamous(21;0.0137)		21					B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.62T>C	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	A	7.935	0.741586	0.15642	.	.	ENSG00000174970	ENST00000312345	T	0.03181	4.02	5.27	5.27	0.74061	.	0.534946	0.15824	N	0.242832	T	0.05640	0.0148	L	0.45470	1.425	0.09310	N	1	B	0.16396	0.017	B	0.18561	0.022	T	0.20371	-1.0277	10	0.48119	T	0.1	.	13.2735	0.60175	1.0:0.0:0.0:0.0	.	21	Q8NH19	O10AG_HUMAN	T	21	ENSP00000311477:I21T	ENSP00000311477:I21T	I	-	2	0	OR10AG1	55492454	0.000000	0.05858	0.008000	0.14137	0.342000	0.28953	-0.007000	0.12810	2.026000	0.59711	0.325000	0.21440	ATA		0.328	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		10	51	0	0	0	1	0	10	51				
TMPRSS13	84000	broad.mit.edu	37	11	117784600	117784600	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:117784600G>A	ENST00000430170.2	-	5	788	c.701C>T	c.(700-702)tCt>tTt	p.S234F	TMPRSS13_ENST00000524993.1_Missense_Mutation_p.S234F|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.S234F|TMPRSS13_ENST00000528626.1_Missense_Mutation_p.S199F|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.S234F	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	234	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		TTTAAGCAGAGACTTGTCCCA	0.537																																						ENST00000528626.1																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20						c.(595-597)tCt>tTt		transmembrane protease, serine 13							69.0	72.0	71.0					11																	117784600		1957	4142	6099	SO:0001583	missense	84000				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:117784600G>A	AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"""Serine peptidases / Transmembrane"""	29808	protein-coding gene	gene with protein product		610050	"""transmembrane protease, serine 11"""	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.701C>T	11.37:g.117784600G>A	ENSP00000387702:p.Ser234Phe					TMPRSS13_ENST00000524993.1_Missense_Mutation_p.S234F|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.S234F|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.S234F|TMPRSS13_ENST00000430170.2_Missense_Mutation_p.S234F	p.S199F	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)	4	669	-	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	229			LDL-receptor class A.|SRCR.		B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Missense_Mutation	SNP	ENST00000430170.2	37	c.596C>T	CCDS58185.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.057416	0.55325	.	.	ENSG00000137747	ENST00000528626;ENST00000336500;ENST00000524993;ENST00000430170;ENST00000445164;ENST00000526090	T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000007	T	0.69548	0.3123	L	0.53729	1.69	0.38757	D	0.954248	P;D	0.76494	0.936;0.999	P;D	0.72075	0.609;0.976	T	0.68341	-0.5434	10	0.34782	T	0.22	.	13.1905	0.59709	0.0731:0.0:0.9269:0.0	.	229;234	Q9BYE2-4;E9PRA0	.;.	F	199;229;234;234;234;234	ENSP00000435813:S199F;ENSP00000434279:S234F;ENSP00000387702:S234F;ENSP00000394114:S234F;ENSP00000436502:S234F	ENSP00000337113:S229F	S	-	2	0	TMPRSS13	117289810	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.102000	0.57776	2.815000	0.96918	0.561000	0.74099	TCT		0.537	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046		8	77	0	0	0	1	0	8	77				
HMGCS1	3157	broad.mit.edu	37	5	43299025	43299025	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr5:43299025T>C	ENST00000325110.6	-	3	249	c.43A>G	c.(43-45)Aaa>Gaa	p.K15E	HMGCS1_ENST00000433297.2_Missense_Mutation_p.K15E	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	15					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|lipid metabolic process (GO:0006629)|liver development (GO:0001889)|male gonad development (GO:0008584)|response to acid chemical (GO:0001101)|response to drug (GO:0042493)|response to lipoprotein particle (GO:0055094)|response to low light intensity stimulus (GO:0009645)|response to purine-containing compound (GO:0014074)|response to tellurium ion (GO:0046690)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hydroxymethylglutaryl-CoA synthase activity (GO:0004421)|isomerase activity (GO:0016853)|organic acid binding (GO:0043177)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						CCCACATCTTTTGGCCAGCAA	0.378																																						ENST00000325110.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						c.(43-45)Aaa>Gaa		3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)							71.0	70.0	71.0					5																	43299025		2203	4300	6503	SO:0001583	missense	3157				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity	g.chr5:43299025T>C		CCDS34154.1	5p14-p13	2012-10-02	2010-04-30			ENSG00000112972	2.3.3.10		5007	protein-coding gene	gene with protein product	"""3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase"""	142940	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)"""	HMGCS			Standard	NM_001098272		Approved		uc003jnq.5	Q01581		ENST00000325110.6:c.43A>G	5.37:g.43299025T>C	ENSP00000322706:p.Lys15Glu					HMGCS1_ENST00000433297.2_Missense_Mutation_p.K15E	p.K15E	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN			3	249	-			15					B2RDL8	Missense_Mutation	SNP	ENST00000325110.6	37	c.43A>G	CCDS34154.1	.	.	.	.	.	.	.	.	.	.	T	16.00	2.999654	0.54147	.	.	ENSG00000112972	ENST00000325110;ENST00000433297;ENST00000545275;ENST00000511774	D;D;D	0.88664	-2.41;-2.41;-2.41	6.02	6.02	0.97574	Hydroxymethylglutaryl-coenzyme A synthase, N-terminal (1);Thiolase-like, subgroup (1);	0.039757	0.85682	D	0.000000	T	0.77850	0.4192	N	0.04724	-0.175	0.80722	D	1	B	0.23058	0.079	B	0.14578	0.011	T	0.73751	-0.3884	10	0.21014	T	0.42	-13.8596	16.542	0.84395	0.0:0.0:0.0:1.0	.	15	Q01581	HMCS1_HUMAN	E	15	ENSP00000322706:K15E;ENSP00000399402:K15E;ENSP00000427339:K15E	ENSP00000322706:K15E	K	-	1	0	HMGCS1	43334782	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.608000	0.82898	2.304000	0.77564	0.528000	0.53228	AAA		0.378	HMGCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368022.1			19	68	0	0	0	1	0	19	68				
MAT1A	4143	broad.mit.edu	37	10	82039992	82039992	+	Silent	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr10:82039992G>A	ENST00000372213.3	-	5	746	c.486C>T	c.(484-486)gcC>gcT	p.A162A		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	162					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CTGCCATCCGGGCGTTGAGCT	0.607																																						ENST00000372213.3																			0				endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(484-486)gcC>gcT		methionine adenosyltransferase I, alpha	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)						80.0	85.0	83.0					10																	82039992		2203	4300	6503	SO:0001819	synonymous_variant	4143				methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	g.chr10:82039992G>A		CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"""S-adenosylmethionine synthetase"""	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.486C>T	10.37:g.82039992G>A							p.A162A	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	Colorectal(32;0.229)		5	746	-			162					D3DWD5|Q5QP09	Silent	SNP	ENST00000372213.3	37	c.486C>T	CCDS7365.1																																																																																				0.607	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049070.1	NM_000429		32	106	0	0	0	1	0	32	106				
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	lincRNA	SNP	C	C	G	rs199933143		TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284																																						ENST00000369381.2																			0																																																			101927209							g.chr1:142713773C>G																													1.37:g.142713773C>G														0	832	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			6	57	0	0	0	1	0	6	57				
KALRN	8997	broad.mit.edu	37	3	124117545	124117545	+	Splice_Site	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr3:124117545G>A	ENST00000240874.3	+	13	2324	c.2167G>A	c.(2167-2169)Gac>Aac	p.D723N	KALRN_ENST00000460856.1_Splice_Site_p.D723N|KALRN_ENST00000360013.3_Splice_Site_p.D723N	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	723					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTGCCACAGGGACTCGGCTGT	0.552																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.e13-1		kalirin, RhoGEF kinase							134.0	129.0	131.0					3																	124117545		2203	4300	6503	SO:0001630	splice_region_variant	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124117545G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.2166-1G>A	3.37:g.124117545G>A						KALRN_ENST00000460856.1_Splice_Site_p.D723_splice|KALRN_ENST00000240874.3_Splice_Site_p.D723_splice	p.D723_splice	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			13	2294	+			723					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Splice_Site	SNP	ENST00000240874.3	37	c.2165_splice	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195185	0.78902	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	T;T;T	0.67171	0.82;0.82;-0.25	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.71392	0.3334	L	0.34521	1.04	0.80722	D	1	B;B;D;B	0.69078	0.026;0.001;0.997;0.165	B;B;P;B	0.60789	0.023;0.006;0.879;0.051	T	0.64833	-0.6314	10	0.21540	T	0.41	.	19.4714	0.94965	0.0:0.0:1.0:0.0	.	723;69;723;723	C9IZQ6;F2Z3Q6;O60229;O60229-2	.;.;KALRN_HUMAN;.	N	723	ENSP00000418611:D723N;ENSP00000240874:D723N;ENSP00000353109:D723N	ENSP00000240874:D723N	D	+	1	0	KALRN	125600235	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.657000	0.98554	2.843000	0.97960	0.585000	0.79938	GAC		0.552	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947	Missense_Mutation	177	193	0	0	0	1	0	177	193				
BAZ2A	11176	broad.mit.edu	37	12	56993064	56993064	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr12:56993064A>C	ENST00000551812.1	-	27	5450	c.5257T>G	c.(5257-5259)Ttc>Gtc	p.F1753V	BAZ2A_ENST00000179765.5_Missense_Mutation_p.F1721V|BAZ2A_ENST00000549884.1_Missense_Mutation_p.F1751V|BAZ2A_ENST00000379441.3_Missense_Mutation_p.F1723V|BAZ2A_ENST00000553222.1_5'Flank	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1753					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CCCTCTGAGAAGTTCAGCGAA	0.577																																						ENST00000179765.5																			0				breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						c.(5161-5163)Ttc>Gtc		bromodomain adjacent to zinc finger domain, 2A							33.0	33.0	33.0					12																	56993064		1968	4138	6106	SO:0001583	missense	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:56993064A>C	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.5257T>G	12.37:g.56993064A>C	ENSP00000446880:p.Phe1753Val					BAZ2A_ENST00000379441.3_Missense_Mutation_p.F1723V|BAZ2A_ENST00000551812.1_Missense_Mutation_p.F1753V|BAZ2A_ENST00000549884.1_Missense_Mutation_p.F1751V	p.F1721V			Q9UIF9	BAZ2A_HUMAN			28	5360	-			1753					B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	37	c.5161T>G	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	A	9.244	1.038934	0.19669	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549787;ENST00000549884	T;T;T;T;T	0.69435	-0.14;-0.14;-0.14;-0.4;-0.14	5.32	5.32	0.75619	.	0.480147	0.22340	N	0.061351	T	0.65606	0.2707	N	0.19112	0.55	0.33555	D	0.59666	D;B;P;B	0.62365	0.991;0.423;0.843;0.328	P;P;P;B	0.58520	0.84;0.598;0.727;0.053	T	0.70487	-0.4858	10	0.27082	T	0.32	-10.6085	14.9553	0.71107	1.0:0.0:0.0:0.0	.	1751;1749;1753;1726	F8VU39;Q9UIF9-3;Q9UIF9;Q9UIF9-2	.;.;BAZ2A_HUMAN;.	V	1723;1721;1753;685;1751	ENSP00000368754:F1723V;ENSP00000179765:F1721V;ENSP00000446880:F1753V;ENSP00000448760:F685V;ENSP00000447941:F1751V	ENSP00000179765:F1721V	F	-	1	0	BAZ2A	55279331	1.000000	0.71417	0.987000	0.45799	0.058000	0.15608	2.505000	0.45424	2.317000	0.78254	0.460000	0.39030	TTC		0.577	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		7	19	0	0	0	1	0	7	19				
DPH5	51611	broad.mit.edu	37	1	101487279	101487279	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:101487279C>T	ENST00000370109.3	-	3	290	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	DPH5_ENST00000488176.1_Missense_Mutation_p.E60K|DPH5_ENST00000342173.7_Missense_Mutation_p.E60K|DPH5_ENST00000370105.3_5'UTR	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	60					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		diphthine synthase activity (GO:0004164)	p.E60*(1)		endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		TGTTCCACTTCTTCTCTATCA	0.373																																						ENST00000370109.3																			1	Substitution - Nonsense(1)	p.E60*(1)	large_intestine(1)	endometrium(2)|large_intestine(1)|lung(4)	7						c.(178-180)Gaa>Aaa		diphthamide biosynthesis 5							159.0	148.0	151.0					1																	101487279		1861	4114	5975	SO:0001583	missense	51611				peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity	g.chr1:101487279C>T	AF132964	CCDS41358.1, CCDS41359.1	1p21.2	2013-05-02	2013-05-02		ENSG00000117543	ENSG00000117543			24270	protein-coding gene	gene with protein product		611075	"""DPH5 homolog (S. cerevisiae)"""			15485916, 23486472	Standard	NM_015958		Approved	CGI-30	uc001dtt.2	Q9H2P9	OTTHUMG00000010829	ENST00000370109.3:c.178G>A	1.37:g.101487279C>T	ENSP00000359127:p.Glu60Lys					DPH5_ENST00000342173.7_Missense_Mutation_p.E60K|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000488176.1_Missense_Mutation_p.E60K	p.E60K	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)	3	290	-		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	60					A8JZY6|D3DT62|Q9P017|Q9P0I4|Q9Y319	Missense_Mutation	SNP	ENST00000370109.3	37	c.178G>A	CCDS41358.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.663733	0.47572	.	.	ENSG00000117543	ENST00000370109;ENST00000434818;ENST00000422396;ENST00000342173;ENST00000488176	.	.	.	6.02	3.14	0.36123	Tetrapyrrole methylase (2);Tetrapyrrole methylase, subdomain 1 (1);	0.255981	0.44285	D	0.000470	T	0.12646	0.0307	N	0.16166	0.38	0.80722	D	1	B;B;B	0.16166	0.001;0.016;0.007	B;B;B	0.19666	0.002;0.026;0.004	T	0.14309	-1.0477	9	0.06365	T	0.9	-16.1934	8.6773	0.34187	0.0:0.6789:0.0:0.3211	.	60;60;60	Q9H2P9-5;Q9H2P9;A8JZY6	.;DPH5_HUMAN;.	K	60	.	ENSP00000339630:E60K	E	-	1	0	DPH5	101259867	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.385000	0.44371	1.565000	0.49641	0.655000	0.94253	GAA		0.373	DPH5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000029881.1	NM_015958		6	47	0	0	0	1	0	6	47				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000328354.6_Silent_p.S372S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		5	65	0	0	0	1	0	5	65				
MLLT3	4300	broad.mit.edu	37	9	20414373	20414373	+	Silent	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr9:20414373G>A	ENST00000380338.4	-	5	757	c.471C>T	c.(469-471)agC>agT	p.S157S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	157	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S157S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S157S(5)	endometrium(3)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(469-471)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	14.0	12.0					9																	20414373		1757	3647	5404	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414373G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.471C>T	9.37:g.20414373G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S	p.S157S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	757	-			157			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.471C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	67	0	0	0	1	0	5	67				
MYOM2	9172	broad.mit.edu	37	8	2026915	2026915	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr8:2026915T>C	ENST00000262113.4	+	12	1504	c.1363T>C	c.(1363-1365)Ttc>Ctc	p.F455L	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	455	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GTCTTACATATTCCGAGTGAG	0.522																																						ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(1363-1365)Ttc>Ctc		myomesin 2							160.0	173.0	169.0					8																	2026915		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2026915T>C		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1363T>C	8.37:g.2026915T>C	ENSP00000262113:p.Phe455Leu					MYOM2_ENST00000523438.1_Intron	p.F455L	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	12	1504	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	455			Fibronectin type-III 1.		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.1363T>C	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.076209	0.76415	.	.	ENSG00000036448	ENST00000262113	T	0.59906	0.23	4.71	4.71	0.59529	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79879	0.4522	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84763	0.0763	10	0.87932	D	0	.	14.496	0.67688	0.0:0.0:0.0:1.0	.	455	P54296	MYOM2_HUMAN	L	455	ENSP00000262113:F455L	ENSP00000262113:F455L	F	+	1	0	MYOM2	2014322	1.000000	0.71417	0.876000	0.34364	0.356000	0.29392	7.685000	0.84117	1.872000	0.54250	0.459000	0.35465	TTC		0.522	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		46	176	0	0	0	1	0	46	176				
GRM8	2918	broad.mit.edu	37	7	126544682	126544682	+	Silent	SNP	T	T	C			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr7:126544682T>C	ENST00000339582.2	-	4	1591	c.783A>G	c.(781-783)gaA>gaG	p.E261E	GRM8_ENST00000358373.3_Silent_p.E261E|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Silent_p.E261E|GRM8_ENST00000405249.1_Silent_p.E261E			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	261					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				TTTTTTCAAATTCTCCAGGTC	0.398										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(781-783)gaA>gaG		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						94.0	93.0	93.0					7																	126544682		2203	4300	6503	SO:0001819	synonymous_variant	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126544682T>C		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.783A>G	7.37:g.126544682T>C		HNSCC(24;0.065)				GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Silent_p.E261E|GRM8_ENST00000405249.1_Silent_p.E261E|GRM8_ENST00000358373.3_Silent_p.E261E	p.E261E			O00222	GRM8_HUMAN			4	1591	-		Prostate(267;0.186)	261					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.783A>G	CCDS5794.1																																																																																				0.398	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			13	57	0	0	0	1	0	13	57				
LRP5	4041	broad.mit.edu	37	11	68125191	68125191	+	Missense_Mutation	SNP	A	A	T	rs372984788		TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:68125191A>T	ENST00000294304.7	+	3	668	c.562A>T	c.(562-564)Atc>Ttc	p.I188F		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	188	Beta-propeller 1.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CACCCGGAAGATCATTGTGGA	0.597																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(562-564)Atc>Ttc		low density lipoprotein receptor-related protein 5							97.0	81.0	86.0					11																	68125191		2200	4294	6494	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68125191A>T	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.562A>T	11.37:g.68125191A>T	ENSP00000294304:p.Ile188Phe						p.I188F	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			3	668	+			188			Beta-propeller 1.		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.562A>T	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	A	14.74	2.625750	0.46840	.	.	ENSG00000162337	ENST00000294304	D	0.96396	-4.0	3.56	-2.01	0.07410	Six-bladed beta-propeller, TolB-like (1);	0.266407	0.24766	U	0.035774	D	0.95076	0.8405	M	0.80028	2.48	0.32986	D	0.524256	P	0.45212	0.853	B	0.44108	0.441	D	0.93514	0.6855	10	0.87932	D	0	.	9.7343	0.40379	0.5033:0.0:0.4967:0.0	.	188	O75197	LRP5_HUMAN	F	188	ENSP00000294304:I188F	ENSP00000294304:I188F	I	+	1	0	LRP5	67881767	0.596000	0.26866	0.302000	0.25058	0.710000	0.40934	0.506000	0.22658	-0.373000	0.07979	0.374000	0.22700	ATC		0.597	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		9	22	0	0	0	1	0	9	22				
ANKFN1	162282	broad.mit.edu	37	17	54452067	54452067	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr17:54452067G>T	ENST00000318698.2	+	7	946	c.911G>T	c.(910-912)aGg>aTg	p.R304M	ANKFN1_ENST00000566473.2_Missense_Mutation_p.R304M	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	304	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.									NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GTAGTAACCAGGTATAAAGGT	0.433																																						ENST00000566473.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						c.(910-912)aGg>aTg		ankyrin-repeat and fibronectin type III domain containing 1							154.0	136.0	142.0					17																	54452067		2203	4300	6503	SO:0001583	missense	162282							g.chr17:54452067G>T	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.911G>T	17.37:g.54452067G>T	ENSP00000321627:p.Arg304Met					ANKFN1_ENST00000318698.2_Missense_Mutation_p.R304M	p.R304M			Q8N957	ANKF1_HUMAN			7	911	+			304			Fibronectin type-III.			Missense_Mutation	SNP	ENST00000318698.2	37	c.911G>T	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544842	0.65198	.	.	ENSG00000153930	ENST00000318698	T	0.58210	0.35	5.51	1.97	0.26223	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.086416	0.85682	D	0.000000	T	0.50034	0.1592	L	0.38175	1.15	0.42809	D	0.993955	P	0.49253	0.921	P	0.55222	0.771	T	0.50558	-0.8814	10	0.87932	D	0	-7.0606	5.3689	0.16129	0.5343:0.0:0.4657:0.0	.	304	Q8N957	ANKF1_HUMAN	M	304	ENSP00000321627:R304M	ENSP00000321627:R304M	R	+	2	0	ANKFN1	51807066	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.134000	0.57990	0.817000	0.34445	-0.148000	0.13756	AGG		0.433	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		14	91	1	0	1.5739e-10	1	1.76928e-10	14	91				
TNIP3	79931	broad.mit.edu	37	4	122063059	122063059	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr4:122063059G>A	ENST00000509841.1	-	12	1106	c.1028C>T	c.(1027-1029)cCa>cTa	p.P343L	TNIP3_ENST00000507879.1_Missense_Mutation_p.P336L|TNIP3_ENST00000511909.1_5'UTR|TNIP3_ENST00000454328.1_Missense_Mutation_p.P266L|TNIP3_ENST00000057513.3_Missense_Mutation_p.P266L	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3											NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						GTTACAGGGTGGGCAATACAT	0.498																																						ENST00000454328.1																			0				NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						c.(796-798)cCa>cTa		TNFAIP3 interacting protein 3							77.0	72.0	74.0					4																	122063059		2203	4300	6503	SO:0001583	missense	79931							g.chr4:122063059G>A	AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.1028C>T	4.37:g.122063059G>A	ENSP00000426613:p.Pro343Leu					TNIP3_ENST00000509841.1_Missense_Mutation_p.P343L|TNIP3_ENST00000507879.1_Missense_Mutation_p.P336L|TNIP3_ENST00000057513.3_Missense_Mutation_p.P266L|TNIP3_ENST00000511909.1_5'UTR	p.P266L			Q96KP6	TNIP3_HUMAN			11	1024	-			266						Missense_Mutation	SNP	ENST00000509841.1	37	c.797C>T	CCDS58926.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.520273	0.27211	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	T;T;T;T	0.43688	0.95;0.95;0.94;0.94	4.56	3.71	0.42584	.	0.750266	0.11647	N	0.543208	T	0.32941	0.0846	L	0.41236	1.265	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.14578	0.011;0.003	T	0.18650	-1.0330	10	0.33141	T	0.24	-3.7027	7.9284	0.29889	0.1975:0.0:0.8025:0.0	.	336;266	B4DVF5;Q96KP6	.;TNIP3_HUMAN	L	266;266;336;343	ENSP00000057513:P266L;ENSP00000411817:P266L;ENSP00000427106:P336L;ENSP00000426613:P343L	ENSP00000057513:P266L	P	-	2	0	TNIP3	122282509	0.062000	0.20869	0.076000	0.20297	0.171000	0.22731	1.279000	0.33191	1.222000	0.43521	0.655000	0.94253	CCA		0.498	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	NM_024873		3	35	0	0	0	1	0	3	35				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		5	64	0	0	0	1	0	5	64				
ACTL6A	86	broad.mit.edu	37	3	179298935	179298935	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr3:179298935C>A	ENST00000429709.2	+	11	1166	c.953C>A	c.(952-954)tCa>tAa	p.S318*	ACTL6A_ENST00000392662.1_Nonsense_Mutation_p.S276*|RP11-15L13.4_ENST00000608818.1_RNA|ACTL6A_ENST00000450518.2_Nonsense_Mutation_p.S276*	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	318					ATP-dependent chromatin remodeling (GO:0043044)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|nervous system development (GO:0007399)|neural retina development (GO:0003407)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|npBAF complex (GO:0071564)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			TAGGGGTTATCAGGAAACACA	0.393																																						ENST00000429709.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21						c.(952-954)tCa>tAa		actin-like 6A							308.0	289.0	295.0					3																	179298935		2203	4300	6503	SO:0001587	stop_gained	86				chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding	g.chr3:179298935C>A	AK098691	CCDS3231.1, CCDS43174.1	3q26.33	2011-07-06			ENSG00000136518	ENSG00000136518		"""INO80 complex subunits"""	24124	protein-coding gene	gene with protein product	"""BAF complex 53 kDa subunit"", ""BRG1-associated factor"", ""actin-related protein 4"", ""INO80 complex subunit K"""	604958				9845365, 10380635	Standard	NM_004301		Approved	Actl6, BAF53A, Arp4, Baf53a, INO80K	uc003fjw.3	O96019	OTTHUMG00000157782	ENST00000429709.2:c.953C>A	3.37:g.179298935C>A	ENSP00000397552:p.Ser318*					ACTL6A_ENST00000450518.2_Nonsense_Mutation_p.S276*|ACTL6A_ENST00000392662.1_Nonsense_Mutation_p.S276*	p.S318*	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)		11	1166	+	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		318					B3KMN1|D3DNR9|Q8TAE5|Q9BVS8|Q9H0W6	Nonsense_Mutation	SNP	ENST00000429709.2	37	c.953C>A	CCDS3231.1	.	.	.	.	.	.	.	.	.	.	C	41	9.076789	0.99057	.	.	ENSG00000136518	ENST00000429709;ENST00000450518;ENST00000392662	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.8419	0.96692	0.0:1.0:0.0:0.0	.	.	.	.	X	318;276;276	.	ENSP00000376430:S276X	S	+	2	0	ACTL6A	180781629	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	7.463000	0.80869	2.699000	0.92147	0.467000	0.42956	TCA		0.393	ACTL6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349599.1	NM_004301		20	165	1	0	3.62473e-10	1	4.04679e-10	20	165				
ADCY8	114	broad.mit.edu	37	8	131880092	131880092	+	Splice_Site	SNP	C	C	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr8:131880092C>A	ENST00000286355.5	-	9	4302	c.2210G>T	c.(2209-2211)aGa>aTa	p.R737I	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	737					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTACATTTACCTTGAAGAAGG	0.343										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.e9+1		adenylate cyclase 8 (brain)							79.0	71.0	74.0					8																	131880092		2203	4300	6503	SO:0001630	splice_region_variant	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131880092C>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2210+1G>T	8.37:g.131880092C>A		HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Intron	p.R737_splice	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		9	4302	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		737						Splice_Site	SNP	ENST00000286355.5	37	c.2210_splice	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291208	0.59976	.	.	ENSG00000155897	ENST00000286355	T	0.46063	0.88	5.9	5.9	0.94986	.	0.041749	0.85682	D	0.000000	T	0.55065	0.1897	L	0.55481	1.735	0.80722	D	1	D	0.67145	0.996	P	0.56700	0.804	T	0.47837	-0.9086	9	.	.	.	.	17.7564	0.88450	0.0:1.0:0.0:0.0	.	737	P40145	ADCY8_HUMAN	I	737	ENSP00000286355:R737I	.	R	-	2	0	ADCY8	131949274	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.084000	0.76866	2.802000	0.96397	0.650000	0.86243	AGA		0.343	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1		Missense_Mutation	19	43	1	0	2.4624e-09	1	2.71196e-09	19	43				
GPRASP1	9737	broad.mit.edu	37	X	101912650	101912650	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chrX:101912650A>G	ENST00000361600.5	+	5	4610	c.3809A>G	c.(3808-3810)tAt>tGt	p.Y1270C	GPRASP1_ENST00000537097.1_Missense_Mutation_p.Y1270C|GPRASP1_ENST00000444152.1_Missense_Mutation_p.Y1270C|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Missense_Mutation_p.Y1270C	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1270	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ACTACTGACTATCACACACTG	0.403																																						ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3808-3810)tAt>tGt		G protein-coupled receptor associated sorting protein 1							103.0	83.0	90.0					X																	101912650		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101912650A>G	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3809A>G	X.37:g.101912650A>G	ENSP00000355146:p.Tyr1270Cys					GPRASP1_ENST00000415986.1_Missense_Mutation_p.Y1270C|GPRASP1_ENST00000361600.5_Missense_Mutation_p.Y1270C|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.Y1270C	p.Y1270C	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	4622	+			1270			OPRD1-binding.		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.3809A>G	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	A	11.16	1.558093	0.27827	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	2.9	2.9	0.33743	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.55353	0.1915	M	0.77103	2.36	0.38883	D	0.956944	D	0.89917	1.0	D	0.91635	0.999	T	0.59931	-0.7361	9	0.87932	D	0	-5.2229	6.7331	0.23395	1.0:0.0:0.0:0.0	.	1270	Q5JY77	GASP1_HUMAN	C	1270	ENSP00000393691:Y1270C;ENSP00000409420:Y1270C;ENSP00000355146:Y1270C;ENSP00000445683:Y1270C	ENSP00000355146:Y1270C	Y	+	2	0	GPRASP1	101799306	1.000000	0.71417	0.973000	0.42090	0.962000	0.63368	3.445000	0.52921	1.392000	0.46585	0.376000	0.23039	TAT		0.403	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		19	37	0	0	0	1	0	19	37				
GLIS3	169792	broad.mit.edu	37	9	3937152	3937152	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr9:3937152T>A	ENST00000324333.10	-	4	1476	c.1283A>T	c.(1282-1284)aAt>aTt	p.N428I	GLIS3_ENST00000381971.3_Missense_Mutation_p.N583I|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	428					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	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 negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GATCTTGAGATTTTCAAGCCT	0.488																																						ENST00000324333.10																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(1282-1284)aAt>aTt		GLIS family zinc finger 3							93.0	94.0	93.0					9																	3937152		2203	4300	6503	SO:0001583	missense	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:3937152T>A	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.1283A>T	9.37:g.3937152T>A	ENSP00000325494:p.Asn428Ile					GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.N583I	p.N428I	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	4	1476	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	428					B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	c.1283A>T	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.379107	0.82682	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.35789	1.29;1.29	5.94	5.94	0.96194	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49305	U	0.000153	T	0.56906	0.2017	L	0.54908	1.71	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.58831	-0.7567	10	0.87932	D	0	.	16.0679	0.80897	0.0:0.0:0.0:1.0	.	96;96;583;428	Q1PHK2;Q1PHK3;Q8NEA6-2;Q8NEA6	.;.;.;GLIS3_HUMAN	I	428;583	ENSP00000325494:N428I;ENSP00000371398:N583I	ENSP00000325494:N428I	N	-	2	0	GLIS3	3927152	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.265000	0.75225	0.482000	0.46254	AAT		0.488	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		12	164	0	0	0	1	0	12	164				
NR3C2	4306	broad.mit.edu	37	4	149357812	149357812	+	Silent	SNP	T	T	C			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr4:149357812T>C	ENST00000358102.3	-	2	563	c.201A>G	c.(199-201)aaA>aaG	p.K67K	NR3C2_ENST00000512865.1_Silent_p.K67K|NR3C2_ENST00000355292.3_Silent_p.K67K|NR3C2_ENST00000511528.1_Silent_p.K67K|NR3C2_ENST00000344721.4_Silent_p.K67K	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	67	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	GTAGTTCTTGTTTTTCTTTGC	0.418																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(199-201)aaA>aaG		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						132.0	133.0	133.0					4																	149357812		2203	4300	6503	SO:0001819	synonymous_variant	4306				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149357812T>C	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.201A>G	4.37:g.149357812T>C						NR3C2_ENST00000358102.3_Silent_p.K67K|NR3C2_ENST00000344721.4_Silent_p.K67K|NR3C2_ENST00000342437.4_Silent_p.K67K|NR3C2_ENST00000512865.1_Silent_p.K67K|NR3C2_ENST00000511528.1_Silent_p.K67K	p.K67K			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	2	563	-	all_hematologic(180;0.151)		67			Modulating.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP	ENST00000358102.3	37	c.201A>G	CCDS3772.1																																																																																				0.418	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			25	69	0	0	0	1	0	25	69				
BICC1	80114	broad.mit.edu	37	10	60546833	60546833	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr10:60546833A>C	ENST00000373886.3	+	5	542	c.538A>C	c.(538-540)Agc>Cgc	p.S180R		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	180	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						AGCAGAAAAAAGCAACCAGGT	0.368																																						ENST00000373886.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						c.(538-540)Agc>Cgc		bicaudal C homolog 1 (Drosophila)							68.0	66.0	66.0					10																	60546833		2203	4300	6503	SO:0001583	missense	80114				multicellular organismal development		RNA binding	g.chr10:60546833A>C	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.538A>C	10.37:g.60546833A>C	ENSP00000362993:p.Ser180Arg						p.S180R	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN			5	542	+			180			KH 1.			Missense_Mutation	SNP	ENST00000373886.3	37	c.538A>C	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.755480	0.89843	.	.	ENSG00000122870	ENST00000373886	T	0.25579	1.79	5.79	5.79	0.91817	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.54822	0.1882	M	0.80847	2.515	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.60063	-0.7336	10	0.72032	D	0.01	-16.7046	16.1293	0.81414	1.0:0.0:0.0:0.0	.	180	Q9H694	BICC1_HUMAN	R	180	ENSP00000362993:S180R	ENSP00000362993:S180R	S	+	1	0	BICC1	60216839	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.198000	0.94994	2.212000	0.71576	0.460000	0.39030	AGC		0.368	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		16	51	0	0	0	1	0	16	51				
NPFFR2	10886	broad.mit.edu	37	4	72897718	72897718	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr4:72897718C>T	ENST00000308744.6	+	1	198	c.100C>T	c.(100-102)Ctc>Ttc	p.L34F	NPFFR2_ENST00000344413.5_Missense_Mutation_p.L34F	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	34					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GCGCAGAGCACTCAGCGTCCA	0.667																																						ENST00000308744.6																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(100-102)Ctc>Ttc		neuropeptide FF receptor 2							28.0	34.0	32.0					4																	72897718		2198	4298	6496	SO:0001583	missense	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:72897718C>T	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.100C>T	4.37:g.72897718C>T	ENSP00000307822:p.Leu34Phe					NPFFR2_ENST00000344413.5_Missense_Mutation_p.L34F	p.L34F	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		1	198	+			34					Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	c.100C>T	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.500864	0.26861	.	.	ENSG00000056291	ENST00000308744;ENST00000344413	T	0.76839	-1.05	3.31	1.41	0.22369	.	12.314200	0.00357	N	0.000025	T	0.59514	0.2199	N	0.08118	0	0.09310	N	1	B	0.28512	0.214	B	0.22753	0.041	T	0.53995	-0.8359	10	0.52906	T	0.07	.	4.7498	0.13056	0.0:0.5661:0.3015:0.1324	.	34	Q9Y5X5	NPFF2_HUMAN	F	34	ENSP00000307822:L34F	ENSP00000307822:L34F	L	+	1	0	NPFFR2	73116582	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	0.127000	0.15790	0.318000	0.23185	0.305000	0.20034	CTC		0.667	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		10	70	0	0	0	1	0	10	70				
PBRM1	55193	broad.mit.edu	37	3	52597473	52597473	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr3:52597473C>A	ENST00000296302.7	-	24	3913	c.3912G>T	c.(3910-3912)ttG>ttT	p.L1304F	RNU6ATAC16P_ENST00000408591.1_RNA|PBRM1_ENST00000337303.4_Missense_Mutation_p.L1304F|PBRM1_ENST00000409057.1_Missense_Mutation_p.L1304F|PBRM1_ENST00000394830.3_Missense_Mutation_p.L1279F|PBRM1_ENST00000410007.1_Missense_Mutation_p.L1279F|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000356770.4_Missense_Mutation_p.L1272F|PBRM1_ENST00000409114.3_Missense_Mutation_p.L1319F|PBRM1_ENST00000409767.1_Missense_Mutation_p.L1319F			Q86U86	PB1_HUMAN	polybromo 1	1304					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCTTTTCCAGCAAAGGTGATG	0.408			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(3814-3816)ttG>ttT		polybromo 1							128.0	117.0	121.0					3																	52597473		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52597473C>A	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3912G>T	3.37:g.52597473C>A	ENSP00000296302:p.Leu1304Phe					PBRM1_ENST00000409114.3_Missense_Mutation_p.L1319F|PBRM1_ENST00000409057.1_Missense_Mutation_p.L1304F|PBRM1_ENST00000394830.3_Missense_Mutation_p.L1279F|PBRM1_ENST00000337303.4_Missense_Mutation_p.L1304F|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000296302.7_Missense_Mutation_p.L1304F|PBRM1_ENST00000409767.1_Missense_Mutation_p.L1319F|PBRM1_ENST00000410007.1_Missense_Mutation_p.L1279F	p.L1272F			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	23	3818	-			1304			BAH 2.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.3816G>T		.	.	.	.	.	.	.	.	.	.	C	13.00	2.106141	0.37145	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	T;T;T;T;T;T;T;T;T	0.37752	1.18;1.23;1.23;1.18;1.19;1.27;1.66;1.18;1.18	5.53	0.292	0.15737	.	0.000000	0.64402	D	0.000001	T	0.33644	0.0870	L	0.42245	1.32	0.42780	D	0.993863	B;D;B;B;B;B;B;D	0.63880	0.023;0.993;0.01;0.023;0.023;0.037;0.01;0.983	B;P;B;B;B;B;B;P	0.56563	0.021;0.801;0.006;0.011;0.021;0.009;0.006;0.731	T	0.25847	-1.0120	10	0.28530	T	0.3	-7.226	1.8375	0.03143	0.1569:0.3629:0.1037:0.3766	.	1279;1279;1304;1319;1319;1304;1272;1304	Q86U86-9;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;PB1_HUMAN;.;.	F	1272;1279;1304;1304;1304;1279;1319;1319;1303	ENSP00000349213:L1272F;ENSP00000378307:L1279F;ENSP00000296302:L1304F;ENSP00000338302:L1304F;ENSP00000386593:L1304F;ENSP00000386529:L1279F;ENSP00000386643:L1319F;ENSP00000386601:L1319F;ENSP00000387775:L1303F	ENSP00000296302:L1304F	L	-	3	2	PBRM1	52572513	0.709000	0.27886	0.984000	0.44739	0.980000	0.70556	-0.094000	0.11094	0.047000	0.15862	0.561000	0.74099	TTG		0.408	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		3	51	1	0	1	1	1	3	51				
TMPRSS2	7113	broad.mit.edu	37	21	42866455	42866455	+	Silent	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr21:42866455C>T	ENST00000332149.5	-	3	200	c.66G>A	c.(64-66)ccG>ccA	p.P22P	TMPRSS2_ENST00000398585.3_Silent_p.P59P|TMPRSS2_ENST00000458356.1_Silent_p.P22P|TMPRSS2_ENST00000497881.1_Intron	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	22					positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				AGGGGTTTTCCGGTTGGTATC	0.512			T	"""ERG, ETV1, ETV4, ETV5"""	prostate																																	ENST00000398585.3				Dom	yes		21	21q22.3	7113	T	"""transmembrane protease, serine 2"""			E	"""ERG, ETV1, ETV4, ETV5"""		prostate	TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	0				central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(175-177)ccG>ccA		transmembrane protease, serine 2							131.0	117.0	122.0					21																	42866455		2203	4300	6503	SO:0001819	synonymous_variant	7113				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:42866455C>T	U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"""Serine peptidases / Transmembrane"""	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.66G>A	21.37:g.42866455C>T						TMPRSS2_ENST00000458356.1_Silent_p.P22P|TMPRSS2_ENST00000332149.5_Silent_p.P22P|TMPRSS2_ENST00000497881.1_Intron	p.P59P	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN			3	237	-		Prostate(19;4.48e-07)|all_epithelial(19;0.031)	22					A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Silent	SNP	ENST00000332149.5	37	c.177G>A	CCDS33564.1																																																																																				0.512	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1			20	71	0	0	0	1	0	20	71				
CABLES2	81928	broad.mit.edu	37	20	60967494	60967494	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr20:60967494A>T	ENST00000279101.5	-	8	1050	c.1042T>A	c.(1042-1044)Ttc>Atc	p.F348I		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	348					cell cycle (GO:0007049)|cell division (GO:0051301)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)		cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TTCTCCCTGAAGGTCTCGTTC	0.572																																						ENST00000279101.5																			0				endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11						c.(1042-1044)Ttc>Atc		Cdk5 and Abl enzyme substrate 2							240.0	211.0	221.0					20																	60967494		2203	4300	6503	SO:0001583	missense	81928				cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity	g.chr20:60967494A>T	BC003122	CCDS33503.1	20q13.33	2004-01-09	2004-01-09	2004-01-09	ENSG00000149679	ENSG00000149679			16143	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 150"""	C20orf150		12477932	Standard	NM_031215		Approved	dJ908M14.2, ik3-2	uc002ycv.2	Q9BTV7	OTTHUMG00000032912	ENST00000279101.5:c.1042T>A	20.37:g.60967494A>T	ENSP00000279101:p.Phe348Ile						p.F348I	NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		8	1050	-	Breast(26;2.05e-08)		348					Q5JWL0|Q9BYK0	Missense_Mutation	SNP	ENST00000279101.5	37	c.1042T>A	CCDS33503.1	.	.	.	.	.	.	.	.	.	.	A	34	5.410756	0.96072	.	.	ENSG00000149679	ENST00000370560;ENST00000279101	T	0.16897	2.31	5.64	5.64	0.86602	Cyclin-like (1);	0.000000	0.85682	D	0.000000	T	0.50667	0.1629	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61382	-0.7074	10	0.87932	D	0	-38.9557	15.844	0.78874	1.0:0.0:0.0:0.0	.	348	Q9BTV7	CABL2_HUMAN	I	136;348	ENSP00000279101:F348I	ENSP00000279101:F348I	F	-	1	0	CABLES2	60400889	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.118000	0.94355	2.157000	0.67596	0.533000	0.62120	TTC		0.572	CABLES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080027.2	XM_037265		19	152	0	0	0	1	0	19	152				
PRR14	78994	broad.mit.edu	37	16	30666035	30666035	+	Silent	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr16:30666035G>A	ENST00000542965.2	+	7	1200	c.744G>A	c.(742-744)ccG>ccA	p.P248P	PRR14_ENST00000300835.4_Silent_p.P248P			Q9BWN1	PRR14_HUMAN	proline rich 14	248	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			GCTTGGCCCCGCTCTTCCGTT	0.647																																						ENST00000542965.2																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18						c.(742-744)ccG>ccA		proline rich 14							47.0	41.0	43.0					16																	30666035		2197	4300	6497	SO:0001819	synonymous_variant	78994							g.chr16:30666035G>A	AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.744G>A	16.37:g.30666035G>A						PRR14_ENST00000300835.4_Silent_p.P248P	p.P248P			Q9BWN1	PRR14_HUMAN	Colorectal(24;0.103)		7	1200	+			248			Pro-rich.		Q8WTX2	Silent	SNP	ENST00000542965.2	37	c.744G>A	CCDS10687.1																																																																																				0.647	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	NM_024031		15	57	0	0	0	1	0	15	57				
CSMD1	64478	broad.mit.edu	37	8	2976018	2976018	+	Silent	SNP	G	G	A	rs371752238	byFrequency	TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr8:2976018G>A	ENST00000520002.1	-	43	6891	c.6336C>T	c.(6334-6336)ttC>ttT	p.F2112F	CSMD1_ENST00000602723.1_Silent_p.F2112F|CSMD1_ENST00000542608.1_Silent_p.F2111F|CSMD1_ENST00000602557.1_Silent_p.F2112F|CSMD1_ENST00000400186.3_Silent_p.F2112F|CSMD1_ENST00000537824.1_Silent_p.F2111F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2112	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GATAACACTCGAAAGATACTG	0.448													G|||	3	0.000599042	0.0023	0.0	5008	,	,		16327	0.0		0.0	False		,,,				2504	0.0					ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(6334-6336)ttC>ttT		CUB and Sushi multiple domains 1		G		1,4043		0,1,2021	158.0	154.0	155.0		6333	-3.9	0.0	8		155	2,8334		0,2,4166	no	coding-synonymous	CSMD1	NM_033225.5		0,3,6187	AA,AG,GG		0.024,0.0247,0.0242		2111/3565	2976018	3,12377	2022	4168	6190	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:2976018G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6336C>T	8.37:g.2976018G>A						CSMD1_ENST00000400186.3_Silent_p.F2112F|CSMD1_ENST00000537824.1_Silent_p.F2111F|CSMD1_ENST00000542608.1_Silent_p.F2111F|CSMD1_ENST00000602557.1_Silent_p.F2112F|CSMD1_ENST00000602723.1_Silent_p.F2112F	p.F2112F			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	43	6891	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2112			Sushi 12.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.6336C>T		.	.	.	.	.	.	.	.	.	.	G	0.559	-0.846217	0.02671	2.47E-4	2.4E-4	ENSG00000183117	ENST00000335551	.	.	.	5.03	-3.88	0.04205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3312	0.49477	0.5843:0.0:0.4157:0.0	.	.	.	.	X	1592	.	.	R	-	1	2	CSMD1	2963425	0.979000	0.34478	0.001000	0.08648	0.017000	0.09413	0.312000	0.19397	-0.918000	0.03808	-0.251000	0.11542	CGA		0.448	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		11	54	0	0	0	1	0	11	54				
BCL9	607	broad.mit.edu	37	1	147084947	147084947	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:147084947T>C	ENST00000234739.3	+	5	1059	c.319T>C	c.(319-321)Tcc>Ccc	p.S107P	BCL9_ENST00000473292.1_Intron	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	107					canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TTCCGCCGACTCCTTTGATCA	0.512			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(319-321)Tcc>Ccc		B-cell CLL/lymphoma 9							51.0	57.0	55.0					1																	147084947		2203	4300	6503	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147084947T>C	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.319T>C	1.37:g.147084947T>C	ENSP00000234739:p.Ser107Pro					BCL9_ENST00000473292.1_Intron	p.S107P	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			5	1059	+	all_hematologic(923;0.115)		107					Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.319T>C	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.699129	0.88830	.	.	ENSG00000116128	ENST00000234739	T	0.66638	-0.22	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.72653	0.3487	L	0.50333	1.59	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.76366	-0.2985	10	0.72032	D	0.01	-15.2102	15.5898	0.76517	0.0:0.0:0.0:1.0	.	107	O00512	BCL9_HUMAN	P	107	ENSP00000234739:S107P	ENSP00000234739:S107P	S	+	1	0	BCL9	145551571	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.669000	0.83911	2.257000	0.74773	0.533000	0.62120	TCC		0.512	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		15	52	0	0	0	1	0	15	52				
SFSWAP	6433	broad.mit.edu	37	12	132249039	132249039	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr12:132249039G>A	ENST00000261674.4	+	12	1900	c.1759G>A	c.(1759-1761)Gaa>Aaa	p.E587K	SFSWAP_ENST00000541286.1_Missense_Mutation_p.E587K	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	587					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CAAGGCCAAAGAAAATGATCT	0.408																																						ENST00000261674.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						c.(1759-1761)Gaa>Aaa		splicing factor, suppressor of white-apricot homolog (Drosophila)							68.0	62.0	64.0					12																	132249039		2203	4300	6503	SO:0001583	missense	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132249039G>A	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.1759G>A	12.37:g.132249039G>A	ENSP00000261674:p.Glu587Lys					SFSWAP_ENST00000541286.1_Missense_Mutation_p.E587K	p.E587K	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN			12	1900	+			587					B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	ENST00000261674.4	37	c.1759G>A	CCDS9273.1	.	.	.	.	.	.	.	.	.	.	G	32	5.143334	0.94560	.	.	ENSG00000061936	ENST00000261674;ENST00000544623;ENST00000535236;ENST00000541286	T;T;T	0.26373	2.74;1.74;2.67	5.39	5.39	0.77823	.	0.129041	0.64402	D	0.000001	T	0.45597	0.1350	L	0.47716	1.5	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.985	T	0.07966	-1.0745	10	0.29301	T	0.29	-29.5349	19.5059	0.95116	0.0:0.0:1.0:0.0	.	587;587	F5H6B8;Q12872	.;SFSWA_HUMAN	K	587;524;380;587	ENSP00000261674:E587K;ENSP00000443045:E380K;ENSP00000437738:E587K	ENSP00000261674:E587K	E	+	1	0	SFSWAP	130814992	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.013000	0.93629	2.687000	0.91594	0.561000	0.74099	GAA		0.408	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		4	37	0	0	0	1	0	4	37				
OR4P4	81300	broad.mit.edu	37	11	55406375	55406375	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:55406375C>A	ENST00000314612.2	+	1	542	c.542C>A	c.(541-543)cCt>cAt	p.P181H		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GATGTGTATCCTTTGCTGAAA	0.388																																						ENST00000314612.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						c.(541-543)cCt>cAt		olfactory receptor, family 4, subfamily P, member 4							111.0	92.0	99.0					11																	55406375		2179	4012	6191	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406375C>A	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.542C>A	11.37:g.55406375C>A	ENSP00000324831:p.Pro181His						p.P181H	NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN			1	542	+			181						Missense_Mutation	SNP	ENST00000314612.2	37	c.542C>A	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093512	0.56075	.	.	ENSG00000181927	ENST00000314612	T	0.00211	8.54	5.51	5.51	0.81932	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40640	N	0.001043	T	0.00998	0.0033	H	0.95224	3.64	0.09310	N	1	D	0.76494	0.999	D	0.78314	0.991	T	0.27536	-1.0071	10	0.87932	D	0	-13.3745	18.0116	0.89225	0.0:1.0:0.0:0.0	.	181	Q8NGL7	OR4P4_HUMAN	H	181	ENSP00000324831:P181H	ENSP00000324831:P181H	P	+	2	0	OR4P4	55162951	0.012000	0.17670	0.996000	0.52242	0.784000	0.44337	2.474000	0.45154	2.575000	0.86900	0.637000	0.83480	CCT		0.388	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		12	14	1	0	0.0167234	1	0.0169311	12	14				
DLC1	10395	broad.mit.edu	37	8	13357289	13357289	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr8:13357289G>T	ENST00000276297.4	-	2	701	c.292C>A	c.(292-294)Ctt>Att	p.L98I	DLC1_ENST00000511869.1_Missense_Mutation_p.L98I|DLC1_ENST00000316609.5_Missense_Mutation_p.L98I	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	98					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCCAGAGAAAGAAACTGATCT	0.423																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(292-294)Ctt>Att		deleted in liver cancer 1							223.0	225.0	224.0					8																	13357289		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:13357289G>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.292C>A	8.37:g.13357289G>T	ENSP00000276297:p.Leu98Ile					DLC1_ENST00000316609.5_Missense_Mutation_p.L98I|DLC1_ENST00000511869.1_Missense_Mutation_p.L98I	p.L98I	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			2	701	-			98					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.292C>A	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.039908	0.35989	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.34472	1.36;1.36;1.36	5.55	0.363	0.16118	.	0.381500	0.19345	N	0.116557	T	0.34048	0.0884	L	0.52573	1.65	0.09310	N	1	B;P;B	0.51351	0.003;0.944;0.297	B;P;B	0.50617	0.015;0.646;0.033	T	0.13308	-1.0514	10	0.45353	T	0.12	.	3.2813	0.06916	0.1356:0.1181:0.5026:0.2437	.	98;98;98	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	I	98	ENSP00000276297:L98I;ENSP00000321034:L98I;ENSP00000425878:L98I	ENSP00000276297:L98I	L	-	1	0	DLC1	13401660	1.000000	0.71417	0.970000	0.41538	0.490000	0.33462	1.673000	0.37534	0.125000	0.18397	-0.122000	0.15005	CTT		0.423	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		44	144	1	0	1.62263e-30	1	1.93057e-30	44	144				
OR10AG1	282770	broad.mit.edu	37	11	55735541	55735541	+	Silent	SNP	A	A	G			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:55735541A>G	ENST00000312345.2	-	1	449	c.399T>C	c.(397-399)atT>atC	p.I133I		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TTATCAGCTGAATGCAGACTT	0.443																																						ENST00000312345.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(397-399)atT>atC		olfactory receptor, family 10, subfamily AG, member 1							77.0	75.0	76.0					11																	55735541		2201	4296	6497	SO:0001819	synonymous_variant	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735541A>G	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.399T>C	11.37:g.55735541A>G							p.I133I	NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN			1	449	-	Esophageal squamous(21;0.0137)		133					B2RNH4|Q6IEU3	Silent	SNP	ENST00000312345.2	37	c.399T>C	CCDS31514.1																																																																																				0.443	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		9	58	0	0	0	1	0	9	58				
RP1	6101	broad.mit.edu	37	8	55539430	55539430	+	Silent	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr8:55539430C>T	ENST00000220676.1	+	4	3136	c.2988C>T	c.(2986-2988)gcC>gcT	p.A996A		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	996					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTTTTATTGCCAATGACACTG	0.373																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(2986-2988)gcC>gcT		retinitis pigmentosa 1 (autosomal dominant)							173.0	185.0	181.0					8																	55539430		2203	4300	6503	SO:0001819	synonymous_variant	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55539430C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2988C>T	8.37:g.55539430C>T							p.A996A	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	3136	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	996						Silent	SNP	ENST00000220676.1	37	c.2988C>T	CCDS6160.1																																																																																				0.373	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		50	142	0	0	0	1	0	50	142				
GOLGA4	2803	broad.mit.edu	37	3	37367906	37367906	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr3:37367906A>G	ENST00000361924.2	+	14	4903	c.4529A>G	c.(4528-4530)gAg>gGg	p.E1510G	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.E1532G	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1510	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGCAAGATGGAGAAAAAGGAG	0.338																																						ENST00000361924.2																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(4528-4530)gAg>gGg		golgin A4							63.0	67.0	66.0					3																	37367906		2201	4298	6499	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37367906A>G	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.4529A>G	3.37:g.37367906A>G	ENSP00000354486:p.Glu1510Gly					GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.E1532G	p.E1510G	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN			14	4903	+			1510			Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.4529A>G	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	A	18.02	3.529701	0.64860	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.36340	1.28;1.26;1.28	5.67	5.67	0.87782	.	0.222920	0.22884	N	0.054469	T	0.54615	0.1869	M	0.66939	2.045	0.40518	D	0.980805	D;D;D;P	0.63046	0.992;0.992;0.992;0.912	P;P;P;P	0.59357	0.856;0.813;0.813;0.476	T	0.54377	-0.8303	10	0.38643	T	0.18	.	15.92	0.79556	1.0:0.0:0.0:0.0	.	1510;1510;1532;1510	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	G	1510;1532;1381	ENSP00000354486:E1510G;ENSP00000349305:E1532G;ENSP00000405842:E1381G	ENSP00000349305:E1532G	E	+	2	0	GOLGA4	37342910	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	4.713000	0.61895	2.159000	0.67721	0.455000	0.32223	GAG		0.338	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		11	53	0	0	0	1	0	11	53				
MS4A3	932	broad.mit.edu	37	11	59828646	59828646	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:59828646G>A	ENST00000278865.3	+	2	86	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	MS4A3_ENST00000526199.1_3'UTR|MS4A3_ENST00000534744.1_Missense_Mutation_p.E5K|MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000358152.2_Missense_Mutation_p.E5K	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	5						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				GGCCTCCCACGAAGTTGATAA	0.483																																						ENST00000278865.3																			0				endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(13-15)Gaa>Aaa		membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)							79.0	79.0	79.0					11																	59828646		2201	4295	6496	SO:0001583	missense	932					endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	g.chr11:59828646G>A	L35848	CCDS31567.1, CCDS31568.1, CCDS41651.1	11q12-q13.1	2008-03-25				ENSG00000149516			7317	protein-coding gene	gene with protein product		606498		CD20L		7524084	Standard	NM_006138		Approved	HTM4	uc001nom.3	Q96HJ5		ENST00000278865.3:c.13G>A	11.37:g.59828646G>A	ENSP00000278865:p.Glu5Lys					MS4A3_ENST00000534744.1_Missense_Mutation_p.E5K|MS4A3_ENST00000358152.2_Missense_Mutation_p.E5K|MS4A3_ENST00000526199.1_3'UTR|MS4A3_ENST00000395032.2_Intron	p.E5K	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN			2	86	+		all_epithelial(135;0.245)	5					A8MTP8|Q8NHW2	Missense_Mutation	SNP	ENST00000278865.3	37	c.13G>A	CCDS31567.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.924139	0.34002	.	.	ENSG00000149516	ENST00000358152;ENST00000278865;ENST00000534744	T;T;T	0.39997	1.05;2.95;1.05	4.21	2.32	0.28847	.	1.939260	0.01850	N	0.035895	T	0.24774	0.0601	N	0.19112	0.55	0.09310	N	1	B;B	0.30709	0.291;0.076	B;B	0.23852	0.049;0.022	T	0.21930	-1.0231	10	0.06365	T	0.9	-17.5873	6.1563	0.20340	0.2284:0.0:0.7716:0.0	.	5;5	Q96HJ5-2;Q96HJ5	.;MS4A3_HUMAN	K	5	ENSP00000350872:E5K;ENSP00000278865:E5K;ENSP00000434117:E5K	ENSP00000278865:E5K	E	+	1	0	MS4A3	59585222	0.004000	0.15560	0.002000	0.10522	0.000000	0.00434	1.405000	0.34635	1.102000	0.41551	-0.222000	0.12452	GAA		0.483	MS4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394417.1			17	83	0	0	0	1	0	17	83				
PAH	5053	broad.mit.edu	37	12	103246626	103246626	+	Missense_Mutation	SNP	C	C	G	rs62514950		TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr12:103246626C>G	ENST00000553106.1	-	7	1281	c.809G>C	c.(808-810)aGa>aCa	p.R270T	PAH_ENST00000551988.1_5'Flank|PAH_ENST00000307000.2_Missense_Mutation_p.R265T	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	270			R -> K (in PKU).|R -> S (in PKU; haplotype 1).		catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GGATCCATGTCTGATGTACTG	0.562																																						ENST00000553106.1																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27	GRCh37	CM950892	PAH	M	rs62514950	c.(808-810)aGa>aCa		phenylalanine hydroxylase	Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)						139.0	131.0	134.0					12																	103246626		2203	4300	6503	SO:0001583	missense	5053				catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	g.chr12:103246626C>G	U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.809G>C	12.37:g.103246626C>G	ENSP00000448059:p.Arg270Thr					PAH_ENST00000307000.2_Missense_Mutation_p.R265T	p.R270T	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN			7	1281	-			270		R -> K (in PKU).|R -> S (in PKU; haplotype 1).			Q16717|Q8TC14	Missense_Mutation	SNP	ENST00000553106.1	37	c.809G>C	CCDS9092.1	.	.	.	.	.	.	.	.	.	.	C	32	5.178016	0.94846	.	.	ENSG00000171759	ENST00000553106;ENST00000307000	D;D	0.99942	-8.47;-8.47	5.73	5.73	0.89815	Aromatic amino acid hydroxylase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99963	0.9985	H	0.99197	4.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96434	0.9321	10	0.87932	D	0	-18.8704	19.8956	0.96956	0.0:1.0:0.0:0.0	.	270	P00439	PH4H_HUMAN	T	270;265	ENSP00000448059:R270T;ENSP00000303500:R265T	ENSP00000303500:R265T	R	-	2	0	PAH	101770756	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.818000	0.86416	2.708000	0.92522	0.563000	0.77884	AGA		0.562	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1			6	102	0	0	0	1	0	6	102				
MYH10	4628	broad.mit.edu	37	17	8526320	8526320	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr17:8526320G>C	ENST00000269243.4	-	2	383	c.245C>G	c.(244-246)cCt>cGt	p.P82R	MYH10_ENST00000396239.1_Missense_Mutation_p.P82R|MYH10_ENST00000360416.3_Missense_Mutation_p.P82R|MYH10_ENST00000379980.4_Missense_Mutation_p.P82R	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	82					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GGAAAACTTAGGTGGGTTCAT	0.398																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(244-246)cCt>cGt		myosin, heavy chain 10, non-muscle							212.0	201.0	205.0					17																	8526320		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8526320G>C	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.245C>G	17.37:g.8526320G>C	ENSP00000269243:p.Pro82Arg					MYH10_ENST00000379980.4_Missense_Mutation_p.P82R|MYH10_ENST00000396239.1_Missense_Mutation_p.P82R|MYH10_ENST00000269243.4_Missense_Mutation_p.P82R	p.P82R	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			2	383	-			82			Myosin head-like.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.245C>G	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.343568	0.82022	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980;ENST00000411957	T;T;D;T;T	0.95412	-0.67;-0.67;-3.7;-0.67;-0.67	4.82	4.82	0.62117	Myosin head, motor domain (1);	0.000000	0.85682	D	0.000000	D	0.98182	0.9399	M	0.91717	3.235	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99285	1.0897	10	0.87932	D	0	.	17.6889	0.88263	0.0:0.0:1.0:0.0	.	82;82;82	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	R	82	ENSP00000269243:P82R;ENSP00000353590:P82R;ENSP00000379539:P82R;ENSP00000369315:P82R;ENSP00000408220:P82R	ENSP00000269243:P82R	P	-	2	0	MYH10	8467045	1.000000	0.71417	0.978000	0.43139	0.998000	0.95712	9.539000	0.98076	2.497000	0.84241	0.561000	0.74099	CCT		0.398	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			54	132	0	0	0	1	0	54	132				
COL1A2	1278	broad.mit.edu	37	7	94057098	94057098	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr7:94057098A>C	ENST00000297268.6	+	49	3898	c.3427A>C	c.(3427-3429)Aac>Cac	p.N1143H		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1143	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				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)	GAAGTCTCTCAACAACCAGAT	0.522										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.(3427-3429)Aac>Cac		collagen, type I, alpha 2	Collagenase(DB00048)						90.0	85.0	87.0					7																	94057098		2203	4300	6503	SO:0001583	missense	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.chr7:94057098A>C	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.3427A>C	7.37:g.94057098A>C	ENSP00000297268:p.Asn1143His	HNSCC(75;0.22)					p.N1143H	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		49	3898	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		1143			Fibrillar collagen NC1.		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.3427A>C	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.947553	0.73787	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.89681	-2.55	5.51	5.51	0.81932	Fibrillar collagen, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.94241	0.8151	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.68192	0.956	D	0.94873	0.8032	10	0.72032	D	0.01	.	15.9405	0.79750	1.0:0.0:0.0:0.0	.	1143	P08123	CO1A2_HUMAN	H	1143;1144	ENSP00000297268:N1143H	ENSP00000297268:N1143H	N	+	1	0	COL1A2	93895034	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.234000	0.73211	0.459000	0.35465	AAC		0.522	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		17	46	0	0	0	1	0	17	46				
VPS54	51542	broad.mit.edu	37	2	64208797	64208797	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr2:64208797G>A	ENST00000272322.4	-	3	515	c.361C>T	c.(361-363)Caa>Taa	p.Q121*	VPS54_ENST00000409558.4_Nonsense_Mutation_p.Q109*			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	121					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						ATTTCCTGTTGATATACTGTA	0.348																																						ENST00000272322.4																			0				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(361-363)Caa>Taa		vacuolar protein sorting 54 homolog (S. cerevisiae)							129.0	126.0	127.0					2																	64208797		2203	4300	6503	SO:0001587	stop_gained	51542				protein transport|retrograde transport, endosome to Golgi			g.chr2:64208797G>A	AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 164"""	614633	"""vacuolar protein sorting 54 (yeast)"""			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.361C>T	2.37:g.64208797G>A	ENSP00000272322:p.Gln121*					VPS54_ENST00000409558.3_Nonsense_Mutation_p.Q109*	p.Q121*	NM_016516.2	NP_057600.2	Q9P1Q0	VPS54_HUMAN			3	515	-			121					Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Nonsense_Mutation	SNP	ENST00000272322.4	37	c.361C>T	CCDS33208.1	.	.	.	.	.	.	.	.	.	.	G	38	7.133329	0.98085	.	.	ENSG00000143952	ENST00000272322;ENST00000409558;ENST00000483277;ENST00000394400	.	.	.	6.16	6.16	0.99307	.	0.201890	0.49916	D	0.000139	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	13.9788	0.64291	0.0686:0.0:0.9314:0.0	.	.	.	.	X	121;109;109;121	.	ENSP00000272322:Q121X	Q	-	1	0	VPS54	64062301	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.887000	0.56197	2.937000	0.99478	0.650000	0.86243	CAA		0.348	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327062.2	NM_016516		4	98	0	0	0	1	0	4	98				
SWT1	54823	broad.mit.edu	37	1	185191077	185191077	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:185191077G>T	ENST00000367500.4	+	15	2383	c.2218G>T	c.(2218-2220)Gtt>Ttt	p.V740F	SWT1_ENST00000367501.3_Missense_Mutation_p.V740F	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	740										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						AGAAATCACTGTTTTCTCGAG	0.378																																						ENST00000367500.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						c.(2218-2220)Gtt>Ttt		SWT1 RNA endoribonuclease homolog (S. cerevisiae)							162.0	170.0	167.0					1																	185191077		2203	4300	6503	SO:0001583	missense	54823							g.chr1:185191077G>T	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.2218G>T	1.37:g.185191077G>T	ENSP00000356470:p.Val740Phe					SWT1_ENST00000367501.3_Missense_Mutation_p.V740F	p.V740F	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN			15	2383	+			740					Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	c.2218G>T	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	G	6.802	0.517031	0.13005	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.18810	2.19;2.19	5.43	-5.57	0.02521	.	1.739760	0.02610	N	0.102009	T	0.08447	0.0210	N	0.19112	0.55	0.09310	N	1	P	0.42409	0.779	B	0.31191	0.125	T	0.25882	-1.0119	10	0.34782	T	0.22	.	1.4458	0.02364	0.14:0.3638:0.2054:0.2908	.	740	Q5T5J6	SWT1_HUMAN	F	740	ENSP00000356471:V740F;ENSP00000356470:V740F	ENSP00000356470:V740F	V	+	1	0	SWT1	183457700	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.238000	0.08977	-0.667000	0.05303	0.591000	0.81541	GTT		0.378	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		24	140	1	0	7.41945e-09	1	8.06247e-09	24	140				
OIT3	170392	broad.mit.edu	37	10	74692226	74692226	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr10:74692226G>A	ENST00000334011.5	+	9	1800	c.1582G>A	c.(1582-1584)Ggt>Agt	p.G528S		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	528						nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GGACTCAGCCGGTCTACAGGG	0.637																																					Colon(7;19 345 13446 17537)	ENST00000334011.5																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35						c.(1582-1584)Ggt>Agt		oncoprotein induced transcript 3							69.0	67.0	68.0					10																	74692226		2203	4300	6503	SO:0001583	missense	170392					nuclear envelope	calcium ion binding	g.chr10:74692226G>A		CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.1582G>A	10.37:g.74692226G>A	ENSP00000333900:p.Gly528Ser						p.G528S	NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN			9	1800	+	Prostate(51;0.0198)		528					A0AVP3|Q8N1M8	Missense_Mutation	SNP	ENST00000334011.5	37	c.1582G>A	CCDS7318.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707352	0.68615	.	.	ENSG00000138315	ENST00000334011	T	0.80909	-1.43	6.06	3.17	0.36434	.	0.251265	0.27236	N	0.020295	T	0.60702	0.2289	L	0.33485	1.01	0.09310	N	1	B	0.33073	0.396	B	0.22753	0.041	T	0.48293	-0.9048	10	0.07325	T	0.83	-5.975	6.4368	0.21827	0.2525:0.293:0.4546:0.0	.	528	Q8WWZ8	OIT3_HUMAN	S	528	ENSP00000333900:G528S	ENSP00000333900:G528S	G	+	1	0	OIT3	74362232	0.016000	0.18221	0.003000	0.11579	0.649000	0.38597	2.067000	0.41461	0.906000	0.36621	-0.137000	0.14449	GGT		0.637	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635		22	82	0	0	0	1	0	22	82				
PKN2	5586	broad.mit.edu	37	1	89225962	89225962	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:89225962A>T	ENST00000370521.3	+	3	766	c.407A>T	c.(406-408)aAt>aTt	p.N136I	PKN2_ENST00000370513.5_Missense_Mutation_p.N136I|PKN2_ENST00000316005.7_Missense_Mutation_p.N136I|PKN2_ENST00000370505.3_5'UTR	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	136					apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		ACTAGCAACAATAGATTGAAG	0.313																																						ENST00000370521.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33						c.(406-408)aAt>aTt		protein kinase N2							89.0	90.0	90.0					1																	89225962		1802	4069	5871	SO:0001583	missense	5586				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	g.chr1:89225962A>T	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.407A>T	1.37:g.89225962A>T	ENSP00000359552:p.Asn136Ile					PKN2_ENST00000370513.5_Missense_Mutation_p.N136I|PKN2_ENST00000370505.3_5'UTR|PKN2_ENST00000316005.7_Missense_Mutation_p.N136I	p.N136I	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0301)	3	766	+		Lung NSC(277;0.123)	136					B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	ENST00000370521.3	37	c.407A>T	CCDS714.1	.	.	.	.	.	.	.	.	.	.	A	12.67	2.006290	0.35415	.	.	ENSG00000065243	ENST00000370521;ENST00000316005;ENST00000370513	T;T;T	0.17370	2.28;2.28;2.28	4.5	4.5	0.54988	.	0.000000	0.47852	U	0.000208	T	0.10766	0.0263	L	0.40543	1.245	0.80722	D	1	B;B;B;P	0.48911	0.011;0.003;0.009;0.917	B;B;B;P	0.49226	0.022;0.01;0.017;0.603	T	0.02698	-1.1122	10	0.51188	T	0.08	.	8.8032	0.34920	0.9147:0.0:0.0853:0.0	.	136;136;136;136	B4DTP5;E7ESL7;Q16513;B1AL79	.;.;PKN2_HUMAN;.	I	136	ENSP00000359552:N136I;ENSP00000317851:N136I;ENSP00000359544:N136I	ENSP00000317851:N136I	N	+	2	0	PKN2	88998550	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.607000	0.46300	1.802000	0.52723	0.482000	0.46254	AAT		0.313	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256		15	71	0	0	0	1	0	15	71				
VAMP5	10791	broad.mit.edu	37	2	85818955	85818955	+	Silent	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr2:85818955G>A	ENST00000306384.4	+	2	194	c.111G>A	c.(109-111)ctG>ctA	p.L37L		NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN	vesicle-associated membrane protein 5	37	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				cell differentiation (GO:0030154)|Golgi to plasma membrane protein transport (GO:0043001)|muscle organ development (GO:0007517)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|large_intestine(3)|lung(1)	5						TGGCCGAACTGCAGCAGCGTT	0.577																																						ENST00000306384.4																			0				NS(1)|large_intestine(3)|lung(1)	5						c.(109-111)ctG>ctA		vesicle-associated membrane protein 5							150.0	132.0	138.0					2																	85818955		2203	4300	6503	SO:0001819	synonymous_variant	10791				cell differentiation|vesicle-mediated transport	endomembrane system		g.chr2:85818955G>A	AF054825	CCDS1980.1	2p11.2	2013-02-13	2012-10-17		ENSG00000168899	ENSG00000168899		"""Vesicle-associated membrane proteins"""	12646	protein-coding gene	gene with protein product	"""myobrevin"""	607029				9725904	Standard	NM_006634		Approved		uc002spu.1	O95183	OTTHUMG00000130169	ENST00000306384.4:c.111G>A	2.37:g.85818955G>A							p.L37L	NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN			2	194	+			37			v-SNARE coiled-coil homology.		Q9P0T2	Silent	SNP	ENST00000306384.4	37	c.111G>A	CCDS1980.1																																																																																				0.577	VAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252484.2	NM_006634		28	151	0	0	0	1	0	28	151				
KCNJ3	3760	broad.mit.edu	37	2	155711289	155711289	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr2:155711289G>T	ENST00000295101.2	+	3	1447	c.970G>T	c.(970-972)Ggt>Tgt	p.G324C	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	324					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AGTTCTTTGGGGTCATCGTTT	0.383																																						ENST00000295101.2																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54						c.(970-972)Ggt>Tgt		potassium inwardly-rectifying channel, subfamily J, member 3	Halothane(DB01159)						130.0	132.0	132.0					2																	155711289		2203	4300	6503	SO:0001583	missense	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155711289G>T	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.970G>T	2.37:g.155711289G>T	ENSP00000295101:p.Gly324Cys					KCNJ3_ENST00000544049.1_3'UTR|KCNJ3_ENST00000493505.1_3'UTR	p.G324C	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN			3	1447	+			324					B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	c.970G>T	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010892	0.75046	.	.	ENSG00000162989	ENST00000295101	D	0.97976	-4.64	5.7	5.7	0.88788	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.99287	0.9751	H	0.97491	4.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98802	1.0740	10	0.87932	D	0	.	18.8359	0.92162	0.0:0.0:1.0:0.0	.	324	P48549	IRK3_HUMAN	C	324	ENSP00000295101:G324C	ENSP00000295101:G324C	G	+	1	0	KCNJ3	155419535	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.704000	0.92352	0.650000	0.86243	GGT		0.383	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		14	54	1	0	2.32078e-09	1	2.57339e-09	14	54				
CPN1	1369	broad.mit.edu	37	10	101816848	101816848	+	Silent	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr10:101816848G>A	ENST00000370418.3	-	6	1184	c.933C>T	c.(931-933)tgC>tgT	p.C311C		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	311	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		GAAACTTGTCGCAACTCAGTT	0.478																																						ENST00000370418.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33						c.(931-933)tgC>tgT		carboxypeptidase N, polypeptide 1							207.0	204.0	205.0					10																	101816848		2203	4300	6503	SO:0001819	synonymous_variant	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101816848G>A	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.933C>T	10.37:g.101816848G>A							p.C311C	NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	6	1184	-		Colorectal(252;0.234)	311			Catalytic.		B1AP59	Silent	SNP	ENST00000370418.3	37	c.933C>T	CCDS7486.1																																																																																				0.478	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		8	317	0	0	0	1	0	8	317				
HYI	81888	broad.mit.edu	37	1	43917513	43917513	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:43917513C>T	ENST00000372425.4	-	5	706	c.511G>A	c.(511-513)Gcc>Acc	p.A171T	HYI_ENST00000372426.1_Missense_Mutation_p.A123T|HYI_ENST00000486909.1_Missense_Mutation_p.A171T|HYI-AS1_ENST00000444386.1_RNA|SZT2_ENST00000562955.1_3'UTR|HYI_ENST00000372434.1_Missense_Mutation_p.A196T|HYI_ENST00000372432.1_Missense_Mutation_p.A171T|SZT2_ENST00000372442.1_3'UTR|HYI_ENST00000583037.1_Missense_Mutation_p.A98T			Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)	171							hydroxypyruvate isomerase activity (GO:0008903)			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGTAAGATGGCTGCCGCTGTA	0.582																																						ENST00000583037.1																			0				large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6						c.(292-294)Gcc>Acc		hydroxypyruvate isomerase (putative)							45.0	51.0	49.0					1																	43917513		2203	4300	6503	SO:0001583	missense	81888						hydroxypyruvate isomerase activity	g.chr1:43917513C>T		CCDS488.1, CCDS488.2, CCDS53309.1, CCDS72771.1	1p34.2	2010-06-24	2010-06-24		ENSG00000178922	ENSG00000178922	5.3.1.22		26948	protein-coding gene	gene with protein product			"""hydroxypyruvate isomerase homolog (E. coli)"""			10561547	Standard	NM_031207		Approved	HT036	uc001cjo.3	Q5T013	OTTHUMG00000007502	ENST00000372425.4:c.511G>A	1.37:g.43917513C>T	ENSP00000361502:p.Ala171Thr					HYI_ENST00000372434.1_Missense_Mutation_p.A196T|SZT2_ENST00000562955.1_3'UTR|SZT2_ENST00000372442.1_3'UTR|HYI_ENST00000486909.1_Missense_Mutation_p.A171T|HYI_ENST00000372425.4_Missense_Mutation_p.A171T|HYI_ENST00000372426.1_Missense_Mutation_p.A123T|HYI_ENST00000372432.1_Missense_Mutation_p.A171T	p.A98T	NM_001190880.2	NP_001177809.1	Q5T013	HYI_HUMAN			5	706	-	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	171					D3DPX4|D3DPX5|Q5Q9A2|Q7Z778|Q96S83|Q9BZR3|Q9BZR4	Missense_Mutation	SNP	ENST00000372425.4	37	c.292G>A	CCDS53309.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284956	0.59867	.	.	ENSG00000178922	ENST00000372425;ENST00000372433;ENST00000372434;ENST00000372430;ENST00000372432;ENST00000372427;ENST00000372426;ENST00000486909	T;T;T;T;T;T;T	0.54866	0.85;0.88;0.75;0.55;0.85;0.85;0.85	5.48	5.48	0.80851	Xylose isomerase-like, TIM barrel domain (2);Xylose isomerase, TIM barrel domain (1);	0.221960	0.45606	D	0.000345	T	0.52224	0.1721	M	0.64630	1.985	0.38240	D	0.941303	B	0.20052	0.041	B	0.24155	0.051	T	0.53180	-0.8475	10	0.44086	T	0.13	.	14.5562	0.68101	0.1463:0.8537:0.0:0.0	.	171	Q5T013	HYI_HUMAN	T	171;89;123;98;171;104;123;171	ENSP00000361502:A171T;ENSP00000361510:A89T;ENSP00000361511:A123T;ENSP00000361507:A98T;ENSP00000361509:A171T;ENSP00000361503:A123T;ENSP00000428399:A171T	ENSP00000361502:A171T	A	-	1	0	HYI	43690100	0.996000	0.38824	1.000000	0.80357	0.946000	0.59487	3.138000	0.50570	2.747000	0.94245	0.462000	0.41574	GCC		0.582	HYI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031207		3	38	0	0	0	1	0	3	38				
OR5I1	10798	broad.mit.edu	37	11	55703423	55703423	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:55703423G>A	ENST00000301532.3	-	1	453	c.454C>T	c.(454-456)Ctt>Ttt	p.L152F		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	152					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTGCCTCCAAGGTATGACAAG	0.428																																						ENST00000301532.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(454-456)Ctt>Ttt		olfactory receptor, family 5, subfamily I, member 1							90.0	92.0	91.0					11																	55703423		2201	4296	6497	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703423G>A	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.454C>T	11.37:g.55703423G>A	ENSP00000301532:p.Leu152Phe						p.L152F	NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN			1	453	-			152					Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.454C>T	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	G	0.197	-1.048537	0.01981	.	.	ENSG00000167825	ENST00000301532	T	0.41758	0.99	4.94	-9.88	0.00467	GPCR, rhodopsin-like superfamily (1);	1.269310	0.05626	N	0.580901	T	0.25680	0.0625	L	0.43598	1.365	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11251	-1.0595	10	0.35671	T	0.21	.	2.5631	0.04777	0.2712:0.3845:0.1704:0.174	.	152	Q13606	OR5I1_HUMAN	F	152	ENSP00000301532:L152F	ENSP00000301532:L152F	L	-	1	0	OR5I1	55459999	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-7.755000	0.00030	-3.548000	0.00143	-1.266000	0.01441	CTT		0.428	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		9	69	0	0	0	1	0	9	69				
KIF3B	9371	broad.mit.edu	37	20	30898400	30898400	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr20:30898400G>A	ENST00000375712.3	+	2	987	c.820G>A	c.(820-822)Gct>Act	p.A274T	KIF3B_ENST00000418717.2_5'UTR	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	274	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|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)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTCCCTTTCCGCTTTGGGTAA	0.507																																						ENST00000375712.3																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(820-822)Gct>Act		kinesin family member 3B							91.0	86.0	88.0					20																	30898400		2203	4300	6503	SO:0001583	missense	9371				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	g.chr20:30898400G>A	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.820G>A	20.37:g.30898400G>A	ENSP00000364864:p.Ala274Thr					KIF3B_ENST00000418717.2_5'UTR	p.A274T	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	987	+			274			Kinesin-motor.		B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	ENST00000375712.3	37	c.820G>A	CCDS13200.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246218	0.80024	.	.	ENSG00000101350	ENST00000375712	T	0.75154	-0.91	4.52	4.52	0.55395	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	T	0.75102	0.3804	N	0.21194	0.64	0.80722	D	1	P;D	0.69078	0.682;0.997	B;P	0.61070	0.184;0.883	T	0.73936	-0.3825	10	0.29301	T	0.29	.	17.4488	0.87586	0.0:0.0:1.0:0.0	.	274;274	B4DYF2;O15066	.;KIF3B_HUMAN	T	274	ENSP00000364864:A274T	ENSP00000364864:A274T	A	+	1	0	KIF3B	30362061	1.000000	0.71417	0.968000	0.41197	0.795000	0.44927	9.657000	0.98554	2.336000	0.79503	0.462000	0.41574	GCT		0.507	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		4	52	0	0	0	1	0	4	52				
TMEM132D	121256	broad.mit.edu	37	12	129822330	129822330	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr12:129822330A>G	ENST00000422113.2	-	4	1474	c.1148T>C	c.(1147-1149)aTc>aCc	p.I383T		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	383					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTCCACATCGATCTGCATGAC	0.587																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(1147-1149)aTc>aCc		transmembrane protein 132D							117.0	107.0	111.0					12																	129822330		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129822330A>G	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1148T>C	12.37:g.129822330A>G	ENSP00000408581:p.Ile383Thr						p.I383T	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	4	1474	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	383					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.1148T>C	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	A	10.65	1.409254	0.25378	.	.	ENSG00000151952	ENST00000422113	T	0.14640	2.49	5.31	5.31	0.75309	.	0.424664	0.21430	N	0.074666	T	0.28699	0.0711	L	0.56769	1.78	0.27533	N	0.951049	D	0.54207	0.965	P	0.58077	0.832	T	0.05484	-1.0882	9	.	.	.	-15.8238	13.8833	0.63693	1.0:0.0:0.0:0.0	.	383	Q14C87	T132D_HUMAN	T	383	ENSP00000408581:I383T	.	I	-	2	0	TMEM132D	128388283	0.997000	0.39634	0.723000	0.30687	0.040000	0.13550	6.120000	0.71596	2.006000	0.58801	0.529000	0.55759	ATC		0.587	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		28	147	0	0	0	1	0	28	147				
KCTD19	146212	broad.mit.edu	37	16	67338385	67338385	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr16:67338385C>T	ENST00000304372.5	-	3	445	c.390G>A	c.(388-390)tgG>tgA	p.W130*	KCTD19_ENST00000562860.1_Intron	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	130					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TCCATGTACGCCAGTAGTTCA	0.478																																						ENST00000304372.5																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(388-390)tgG>tgA		potassium channel tetramerization domain containing 19							167.0	163.0	164.0					16																	67338385		1972	4157	6129	SO:0001587	stop_gained	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67338385C>T	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.390G>A	16.37:g.67338385C>T	ENSP00000305702:p.Trp130*					KCTD19_ENST00000562860.1_Intron	p.W130*	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	3	445	-		Ovarian(137;0.192)	130					B4DZ49|Q8N804	Nonsense_Mutation	SNP	ENST00000304372.5	37	c.390G>A	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	C	8.631	0.893643	0.17613	.	.	ENSG00000168676	ENST00000304372	.	.	.	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.4773	16.7042	0.85367	0.0:1.0:0.0:0.0	.	.	.	.	X	130	.	ENSP00000305702:W130X	W	-	3	0	KCTD19	65895886	1.000000	0.71417	0.999000	0.59377	0.025000	0.11179	5.063000	0.64332	2.720000	0.93068	0.591000	0.81541	TGG		0.478	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		16	88	0	0	0	1	0	16	88				
TNKS1BP1	85456	broad.mit.edu	37	11	57069412	57069412	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	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		13	85	0	0	0	1	0	13	85				
SSSCA1	10534	broad.mit.edu	37	11	65338137	65338137	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:65338137C>T	ENST00000309328.3	+	2	144	c.82C>T	c.(82-84)Cgg>Tgg	p.R28W	SSSCA1-AS1_ENST00000567594.1_RNA|FAM89B_ENST00000530349.1_5'Flank|SSSCA1_ENST00000527920.1_5'UTR|FAM89B_ENST00000449319.2_5'Flank|SSSCA1_ENST00000526877.1_Missense_Mutation_p.R28W|FAM89B_ENST00000316409.2_5'Flank|SSSCA1_ENST00000531405.1_5'UTR	NM_006396.1	NP_006387.1	O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	28					mitotic nuclear division (GO:0007067)					kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						GCAGGCGCGACGGGAGCGGCA	0.667																																						ENST00000526877.1																			0				kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						c.(82-84)Cgg>Tgg		Sjogren syndrome/scleroderma autoantigen 1							32.0	37.0	35.0					11																	65338137		2201	4297	6498	SO:0001583	missense	10534				cell division|mitosis		protein binding	g.chr11:65338137C>T	AB001740	CCDS8104.1	11q13.1	2007-10-04	2007-10-04			ENSG00000173465			11328	protein-coding gene	gene with protein product		606044	"""Sjogren's syndrome/scleroderma autoantigen 1"""			9486406	Standard	NM_006396		Approved	p27	uc001oek.3	O60232		ENST00000309328.3:c.82C>T	11.37:g.65338137C>T	ENSP00000312318:p.Arg28Trp					SSSCA1_ENST00000531405.1_5'UTR|SSSCA1_ENST00000527920.1_5'UTR|SSSCA1_ENST00000309328.3_Missense_Mutation_p.R28W	p.R28W			O60232	SSA27_HUMAN			2	87	+			28						Missense_Mutation	SNP	ENST00000309328.3	37	c.82C>T	CCDS8104.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468803	0.84533	.	.	ENSG00000173465	ENST00000309328;ENST00000526877;ENST00000533115	T;T;T	0.58358	0.66;0.34;0.64	5.64	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.69940	0.3167	M	0.66939	2.045	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.73579	-0.3938	10	0.87932	D	0	-19.9735	13.7959	0.63171	0.1545:0.8455:0.0:0.0	.	28	O60232	SSA27_HUMAN	W	28;28;22	ENSP00000312318:R28W;ENSP00000431666:R28W;ENSP00000435432:R22W	ENSP00000312318:R28W	R	+	1	2	SSSCA1	65094713	0.975000	0.34042	0.948000	0.38648	0.906000	0.53458	1.605000	0.36815	1.363000	0.46019	0.555000	0.69702	CGG		0.667	SSSCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389511.1	NM_006396		9	47	0	0	0	1	0	9	47				
ACBD4	79777	broad.mit.edu	37	17	43214804	43214804	+	Missense_Mutation	SNP	C	C	T	rs377135057	byFrequency	TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr17:43214804C>T	ENST00000376955.4	+	6	782	c.485C>T	c.(484-486)cCg>cTg	p.P162L	ACBD4_ENST00000591136.1_3'UTR|ACBD4_ENST00000321854.8_Missense_Mutation_p.P162L|ACBD4_ENST00000431281.1_Missense_Mutation_p.P162L|ACBD4_ENST00000398322.3_Missense_Mutation_p.P162L|ACBD4_ENST00000591859.1_Missense_Mutation_p.P162L|ACBD4_ENST00000586346.1_Missense_Mutation_p.P162L|ACBD4_ENST00000592162.1_Missense_Mutation_p.P162L	NM_001135707.1	NP_001129179.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	162							fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			kidney(1)|lung(3)|ovary(1)	5						CCCAAGGAACCGGCACCCCCA	0.627													c|||	5	0.000998403	0.0	0.0	5008	,	,		14348	0.0		0.0	False		,,,				2504	0.0051					ENST00000431281.1																			0				kidney(1)|lung(3)|ovary(1)	5						c.(484-486)cCg>cTg		acyl-CoA binding domain containing 4		T	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	0,3892		0,0,1946	53.0	55.0	54.0		485,485,485,485,485	-1.2	0.1	17		54	1,8235		0,1,4117	no	missense,missense,missense,missense,missense	ACBD4	NM_024722.2,NM_001135704.1,NM_001135707.1,NM_001135706.1,NM_001135705.1	98,98,98,98,98	0,1,6063	TT,TC,CC		0.0121,0.0,0.0082	benign,benign,benign,benign,benign	162/306,162/342,162/269,162/342,162/306	43214804	1,12127	1946	4118	6064	SO:0001583	missense	79777						fatty-acyl-CoA binding	g.chr17:43214804C>T	BC029164	CCDS42348.1, CCDS45710.1, CCDS45711.1	17q21.31	2012-10-02	2010-04-30		ENSG00000181513	ENSG00000181513			23337	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 4"""				Standard	NM_001135704		Approved	FLJ13322	uc002iie.3	Q8NC06	OTTHUMG00000180111	ENST00000376955.4:c.485C>T	17.37:g.43214804C>T	ENSP00000366154:p.Pro162Leu					ACBD4_ENST00000591136.1_3'UTR|ACBD4_ENST00000592162.1_Missense_Mutation_p.P162L|ACBD4_ENST00000591859.1_Missense_Mutation_p.P162L|ACBD4_ENST00000586346.1_Missense_Mutation_p.P162L|ACBD4_ENST00000376955.4_Missense_Mutation_p.P162L|ACBD4_ENST00000321854.8_Missense_Mutation_p.P162L|ACBD4_ENST00000398322.3_Missense_Mutation_p.P162L	p.P162L	NM_001135704.1	NP_001129176.1	Q8NC06	ACBD4_HUMAN			8	954	+			162					D3DX64|Q8IUT1|Q9H8Q4	Missense_Mutation	SNP	ENST00000376955.4	37	c.485C>T	CCDS45711.1	.	.	.	.	.	.	.	.	.	.	c	2.953	-0.216344	0.06101	0.0	1.21E-4	ENSG00000181513	ENST00000431281;ENST00000321854;ENST00000398322;ENST00000376955	T;T;T;T	0.17213	2.29;2.66;2.66;2.32	4.27	-1.24	0.09435	.	0.778995	0.12085	N	0.500967	T	0.14874	0.0359	L	0.53249	1.67	0.09310	N	0.999995	B;B;B	0.14438	0.01;0.006;0.009	B;B;B	0.10450	0.005;0.003;0.003	T	0.25916	-1.0118	10	0.46703	T	0.11	.	7.2701	0.26252	0.0:0.48:0.0:0.52	.	162;162;162	Q8NC06-3;Q8NC06;Q8NC06-2	.;ACBD4_HUMAN;.	L	162	ENSP00000405969:P162L;ENSP00000314440:P162L;ENSP00000381367:P162L;ENSP00000366154:P162L	ENSP00000314440:P162L	P	+	2	0	ACBD4	40570330	0.000000	0.05858	0.078000	0.20375	0.337000	0.28794	-0.132000	0.10467	-0.062000	0.13088	-1.027000	0.02421	CCG		0.627	ACBD4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000449816.1	NM_024722		8	68	0	0	0	1	0	8	68				
SENP6	26054	broad.mit.edu	37	6	76372993	76372993	+	Silent	SNP	A	A	G			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr6:76372993A>G	ENST00000447266.2	+	9	1231	c.753A>G	c.(751-753)ttA>ttG	p.L251L	SENP6_ENST00000370010.2_Silent_p.L244L|SENP6_ENST00000327284.8_Silent_p.L244L|SENP6_ENST00000370014.3_Silent_p.L251L	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	251					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				CTGGACCATTATTAAGAACGT	0.358																																						ENST00000370014.3																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(751-753)ttA>ttG		SUMO1/sentrin specific peptidase 6							102.0	97.0	98.0					6																	76372993		1836	4087	5923	SO:0001819	synonymous_variant	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76372993A>G		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.753A>G	6.37:g.76372993A>G						SENP6_ENST00000447266.2_Silent_p.L251L|SENP6_ENST00000327284.8_Silent_p.L244L|SENP6_ENST00000370010.2_Silent_p.L244L	p.L251L	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN			9	1372	+		all_hematologic(105;0.189)	251					A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Silent	SNP	ENST00000447266.2	37	c.753A>G	CCDS47454.1																																																																																				0.358	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		20	55	0	0	0	1	0	20	55				
SLC25A2	83884	broad.mit.edu	37	5	140683196	140683196	+	Silent	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr5:140683196C>T	ENST00000239451.4	-	1	416	c.237G>A	c.(235-237)tcG>tcA	p.S79S		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	79					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	TGAAGAGGACCGAGTTTTCGG	0.592																																						ENST00000239451.4																			0				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(235-237)tcG>tcA		solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	L-Ornithine(DB00129)						87.0	87.0	87.0					5																	140683196		2203	4300	6503	SO:0001819	synonymous_variant	83884				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	g.chr5:140683196C>T	AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"""Solute carriers"""	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.237G>A	5.37:g.140683196C>T							p.S79S	NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	1	416	-		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	79					Q496C1|Q6XUI0|Q8NFZ2	Silent	SNP	ENST00000239451.4	37	c.237G>A	CCDS4258.1																																																																																				0.592	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251799.2	NM_031947		44	65	0	0	0	1	0	44	65				
ABCD4	5826	broad.mit.edu	37	14	74766971	74766971	+	Splice_Site	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr14:74766971C>T	ENST00000356924.4	-	2	182	c.39G>A	c.(37-39)agG>agA	p.R13R	ABCD4_ENST00000557588.1_Splice_Site_p.R13R|ABCD4_ENST00000557554.1_5'UTR|ABCD4_ENST00000298816.7_Intron	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	13					cobalamin metabolic process (GO:0009235)|transmembrane transport (GO:0055085)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		CTAACCTGGGCCTGAAGAGAA	0.458																																						ENST00000356924.4																			0				cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.e2-1		ATP-binding cassette, sub-family D (ALD), member 4							59.0	57.0	58.0					14																	74766971		2203	4300	6503	SO:0001630	splice_region_variant	5826					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr14:74766971C>T	AF009746	CCDS9828.1	14q24	2012-03-14			ENSG00000119688	ENSG00000119688		"""ATP binding cassette transporters / subfamily D"""	68	protein-coding gene	gene with protein product		603214		PXMP1L		9266848, 9302272	Standard	NR_003256		Approved	PMP69, P70R, EST352188	uc001xpr.2	O14678	OTTHUMG00000171207	ENST00000356924.4:c.39-1G>A	14.37:g.74766971C>T						ABCD4_ENST00000298816.7_Intron|ABCD4_ENST00000557588.1_Splice_Site_p.R13_splice|ABCD4_ENST00000557554.1_5'UTR	p.R13_splice	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00153)	2	182	-			13					A8K5L7|Q6IAQ0|Q96E75	Splice_Site	SNP	ENST00000356924.4	37	c.38_splice	CCDS9828.1																																																																																				0.458	ABCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314382.1	NM_005050	Silent	13	65	0	0	0	1	0	13	65				
OR2C3	81472	broad.mit.edu	37	1	247695767	247695767	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:247695767A>T	ENST00000366487.3	-	2	408	c.47T>A	c.(46-48)cTg>cAg	p.L16Q	GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	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)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-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)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GGAGAAGCCCAGGAGGACAAA	0.488																																						ENST00000366487.3																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43						c.(46-48)cTg>cAg		olfactory receptor, family 2, subfamily C, member 3							68.0	64.0	66.0					1																	247695767		2203	4300	6503	SO:0001583	missense	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247695767A>T	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.47T>A	1.37:g.247695767A>T	ENSP00000355443:p.Leu16Gln					GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366491.2_Intron	p.L16Q	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	408	-	all_cancers(71;4.51e-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)	all_cancers(173;0.0242)	16					Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	ENST00000366487.3	37	c.47T>A	CCDS1634.2	.	.	.	.	.	.	.	.	.	.	A	17.03	3.284385	0.59867	.	.	ENSG00000196242	ENST00000366487	T	0.01015	5.44	4.05	2.92	0.33932	.	0.292074	0.18163	U	0.149719	T	0.03136	0.0092	M	0.85299	2.745	0.21897	N	0.999489	D	0.54601	0.967	P	0.52710	0.707	T	0.28267	-1.0049	10	0.87932	D	0	.	6.1872	0.20503	0.8846:0.0:0.1154:0.0	.	16	Q8N628	OR2C3_HUMAN	Q	16	ENSP00000355443:L16Q	ENSP00000355443:L16Q	L	-	2	0	OR2C3	245762390	0.002000	0.14202	0.926000	0.36857	0.932000	0.56968	1.658000	0.37376	0.726000	0.32339	0.533000	0.62120	CTG		0.488	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		16	56	0	0	0	1	0	16	56				
PCDHB3	56132	broad.mit.edu	37	5	140480521	140480521	+	Silent	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr5:140480521C>T	ENST00000231130.2	+	1	288	c.288C>T	c.(286-288)tgC>tgT	p.C96C	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	96	Cadherin 1. {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)	p.C96C(1)		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)			AGGAGCTATGCGGCCCCACAG	0.448																																						ENST00000231130.2																			1	Substitution - coding silent(1)	p.C96C(1)	urinary_tract(1)	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.(286-288)tgC>tgT									86.0	92.0	90.0					5																	140480521		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.chr5:140480521C>T	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.288C>T	5.37:g.140480521C>T						AC005754.7_ENST00000607216.1_RNA	p.C96C	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	288	+			96			Cadherin 1.		B2R8P2	Silent	SNP	ENST00000231130.2	37	c.288C>T	CCDS4245.1																																																																																				0.448	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		4	200	0	0	0	1	0	4	200				
HUWE1	10075	broad.mit.edu	37	X	53620323	53620323	+	Splice_Site	SNP	C	C	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chrX:53620323C>A	ENST00000342160.3	-	31	4199		c.e31+1		HUWE1_ENST00000218328.8_Splice_Site|HUWE1_ENST00000262854.6_Splice_Site			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase						base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGAATACTCACTTTCTGAGTT	0.423																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.e31+1		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							45.0	40.0	41.0					X																	53620323		2203	4300	6503	SO:0001630	splice_region_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53620323C>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.3741+1G>T	X.37:g.53620323C>A						HUWE1_ENST00000262854.6_Splice_Site|HUWE1_ENST00000218328.8_Splice_Site				Q7Z6Z7	HUWE1_HUMAN			31	4199	-								O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Splice_Site	SNP	ENST00000342160.3	37		CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.137279	0.77775	.	.	ENSG00000086758	ENST00000342160;ENST00000427052;ENST00000262854;ENST00000218328	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0514	0.86519	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HUWE1	53637048	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.545000	0.82128	2.290000	0.77057	0.436000	0.28706	.		0.423	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	Intron	6	19	1	0	8.12818e-05	1	8.60321e-05	6	19				
MUC16	94025	broad.mit.edu	37	19	9063043	9063043	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr19:9063043C>A	ENST00000397910.4	-	3	24606	c.24403G>T	c.(24403-24405)Gcc>Tcc	p.A8135S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8137	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						ATCTCTGTGGCTAAGCTGGTC	0.527																																						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.(24403-24405)Gcc>Tcc		mucin 16, cell surface associated							124.0	121.0	122.0					19																	9063043		2003	4176	6179	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9063043C>A	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.24403G>T	19.37:g.9063043C>A	ENSP00000381008:p.Ala8135Ser						p.A8135S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	24606	-			8137			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.24403G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	7.487	0.649933	0.14516	.	.	ENSG00000181143	ENST00000397910	T	0.02631	4.22	3.09	-2.92	0.05615	.	.	.	.	.	T	0.01800	0.0057	N	0.08118	0	.	.	.	B	0.32245	0.361	B	0.38156	0.266	T	0.46317	-0.9200	8	0.87932	D	0	.	3.5202	0.07739	0.1964:0.2394:0.0:0.5643	.	8135	B5ME49	.	S	8135	ENSP00000381008:A8135S	ENSP00000381008:A8135S	A	-	1	0	MUC16	8924043	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.200000	0.03029	-0.580000	0.05944	0.508000	0.49915	GCC		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		16	98	1	0	1.45105e-14	1	1.66564e-14	16	98				
CASQ2	845	broad.mit.edu	37	1	116287494	116287494	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:116287494C>T	ENST00000261448.5	-	2	513	c.274G>A	c.(274-276)Gtg>Atg	p.V92M	CASQ2_ENST00000456138.2_Missense_Mutation_p.V92M	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	92					cardiac muscle contraction (GO:0060048)|cellular response to caffeine (GO:0071313)|detection of calcium ion (GO:0005513)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|protein polymerization (GO:0051258)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of heart rate (GO:0002027)|regulation of membrane repolarization (GO:0060306)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|sequestering of calcium ion (GO:0051208)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|junctional sarcoplasmic reticulum membrane (GO:0014701)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TCCACCATCACAAAGCCTATA	0.413																																						ENST00000261448.5																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18						c.(274-276)Gtg>Atg		calsequestrin 2 (cardiac muscle)							107.0	95.0	99.0					1																	116287494		2203	4300	6503	SO:0001583	missense	845				heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr1:116287494C>T	BC022288	CCDS884.1	1p13.1	2014-09-17			ENSG00000118729	ENSG00000118729		"""Protein disulfide isomerases"""	1513	protein-coding gene	gene with protein product		114251				8406504	Standard	NM_001232		Approved	PDIB2	uc001efx.4	O14958	OTTHUMG00000011970	ENST00000261448.5:c.274G>A	1.37:g.116287494C>T	ENSP00000261448:p.Val92Met					CASQ2_ENST00000456138.2_Missense_Mutation_p.V92M	p.V92M	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	2	513	-	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)	92					B2R7M6|B4DIB0|Q5T1D2|Q8TBW8	Missense_Mutation	SNP	ENST00000261448.5	37	c.274G>A	CCDS884.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493203	0.64186	.	.	ENSG00000118729	ENST00000261448;ENST00000456138;ENST00000446755	T;T	0.43294	0.95;0.95	5.35	4.44	0.53790	Thioredoxin-like fold (2);	0.175969	0.49305	D	0.000159	T	0.24890	0.0604	N	0.14661	0.345	0.22001	N	0.999422	B;P	0.52842	0.001;0.956	B;P	0.56278	0.016;0.795	T	0.10064	-1.0646	10	0.87932	D	0	-12.7564	11.127	0.48324	0.0:0.9131:0.0:0.0869	.	92;92	B4DIB0;O14958	.;CASQ2_HUMAN	M	92	ENSP00000261448:V92M;ENSP00000403858:V92M	ENSP00000261448:V92M	V	-	1	0	CASQ2	116089017	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.658000	0.61497	1.253000	0.44018	0.655000	0.94253	GTG		0.413	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033091.1	NM_001232		3	15	0	0	0	1	0	3	15				
ARHGEF6	9459	broad.mit.edu	37	X	135814307	135814307	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chrX:135814307A>G	ENST00000250617.6	-	6	1891	c.686T>C	c.(685-687)gTc>gCc	p.V229A	ARHGEF6_ENST00000370622.1_Missense_Mutation_p.V75A|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.V75A|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.V102A	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	229					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					AAATCCTTTGACGGCTTTTGG	0.328																																						ENST00000250617.6																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38						c.(685-687)gTc>gCc		Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6							41.0	35.0	37.0					X																	135814307		2203	4299	6502	SO:0001583	missense	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135814307A>G	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.686T>C	X.37:g.135814307A>G	ENSP00000250617:p.Val229Ala					ARHGEF6_ENST00000370620.1_Missense_Mutation_p.V75A|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.V75A|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.V102A	p.V229A	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN			6	1891	-	Acute lymphoblastic leukemia(192;0.000127)		229					A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	37	c.686T>C	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	A	7.761	0.705335	0.15172	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.28069	1.63;1.63;1.63;2.39	5.34	2.86	0.33363	Src homology-3 domain (1);Dbl homology (DH) domain (1);	0.620697	0.15842	N	0.241985	T	0.22085	0.0532	L	0.48642	1.525	0.21675	N	0.999593	B;B	0.09022	0.0;0.002	B;B	0.09377	0.002;0.004	T	0.36986	-0.9725	10	0.05721	T	0.95	.	9.7251	0.40326	0.669:0.331:0.0:0.0	.	102;229	B7Z3C7;Q15052	.;ARHG6_HUMAN	A	229;75;75;75;102	ENSP00000250617:V229A;ENSP00000359654:V75A;ENSP00000359656:V75A;ENSP00000439483:V102A	ENSP00000250617:V229A	V	-	2	0	ARHGEF6	135641973	1.000000	0.71417	0.998000	0.56505	0.529000	0.34654	2.272000	0.43373	0.182000	0.20032	0.235000	0.17854	GTC		0.328	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		5	7	0	0	0	1	0	5	7				
YTHDC2	64848	broad.mit.edu	37	5	112878079	112878079	+	Silent	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr5:112878079G>A	ENST00000161863.4	+	10	1587	c.1374G>A	c.(1372-1374)gtG>gtA	p.V458V	YTHDC2_ENST00000515883.1_Silent_p.V458V	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	458					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AAAAAGATGTGAATTGCCTTG	0.338																																						ENST00000161863.4																			0				NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1372-1374)gtG>gtA		YTH domain containing 2							164.0	164.0	164.0					5																	112878079		2202	4297	6499	SO:0001819	synonymous_variant	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112878079G>A	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.1374G>A	5.37:g.112878079G>A						YTHDC2_ENST00000515883.1_Silent_p.V458V	p.V458V	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	10	1587	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	458					B2RP66	Silent	SNP	ENST00000161863.4	37	c.1374G>A	CCDS4113.1																																																																																				0.338	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		39	69	0	0	0	1	0	39	69				
ZNF804B	219578	broad.mit.edu	37	7	88965122	88965122	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr7:88965122T>A	ENST00000333190.4	+	4	3435	c.2826T>A	c.(2824-2826)agT>agA	p.S942R		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	942							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AACAATCAAGTAATGTTGAGA	0.408										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(2824-2826)agT>agA		zinc finger protein 804B							119.0	125.0	123.0					7																	88965122		2202	4300	6502	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88965122T>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2826T>A	7.37:g.88965122T>A	ENSP00000329638:p.Ser942Arg	HNSCC(36;0.09)					p.S942R	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	3435	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		942					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.2826T>A	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	T	5.399	0.258771	0.10239	.	.	ENSG00000182348	ENST00000333190	T	0.05081	3.5	5.04	-3.71	0.04424	.	0.809695	0.11395	N	0.568414	T	0.02119	0.0066	N	0.14661	0.345	0.09310	N	1	B	0.31519	0.327	B	0.20767	0.031	T	0.44757	-0.9307	10	0.18710	T	0.47	-2.714	0.3688	0.00376	0.2371:0.2016:0.2803:0.2811	.	942	A4D1E1	Z804B_HUMAN	R	942	ENSP00000329638:S942R	ENSP00000329638:S942R	S	+	3	2	ZNF804B	88803058	0.000000	0.05858	0.002000	0.10522	0.826000	0.46750	-2.585000	0.00903	-0.459000	0.07013	-0.274000	0.10170	AGT		0.408	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		34	109	0	0	0	1	0	34	109				
INADL	10207	broad.mit.edu	37	1	62455839	62455839	+	Splice_Site	SNP	G	G	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:62455839G>T	ENST00000371158.2	+	28	3784		c.e28-1		INADL_ENST00000545929.1_Splice_Site|INADL_ENST00000316485.6_Splice_Site|INADL_ENST00000543708.1_Splice_Site	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)						cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						tcttttaatagaaaaaatCAG	0.333																																						ENST00000371158.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.e28-1		InaD-like (Drosophila)							23.0	23.0	23.0					1																	62455839		2198	4300	6498	SO:0001630	splice_region_variant	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62455839G>T	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.3671-1G>T	1.37:g.62455839G>T						INADL_ENST00000543708.1_Splice_Site|INADL_ENST00000316485.6_Splice_Site|INADL_ENST00000545929.1_Splice_Site		NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN			28	3784	+								O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Splice_Site	SNP	ENST00000371158.2	37		CCDS617.2																																																																																				0.333	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605	Intron	11	27	1	0	2.80697e-09	1	3.07072e-09	11	27				
GRM8	2918	broad.mit.edu	37	7	126544619	126544619	+	Silent	SNP	G	G	A	rs142836470		TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr7:126544619G>A	ENST00000339582.2	-	4	1654	c.846C>T	c.(844-846)gcC>gcT	p.A282A	GRM8_ENST00000358373.3_Silent_p.A282A|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Silent_p.A282A|GRM8_ENST00000405249.1_Silent_p.A282A			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	282					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CATCCTCATTGGCAAACATAA	0.383										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(844-846)gcC>gcT		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)	G	,	1,4405	2.1+/-5.4	0,1,2202	115.0	109.0	111.0		846,846	3.3	1.0	7	dbSNP_134	111	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous	GRM8	NM_000845.2,NM_001127323.1	,	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	,	282/909,282/909	126544619	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126544619G>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.846C>T	7.37:g.126544619G>A		HNSCC(24;0.065)				GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Silent_p.A282A|GRM8_ENST00000405249.1_Silent_p.A282A|GRM8_ENST00000358373.3_Silent_p.A282A	p.A282A			O00222	GRM8_HUMAN			4	1654	-		Prostate(267;0.186)	282					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.846C>T	CCDS5794.1																																																																																				0.383	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			8	59	0	0	0	1	0	8	59				
C1orf112	55732	broad.mit.edu	37	1	169796918	169796918	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:169796918C>A	ENST00000286031.6	+	12	1764	c.1064C>A	c.(1063-1065)tCt>tAt	p.S355Y	C1orf112_ENST00000413811.2_Intron|C1orf112_ENST00000359326.4_Missense_Mutation_p.S355Y|C1orf112_ENST00000498289.1_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	355										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AAGCTGCCATCTCAGCCTAAG	0.428																																						ENST00000286031.6																			0				breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34						c.(1063-1065)tCt>tAt		chromosome 1 open reading frame 112							373.0	371.0	372.0					1																	169796918		2203	4300	6503	SO:0001583	missense	55732							g.chr1:169796918C>A	AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.1064C>A	1.37:g.169796918C>A	ENSP00000286031:p.Ser355Tyr					C1orf112_ENST00000413811.2_Intron|C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Missense_Mutation_p.S355Y	p.S355Y	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN			12	1764	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		355					A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Missense_Mutation	SNP	ENST00000286031.6	37	c.1064C>A	CCDS1285.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.620066	0.46736	.	.	ENSG00000000460	ENST00000359326;ENST00000286031	T;T	0.50813	0.73;0.73	5.53	3.65	0.41850	.	0.193662	0.56097	D	0.000023	T	0.51753	0.1693	M	0.73598	2.24	0.80722	D	1	D;D	0.61697	0.99;0.99	D;D	0.63283	0.913;0.913	T	0.57370	-0.7823	10	0.72032	D	0.01	-4.6318	8.8798	0.35367	0.1482:0.7729:0.0:0.0788	.	297;355	B4DGF2;Q9NSG2	.;CA112_HUMAN	Y	355	ENSP00000352276:S355Y;ENSP00000286031:S355Y	ENSP00000286031:S355Y	S	+	2	0	C1orf112	168063542	0.419000	0.25449	0.413000	0.26509	0.371000	0.29859	0.920000	0.28705	0.697000	0.31718	-0.332000	0.08345	TCT		0.428	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186		74	360	1	0	1.3515e-34	1	1.61981e-34	74	360				
MS4A6A	64231	broad.mit.edu	37	11	59939680	59939680	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:59939680G>T	ENST00000530839.1	-	8	1190	c.698C>A	c.(697-699)tCc>tAc	p.S233Y	MS4A6A_ENST00000426738.2_3'UTR|MS4A6A_ENST00000420732.2_3'UTR|MS4A6A_ENST00000529054.1_Missense_Mutation_p.S261Y|MS4A6A_ENST00000323961.3_Missense_Mutation_p.S233Y|MS4A6A_ENST00000528851.1_3'UTR	NM_152852.2	NP_690591.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	233						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CATTTTTGAGGACATGCCAGA	0.333																																						ENST00000323961.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(697-699)tCc>tAc		membrane-spanning 4-domains, subfamily A, member 6A							142.0	140.0	141.0					11																	59939680		2201	4291	6492	SO:0001583	missense	64231					integral to membrane	receptor activity	g.chr11:59939680G>T	AB013104	CCDS7981.1, CCDS44615.1, CCDS44616.1, CCDS58134.1	11q12.1	2008-03-25			ENSG00000110077	ENSG00000110077			13375	protein-coding gene	gene with protein product		606548		MS4A6		11245982, 11401424	Standard	NM_152852		Approved	CD20L3	uc010rla.2	Q9H2W1	OTTHUMG00000167241	ENST00000530839.1:c.698C>A	11.37:g.59939680G>T	ENSP00000436979:p.Ser233Tyr					MS4A6A_ENST00000529054.1_Missense_Mutation_p.S261Y|MS4A6A_ENST00000530839.1_Missense_Mutation_p.S233Y|MS4A6A_ENST00000426738.2_3'UTR|MS4A6A_ENST00000528851.1_3'UTR|MS4A6A_ENST00000420732.2_3'UTR	p.S233Y	NM_152851.2	NP_690590.1	Q9H2W1	M4A6A_HUMAN			7	935	-			233					A8K755|F8W9K1|Q7Z4E8|Q8TBV7|Q8TEZ4|Q8TEZ5|Q96PG6|Q9H2L1|Q9H2N3|Q9H3V1|Q9HC76	Missense_Mutation	SNP	ENST00000530839.1	37	c.698C>A	CCDS7981.1	.	.	.	.	.	.	.	.	.	.	G	6.962	0.547341	0.13312	.	.	ENSG00000110077	ENST00000323961;ENST00000530839;ENST00000529054	T;T;T	0.04406	3.67;3.67;3.63	3.69	-1.83	0.07833	.	2.308840	0.01984	N	0.045074	T	0.03564	0.0102	N	0.24115	0.695	0.09310	N	0.999999	P;P	0.42785	0.79;0.79	B;B	0.38562	0.276;0.276	T	0.21895	-1.0232	10	0.62326	D	0.03	.	0.6519	0.00828	0.3146:0.1676:0.3465:0.1713	.	261;233	E9PSA9;Q9H2W1	.;M4A6A_HUMAN	Y	233;233;261	ENSP00000315878:S233Y;ENSP00000436979:S233Y;ENSP00000435844:S261Y	ENSP00000315878:S233Y	S	-	2	0	MS4A6A	59696256	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.655000	0.05348	-0.344000	0.08338	0.467000	0.42956	TCC		0.333	MS4A6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393848.1			20	70	1	0	2.41591e-17	1	2.85358e-17	20	70				
ECT2L	345930	broad.mit.edu	37	6	139222223	139222223	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr6:139222223T>A	ENST00000423192.1	+	20	2714	c.2553T>A	c.(2551-2553)caT>caA	p.H851Q	ECT2L_ENST00000367682.2_Missense_Mutation_p.H851Q|ECT2L_ENST00000541398.1_Missense_Mutation_p.H705Q			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	851							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TGGCCCTTCATCGGTTACTCA	0.398			"""N, Splice, Mis"""		ETP ALL																																	ENST00000423192.1				Rec	yes		6	6q24.1	345930	"""N, Splice, Mis"""	epithelial cell transforming sequence 2 oncogene-like			L			ETP ALL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						c.(2551-2553)caT>caA		epithelial cell transforming sequence 2 oncogene-like							164.0	151.0	155.0					6																	139222223		1862	4117	5979	SO:0001583	missense	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139222223T>A		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.2553T>A	6.37:g.139222223T>A	ENSP00000387388:p.His851Gln					ECT2L_ENST00000367682.2_Missense_Mutation_p.H851Q|ECT2L_ENST00000541398.1_Missense_Mutation_p.H705Q	p.H851Q			Q008S8	ECT2L_HUMAN			20	2714	+			851					B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	c.2553T>A	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	T	6.730	0.503419	0.12822	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.76448	-1.02;-1.02;-1.02	5.5	-5.78	0.02362	Pleckstrin homology-type (1);	1.024960	0.07891	U	0.971255	T	0.47469	0.1447	L	0.60455	1.87	0.09310	N	1	B;B	0.15141	0.012;0.007	B;B	0.15052	0.012;0.005	T	0.37009	-0.9724	10	0.13108	T	0.6	-0.2039	10.7085	0.45969	0.1107:0.6399:0.0:0.2494	.	705;851	F5H7S9;Q008S8	.;ECT2L_HUMAN	Q	851;851;705	ENSP00000387388:H851Q;ENSP00000356655:H851Q;ENSP00000442307:H705Q	ENSP00000356655:H851Q	H	+	3	2	ECT2L	139263916	0.162000	0.22906	0.049000	0.19019	0.075000	0.17131	0.050000	0.14120	-0.988000	0.03489	-0.481000	0.04817	CAT		0.398	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		16	86	0	0	0	1	0	16	86				
TOMM5	401505	broad.mit.edu	37	9	37592529	37592529	+	Start_Codon_SNP	SNP	T	T	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr9:37592529T>A	ENST00000321301.6	-	1	110	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	TOMM5_ENST00000401811.3_Start_Codon_SNP_p.M1L|RP11-613M10.9_ENST00000540557.1_Intron|TOMM5_ENST00000544379.1_Start_Codon_SNP_p.M1L|TOMM5_ENST00000377773.5_Start_Codon_SNP_p.M1L|RP11-613M10.8_ENST00000537239.2_5'Flank	NM_001001790.2	NP_001001790.1	Q8N4H5	TOM5_HUMAN	translocase of outer mitochondrial membrane 5 homolog (yeast)	1					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)											ATCCGGAACATCGCGGCTCTG	0.627																																						ENST00000377773.5																			0											c.(1-3)Atg>Ttg		translocase of outer mitochondrial membrane 5 homolog (yeast)							42.0	45.0	44.0					9																	37592529		2028	4183	6211	SO:0001582	initiator_codon_variant	401505					integral to membrane|mitochondrial outer membrane translocase complex		g.chr9:37592529T>A	BC029423	CCDS43803.1, CCDS47967.1, CCDS47968.1	9p13.2	2008-08-21	2008-08-21	2008-08-21	ENSG00000175768	ENSG00000175768			31369	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 105"""	C9orf105		18331822	Standard	NM_001001790		Approved	bA613M10.3	uc011lql.2	Q8N4H5	OTTHUMG00000019923	ENST00000321301.6:c.1A>T	9.37:g.37592529T>A	ENSP00000313584:p.Met1Leu					TOMM5_ENST00000544379.1_Start_Codon_SNP_p.M1L|RP11-613M10.9_ENST00000540557.1_Intron|TOMM5_ENST00000401811.3_Start_Codon_SNP_p.M1L|TOMM5_ENST00000321301.6_Start_Codon_SNP_p.M1L	p.M1L	NM_001134484.1|NM_001134485.1	NP_001127956.1|NP_001127957.1	Q8N4H5	TOM5_HUMAN			1	65	-			1					B2DG07|F6S928|Q5JRT7	Translation_Start_Site	SNP	ENST00000321301.6	37	c.1A>T	CCDS43803.1	.	.	.	.	.	.	.	.	.	.	T	17.96	3.516576	0.64634	.	.	ENSG00000175768	ENST00000377773;ENST00000321301;ENST00000401811;ENST00000544379	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.77745	0.4176	.	.	.	0.43522	D	0.995792	D;B;D	0.67145	0.996;0.386;0.977	D;P;D	0.76071	0.987;0.658;0.965	T	0.79897	-0.1609	8	0.62326	D	0.03	-26.2556	11.9001	0.52678	0.0:0.0:0.0:1.0	.	1;1;1	F6S928;Q8N4H5;Q5JRT7	.;TOM5_HUMAN;.	L	1	.	ENSP00000313584:M1L	M	-	1	0	TOMM5	37582529	1.000000	0.71417	0.944000	0.38274	0.544000	0.35116	6.207000	0.72159	2.371000	0.80710	0.533000	0.62120	ATG		0.627	TOMM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052468.2		Missense_Mutation	52	56	0	0	0	1	0	52	56				
DSCAML1	57453	broad.mit.edu	37	11	117389306	117389306	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:117389306G>A	ENST00000321322.6	-	7	1566	c.1565C>T	c.(1564-1566)tCg>tTg	p.S522L	DSCAML1_ENST00000527706.1_Missense_Mutation_p.S252L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	462	Ig-like C2-type 6.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGTGCCGTCCGACATGGTGTA	0.682																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(1564-1566)tCg>tTg		Down syndrome cell adhesion molecule like 1							95.0	89.0	91.0					11																	117389306		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117389306G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1565C>T	11.37:g.117389306G>A	ENSP00000315465:p.Ser522Leu					DSCAML1_ENST00000527706.1_Missense_Mutation_p.S252L	p.S522L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	7	1566	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	462			Ig-like C2-type 6.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.1565C>T	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086316	0.55861	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.67865	-0.29;-0.29	4.3	4.3	0.51218	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67711	0.2922	M	0.64080	1.96	0.51482	D	0.999926	P;P	0.41345	0.701;0.746	B;B	0.43658	0.3;0.426	T	0.66889	-0.5809	9	0.25106	T	0.35	.	16.9379	0.86208	0.0:0.0:1.0:0.0	.	252;462	G3V1B5;Q8TD84	.;DSCL1_HUMAN	L	252;522;229	ENSP00000434335:S252L;ENSP00000315465:S522L	ENSP00000315465:S522L	S	-	2	0	DSCAML1	116894516	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	9.635000	0.98437	2.203000	0.70933	0.555000	0.69702	TCG		0.682	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		24	74	0	0	0	1	0	24	74				
CASKIN1	57524	broad.mit.edu	37	16	2230946	2230946	+	Missense_Mutation	SNP	G	G	A	rs199591799	byFrequency	TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr16:2230946G>A	ENST00000343516.6	-	18	2515	c.2423C>T	c.(2422-2424)cCg>cTg	p.P808L	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	808	Pro-rich.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CAGCAGCTGCGGGGTGGGCTT	0.711													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		10117	0.0		0.0	False		,,,				2504	0.0					ENST00000343516.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						c.(2422-2424)cCg>cTg		CASK interacting protein 1																																				SO:0001583	missense	57524				signal transduction	cytoplasm		g.chr16:2230946G>A	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.2423C>T	16.37:g.2230946G>A	ENSP00000345436:p.Pro808Leu						p.P808L	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN			18	2515	-			808			Pro-rich.		Q9P2P0	Missense_Mutation	SNP	ENST00000343516.6	37	c.2423C>T	CCDS42103.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	G	13.97	2.396472	0.42512	.	.	ENSG00000167971	ENST00000343516;ENST00000382453	T	0.72167	-0.63	3.92	3.92	0.45320	.	.	.	.	.	T	0.80949	0.4722	M	0.63843	1.955	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.81086	-0.1092	9	0.41790	T	0.15	-10.3177	14.6281	0.68638	0.0:0.0:1.0:0.0	.	808	Q8WXD9	CSKI1_HUMAN	L	808;637	ENSP00000345436:P808L	ENSP00000345436:P808L	P	-	2	0	CASKIN1	2170947	0.994000	0.37717	0.997000	0.53966	0.177000	0.22998	1.528000	0.35985	1.995000	0.58328	0.407000	0.27541	CCG		0.711	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		3	15	0	0	0	1	0	3	15				
DLG2	1740	broad.mit.edu	37	11	83770484	83770484	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:83770484C>T	ENST00000532653.1	-	6	780	c.478G>A	c.(478-480)Gag>Aag	p.E160K	DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000531015.1_Missense_Mutation_p.E127K|DLG2_ENST00000524982.1_Missense_Mutation_p.E160K|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000280241.8_Missense_Mutation_p.E199K|DLG2_ENST00000543673.1_Missense_Mutation_p.E265K|DLG2_ENST00000398309.2_Missense_Mutation_p.E160K|DLG2_ENST00000418306.2_Missense_Mutation_p.E109K|DLG2_ENST00000398301.2_Missense_Mutation_p.E199K|DLG2_ENST00000330014.6_Missense_Mutation_p.E99K|DLG2_ENST00000376104.2_Missense_Mutation_p.E265K			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TGGGAAACCTCTGACACATCA	0.473																																						ENST00000398309.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(478-480)Gag>Aag		discs, large homolog 2 (Drosophila)							86.0	78.0	81.0					11																	83770484		1911	4150	6061	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	g.chr11:83770484C>T	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.478G>A	11.37:g.83770484C>T	ENSP00000435849:p.Glu160Lys					DLG2_ENST00000532653.1_Missense_Mutation_p.E160K|DLG2_ENST00000524982.1_Missense_Mutation_p.E160K|DLG2_ENST00000531015.1_Missense_Mutation_p.E127K|DLG2_ENST00000418306.2_Missense_Mutation_p.E109K|DLG2_ENST00000398301.2_Missense_Mutation_p.E199K|DLG2_ENST00000280241.8_Missense_Mutation_p.E199K|DLG2_ENST00000376104.2_Missense_Mutation_p.E265K|DLG2_ENST00000543673.1_Missense_Mutation_p.E265K|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000330014.6_Missense_Mutation_p.E99K	p.E160K	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN			6	948	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	160			PDZ 1.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37	c.478G>A		.	.	.	.	.	.	.	.	.	.	C	28.5	4.925629	0.92319	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301;ENST00000398299	T;T;T;T;T;T;T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32	5.17	4.26	0.50523	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000003	T	0.20740	0.0499	N	0.08118	0	0.80722	D	1	D;P;P;P;D;P;P;D	0.69078	0.997;0.911;0.641;0.948;0.983;0.897;0.581;0.997	D;P;B;P;P;P;P;D	0.85130	0.997;0.561;0.275;0.748;0.837;0.456;0.473;0.994	T	0.14699	-1.0463	9	.	.	.	.	13.5162	0.61541	0.0:0.9243:0.0:0.0756	.	127;160;160;99;199;265;160;109	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	K	160;265;109;265;199;99;160;160;265;127;199;77	ENSP00000381355:E160K;ENSP00000365272:E265K;ENSP00000402275:E109K;ENSP00000441994:E265K;ENSP00000280241:E199K;ENSP00000381353:E99K;ENSP00000432894:E160K;ENSP00000435849:E160K;ENSP00000433848:E127K;ENSP00000381346:E199K;ENSP00000381344:E77K	.	E	-	1	0	DLG2	83448132	1.000000	0.71417	0.988000	0.46212	0.996000	0.88848	7.487000	0.81328	1.189000	0.43028	0.460000	0.39030	GAG		0.473	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		7	47	0	0	0	1	0	7	47				
RPS6KA1	6195	broad.mit.edu	37	1	26883512	26883512	+	Silent	SNP	G	G	A	rs540126898		TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:26883512G>A	ENST00000374168.2	+	13	1159	c.1005G>A	c.(1003-1005)aaG>aaA	p.K335K	RPS6KA1_ENST00000374162.2_Silent_p.K243K|RPS6KA1_ENST00000526792.1_Silent_p.K243K|RPS6KA1_ENST00000531382.1_Silent_p.K344K|RPS6KA1_ENST00000488985.1_3'UTR|RPS6KA1_ENST00000374166.4_Silent_p.K324K|MIR1976_ENST00000459548.1_RNA|RPS6KA1_ENST00000530003.1_Silent_p.K319K	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	335	AGC-kinase C-terminal.		K -> T (in dbSNP:rs2229712). {ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:8141249}.		axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GTGAGATCAAGCCACCCTTCA	0.582													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19806	0.0		0.0	False		,,,				2504	0.0					ENST00000374168.2																			0				lung(1)	1						c.(1003-1005)aaG>aaA		ribosomal protein S6 kinase, 90kDa, polypeptide 1							228.0	162.0	185.0					1																	26883512		2203	4300	6503	SO:0001819	synonymous_variant	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26883512G>A	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1005G>A	1.37:g.26883512G>A						RPS6KA1_ENST00000488985.1_3'UTR|RPS6KA1_ENST00000531382.1_Silent_p.K344K|RPS6KA1_ENST00000530003.1_Silent_p.K319K|RPS6KA1_ENST00000526792.1_Silent_p.K243K|RPS6KA1_ENST00000374162.2_Silent_p.K243K|RPS6KA1_ENST00000374166.4_Silent_p.K324K	p.K335K	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	13	1159	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	335		K -> T (in dbSNP:rs2229712).	AGC-kinase C-terminal.		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Silent	SNP	ENST00000374168.2	37	c.1005G>A	CCDS284.1																																																																																				0.582	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		16	71	0	0	0	1	0	16	71				
ITPKB	3707	broad.mit.edu	37	1	226822564	226822564	+	Silent	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:226822564G>A	ENST00000272117.3	-	7	2648	c.2649C>T	c.(2647-2649)ttC>ttT	p.F883F	ITPKB_ENST00000429204.1_Silent_p.F883F			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	883					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TGTCGTGGATGAAGAGGAGGG	0.637																																					Colon(84;110 1851 5306 33547)	ENST00000429204.1																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30						c.(2647-2649)ttC>ttT		inositol-trisphosphate 3-kinase B							73.0	59.0	64.0					1																	226822564		2203	4300	6503	SO:0001819	synonymous_variant	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226822564G>A	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.2649C>T	1.37:g.226822564G>A						ITPKB_ENST00000272117.3_Silent_p.F883F	p.F883F	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN			8	2976	-		Prostate(94;0.0773)	883					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Silent	SNP	ENST00000272117.3	37	c.2649C>T	CCDS1555.1																																																																																				0.637	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		6	23	0	0	0	1	0	6	23				
SALL2	6297	broad.mit.edu	37	14	21992981	21992981	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr14:21992981C>T	ENST00000327430.3	-	2	1175	c.881G>A	c.(880-882)cGa>cAa	p.R294Q	AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Missense_Mutation_p.R157Q	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	294					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TTTGTGGCTTCGCCCAACCCC	0.602																																						ENST00000327430.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43						c.(880-882)cGa>cAa		spalt-like transcription factor 2																																				SO:0001583	missense	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21992981C>T	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.881G>A	14.37:g.21992981C>T	ENSP00000333537:p.Arg294Gln					SALL2_ENST00000450879.2_Missense_Mutation_p.R157Q|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron	p.R294Q	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	1175	-	all_cancers(95;0.000662)		294					B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	ENST00000327430.3	37	c.881G>A	CCDS32045.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.24|15.24	2.773681|2.773681	0.49786|0.49786	.|.	.|.	ENSG00000165821|ENSG00000165821	ENST00000546363|ENST00000327430;ENST00000450879;ENST00000541876	.|T;T	.|0.03920	.|3.85;3.76	4.49|4.49	4.49|4.49	0.54785|0.54785	.|.	.|0.000000	.|0.30940	.|U	.|0.008565	T|T	0.03608|0.03608	0.0103|0.0103	L|L	0.36672|0.36672	1.1|1.1	0.27682|0.27682	N|N	0.946391|0.946391	.|P;P;P;P	.|0.39624	.|0.681;0.681;0.681;0.681	.|B;B;B;B	.|0.24701	.|0.055;0.055;0.055;0.055	T|T	0.43032|0.43032	-0.9416|-0.9416	5|10	.|0.12766	.|T	.|0.61	-23.5961|-23.5961	14.7316|14.7316	0.69386|0.69386	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|157;157;292;294	.|B4DK65;E7EW59;B4DFD9;Q9Y467	.|.;.;.;SALL2_HUMAN	K|Q	153|294;157;294	.|ENSP00000333537:R294Q;ENSP00000396773:R157Q	.|ENSP00000333537:R294Q	E|R	-|-	1|2	0|0	SALL2|SALL2	21062821|21062821	0.186000|0.186000	0.23225|0.23225	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	0.716000|0.716000	0.25836|0.25836	2.327000|2.327000	0.79052|0.79052	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.602	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		8	45	0	0	0	1	0	8	45				
TP53	7157	broad.mit.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr17:7578403C>A	ENST00000269305.4	-	5	716	c.527G>T	c.(526-528)tGc>tTc	p.C176F	TP53_ENST00000359597.4_Missense_Mutation_p.C176F|TP53_ENST00000420246.2_Missense_Mutation_p.C176F|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.C176F|TP53_ENST00000445888.2_Missense_Mutation_p.C176F|TP53_ENST00000455263.2_Missense_Mutation_p.C176F	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	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; 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.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(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)	ATGGTGGGGGCAGCGCCTCAC	0.652		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"""		267	Substitution - Missense(224)|Deletion - Frameshift(18)|Deletion - In frame(13)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	p.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(1)	lung(42)|large_intestine(38)|upper_aerodigestive_tract(36)|oesophagus(26)|breast(26)|liver(20)|ovary(19)|haematopoietic_and_lymphoid_tissue(13)|stomach(10)|central_nervous_system(9)|bone(9)|urinary_tract(7)|genital_tract(2)|skin(2)|pancreas(2)|prostate(2)|adrenal_gland(1)|vulva(1)|biliary_tract(1)|endometrium(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.(526-528)tGc>tTc	Other conserved DNA damage response genes	tumor protein p53							49.0	49.0	49.0					17																	7578403		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578403C>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.527G>T	17.37:g.7578403C>A	ENSP00000269305:p.Cys176Phe	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_ENST00000269305.4_Missense_Mutation_p.C176F|TP53_ENST00000445888.2_Missense_Mutation_p.C176F|TP53_ENST00000455263.2_Missense_Mutation_p.C176F|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.C176F|TP53_ENST00000413465.2_Missense_Mutation_p.C176F	p.C176F	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	659	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	176		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.527G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433429	0.83776	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.994;0.996;0.998;0.997;0.995;0.997	D	0.96187	0.9135	10	0.87932	D	0	-18.1821	13.8336	0.63395	0.1543:0.8457:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176F;ENSP00000352610:C176F;ENSP00000269305:C176F;ENSP00000398846:C176F;ENSP00000391127:C176F;ENSP00000391478:C176F;ENSP00000425104:C44F;ENSP00000423862:C83F	ENSP00000269305:C176F	C	-	2	0	TP53	7519128	1.000000	0.71417	0.999000	0.59377	0.851000	0.48451	7.775000	0.85489	1.472000	0.48140	0.655000	0.94253	TGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		23	52	1	0	9.57634e-11	1	1.08399e-10	23	52				
PHF3	23469	broad.mit.edu	37	6	64408457	64408457	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr6:64408457A>T	ENST00000262043.3	+	8	3284	c.2944A>T	c.(2944-2946)Aga>Tga	p.R982*	PHF3_ENST00000393387.1_Nonsense_Mutation_p.R982*			Q92576	PHF3_HUMAN	PHD finger protein 3	982	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GAACAAATATAGAAGTTTGAT	0.333																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(2944-2946)Aga>Tga		PHD finger protein 3							36.0	43.0	41.0					6																	64408457		2193	4292	6485	SO:0001587	stop_gained	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64408457A>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.2944A>T	6.37:g.64408457A>T	ENSP00000262043:p.Arg982*					PHF3_ENST00000393387.1_Nonsense_Mutation_p.R982*	p.R982*			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		8	3284	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		982			TFIIS central.		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Nonsense_Mutation	SNP	ENST00000262043.3	37	c.2944A>T	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	A	39	7.599048	0.98381	.	.	ENSG00000118482	ENST00000506783;ENST00000515594;ENST00000262043;ENST00000393387	.	.	.	5.49	4.31	0.51392	.	0.000000	0.43416	D	0.000576	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.7849	12.9749	0.58532	0.8649:0.1351:0.0:0.0	.	.	.	.	X	796;251;982;982	.	ENSP00000262043:R982X	R	+	1	2	PHF3	64466416	0.993000	0.37304	0.987000	0.45799	0.957000	0.61999	2.587000	0.46128	1.004000	0.39156	0.397000	0.26171	AGA		0.333	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			13	50	0	0	0	1	0	13	50				
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	lincRNA	SNP	A	A	G	rs201023195		TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284																																						ENST00000369381.2																			0																																																			101927209							g.chr1:142713774A>G																													1.37:g.142713774A>G														0	831	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			6	58	0	0	0	1	0	6	58				
OR51I2	390064	broad.mit.edu	37	11	5474954	5474954	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:5474954C>T	ENST00000341449.2	+	1	317	c.236C>T	c.(235-237)cCc>cTc	p.P79L	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	79					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P79H(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCACACTGCCCACTGTACTC	0.502																																						ENST00000341449.2																			1	Substitution - Missense(1)	p.P79H(1)	lung(1)	endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29						c.(235-237)cCc>cTc		olfactory receptor, family 51, subfamily I, member 2							120.0	113.0	115.0					11																	5474954		2201	4297	6498	SO:0001583	missense	390064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5474954C>T	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"""GPCR / Class A : Olfactory receptors"""	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.236C>T	11.37:g.5474954C>T	ENSP00000341987:p.Pro79Leu					HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	p.P79L	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	317	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	79					Q6IF81	Missense_Mutation	SNP	ENST00000341449.2	37	c.236C>T	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307032	0.81247	.	.	ENSG00000187918	ENST00000341449	T	0.25749	1.78	5.57	4.65	0.58169	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000004	T	0.63046	0.2478	H	0.95539	3.685	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	T	0.75482	-0.3302	10	0.62326	D	0.03	.	14.6575	0.68844	0.1465:0.8535:0.0:0.0	.	79	Q9H344	O51I2_HUMAN	L	79	ENSP00000341987:P79L	ENSP00000341987:P79L	P	+	2	0	OR51I2	5431530	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	7.396000	0.79891	1.561000	0.49584	0.650000	0.86243	CCC		0.502	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		18	84	0	0	0	1	0	18	84				
JAM3	83700	broad.mit.edu	37	11	134014829	134014829	+	Silent	SNP	C	C	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:134014829C>A	ENST00000299106.4	+	5	711	c.552C>A	c.(550-552)tcC>tcA	p.S184S	JAM3_ENST00000529443.2_Silent_p.S229S|JAM3_ENST00000524969.1_3'UTR|JAM3_ENST00000441717.3_Silent_p.S133S			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	184	Ig-like C2-type.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|establishment of cell polarity (GO:0030010)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|myelination (GO:0042552)|myeloid progenitor cell differentiation (GO:0002318)|neutrophil homeostasis (GO:0001780)|regulation of actin cytoskeleton organization by cell-cell adhesion (GO:0090138)|regulation of neutrophil chemotaxis (GO:0090022)|spermatid development (GO:0007286)|transmission of nerve impulse (GO:0019226)	cell-cell contact zone (GO:0044291)|desmosome (GO:0030057)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	integrin binding (GO:0005178)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		CCACGGATTCCAGAGCCAATC	0.507																																						ENST00000299106.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10						c.(550-552)tcC>tcA		junctional adhesion molecule 3							138.0	115.0	122.0					11																	134014829		2201	4297	6498	SO:0001819	synonymous_variant	83700				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding	g.chr11:134014829C>A	AF356518	CCDS8494.1, CCDS55799.1, CCDS8494.2	11q25	2013-01-29			ENSG00000166086	ENSG00000166086		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15532	protein-coding gene	gene with protein product		606871					Standard	NM_032801		Approved	JAM-C, JAMC	uc001qhb.3	Q9BX67	OTTHUMG00000167130	ENST00000299106.4:c.552C>A	11.37:g.134014829C>A						JAM3_ENST00000524969.1_3'UTR|JAM3_ENST00000441717.3_Silent_p.S133S|JAM3_ENST00000529443.2_Silent_p.S229S	p.S184S			Q9BX67	JAM3_HUMAN		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)	5	711	+	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)	184			Ig-like C2-type.		B3KWG9|Q8WWL8|Q96FL1	Silent	SNP	ENST00000299106.4	37	c.552C>A	CCDS8494.2	.	.	.	.	.	.	.	.	.	.	C	5.056	0.195984	0.09599	.	.	ENSG00000166086	ENST00000529443	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	T	0.57257	0.2041	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55903	-0.8067	4	.	.	.	.	7.3442	0.26654	0.2907:0.63:0.0:0.0793	.	.	.	.	K	138	.	.	Q	+	1	0	JAM3	133520039	0.978000	0.34361	0.989000	0.46669	0.497000	0.33675	0.192000	0.17096	2.302000	0.77476	0.555000	0.69702	CAG		0.507	JAM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393303.4	NM_032801		28	48	1	0	1.39806e-14	1	1.61619e-14	28	48				
SLC29A3	55315	broad.mit.edu	37	10	73122322	73122322	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr10:73122322C>T	ENST00000373189.5	+	6	1437	c.1385C>T	c.(1384-1386)aCa>aTa	p.T462I		NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	462					transmembrane transport (GO:0055085)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						TTGGGCTTAACACTGGGCTCA	0.567																																					Esophageal Squamous(200;1319 2142 18949 31248 39672)	ENST00000373189.5																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1384-1386)aCa>aTa		solute carrier family 29 (equilibrative nucleoside transporter), member 3							100.0	67.0	78.0					10																	73122322		2203	4300	6503	SO:0001583	missense	55315				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity	g.chr10:73122322C>T	AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246		"""Solute carriers"""	23096	protein-coding gene	gene with protein product		612373	"""solute carrier family 29 (nucleoside transporters), member 3"""			11396612	Standard	NM_018344		Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.1385C>T	10.37:g.73122322C>T	ENSP00000362285:p.Thr462Ile						p.T462I	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN			6	1437	+			462					B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	Missense_Mutation	SNP	ENST00000373189.5	37	c.1385C>T	CCDS7310.1	.	.	.	.	.	.	.	.	.	.	C	9.264	1.043975	0.19748	.	.	ENSG00000198246	ENST00000373189	T	0.62639	0.01	5.56	1.96	0.26148	.	0.699167	0.14053	N	0.344570	T	0.42585	0.1209	N	0.17082	0.46	0.22601	N	0.99895	B	0.09022	0.002	B	0.11329	0.006	T	0.43605	-0.9381	9	0.54805	T	0.06	-1.5844	6.7982	0.23736	0.0:0.6099:0.0:0.3901	.	462	Q9BZD2	S29A3_HUMAN	I	462	ENSP00000362285:T462I	ENSP00000362285:T462I	T	+	2	0	SLC29A3	72792328	1.000000	0.71417	0.129000	0.21949	0.106000	0.19336	4.139000	0.58024	0.426000	0.26116	-0.302000	0.09304	ACA		0.567	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048544.1	NM_018344		4	60	0	0	0	1	0	4	60				
KANK1	23189	broad.mit.edu	37	9	732477	732477	+	Silent	SNP	G	G	A	rs569686873|rs370051574		TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr9:732477G>A	ENST00000382303.1	+	10	3757	c.3105G>A	c.(3103-3105)gaG>gaA	p.E1035E	KANK1_ENST00000382293.3_Silent_p.E877E|KANK1_ENST00000382297.2_Silent_p.E1035E|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1035					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TTGAAGAAGAGGAGGAGGAGG	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		19819	0.0		0.0	False		,,,				2504	0.001					ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(3103-3105)gaG>gaA		KN motif and ankyrin repeat domains 1							153.0	134.0	140.0					9																	732477		2203	4300	6503	SO:0001819	synonymous_variant	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:732477G>A	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3105G>A	9.37:g.732477G>A						KANK1_ENST00000382297.2_Silent_p.E1035E|KANK1_ENST00000382293.3_Silent_p.E877E|KANK1_ENST00000489369.1_3'UTR	p.E1035E	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	10	3757	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	1035					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	ENST00000382303.1	37	c.3105G>A	CCDS34976.1																																																																																				0.468	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		4	185	0	0	0	1	0	4	185				
PRKG1	5592	broad.mit.edu	37	10	52913073	52913073	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr10:52913073T>A	ENST00000401604.2	+	2	610	c.416T>A	c.(415-417)cTg>cAg	p.L139Q	PRKG1_ENST00000373980.4_Missense_Mutation_p.L154Q|PRKG1_ENST00000373985.1_Missense_Mutation_p.L127Q			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	139	cGMP-binding, high affinity.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		GTGGGGTCACTGGTGTATGTC	0.448																																						ENST00000373980.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53						c.(460-462)cTg>cAg		protein kinase, cGMP-dependent, type I							178.0	162.0	168.0					10																	52913073		2203	4299	6502	SO:0001583	missense	5592				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr10:52913073T>A		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.416T>A	10.37:g.52913073T>A	ENSP00000384200:p.Leu139Gln					PRKG1_ENST00000373985.1_Missense_Mutation_p.L127Q|PRKG1_ENST00000401604.2_Missense_Mutation_p.L139Q	p.L154Q	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)	2	878	+		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)	139					A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	37	c.461T>A	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	T	13.18	2.160928	0.38119	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000373976	D;D;D;D	0.92397	-3.03;-3.03;-3.03;-3.03	5.48	5.48	0.80851	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.64402	D	0.000010	D	0.87939	0.6304	N	0.25060	0.705	0.58432	D	0.999998	B;B;B	0.23128	0.08;0.057;0.038	B;B;B	0.35413	0.202;0.043;0.074	D	0.83992	0.0338	10	0.29301	T	0.29	-5.1613	13.8062	0.63233	0.0:0.0:0.0:1.0	.	139;154;139	B4DT93;Q13976-2;Q13976	.;.;KGP1_HUMAN	Q	139;127;154;12	ENSP00000384200:L139Q;ENSP00000363097:L127Q;ENSP00000363092:L154Q;ENSP00000363087:L12Q	ENSP00000363087:L12Q	L	+	2	0	PRKG1	52583079	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.456000	0.80751	2.190000	0.69967	0.533000	0.62120	CTG		0.448	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				14	54	0	0	0	1	0	14	54				
NRXN3	9369	broad.mit.edu	37	14	79433711	79433711	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr14:79433711A>T	ENST00000554719.1	+	10	2310	c.1819A>T	c.(1819-1821)Atc>Ttc	p.I607F	NRXN3_ENST00000335750.5_Missense_Mutation_p.I607F	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	198					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CACTCAGGTTATCAATGGTGC	0.408																																						ENST00000554719.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(1819-1821)Atc>Ttc		neurexin 3							79.0	70.0	73.0					14																	79433711		2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79433711A>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1819A>T	14.37:g.79433711A>T	ENSP00000451648:p.Ile607Phe					NRXN3_ENST00000335750.5_Missense_Mutation_p.I607F	p.I607F	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	10	2310	+		Renal(4;0.00876)	198					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.1819A>T	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	A	16.59	3.165922	0.57476	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.79033	-1.23;-1.23	5.65	5.65	0.86999	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.225634	0.45361	D	0.000374	T	0.80523	0.4639	.	.	.	0.49915	D	0.999832	P;B	0.48016	0.904;0.122	P;B	0.49387	0.609;0.173	T	0.80030	-0.1553	8	.	.	.	.	16.0399	0.80667	1.0:0.0:0.0:0.0	.	980;607	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	F	980;969;607;607	ENSP00000451648:I607F;ENSP00000338349:I607F	.	I	+	1	0	NRXN3	78503464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.483000	0.53194	2.371000	0.80710	0.533000	0.62120	ATC		0.408	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		6	25	0	0	0	1	0	6	25				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	634							ion channel inhibitor activity (GO:0008200)	p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.I634T(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1900-1902)aTa>aCa		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593000A>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1901T>C	2.37:g.96593000A>G	ENSP00000403302:p.Ile634Thr						p.I634T							28	1985	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1901T>C		.	.	.	.	.	.	.	.	.	.	a	7.838	0.721224	0.15372	.	.	ENSG00000174501	ENST00000456556	T	0.77229	-1.08	0.578	-1.16	0.09678	.	.	.	.	.	T	0.70718	0.3256	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.56153	-0.8026	6	0.08381	T	0.77	.	.	.	.	.	.	.	.	T	634	ENSP00000403302:I634T	ENSP00000403302:I634T	I	-	2	0	AC073995.2	95956727	0.016000	0.18221	0.004000	0.12327	0.101000	0.19017	0.588000	0.23924	-0.580000	0.05944	0.163000	0.16589	ATA		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		3	45	0	0	0	1	0	3	45				
OR10AG1	282770	broad.mit.edu	37	11	55735566	55735566	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:55735566A>G	ENST00000312345.2	-	1	424	c.374T>C	c.(373-375)cTa>cCa	p.L125P		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GTTCATCACTAGAGGATACTG	0.443																																						ENST00000312345.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(373-375)cTa>cCa		olfactory receptor, family 10, subfamily AG, member 1							77.0	75.0	76.0					11																	55735566		2201	4296	6497	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735566A>G	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.374T>C	11.37:g.55735566A>G	ENSP00000311477:p.Leu125Pro						p.L125P	NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN			1	424	-	Esophageal squamous(21;0.0137)		125					B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.374T>C	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	A	10.32	1.318825	0.23994	.	.	ENSG00000174970	ENST00000312345	T	0.00648	5.99	5.47	3.15	0.36227	GPCR, rhodopsin-like superfamily (1);	0.361211	0.20458	N	0.091952	T	0.03220	0.0094	M	0.89601	3.045	0.18873	N	0.999985	D	0.63880	0.993	D	0.63033	0.91	T	0.21965	-1.0230	10	0.87932	D	0	.	7.0002	0.24805	0.7397:0.0:0.2603:0.0	.	125	Q8NH19	O10AG_HUMAN	P	125	ENSP00000311477:L125P	ENSP00000311477:L125P	L	-	2	0	OR10AG1	55492142	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	0.228000	0.17814	0.405000	0.25532	0.391000	0.25812	CTA		0.443	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		5	55	0	0	0	1	0	5	55				
ZNF700	90592	broad.mit.edu	37	19	12060399	12060399	+	Silent	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr19:12060399C>T	ENST00000254321.5	+	4	1703	c.1560C>T	c.(1558-1560)gcC>gcT	p.A520A	ZNF700_ENST00000482090.1_Silent_p.A502A|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	520					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TTTATTCTGCCAAGTCATTTC	0.378																																						ENST00000482090.1																		ZNF700/MAST1_ENST00000251472(2)	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						c.(1504-1506)gcC>gcT		zinc finger protein 700							60.0	63.0	62.0					19																	12060399		2203	4300	6503	SO:0001819	synonymous_variant	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12060399C>T	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1560C>T	19.37:g.12060399C>T						ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Silent_p.A520A|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron	p.A502A			Q9H0M5	ZN700_HUMAN			3	1924	+			520					B9EGU4	Silent	SNP	ENST00000254321.5	37	c.1506C>T	CCDS32915.1																																																																																				0.378	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		14	52	0	0	0	1	0	14	52				
FAT1	2195	broad.mit.edu	37	4	187542734	187542734	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr4:187542734G>C	ENST00000441802.2	-	10	5215	c.5006C>G	c.(5005-5007)tCa>tGa	p.S1669*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1669	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATATTCTTTTGATGTAAACTT	0.398										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(5005-5007)tCa>tGa		FAT atypical cadherin 1							99.0	95.0	97.0					4																	187542734		1875	4114	5989	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187542734G>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.5006C>G	4.37:g.187542734G>C	ENSP00000406229:p.Ser1669*	HNSCC(5;0.00058)					p.S1669*	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	5215	-			1669			Cadherin 15.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.5006C>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	42	9.211140	0.99101	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.19	5.19	0.71726	.	0.196250	0.42964	D	0.000626	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	8.5887	0.33674	0.0763:0.0:0.7706:0.1531	.	.	.	.	X	1669;1671	.	ENSP00000260147:S1671X	S	-	2	0	FAT1	187779728	0.400000	0.25295	0.910000	0.35882	0.184000	0.23303	2.140000	0.42159	2.857000	0.98124	0.650000	0.86243	TCA		0.398	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		7	24	0	0	0	1	0	7	24				
CYP2D7	1564	broad.mit.edu	37	22	42538870	42538870	+	RNA	SNP	A	A	C	rs2982057	byFrequency	TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr22:42538870A>C	ENST00000428786.1	-	0	0				CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA																							CCATAGCGCGACAGGAACACC	0.687													N|||	80	0.0159744	0.0023	0.0317	5008	,	,		11900	0.0109		0.0348	False		,,,				2504	0.0092					ENST00000358097.4																			0				endometrium(1)	1																																														1564							g.chr22:42538870A>C																													22.37:g.42538870A>C						CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000433992.1_RNA								0	449	-									RNA	SNP	ENST00000428786.1	37			30	0.013736263736263736	1	0.0020325203252032522	5	0.013812154696132596	5	0.008741258741258742	19	0.025065963060686015	C	8.846	0.943329	0.18281	.	.	ENSG00000205702	ENST00000428297;ENST00000381321;ENST00000436260	.	.	.	3.26	3.26	0.37387	.	.	.	.	.	T	0.04724	0.0128	.	.	.	0.28613	N	0.908552	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.23154	-1.0196	7	0.02654	T	1	.	8.0614	0.30635	0.2422:0.7578:0.0:0.0	rs2982057	122;32	Q6XP50;F5H167	.;.	A	121;71;32	.	ENSP00000446103:S71A	S	-	1	0	CYP2D7P1	40868814	0.299000	0.24426	0.017000	0.16124	0.002000	0.02628	0.565000	0.23578	0.961000	0.38030	-0.290000	0.09829	TCG		0.687	RP4-669P10.16-001	KNOWN	basic|exp_conf	sense_intronic	sense_intronic	OTTHUMT00000320534.1			4	32	0	0	0	1	0	4	32				
ALMS1	7840	broad.mit.edu	37	2	73717929	73717929	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr2:73717929C>A	ENST00000264448.6	+	10	8951	c.8840C>A	c.(8839-8841)cCc>cAc	p.P2947H	AC096546.1_ENST00000408160.1_RNA|ALMS1_ENST00000409009.1_Missense_Mutation_p.P2905H	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2947					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AACCATTCTCCCCTTCCTCAA	0.438																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(8839-8841)cCc>cAc		Alstrom syndrome 1							175.0	162.0	166.0					2																	73717929		1879	4103	5982	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73717929C>A	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.8840C>A	2.37:g.73717929C>A	ENSP00000264448:p.Pro2947His					ALMS1_ENST00000409009.1_Missense_Mutation_p.P2905H	p.P2947H	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			10	8951	+			2947					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.8840C>A	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	c	0.949	-0.706940	0.03230	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.06068	3.35;3.35	4.78	-0.202	0.13208	.	0.789938	0.11158	N	0.593311	T	0.06234	0.0161	L	0.50333	1.59	0.09310	N	1	B;B;B	0.24882	0.113;0.043;0.043	B;B;B	0.23018	0.043;0.043;0.043	T	0.36407	-0.9749	10	0.66056	D	0.02	.	3.9182	0.09233	0.1567:0.4928:0.0:0.3505	.	2947;2905;2947	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	H	2905;2947	ENSP00000386627:P2905H;ENSP00000264448:P2947H	ENSP00000264448:P2947H	P	+	2	0	ALMS1	73571437	0.012000	0.17670	0.003000	0.11579	0.135000	0.20990	0.126000	0.15769	-0.045000	0.13468	-0.157000	0.13467	CCC		0.438	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		6	200	1	0	0.00116845	1	0.00122088	6	200				
ZNF737	100129842	broad.mit.edu	37	19	20728474	20728474	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr19:20728474C>G	ENST00000427401.4	-	4	629	c.535G>C	c.(535-537)Ggc>Cgc	p.G179R		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	179					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)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						AAAGCTTTGCCACATTCTATA	0.333																																						ENST00000427401.4																			0				breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(535-537)Ggc>Cgc		zinc finger protein 737							26.0	22.0	23.0					19																	20728474		692	1591	2283	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20728474C>G	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.535G>C	19.37:g.20728474C>G	ENSP00000395733:p.Gly179Arg						p.G179R	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN			4	629	-			179					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.535G>C	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	-	14.64	2.594525	0.46214	.	.	ENSG00000237440	ENST00000427401	T	0.36340	1.26	0.801	0.801	0.18679	.	.	.	.	.	T	0.36717	0.0977	M	0.80422	2.495	0.31589	N	0.654169	P	0.36086	0.536	B	0.34180	0.177	T	0.45308	-0.9270	9	0.62326	D	0.03	.	6.955	0.24565	0.0:1.0:0.0:0.0	.	179	C9JHM3	.	R	179	ENSP00000395733:G179R	ENSP00000395733:G179R	G	-	1	0	ZNF737	20520314	0.014000	0.17966	0.321000	0.25320	0.321000	0.28281	0.751000	0.26348	0.170000	0.19704	0.173000	0.16961	GGC		0.333	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		6	19	0	0	0	1	0	6	19				
C16orf78	123970	broad.mit.edu	37	16	49407997	49407997	+	Silent	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr16:49407997C>T	ENST00000299191.3	+	1	264	c.147C>T	c.(145-147)ccC>ccT	p.P49P		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	49						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						AACAAGCTCCCGAGGTGGGTA	0.512																																						ENST00000299191.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						c.(145-147)ccC>ccT		chromosome 16 open reading frame 78							60.0	58.0	59.0					16																	49407997		2199	4300	6499	SO:0001819	synonymous_variant	123970							g.chr16:49407997C>T	BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.147C>T	16.37:g.49407997C>T							p.P49P	NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN			1	264	+			49						Silent	SNP	ENST00000299191.3	37	c.147C>T	CCDS10738.1																																																																																				0.512	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256846.1	NM_144602		10	52	0	0	0	1	0	10	52				
AKAP2	11217	broad.mit.edu	37	9	112899173	112899173	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr9:112899173A>G	ENST00000259318.7	+	2	863	c.656A>G	c.(655-657)gAa>gGa	p.E219G	AKAP2_ENST00000434623.2_Missense_Mutation_p.E308G|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.E450G|AKAP2_ENST00000374525.1_Missense_Mutation_p.E308G|AKAP2_ENST00000510514.5_Missense_Mutation_p.E450G|AKAP2_ENST00000555236.1_Missense_Mutation_p.E450G|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E450G	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	219										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CTGGAGCTGGAAAAGGAGAGG	0.512																																						ENST00000374530.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(1348-1350)gAa>gGa									64.0	65.0	65.0					9																	112899173		2203	4300	6503	SO:0001583	missense	445815						enzyme binding	g.chr9:112899173A>G	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.656A>G	9.37:g.112899173A>G	ENSP00000259318:p.Glu219Gly					AKAP2_ENST00000510514.5_Missense_Mutation_p.E450G|AKAP2_ENST00000434623.2_Missense_Mutation_p.E308G|AKAP2_ENST00000555236.1_Missense_Mutation_p.E450G|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E450G|AKAP2_ENST00000259318.7_Missense_Mutation_p.E219G|AKAP2_ENST00000374525.1_Missense_Mutation_p.E308G	p.E450G	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			8	1529	+			219					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.1349A>G	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.128395	0.77549	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.68577	0.3016	M	0.70275	2.135	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.998;0.998;0.986;0.998;0.995;0.999;0.999;0.997	T	0.71803	-0.4482	10	0.87932	D	0	-29.7485	15.6754	0.77316	1.0:0.0:0.0:0.0	.	219;308;302;308;309;450;450;268	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	G	450;450;450;450;308;308;268;219	ENSP00000363654:E450G;ENSP00000305861:E450G;ENSP00000451476:E450G;ENSP00000421522:E450G;ENSP00000404782:E308G;ENSP00000363649:E308G;ENSP00000419268:E268G;ENSP00000259318:E219G	ENSP00000259318:E219G	E	+	2	0	PALM2-AKAP2;AKAP2	111938994	1.000000	0.71417	0.992000	0.48379	0.985000	0.73830	9.085000	0.94083	2.291000	0.77112	0.533000	0.62120	GAA		0.512	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		20	47	0	0	0	1	0	20	47				
TAS1R1	80835	broad.mit.edu	37	1	6639390	6639390	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:6639390G>A	ENST00000333172.6	+	6	2465	c.2272G>A	c.(2272-2274)Gag>Aag	p.E758K	ZBTB48_ENST00000377674.4_5'Flank|TAS1R1_ENST00000328191.4_3'UTR|TAS1R1_ENST00000351136.3_Missense_Mutation_p.E504K	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	758					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GAACTACAACGAGGCCAAATG	0.572																																						ENST00000333172.6																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(2272-2274)Gag>Aag		taste receptor, type 1, member 1							187.0	157.0	167.0					1																	6639390		2203	4300	6503	SO:0001583	missense	80835				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6639390G>A		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.2272G>A	1.37:g.6639390G>A	ENSP00000331867:p.Glu758Lys					TAS1R1_ENST00000351136.3_Missense_Mutation_p.E504K|TAS1R1_ENST00000328191.4_3'UTR	p.E758K	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	6	2465	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	758					B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	ENST00000333172.6	37	c.2272G>A	CCDS81.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.687672|5.687672	0.96784|0.96784	.|.	.|.	ENSG00000173662|ENSG00000173662	ENST00000333172;ENST00000351136|ENST00000415267	D;D|.	0.92752|.	-3.1;-3.1|.	5.18|5.18	5.18|5.18	0.71444|0.71444	GPCR, family 3, conserved site (1);GPCR, family 3, C-terminal (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83022|0.83022	0.5164|0.5164	M|M	0.87456|0.87456	2.885|2.885	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.992;1.0|.	D|D	0.85586|0.85586	0.1243|0.1243	10|5	0.87932|.	D|.	0|.	.|.	17.699|17.699	0.88289|0.88289	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	504;758|.	Q7RTX1-2;Q7RTX1|.	.;TS1R1_HUMAN|.	K|Q	758;504|215	ENSP00000331867:E758K;ENSP00000312558:E504K|.	ENSP00000331867:E758K|.	E|R	+|+	1|2	0|0	TAS1R1|TAS1R1	6561977|6561977	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.990000|0.990000	0.78478|0.78478	5.563000|5.563000	0.67352|0.67352	2.401000|2.401000	0.81631|0.81631	0.591000|0.591000	0.81541|0.81541	GAG|CGA		0.572	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1			4	61	0	0	0	1	0	4	61				
TCERG1	10915	broad.mit.edu	37	5	145883031	145883031	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr5:145883031C>T	ENST00000296702.5	+	17	2514	c.2476C>T	c.(2476-2478)Cgt>Tgt	p.R826C	TCERG1_ENST00000509787.1_3'UTR|TCERG1_ENST00000394421.2_Missense_Mutation_p.R805C	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	826	FF 3.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGTGATCCACGTTACAAAGC	0.338																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(2476-2478)Cgt>Tgt		transcription elongation regulator 1							101.0	92.0	95.0					5																	145883031		2203	4300	6503	SO:0001583	missense	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145883031C>T	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.2476C>T	5.37:g.145883031C>T	ENSP00000296702:p.Arg826Cys					TCERG1_ENST00000509787.1_3'UTR|TCERG1_ENST00000394421.2_Missense_Mutation_p.R805C	p.R826C	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		17	2514	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	826			FF 3.		Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	c.2476C>T	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.255840	0.80135	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.57907	0.37;0.37	5.05	4.17	0.49024	FF domain (4);	0.000000	0.85682	D	0.000000	T	0.76463	0.3991	M	0.89785	3.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.81976	-0.0686	10	0.87932	D	0	-7.7928	13.6691	0.62414	0.0:0.9243:0.0:0.0757	.	805;826	O14776-2;O14776	.;TCRG1_HUMAN	C	826;805	ENSP00000296702:R826C;ENSP00000377943:R805C	ENSP00000296702:R826C	R	+	1	0	TCERG1	145863224	1.000000	0.71417	0.991000	0.47740	0.996000	0.88848	4.438000	0.59961	1.248000	0.43934	0.591000	0.81541	CGT		0.338	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		7	20	0	0	0	1	0	7	20				
PCED1B	91523	broad.mit.edu	37	12	47629134	47629134	+	Silent	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr12:47629134C>T	ENST00000546455.1	+	4	1019	c.288C>T	c.(286-288)cgC>cgT	p.R96R	RP11-493L12.3_ENST00000547748.1_RNA|PCED1B_ENST00000432328.1_Silent_p.R96R			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	96							hydrolase activity (GO:0016787)										TCCTCACCCGCGTGTACTCCG	0.592																																						ENST00000546455.1																			0											c.(286-288)cgC>cgT		PC-esterase domain containing 1B							127.0	132.0	130.0					12																	47629134		2203	4300	6503	SO:0001819	synonymous_variant	91523							g.chr12:47629134C>T	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.288C>T	12.37:g.47629134C>T						PCED1B_ENST00000432328.1_Silent_p.R96R	p.R96R							4	1019	+								Q96B20	Silent	SNP	ENST00000546455.1	37	c.288C>T	CCDS8752.1																																																																																				0.592	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		28	160	0	0	0	1	0	28	160				
ZNF536	9745	broad.mit.edu	37	19	30936565	30936565	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr19:30936565G>T	ENST00000355537.3	+	2	2243	c.2096G>T	c.(2095-2097)gGg>gTg	p.G699V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	699					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GAGGAGAGCGGGGTCGGAGGC	0.692																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(2095-2097)gGg>gTg		zinc finger protein 536							16.0	20.0	19.0					19																	30936565		2194	4282	6476	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30936565G>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2096G>T	19.37:g.30936565G>T	ENSP00000347730:p.Gly699Val						p.G699V	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	2243	+	Esophageal squamous(110;0.0834)		699					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.2096G>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.472236	0.63737	.	.	ENSG00000198597	ENST00000355537	T	0.10382	2.88	5.51	5.51	0.81932	.	0.051779	0.85682	D	0.000000	T	0.21062	0.0507	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.09618	-1.0666	10	0.19590	T	0.45	-35.3702	19.4311	0.94768	0.0:0.0:1.0:0.0	.	699;699	A7E228;O15090	.;ZN536_HUMAN	V	699	ENSP00000347730:G699V	ENSP00000347730:G699V	G	+	2	0	ZNF536	35628405	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	7.446000	0.80609	2.557000	0.86248	0.655000	0.94253	GGG		0.692	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		6	30	1	0	0.00198382	1	0.00205963	6	30				
ARHGAP22	58504	broad.mit.edu	37	10	49654477	49654477	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr10:49654477C>T	ENST00000249601.4	-	10	2350	c.2054G>A	c.(2053-2055)gGa>gAa	p.G685E	ARHGAP22_ENST00000374172.1_Missense_Mutation_p.G576E|ARHGAP22_ENST00000477708.2_Missense_Mutation_p.G518E|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.G691E|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.G701E|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.G526E|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.G595E	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	685					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGTCAAGCTTCCTAGGGTCGA	0.542																																						ENST00000249601.4																			0				endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(2053-2055)gGa>gAa		Rho GTPase activating protein 22							127.0	120.0	122.0					10																	49654477		2203	4300	6503	SO:0001583	missense	58504				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity	g.chr10:49654477C>T	AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.2054G>A	10.37:g.49654477C>T	ENSP00000249601:p.Gly685Glu					ARHGAP22_ENST00000374170.1_Missense_Mutation_p.G526E|ARHGAP22_ENST00000477708.2_Missense_Mutation_p.G518E|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.G595E|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.G691E|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.G576E|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.G701E	p.G685E	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN			10	2350	-			685					A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Missense_Mutation	SNP	ENST00000249601.4	37	c.2054G>A	CCDS7227.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158164	0.78114	.	.	ENSG00000128805	ENST00000249601;ENST00000374172;ENST00000374170;ENST00000477708;ENST00000417247;ENST00000435790;ENST00000417912	T;T;T;T;T;T;T	0.46063	2.17;1.84;0.88;1.31;1.79;2.12;2.18	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.67869	0.2939	M	0.84433	2.695	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;1.0;1.0	T	0.75631	-0.3251	10	0.87932	D	0	.	15.4296	0.75081	0.0:1.0:0.0:0.0	.	691;685;701;685;595;518	B4DED8;A6NDI7;Q7Z5H3-2;Q7Z5H3;Q7Z5H3-3;D6R9V6	.;.;.;RHG22_HUMAN;.;.	E	685;576;526;518;595;691;701	ENSP00000249601:G685E;ENSP00000363287:G576E;ENSP00000363285:G526E;ENSP00000422868:G518E;ENSP00000410054:G595E;ENSP00000416701:G691E;ENSP00000412461:G701E	ENSP00000249601:G685E	G	-	2	0	ARHGAP22	49324483	1.000000	0.71417	0.998000	0.56505	0.648000	0.38561	7.632000	0.83247	1.869000	0.54173	0.491000	0.48974	GGA		0.542	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226		14	87	0	0	0	1	0	14	87				
APOB	338	broad.mit.edu	37	2	21231802	21231802	+	Silent	SNP	G	G	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr2:21231802G>T	ENST00000233242.1	-	26	8065	c.7938C>A	c.(7936-7938)tcC>tcA	p.S2646S		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2646					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTCTGGTGTGGAAAACCTGG	0.358																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(7936-7938)tcC>tcA		apolipoprotein B	Atorvastatin(DB01076)						131.0	138.0	136.0					2																	21231802		2177	4291	6468	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21231802G>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.7938C>A	2.37:g.21231802G>T							p.S2646S	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	8065	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2646					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.7938C>A	CCDS1703.1																																																																																				0.358	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			23	157	1	0	2.65835e-16	1	3.11734e-16	23	157				
OR2AG2	338755	broad.mit.edu	37	11	6790036	6790036	+	Missense_Mutation	SNP	T	T	C	rs375180633		TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:6790036T>C	ENST00000338569.2	-	1	250	c.153A>G	c.(151-153)atA>atG	p.I51M		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCCGGGCTTCTATGGTGATGG	0.532																																						ENST00000338569.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28						c.(151-153)atA>atG		olfactory receptor, family 2, subfamily AG, member 2		T	MET/ILE	1,4401	2.1+/-5.4	0,1,2200	146.0	132.0	137.0		153	-3.5	0.0	11		137	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR2AG2	NM_001004490.1	10	0,2,6495	CC,CT,TT		0.0116,0.0227,0.0154	benign	51/317	6790036	2,12992	2201	4296	6497	SO:0001583	missense	338755				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6790036T>C	AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124		"""GPCR / Class A : Olfactory receptors"""	15143	protein-coding gene	gene with protein product				OR2AG2P			Standard	NM_001004490		Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.153A>G	11.37:g.6790036T>C	ENSP00000342697:p.Ile51Met						p.I51M	NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	250	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	51						Missense_Mutation	SNP	ENST00000338569.2	37	c.153A>G	CCDS31413.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.385694	0.00014	2.27E-4	1.16E-4	ENSG00000188124	ENST00000338569	T	0.03035	4.07	4.28	-3.49	0.04724	GPCR, rhodopsin-like superfamily (1);	1.362050	0.04710	N	0.417425	T	0.02012	0.0063	N	0.05487	-0.04	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47995	-0.9073	10	0.18276	T	0.48	.	6.5042	0.22186	0.1359:0.2803:0.0:0.5838	.	51	A6NM03	O2AG2_HUMAN	M	51	ENSP00000342697:I51M	ENSP00000342697:I51M	I	-	3	3	OR2AG2	6746612	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.808000	0.04515	-0.721000	0.04929	-1.660000	0.00751	ATA		0.532	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386775.1	NM_001004490		5	113	0	0	0	1	0	5	113				
LILRB1	10859	broad.mit.edu	37	19	55143049	55143049	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr19:55143049G>A	ENST00000396331.1	+	5	526	c.169G>A	c.(169-171)Gag>Aag	p.E57K	LILRB1_ENST00000434867.2_Missense_Mutation_p.E57K|LILRB1_ENST00000448689.1_Missense_Mutation_p.E57K|LILRB1_ENST00000396321.2_Missense_Mutation_p.E57K|LILRB1_ENST00000396317.1_Missense_Mutation_p.E57K|LILRB1_ENST00000396327.3_Missense_Mutation_p.E57K|LILRB1_ENST00000324602.7_Missense_Mutation_p.E57K|LILRB1_ENST00000396315.1_Missense_Mutation_p.E57K|AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000427581.2_Missense_Mutation_p.E93K|LILRB1_ENST00000396332.4_Missense_Mutation_p.E57K|LILRB1_ENST00000418536.2_Missense_Mutation_p.E57K	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	57	Ig-like C2-type 1.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGAGACCCAGGAGTACCGTCT	0.582										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(169-171)Gag>Aag		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							117.0	119.0	118.0					19																	55143049		2203	4300	6503	SO:0001583	missense	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55143049G>A	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.169G>A	19.37:g.55143049G>A	ENSP00000379622:p.Glu57Lys	HNSCC(37;0.09)				LILRB1_ENST00000396315.1_Missense_Mutation_p.E57K|LILRB1_ENST00000396317.1_Missense_Mutation_p.E57K|LILRB1_ENST00000396327.3_Missense_Mutation_p.E57K|LILRB1_ENST00000396332.4_Missense_Mutation_p.E57K|LILRB1_ENST00000448689.1_Missense_Mutation_p.E57K|LILRB1_ENST00000434867.2_Missense_Mutation_p.E57K|LILRB1_ENST00000396321.2_Missense_Mutation_p.E57K|LILRB1_ENST00000427581.2_Missense_Mutation_p.E93K|LILRB1_ENST00000418536.2_Missense_Mutation_p.E57K|LILRB1_ENST00000324602.7_Missense_Mutation_p.E57K	p.E57K	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	5	526	+			57			Ig-like C2-type 1.		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.169G>A	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.787769	0.31593	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.11495	2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77	2.11	-4.23	0.03789	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.456540	0.01343	N	0.011620	T	0.14830	0.0358	M	0.74881	2.28	0.09310	N	1	P;P;B;B;P	0.43973	0.642;0.823;0.392;0.042;0.604	B;B;B;B;B	0.43194	0.1;0.411;0.083;0.014;0.25	T	0.37244	-0.9714	10	0.41790	T	0.15	.	3.5323	0.07781	0.4702:0.2076:0.3222:0.0	.	57;57;57;57;57	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	K	57;57;57;57;57;57;57;57;93;57;57	ENSP00000379614:E57K;ENSP00000391514:E57K;ENSP00000409968:E57K;ENSP00000379622:E57K;ENSP00000379618:E57K;ENSP00000315997:E57K;ENSP00000405243:E57K;ENSP00000379623:E57K;ENSP00000395004:E93K;ENSP00000379610:E57K;ENSP00000379608:E57K	ENSP00000315997:E57K	E	+	1	0	LILRB1	59834861	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.159000	0.10056	-0.625000	0.05604	0.194000	0.17425	GAG		0.582	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			6	149	0	0	0	1	0	6	149				
NOP14	8602	broad.mit.edu	37	4	2958424	2958424	+	Missense_Mutation	SNP	C	C	T	rs149998901		TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr4:2958424C>T	ENST00000314262.6	-	3	493	c.445G>A	c.(445-447)Gat>Aat	p.D149N	NOP14_ENST00000398071.4_Missense_Mutation_p.D149N|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000502735.1_Missense_Mutation_p.D149N|NOP14_ENST00000416614.2_Missense_Mutation_p.D149N	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	149					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TCCTCAGCATCGCTGTCACTG	0.488																																						ENST00000416614.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						c.(445-447)Gat>Aat		NOP14 nucleolar protein		C	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	190.0	158.0	169.0		445	5.4	0.9	4	dbSNP_134	169	0,8600		0,0,4300	no	missense	NOP14	NM_003703.1	23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	149/858	2958424	1,13005	2203	4300	6503	SO:0001583	missense	8602				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding	g.chr4:2958424C>T	AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.445G>A	4.37:g.2958424C>T	ENSP00000315674:p.Asp149Asn					NOP14_ENST00000314262.6_Missense_Mutation_p.D149N|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000502735.1_Missense_Mutation_p.D149N|NOP14_ENST00000398071.4_Missense_Mutation_p.D149N	p.D149N			P78316	NOP14_HUMAN			3	510	-			149					D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Missense_Mutation	SNP	ENST00000314262.6	37	c.445G>A	CCDS33945.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372488	0.82573	2.27E-4	0.0	ENSG00000087269	ENST00000416614;ENST00000314262;ENST00000502735;ENST00000398071;ENST00000546137	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.41	5.41	0.78517	.	0.050570	0.85682	D	0.000000	T	0.60612	0.2282	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.83275	0.874;0.996	T	0.65360	-0.6187	10	0.87932	D	0	-39.7512	18.8106	0.92056	0.0:1.0:0.0:0.0	.	149;149	E9PFK5;P78316	.;NOP14_HUMAN	N	149;149;149;149;48	ENSP00000405068:D149N;ENSP00000315674:D149N;ENSP00000427415:D149N;ENSP00000381146:D149N	ENSP00000315674:D149N	D	-	1	0	NOP14	2928222	1.000000	0.71417	0.948000	0.38648	0.164000	0.22412	7.598000	0.82745	2.535000	0.85469	0.655000	0.94253	GAT		0.488	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2	NM_003703		18	85	0	0	0	1	0	18	85				
ZNF217	7764	broad.mit.edu	37	20	52192996	52192996	+	Silent	SNP	A	A	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr20:52192996A>T	ENST00000371471.2	-	4	2732	c.2307T>A	c.(2305-2307)tcT>tcA	p.S769S	ZNF217_ENST00000302342.3_Silent_p.S769S|RP4-724E16.2_ENST00000424252.1_RNA			O75362	ZN217_HUMAN	zinc finger protein 217	769					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TACAGAAACTAGAGAGGGGAG	0.562																																						ENST00000371471.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(2305-2307)tcT>tcA		zinc finger protein 217							59.0	57.0	58.0					20																	52192996		2203	4300	6503	SO:0001819	synonymous_variant	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52192996A>T	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.2307T>A	20.37:g.52192996A>T						ZNF217_ENST00000302342.3_Silent_p.S769S	p.S769S			O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		4	2732	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		769					E1P5Y6|Q14DB8	Silent	SNP	ENST00000371471.2	37	c.2307T>A	CCDS13443.1																																																																																				0.562	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		20	45	0	0	0	1	0	20	45				
GRM5	2915	broad.mit.edu	37	11	88780494	88780494	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:88780494T>C	ENST00000305447.4	-	1	696	c.547A>G	c.(547-549)Act>Gct	p.T183A	GRM5_ENST00000305432.5_Missense_Mutation_p.T183A|GRM5_ENST00000418177.2_Missense_Mutation_p.T183A|GRM5_ENST00000455756.2_Missense_Mutation_p.T183A|GRM5_ENST00000393294.3_Missense_Mutation_p.T183A|GRM5_ENST00000393297.1_Missense_Mutation_p.T183A	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	183					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	TTGAACAGAGTCTTGTCACTC	0.473																																						ENST00000418177.2																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(547-549)Act>Gct		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						84.0	72.0	76.0					11																	88780494		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88780494T>C	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.547A>G	11.37:g.88780494T>C	ENSP00000306138:p.Thr183Ala					GRM5_ENST00000305447.4_Missense_Mutation_p.T183A|GRM5_ENST00000393297.1_Missense_Mutation_p.T183A|GRM5_ENST00000393294.3_Missense_Mutation_p.T183A|GRM5_ENST00000305432.5_Missense_Mutation_p.T183A|GRM5_ENST00000455756.2_Missense_Mutation_p.T183A	p.T183A			P41594	GRM5_HUMAN			2	914	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	183					Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.547A>G	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	T	13.23	2.175740	0.38413	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297;ENST00000393294	D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.4	5.4	0.78164	Extracellular ligand-binding receptor (1);	0.203392	0.50627	D	0.000116	T	0.75737	0.3890	L	0.31926	0.97	0.42460	D	0.992789	B;B;B	0.19200	0.004;0.005;0.034	B;B;B	0.22753	0.005;0.011;0.041	T	0.70502	-0.4854	9	.	.	.	.	15.4282	0.75072	0.0:0.0:0.0:1.0	.	183;183;183	A8MT20;P41594-2;P41594	.;.;GRM5_HUMAN	A	183	ENSP00000402912:T183A;ENSP00000405690:T183A;ENSP00000305905:T183A;ENSP00000306138:T183A;ENSP00000376975:T183A;ENSP00000376972:T183A	.	T	-	1	0	GRM5	88420142	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.433000	0.52834	2.033000	0.60031	0.460000	0.39030	ACT		0.473	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		8	68	0	0	0	1	0	8	68				
YEATS2	55689	broad.mit.edu	37	3	183470001	183470001	+	Silent	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr3:183470001G>A	ENST00000305135.5	+	10	1305	c.1110G>A	c.(1108-1110)aaG>aaA	p.K370K		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	370					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CACCAATAAAGCAGTCACATG	0.483																																						ENST00000305135.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(1108-1110)aaG>aaA		YEATS domain containing 2							148.0	140.0	142.0					3																	183470001		1943	4141	6084	SO:0001819	synonymous_variant	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183470001G>A	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.1110G>A	3.37:g.183470001G>A							p.K370K	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		10	1305	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		370					A7E2B9|D3DNS9|Q641P6|Q9NW96	Silent	SNP	ENST00000305135.5	37	c.1110G>A	CCDS43175.1																																																																																				0.483	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		22	191	0	0	0	1	0	22	191				
GPR39	2863	broad.mit.edu	37	2	133403122	133403122	+	Silent	SNP	A	A	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr2:133403122A>T	ENST00000329321.3	+	2	1774	c.1305A>T	c.(1303-1305)tcA>tcT	p.S435S	LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	435					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGCCCAACTCAGGCGCGAAAC	0.522																																						ENST00000329321.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1303-1305)tcA>tcT		G protein-coupled receptor 39							54.0	59.0	57.0					2																	133403122		2203	4300	6503	SO:0001819	synonymous_variant	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133403122A>T	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.1305A>T	2.37:g.133403122A>T						GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	p.S435S	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN			2	1774	+			435					B2RC12|B6V9G4|Q08AS2|Q53R01	Silent	SNP	ENST00000329321.3	37	c.1305A>T	CCDS2170.1																																																																																				0.522	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			9	78	0	0	0	1	0	9	78				
PRRC2A	7916	broad.mit.edu	37	6	31603997	31603997	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr6:31603997T>C	ENST00000376033.2	+	26	5870	c.5636T>C	c.(5635-5637)cTa>cCa	p.L1879P	PRRC2A_ENST00000376007.4_Missense_Mutation_p.L1879P	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1879						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TCACAGCCCCTATACCTACCC	0.517																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(5635-5637)cTa>cCa		proline-rich coiled-coil 2A							112.0	150.0	136.0					6																	31603997		1502	2705	4207	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31603997T>C	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.5636T>C	6.37:g.31603997T>C	ENSP00000365201:p.Leu1879Pro					PRRC2A_ENST00000376007.4_Missense_Mutation_p.L1879P	p.L1879P	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			26	5870	+			1879					B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.5636T>C	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	T	10.57	1.386049	0.25031	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.02015	4.5;4.5	5.25	5.25	0.73442	.	0.000000	0.40818	N	0.001007	T	0.04679	0.0127	L	0.48642	1.525	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	T	0.33854	-0.9852	10	0.87932	D	0	-8.27	12.7845	0.57496	0.0:0.0:0.0:1.0	.	1879	P48634	PRC2A_HUMAN	P	1871;1860;1879;1879;1104	ENSP00000365175:L1879P;ENSP00000365201:L1879P	ENSP00000365175:L1879P	L	+	2	0	PRRC2A	31711976	0.996000	0.38824	0.927000	0.36925	0.932000	0.56968	3.365000	0.52335	2.207000	0.71202	0.460000	0.39030	CTA		0.517	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		4	220	0	0	0	1	0	4	220				
OR10AG1	282770	broad.mit.edu	37	11	55735735	55735735	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:55735735T>G	ENST00000312345.2	-	1	255	c.205A>C	c.(205-207)Atc>Ctc	p.I69L		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					ATTCTTGGGATAATGATTGTT	0.353																																						ENST00000312345.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(205-207)Atc>Ctc		olfactory receptor, family 10, subfamily AG, member 1							68.0	76.0	73.0					11																	55735735		2201	4295	6496	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735735T>G	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.205A>C	11.37:g.55735735T>G	ENSP00000311477:p.Ile69Leu						p.I69L	NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN			1	255	-	Esophageal squamous(21;0.0137)		69					B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.205A>C	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	T	0.122	-1.124566	0.01770	.	.	ENSG00000174970	ENST00000312345	T	0.04809	3.55	5.47	-6.4	0.01944	GPCR, rhodopsin-like superfamily (1);	0.859602	0.10066	N	0.720254	T	0.01695	0.0054	N	0.02865	-0.47	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.48658	-0.9016	10	0.22109	T	0.4	.	7.6322	0.28247	0.0:0.2767:0.4591:0.2642	.	69	Q8NH19	O10AG_HUMAN	L	69	ENSP00000311477:I69L	ENSP00000311477:I69L	I	-	1	0	OR10AG1	55492311	0.000000	0.05858	0.000000	0.03702	0.351000	0.29236	-3.826000	0.00356	-0.880000	0.03997	0.391000	0.25812	ATC		0.353	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		16	77	0	0	0	1	0	16	77				
DCBLD1	285761	broad.mit.edu	37	6	117861858	117861858	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr6:117861858G>A	ENST00000338728.5	+	10	1249	c.1129G>A	c.(1129-1131)Gac>Aac	p.D377N	DCBLD1_ENST00000368503.4_Intron|GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Missense_Mutation_p.D377N|DCBLD1_ENST00000534777.1_3'UTR			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	377	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		TAACTTTCGGGACCCAGTGCA	0.443																																						ENST00000338728.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1129-1131)Gac>Aac		discoidin, CUB and LCCL domain containing 1							121.0	122.0	121.0					6																	117861858		2203	4300	6503	SO:0001583	missense	285761				cell adhesion	integral to membrane		g.chr6:117861858G>A	AK055462	CCDS34522.1	6q22.31	2003-06-20			ENSG00000164465	ENSG00000164465			21479	protein-coding gene	gene with protein product							Standard	NM_173674		Approved	MGC46341, dJ94G16.1	uc003pxs.3	Q8N8Z6	OTTHUMG00000015455	ENST00000338728.5:c.1129G>A	6.37:g.117861858G>A	ENSP00000342422:p.Asp377Asn					GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000368503.4_Intron|DCBLD1_ENST00000296955.8_Missense_Mutation_p.D377N|DCBLD1_ENST00000534777.1_3'UTR	p.D377N			Q8N8Z6	DCBD1_HUMAN		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)	10	1249	+		all_cancers(87;0.171)	377			F5/8 type C.		Q5H992|Q8IYK5|Q8N7L9|Q96NH2	Missense_Mutation	SNP	ENST00000338728.5	37	c.1129G>A		.	.	.	.	.	.	.	.	.	.	G	19.58	3.854307	0.71719	.	.	ENSG00000164465	ENST00000296955;ENST00000392504;ENST00000338728	D;D	0.98207	-4.79;-4.79	4.54	4.54	0.55810	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.120872	0.53938	D	0.000053	D	0.97607	0.9216	L	0.46947	1.48	0.80722	D	1	P;D	0.61080	0.758;0.989	P;D	0.64595	0.494;0.927	D	0.97523	1.0074	10	0.51188	T	0.08	-22.2023	11.999	0.53220	0.0838:0.0:0.9162:0.0	.	377;377	Q8N8Z6-2;Q8N8Z6	.;DCBD1_HUMAN	N	377;32;377	ENSP00000296955:D377N;ENSP00000342422:D377N	ENSP00000296955:D377N	D	+	1	0	DCBLD1	117968551	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.814000	0.48010	2.364000	0.80123	0.561000	0.74099	GAC		0.443	DCBLD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000041979.2	NM_173674		25	110	0	0	0	1	0	25	110				
TEX33	339669	broad.mit.edu	37	22	37387530	37387530	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr22:37387530T>A	ENST00000405091.2	-	6	988	c.737A>T	c.(736-738)gAt>gTt	p.D246V	TEX33_ENST00000402860.3_Missense_Mutation_p.D161V|TEX33_ENST00000381821.1_Missense_Mutation_p.D246V			O43247	TEX33_HUMAN	testis expressed 33	246																	ACCCAGATCATCCGTCTTCCT	0.547																																						ENST00000405091.2																			0											c.(736-738)gAt>gTt		testis expressed 33							179.0	147.0	158.0					22																	37387530		2203	4300	6503	SO:0001583	missense	339669							g.chr22:37387530T>A	BC042635	CCDS13937.1, CCDS54524.1	22q12.3	2013-10-11	2012-02-16	2012-02-16	ENSG00000185264	ENSG00000185264			28568	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 33"""	C22orf33		22332119	Standard	NM_178552		Approved	MGC35206, EAN57	uc003aqf.3	O43247	OTTHUMG00000150531	ENST00000405091.2:c.737A>T	22.37:g.37387530T>A	ENSP00000386118:p.Asp246Val					TEX33_ENST00000402860.3_Missense_Mutation_p.D161V|TEX33_ENST00000381821.1_Missense_Mutation_p.D246V	p.D246V			O43247	EAN57_HUMAN			6	988	-			246					B1AH46|Q6ICF2|Q8IVQ2|Q9Y4V8	Missense_Mutation	SNP	ENST00000405091.2	37	c.737A>T	CCDS54524.1	.	.	.	.	.	.	.	.	.	.	T	18.48	3.633189	0.67015	.	.	ENSG00000185264	ENST00000402860;ENST00000405091;ENST00000381821	.	.	.	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000014	T	0.65069	0.2656	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68303	-0.5444	9	0.87932	D	0	-16.357	11.5795	0.50883	0.0:0.0:0.0:1.0	.	246	O43247	EAN57_HUMAN	V	161;246;246	.	ENSP00000371243:D246V	D	-	2	0	C22orf33	35717476	1.000000	0.71417	0.998000	0.56505	0.818000	0.46254	2.758000	0.47565	2.044000	0.60594	0.460000	0.39030	GAT		0.547	TEX33-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318778.2	NM_178552		37	128	0	0	0	1	0	37	128				
TAS2R46	259292	broad.mit.edu	37	12	11214007	11214007	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr12:11214007T>C	ENST00000533467.1	-	1	886	c.887A>G	c.(886-888)cAt>cGt	p.H296R	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	296				HV -> QM (in Ref. 3). {ECO:0000305}.	detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		GTACCTCACATGCCACAAAAC	0.418																																						ENST00000533467.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						c.(886-888)cAt>cGt		taste receptor, type 2, member 46							184.0	185.0	185.0					12																	11214007		2038	4240	6278	SO:0001583	missense	259292				sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity	g.chr12:11214007T>C	AF494227	CCDS53748.1	12p13.2	2012-08-22				ENSG00000226761		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18877	protein-coding gene	gene with protein product		612774				12379855	Standard	NM_176887		Approved	T2R54	uc001qzp.1	P59540		ENST00000533467.1:c.887A>G	12.37:g.11214007T>C	ENSP00000436450:p.His296Arg					PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	p.H296R	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)	1	886	-			296	HV -> QM (in Ref. 3).				P59548|Q645X6	Missense_Mutation	SNP	ENST00000533467.1	37	c.887A>G	CCDS53748.1	.	.	.	.	.	.	.	.	.	.	T	2.410	-0.335678	0.05278	.	.	ENSG00000226761	ENST00000533467	T	0.34072	1.38	2.54	1.28	0.21552	.	.	.	.	.	T	0.24661	0.0598	L	0.33339	1.005	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20371	-1.0277	9	0.45353	T	0.12	.	5.9656	0.19322	0.2324:0.0:0.0:0.7676	.	296	P59540	T2R46_HUMAN	R	296	ENSP00000436450:H296R	ENSP00000436450:H296R	H	-	2	0	TAS2R46	11105274	0.022000	0.18835	0.003000	0.11579	0.065000	0.16274	0.844000	0.27654	0.197000	0.20387	0.163000	0.16589	CAT		0.418	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383559.1	NM_176887		8	198	0	0	0	1	0	8	198				
NPHP4	261734	broad.mit.edu	37	1	5923971	5923971	+	Silent	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:5923971C>T	ENST00000378156.4	-	29	4384	c.4119G>A	c.(4117-4119)cgG>cgA	p.R1373R	MIR4689_ENST00000582517.1_RNA|NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1373					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCTCTGAACCGCAGCAGCT	0.622																																						ENST00000378156.4																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(4117-4119)cgG>cgA		nephronophthisis 4							72.0	82.0	78.0					1																	5923971		1962	4147	6109	SO:0001819	synonymous_variant	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5923971C>T	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.4119G>A	1.37:g.5923971C>T						NPHP4_ENST00000478423.2_5'UTR	p.R1373R	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	29	4384	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	1373					Q8IWC0	Silent	SNP	ENST00000378156.4	37	c.4119G>A	CCDS44052.1																																																																																				0.622	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			12	45	0	0	0	1	0	12	45				
ABL1	25	broad.mit.edu	37	9	133750435	133750435	+	Silent	SNP	C	C	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr9:133750435C>A	ENST00000318560.5	+	7	1647	c.1266C>A	c.(1264-1266)gtC>gtA	p.V422V		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	422	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)	p.?(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	AGTCCGACGTCTGGGGTAAGG	0.527			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"""T, Mis"""	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"""BCR, ETV6, NUP214"""		"""CML, ALL, T-ALL"""		1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(1264-1266)gtC>gtA		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						69.0	53.0	58.0					9																	133750435		2203	4300	6503	SO:0001819	synonymous_variant	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133750435C>A	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1266C>A	9.37:g.133750435C>A							p.V422V	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	7	1647	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	422			Protein kinase.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Silent	SNP	ENST00000318560.5	37	c.1266C>A	CCDS35166.1																																																																																				0.527	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		9	73	1	0	0.000274275	1	0.000288431	9	73				
OR2AG1	144125	broad.mit.edu	37	11	6806382	6806382	+	Silent	SNP	C	C	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:6806382C>A	ENST00000307401.4	+	1	135	c.114C>A	c.(112-114)gcC>gcA	p.A38A		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACTTGTTGGCCCTGATCAGCA	0.527																																						ENST00000307401.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(112-114)gcC>gcA		olfactory receptor, family 2, subfamily AG, member 1							178.0	171.0	173.0					11																	6806382		2201	4296	6497	SO:0001819	synonymous_variant	144125				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6806382C>A	AB065823	CCDS31414.1	11p15.4	2012-08-09			ENSG00000170803	ENSG00000170803		"""GPCR / Class A : Olfactory receptors"""	15142	protein-coding gene	gene with protein product				OR2AG3			Standard	NM_001004489		Approved		uc001mer.2	Q9H205	OTTHUMG00000165735	ENST00000307401.4:c.114C>A	11.37:g.6806382C>A							p.A38A	NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	135	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	38					B9EKV7|Q6IFG7|Q96R26	Silent	SNP	ENST00000307401.4	37	c.114C>A	CCDS31414.1																																																																																				0.527	OR2AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385980.1	NM_001004489		4	96	1	0	1.76689e-08	1	1.90731e-08	4	96				
WDR53	348793	broad.mit.edu	37	3	196281517	196281517	+	Silent	SNP	A	A	G			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr3:196281517A>G	ENST00000332629.5	-	4	1209	c.642T>C	c.(640-642)tgT>tgC	p.C214C	WDR53_ENST00000433160.1_Silent_p.C55C|WDR53_ENST00000429115.1_Silent_p.C53C	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	214										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		CTTCTGCACCACAACTAAAAA	0.478																																						ENST00000332629.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13						c.(640-642)tgT>tgC		WD repeat domain 53							212.0	223.0	219.0					3																	196281517		2203	4300	6503	SO:0001819	synonymous_variant	348793							g.chr3:196281517A>G	BC054030	CCDS3318.1	3q29	2013-01-09			ENSG00000185798	ENSG00000185798		"""WD repeat domain containing"""	28786	protein-coding gene	gene with protein product		615110				12477932	Standard	NM_182627		Approved	MGC64882, MGC12928	uc003fwt.3	Q7Z5U6	OTTHUMG00000155572	ENST00000332629.5:c.642T>C	3.37:g.196281517A>G						WDR53_ENST00000433160.1_Silent_p.C55C|WDR53_ENST00000429115.1_Silent_p.C53C	p.C214C	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)	4	1209	-	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		214					A0MNP1	Silent	SNP	ENST00000332629.5	37	c.642T>C	CCDS3318.1																																																																																				0.478	WDR53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340689.1	NM_182627		294	284	0	0	0	1	0	294	284				
SGSH	6448	broad.mit.edu	37	17	78184575	78184575	+	Silent	SNP	G	G	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr17:78184575G>T	ENST00000326317.6	-	8	1271	c.1185C>A	c.(1183-1185)ccC>ccA	p.P395P	SGSH_ENST00000534910.1_Silent_p.P192P	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	395					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CGATGGGAAAGGGCATCTTGA	0.617																																						ENST00000326317.6																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(1183-1185)ccC>ccA		N-sulfoglucosamine sulfohydrolase							213.0	190.0	198.0					17																	78184575		2203	4300	6503	SO:0001819	synonymous_variant	6448				proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity	g.chr17:78184575G>T	BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"""sulfamidase"", ""mucopolysaccharidosis type IIIA"""	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688		ENST00000326317.6:c.1185C>A	17.37:g.78184575G>T						SGSH_ENST00000534910.1_Silent_p.P192P	p.P395P	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		8	1271	-	all_neural(118;0.0952)		395					A8K5E2	Silent	SNP	ENST00000326317.6	37	c.1185C>A	CCDS11770.1																																																																																				0.617	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199		4	162	1	0	0.014758	1	0.0151293	4	162				
OR2AG1	144125	broad.mit.edu	37	11	6806400	6806400	+	Silent	SNP	A	A	G			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:6806400A>G	ENST00000307401.4	+	1	153	c.132A>G	c.(130-132)ctA>ctG	p.L44L		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCAATGGCCTACTGCTCCTGG	0.517																																						ENST00000307401.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(130-132)ctA>ctG		olfactory receptor, family 2, subfamily AG, member 1							186.0	175.0	179.0					11																	6806400		2201	4296	6497	SO:0001819	synonymous_variant	144125				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6806400A>G	AB065823	CCDS31414.1	11p15.4	2012-08-09			ENSG00000170803	ENSG00000170803		"""GPCR / Class A : Olfactory receptors"""	15142	protein-coding gene	gene with protein product				OR2AG3			Standard	NM_001004489		Approved		uc001mer.2	Q9H205	OTTHUMG00000165735	ENST00000307401.4:c.132A>G	11.37:g.6806400A>G							p.L44L	NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	153	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	44					B9EKV7|Q6IFG7|Q96R26	Silent	SNP	ENST00000307401.4	37	c.132A>G	CCDS31414.1																																																																																				0.517	OR2AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385980.1	NM_001004489		4	105	0	0	0	1	0	4	105				
OR4P4	81300	broad.mit.edu	37	11	55406374	55406374	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:55406374C>A	ENST00000314612.2	+	1	541	c.541C>A	c.(541-543)Cct>Act	p.P181T		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TGATGTGTATCCTTTGCTGAA	0.383																																						ENST00000314612.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						c.(541-543)Cct>Act		olfactory receptor, family 4, subfamily P, member 4							111.0	92.0	99.0					11																	55406374		2179	4011	6190	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406374C>A	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.541C>A	11.37:g.55406374C>A	ENSP00000324831:p.Pro181Thr						p.P181T	NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN			1	541	+			181						Missense_Mutation	SNP	ENST00000314612.2	37	c.541C>A	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630320	0.46944	.	.	ENSG00000181927	ENST00000314612	T	0.00216	8.53	5.51	3.62	0.41486	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40640	N	0.001043	T	0.00784	0.0026	H	0.94345	3.525	0.09310	N	1	D	0.59357	0.985	D	0.67900	0.954	T	0.10337	-1.0634	10	0.72032	D	0.01	-13.3745	13.7431	0.62860	0.2802:0.7198:0.0:0.0	.	181	Q8NGL7	OR4P4_HUMAN	T	181	ENSP00000324831:P181T	ENSP00000324831:P181T	P	+	1	0	OR4P4	55162950	0.003000	0.15002	0.970000	0.41538	0.787000	0.44495	0.547000	0.23299	0.668000	0.31126	0.637000	0.83480	CCT		0.383	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		12	14	1	0	0.0167234	1	0.0169311	12	14				
CLK4	57396	broad.mit.edu	37	5	178030700	178030700	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr5:178030700A>T	ENST00000316308.4	-	13	1532	c.1364T>A	c.(1363-1365)aTg>aAg	p.M455K		NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	455	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		ATATTCTAACATTCTTCGAAC	0.323																																						ENST00000316308.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21						c.(1363-1365)aTg>aAg		CDC-like kinase 4							92.0	89.0	90.0					5																	178030700		2203	4300	6503	SO:0001583	missense	57396					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr5:178030700A>T	AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"""CDC-like kinases"""	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.1364T>A	5.37:g.178030700A>T	ENSP00000316948:p.Met455Lys						p.M455K	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)	13	1532	-	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	455			Protein kinase.			Missense_Mutation	SNP	ENST00000316308.4	37	c.1364T>A	CCDS4437.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.102435	0.76983	.	.	ENSG00000113240	ENST00000316308;ENST00000536763	T	0.23348	1.91	5.13	5.13	0.70059	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.039445	0.85682	D	0.000000	T	0.63331	0.2502	H	0.95982	3.75	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.91635	0.999;0.995	T	0.75448	-0.3314	10	0.87932	D	0	.	12.8753	0.57988	1.0:0.0:0.0:0.0	.	455;455	B9EG64;Q9HAZ1	.;CLK4_HUMAN	K	455;347	ENSP00000316948:M455K	ENSP00000316948:M455K	M	-	2	0	CLK4	177963306	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.832000	0.92079	1.916000	0.55485	0.482000	0.46254	ATG		0.323	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253479.2			7	28	0	0	0	1	0	7	28				
IL16	3603	broad.mit.edu	37	15	81591754	81591754	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr15:81591754T>G	ENST00000302987.4	+	13	2087	c.2087T>G	c.(2086-2088)cTt>cGt	p.L696R	IL16_ENST00000394652.2_5'UTR|IL16_ENST00000560230.1_Intron|IL16_ENST00000394660.2_Missense_Mutation_p.L696R			Q14005	IL16_HUMAN	interleukin 16	696					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CACCCACTGCTTAAGAGGCAG	0.443																																						ENST00000394660.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(2086-2088)cTt>cGt		interleukin 16							229.0	243.0	238.0					15																	81591754		2203	4300	6503	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81591754T>G	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.2087T>G	15.37:g.81591754T>G	ENSP00000302935:p.Leu696Arg					IL16_ENST00000560230.1_Intron|IL16_ENST00000302987.4_Missense_Mutation_p.L696R|IL16_ENST00000394652.2_5'UTR	p.L696R	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			14	2447	+			696					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.2087T>G	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.039568	0.75732	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000329842;ENST00000394653	T;T	0.20069	2.1;2.1	5.25	5.25	0.73442	.	0.000000	0.39020	N	0.001487	T	0.47600	0.1454	M	0.74258	2.255	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.998;0.998;0.998;0.999	T	0.51593	-0.8686	10	0.87932	D	0	.	15.147	0.72662	0.0:0.0:0.0:1.0	.	190;233;86;696;696	Q6ZTT5;B7Z8M3;B3KY62;Q14005;Q14005-2	.;.;.;IL16_HUMAN;.	R	696;528;696;233;86	ENSP00000378155:L696R;ENSP00000302935:L696R	ENSP00000302935:L696R	L	+	2	0	IL16	79378809	1.000000	0.71417	0.591000	0.28745	0.704000	0.40688	6.340000	0.72973	1.975000	0.57531	0.482000	0.46254	CTT		0.443	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		4	261	0	0	0	1	0	4	261				
LGR6	59352	broad.mit.edu	37	1	202194570	202194570	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:202194570C>A	ENST00000367278.3	+	2	321	c.232C>A	c.(232-234)Ctc>Atc	p.L78I	LGR6_ENST00000255432.7_Missense_Mutation_p.L26I|LGR6_ENST00000439764.2_Missense_Mutation_p.L35I	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	78					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CATGAACAACCTCACAGAGCT	0.577																																						ENST00000367278.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						c.(232-234)Ctc>Atc		leucine-rich repeat containing G protein-coupled receptor 6							129.0	121.0	124.0					1																	202194570		2203	4300	6503	SO:0001583	missense	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202194570C>A	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.232C>A	1.37:g.202194570C>A	ENSP00000356247:p.Leu78Ile					LGR6_ENST00000439764.2_Missense_Mutation_p.L35I|LGR6_ENST00000255432.7_Missense_Mutation_p.L26I	p.L78I	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN			2	321	+			78					Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	ENST00000367278.3	37	c.232C>A	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	C	2.562	-0.301586	0.05495	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000367277;ENST00000423542;ENST00000439764	T;T;T;T	0.30182	3.47;3.47;1.76;1.54	4.58	3.58	0.41010	.	0.089378	0.46442	D	0.000299	T	0.25606	0.0623	N	0.25485	0.75	0.29644	N	0.844501	D;B;B	0.54207	0.965;0.01;0.014	P;B;B	0.54460	0.753;0.013;0.047	T	0.06092	-1.0846	10	0.02654	T	1	.	9.3699	0.38248	0.213:0.787:0.0:0.0	.	35;26;78	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	I	78;26;4;4;35	ENSP00000356247:L78I;ENSP00000255432:L26I;ENSP00000402284:L4I;ENSP00000387869:L35I	ENSP00000255432:L26I	L	+	1	0	LGR6	200461193	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.030000	0.49720	2.248000	0.74166	0.650000	0.86243	CTC		0.577	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		25	131	1	0	2.08457e-15	1	2.42703e-15	25	131				
MGAM	8972	broad.mit.edu	37	7	141750510	141750510	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr7:141750510T>A	ENST00000549489.2	+	24	2746	c.2651T>A	c.(2650-2652)gTg>gAg	p.V884E	MGAM_ENST00000475668.2_Missense_Mutation_p.V884E	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	884	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CGCTTGGAGGTGAATATTTCA	0.378																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(2650-2652)gTg>gAg		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						64.0	56.0	58.0					7																	141750510		1826	4077	5903	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141750510T>A	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.2651T>A	7.37:g.141750510T>A	ENSP00000447378:p.Val884Glu					MGAM_ENST00000549489.2_Missense_Mutation_p.V884E	p.V884E			O43451	MGA_HUMAN			24	2705	+	Melanoma(164;0.0272)		884			Maltase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.2651T>A	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	T	16.69	3.194237	0.58017	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.89746	-2.56	5.67	4.52	0.55395	.	0.463445	0.18411	N	0.142046	D	0.89976	0.6871	M	0.76170	2.325	0.27735	N	0.944671	B	0.29253	0.239	B	0.41332	0.354	T	0.82068	-0.0640	10	0.28530	T	0.3	.	10.7711	0.46323	0.0:0.0758:0.0:0.9242	.	884	O43451	MGA_HUMAN	E	884;884;761	ENSP00000447378:V884E	ENSP00000316431:V761E	V	+	2	0	MGAM	141396979	0.687000	0.27671	0.402000	0.26371	0.742000	0.42306	3.265000	0.51561	0.997000	0.38969	0.374000	0.22700	GTG		0.378	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			5	20	0	0	0	1	0	5	20				
ANO9	338440	broad.mit.edu	37	11	419731	419731	+	Splice_Site	SNP	T	T	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:419731T>A	ENST00000332826.6	-	20	1871		c.e20-2		SIGIRR_ENST00000382520.2_5'Flank|SIGIRR_ENST00000332725.3_5'Flank|SIGIRR_ENST00000397632.3_5'Flank	NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9						calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						GCCAGGTCCCTGCACCAGAGC	0.642																																						ENST00000332826.6																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						c.e20-2		anoctamin 9							101.0	81.0	88.0					11																	419731		2202	4300	6502	SO:0001630	splice_region_variant	338440					chloride channel complex	chloride channel activity	g.chr11:419731T>A	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.1787-2A>T	11.37:g.419731T>A								NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN			20	1871	-								B3KUC4|B4E134|Q8TEN4	Splice_Site	SNP	ENST00000332826.6	37		CCDS31326.1	.	.	.	.	.	.	.	.	.	.	T	12.94	2.088280	0.36855	.	.	ENSG00000185101	ENST00000332826	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9652	0.64205	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANO9	409731	1.000000	0.71417	0.960000	0.40013	0.209000	0.24338	7.693000	0.84214	1.762000	0.52044	0.379000	0.24179	.		0.642	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302	Intron	13	38	0	0	0	1	0	13	38				
VIM	7431	broad.mit.edu	37	10	17278316	17278316	+	Silent	SNP	C	C	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr10:17278316C>T	ENST00000224237.5	+	8	1442	c.1297C>T	c.(1297-1299)Ctg>Ttg	p.L433L	RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000544301.1_Silent_p.L433L			P08670	VIME_HUMAN	vimentin	433	Tail.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)	p.L433M(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTCACTCCCTCTGGTTGATAC	0.353																																						ENST00000544301.1																			1	Substitution - Missense(1)	p.L433M(1)	pancreas(1)	NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1297-1299)Ctg>Ttg		vimentin							149.0	164.0	159.0					10																	17278316		2203	4300	6503	SO:0001819	synonymous_variant	7431				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	g.chr10:17278316C>T	M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.1297C>T	10.37:g.17278316C>T						VIM_ENST00000224237.5_Silent_p.L433L	p.L433L	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN			9	1710	+			433			Tail.		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Silent	SNP	ENST00000224237.5	37	c.1297C>T	CCDS7120.1																																																																																				0.353	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	NM_003380		18	139	0	0	0	1	0	18	139				
PRDM14	63978	broad.mit.edu	37	8	70967548	70967548	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr8:70967548A>G	ENST00000276594.2	-	7	1676	c.1475T>C	c.(1474-1476)gTg>gCg	p.V492A		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	492					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			AGTACAATACACACACTGGTA	0.423																																					NSCLC(129;99 1813 5906 40656 46114)	ENST00000276594.2																			0				NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1474-1476)gTg>gCg		PR domain containing 14							200.0	163.0	176.0					8																	70967548		2203	4300	6503	SO:0001583	missense	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70967548A>G	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.1475T>C	8.37:g.70967548A>G	ENSP00000276594:p.Val492Ala						p.V492A	NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		7	1676	-	Breast(64;0.193)		492					Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	37	c.1475T>C	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	A	18.74	3.689388	0.68271	.	.	ENSG00000147596	ENST00000276594	T	0.17691	2.26	5.94	4.78	0.61160	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.17195	0.0413	N	0.10809	0.05	0.58432	D	0.999993	D	0.63046	0.992	P	0.62649	0.905	T	0.08785	-1.0705	10	0.08837	T	0.75	-23.2578	11.9525	0.52962	0.9324:0.0:0.0676:0.0	.	492	Q9GZV8	PRD14_HUMAN	A	492	ENSP00000276594:V492A	ENSP00000276594:V492A	V	-	2	0	PRDM14	71130102	1.000000	0.71417	0.983000	0.44433	0.972000	0.66771	8.938000	0.92943	1.072000	0.40860	0.460000	0.39030	GTG		0.423	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			7	44	0	0	0	1	0	7	44				
AMBP	259	broad.mit.edu	37	9	116823781	116823781	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr9:116823781A>G	ENST00000265132.3	-	8	1038	c.776T>C	c.(775-777)tTc>tCc	p.F259S		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	259	BPTI/Kunitz inhibitor 1. {ECO:0000255|PROSITE-ProRule:PRU00031}.				cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GCCGTACTGGAAAGTCTCACA	0.577																																						ENST00000265132.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11						c.(775-777)tTc>tCc		alpha-1-microglobulin/bikunin precursor	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						80.0	75.0	77.0					9																	116823781		2203	4300	6503	SO:0001583	missense	259				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	g.chr9:116823781A>G	X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"""Lipocalins"""	453	protein-coding gene	gene with protein product	"""growth-inhibiting protein 19"", ""uristatin"", ""complex-forming glycoprotein heterogeneous in charge"", ""bikunin"", ""inter-alpha-trypsin inhibitor light chain"", ""protein HC"", ""uronic-acid-rich protein"", ""trypstatin"""	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.776T>C	9.37:g.116823781A>G	ENSP00000265132:p.Phe259Ser						p.F259S	NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN			8	1038	-			259			BPTI/Kunitz inhibitor 1.		P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Missense_Mutation	SNP	ENST00000265132.3	37	c.776T>C	CCDS6800.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.657630	0.88154	.	.	ENSG00000106927	ENST00000265132;ENST00000540645	T	0.69561	-0.41	5.5	5.5	0.81552	Proteinase inhibitor I2, Kunitz metazoa (6);Proteinase inhibitor I2, Kunitz, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.89556	0.6749	H	0.99545	4.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93517	0.6858	10	0.87932	D	0	.	13.5565	0.61761	1.0:0.0:0.0:0.0	.	200;259	B7Z8R6;P02760	.;AMBP_HUMAN	S	259;200	ENSP00000265132:F259S	ENSP00000265132:F259S	F	-	2	0	AMBP	115863602	1.000000	0.71417	0.874000	0.34290	0.903000	0.53119	8.193000	0.89719	2.067000	0.61834	0.533000	0.62120	TTC		0.577	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633		34	75	0	0	0	1	0	34	75				
SIN3B	23309	broad.mit.edu	37	19	16957917	16957917	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr19:16957917G>A	ENST00000248054.5	+	5	740	c.719G>A	c.(718-720)cGg>cAg	p.R240Q	SIN3B_ENST00000379803.1_Missense_Mutation_p.R240Q|SIN3B_ENST00000596802.1_Missense_Mutation_p.R240Q|CTD-2538G9.5_ENST00000600987.1_RNA					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GAAGCCAAGCGGTCTCTGGTG	0.652																																						ENST00000379803.1																			0				endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(718-720)cGg>cAg		SIN3 transcription regulator family member B							58.0	57.0	57.0					19																	16957917		2203	4300	6503	SO:0001583	missense	23309				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	g.chr19:16957917G>A	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.719G>A	19.37:g.16957917G>A	ENSP00000248054:p.Arg240Gln					SIN3B_ENST00000596802.1_Missense_Mutation_p.R240Q|SIN3B_ENST00000248054.5_Missense_Mutation_p.R240Q	p.R240Q	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN			5	733	+			240						Missense_Mutation	SNP	ENST00000248054.5	37	c.719G>A		.	.	.	.	.	.	.	.	.	.	G	23.3	4.396753	0.83120	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.40476	1.03;1.03	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.55878	0.1948	L	0.57536	1.79	0.58432	D	0.999996	P;B;D	0.76494	0.773;0.307;0.999	B;B;D	0.63283	0.161;0.056;0.913	T	0.50482	-0.8823	10	0.15499	T	0.54	-14.093	16.6901	0.85319	0.0:0.0:1.0:0.0	.	240;240;240	O75182-2;O75182;O75182-3	.;SIN3B_HUMAN;.	Q	240	ENSP00000369131:R240Q;ENSP00000248054:R240Q	ENSP00000248054:R240Q	R	+	2	0	SIN3B	16818917	1.000000	0.71417	0.993000	0.49108	0.782000	0.44232	7.653000	0.83643	2.203000	0.70933	0.561000	0.74099	CGG		0.652	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		4	67	0	0	0	1	0	4	67				
TTN	7273	broad.mit.edu	37	2	179666894	179666894	+	Missense_Mutation	SNP	G	G	A	rs200165636		TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr2:179666894G>A	ENST00000591111.1	-	3	490	c.266C>T	c.(265-267)gCg>gTg	p.A89V	TTN_ENST00000359218.5_Missense_Mutation_p.A89V|TTN_ENST00000589042.1_Missense_Mutation_p.A89V|TTN_ENST00000342992.6_Missense_Mutation_p.A89V|TTN_ENST00000360870.5_Missense_Mutation_p.A89V|TTN_ENST00000342175.6_Missense_Mutation_p.A89V|TTN_ENST00000460472.2_Missense_Mutation_p.A89V			Q8WZ42	TITIN_HUMAN	titin	32701	Ig-like 1.				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)			AGTACTAGTCGCTTGTCCAGA	0.547																																						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.(265-267)gCg>gTg		titin							165.0	148.0	154.0					2																	179666894		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179666894G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.266C>T	2.37:g.179666894G>A	ENSP00000465570:p.Ala89Val					TTN_ENST00000342992.6_Missense_Mutation_p.A89V|TTN_ENST00000591111.1_Missense_Mutation_p.A89V|TTN_ENST00000359218.5_Missense_Mutation_p.A89V|TTN_ENST00000342175.6_Missense_Mutation_p.A89V|TTN_ENST00000460472.2_Missense_Mutation_p.A89V|TTN_ENST00000360870.5_Missense_Mutation_p.A89V	p.A89V	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)		3	490	-			89			Ig-like 1.		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.266C>T		.	.	.	.	.	.	.	.	.	.	G	19.94	3.920217	0.73098	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.74	5.74	0.90152	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79131	0.4394	L	0.48218	1.51	0.49130	D	0.999753	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;0.998;0.998;0.998	T	0.79792	-0.1654	9	0.87932	D	0	.	19.9189	0.97077	0.0:0.0:1.0:0.0	.	89;89;89;89;89	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	V	89	ENSP00000343764:A89V;ENSP00000434586:A89V;ENSP00000340554:A89V;ENSP00000352154:A89V;ENSP00000354117:A89V	ENSP00000340554:A89V	A	-	2	0	TTN	179375139	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.756000	0.98918	2.707000	0.92482	0.655000	0.94253	GCG		0.547	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		22	122	0	0	0	1	0	22	122				
CAV1	857	broad.mit.edu	37	7	116166689	116166689	+	Silent	SNP	G	G	A			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr7:116166689G>A	ENST00000341049.2	+	2	419	c.141G>A	c.(139-141)aaG>aaA	p.K47K	CAV1_ENST00000393468.1_Silent_p.K16K|CAV1_ENST00000405348.1_Silent_p.K16K|CAV1_ENST00000393467.1_Silent_p.K16K|CAV1_ENST00000393470.1_Silent_p.K36K	NM_001753.4	NP_001744.2	Q03135	CAV1_HUMAN	caveolin 1, caveolae protein, 22kDa	47					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|caveola assembly (GO:0070836)|caveolin-mediated endocytosis (GO:0072584)|cellular calcium ion homeostasis (GO:0006874)|cellular response to hyperoxia (GO:0071455)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol transport (GO:0030301)|cytosolic calcium ion homeostasis (GO:0051480)|inactivation of MAPK activity (GO:0000188)|lactation (GO:0007595)|leukocyte migration (GO:0050900)|lipid storage (GO:0019915)|maintenance of protein location in cell (GO:0032507)|mammary gland development (GO:0030879)|mammary gland involution (GO:0060056)|MAPK cascade (GO:0000165)|membrane depolarization (GO:0051899)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of pinocytosis (GO:0048550)|negative regulation of protein binding (GO:0032091)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|nitric oxide homeostasis (GO:0033484)|nitric oxide metabolic process (GO:0046209)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of vasoconstriction (GO:0045907)|protein homooligomerization (GO:0051260)|protein localization (GO:0008104)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)|regulation of blood coagulation (GO:0030193)|regulation of fatty acid metabolic process (GO:0019217)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidase activity (GO:0052547)|regulation of smooth muscle contraction (GO:0006940)|regulation of the force of heart contraction by chemical signal (GO:0003057)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to ischemia (GO:0002931)|response to progesterone (GO:0032570)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|vasculogenesis (GO:0001570)|vasoconstriction (GO:0042310)|vesicle organization (GO:0016050)|viral process (GO:0016032)	acrosomal membrane (GO:0002080)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell cortex (GO:0005938)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cholesterol binding (GO:0015485)|enzyme binding (GO:0019899)|nitric-oxide synthase binding (GO:0050998)|patched binding (GO:0005113)|peptidase activator activity (GO:0016504)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4	all_epithelial(6;1.42e-06)|Lung NSC(10;0.0056)|all_lung(10;0.00609)		STAD - Stomach adenocarcinoma(10;0.00878)			CGCACACCAAGGAGATCGACC	0.577											OREG0018273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000341049.2																			0				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						c.(139-141)aaG>aaA		caveolin 1, caveolae protein, 22kDa							242.0	166.0	191.0					7																	116166689		2203	4300	6503	SO:0001819	synonymous_variant	857				blood coagulation|calcium ion transport|caveola assembly|cellular response to starvation|cholesterol homeostasis|cytosolic calcium ion homeostasis|inactivation of MAPK activity|interspecies interaction between organisms|leukocyte migration|lipid storage|maintenance of protein location in cell|mammary gland involution|membrane depolarization|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of endothelial cell proliferation|negative regulation of epithelial cell differentiation|negative regulation of nitric oxide biosynthetic process|negative regulation of peptidyl-serine phosphorylation|negative regulation of protein binding|negative regulation of transcription from RNA polymerase II promoter|nitric oxide homeostasis|nitric oxide metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of metalloenzyme activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of vasoconstriction|protein homooligomerization|receptor internalization|regulation of blood coagulation|regulation of fatty acid metabolic process|regulation of nitric-oxide synthase activity|regulation of smooth muscle contraction|response to calcium ion|response to estrogen stimulus|response to hypoxia|response to progesterone stimulus|skeletal muscle tissue development|T cell costimulation|triglyceride metabolic process|vasculogenesis|vesicle organization	apical plasma membrane|basolateral plasma membrane|caveola|cytosol|endoplasmic reticulum|endosome|Golgi membrane|lipid particle|perinuclear region of cytoplasm	cholesterol binding|nitric-oxide synthase binding|peptidase activator activity|protein binding|protein complex scaffold|receptor binding	g.chr7:116166689G>A	AF125348	CCDS5767.1, CCDS55156.1	7q31	2006-02-09	2002-08-29		ENSG00000105974	ENSG00000105974			1527	protein-coding gene	gene with protein product		601047	"""caveolin 1, caveolae protein, 22kD"""	CAV		10087206	Standard	NM_001753		Approved		uc003vif.2	Q03135	OTTHUMG00000023413	ENST00000341049.2:c.141G>A	7.37:g.116166689G>A			OREG0018273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1471	CAV1_ENST00000393470.1_Silent_p.K36K|CAV1_ENST00000393468.1_Silent_p.K16K|CAV1_ENST00000393467.1_Silent_p.K16K|CAV1_ENST00000405348.1_Silent_p.K16K	p.K47K	NM_001753.4	NP_001744.2	Q03135	CAV1_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		2	419	+	all_epithelial(6;1.42e-06)|Lung NSC(10;0.0056)|all_lung(10;0.00609)		47					Q9UGP1|Q9UNG1|Q9UQH6	Silent	SNP	ENST00000341049.2	37	c.141G>A	CCDS5767.1																																																																																				0.577	CAV1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059734.4	NM_001753		11	72	0	0	0	1	0	11	72				
ATP8A1	10396	broad.mit.edu	37	4	42590348	42590348	+	Splice_Site	SNP	T	T	G			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr4:42590348T>G	ENST00000381668.5	-	8	756		c.e8-2		ATP8A1_ENST00000264449.10_Splice_Site	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1						cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|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)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TGGGGCTCACTGTAGTTTGGA	0.358																																						ENST00000381668.5																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.e8-2		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						133.0	124.0	127.0					4																	42590348		2203	4300	6503	SO:0001630	splice_region_variant	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42590348T>G	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.525-2A>C	4.37:g.42590348T>G						ATP8A1_ENST00000264449.10_Splice_Site		NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN			8	756	-								Q32M35|Q32M36|Q4W5J7|Q4W5P2	Splice_Site	SNP	ENST00000381668.5	37		CCDS3466.1	.	.	.	.	.	.	.	.	.	.	T	13.58	2.279367	0.40294	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.22	0.73303	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATP8A1	42285105	1.000000	0.71417	0.995000	0.50966	0.355000	0.29361	7.992000	0.88273	2.062000	0.61559	0.528000	0.53228	.		0.358	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095	Intron	7	60	0	0	0	1	0	7	60				
RP11-206L10.10	0	broad.mit.edu	37	1	745643	745643	+	RNA	DEL	C	C	-	rs200097270	byFrequency	TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:745643delC	ENST00000435300.1	-	0	340				RP11-206L10.8_ENST00000447500.1_RNA																							TTCAAAGTGACAGACTGTGGG	0.299													|||unknown(NO_COVERAGE)	135	0.0269569	0.0234	0.0288	5008	,	,		20667	0.0		0.0417	False		,,,				2504	0.0429					ENST00000435300.1																			0																																																			0							g.chr1:745643delC																													1.37:g.745643delC														0	340	-									RNA	DEL	ENST00000435300.1	37																																																																																						0.299	RP11-206L10.10-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000007014.1			5	4						5	4	---	---	---	---
PTCH2	8643	broad.mit.edu	37	1	45295175	45295184	+	Frame_Shift_Del	DEL	AAGCGTTCTC	AAGCGTTCTC	-	rs575126296|rs201191113|rs373859654		TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:45295175_45295184delAAGCGTTCTC	ENST00000372192.3	-	9	1235_1244	c.1105_1114delGAGAACGCTT	c.(1105-1116)gagaacgcttccfs	p.ENAS369fs	PTCH2_ENST00000447098.2_Frame_Shift_Del_p.ENAS369fs	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	369					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					ATCTGCTGGGAAGCGTTCTCAGGCAGGGCC	0.61									Basal Cell Nevus syndrome																													ENST00000447098.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.(1105-1116)ccfs		patched 2																																				SO:0001589	frameshift_variant	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45295175_45295184delAAGCGTTCTC	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.1105_1114delGAGAACGCTT	1.37:g.45295175_45295184delAAGCGTTCTC	ENSP00000361266:p.Glu369fs					PTCH2_ENST00000372192.3_Frame_Shift_Del_p.ENAS369fs	p.ENAS369fs	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN			9	1116_1125	-	Acute lymphoblastic leukemia(166;0.155)		369					O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Frame_Shift_Del	DEL	ENST00000372192.3	37	c.1105_1114delGAGAACGCTT	CCDS516.1																																																																																				0.610	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		28	142						28	142	---	---	---	---
KCNK3	3777	broad.mit.edu	37	2	26950718	26950721	+	Frame_Shift_Del	DEL	TGGC	TGGC	-			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr2:26950718_26950721delTGGC	ENST00000302909.3	+	2	592_595	c.467_470delTGGC	c.(466-471)atggccfs	p.MA156fs		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	156					brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	GACGTGTCCATGGCCAACATGGTG	0.637																																					GBM(80;1457 1631 27100 45946)	ENST00000302909.3																			0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(466-471)acfs		potassium channel, subfamily K, member 3																																				SO:0001589	frameshift_variant	3777				synaptic transmission	integral to plasma membrane		g.chr2:26950718_26950721delTGGC	AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6278	protein-coding gene	gene with protein product		603220				9312005, 9721223, 16382106	Standard	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.467_470delTGGC	2.37:g.26950718_26950721delTGGC	ENSP00000306275:p.Met156fs						p.MA156fs	NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN			2	592_595	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		156					Q53SU2	Frame_Shift_Del	DEL	ENST00000302909.3	37	c.467_470delTGGC	CCDS1727.1																																																																																				0.637	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	NM_002246		12	101						12	101	---	---	---	---
NELFA	7469	broad.mit.edu	37	4	1985349	1985350	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr4:1985349_1985350insT	ENST00000411638.2	-	10	1390_1391	c.1375_1376insA	c.(1375-1377)atcfs	p.I459fs	NELFA_ENST00000542778.1_Frame_Shift_Ins_p.I324fs|NELFA_ENST00000382882.3_Frame_Shift_Ins_p.I470fs|MIR943_ENST00000401286.1_RNA	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	459					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)										GAAGCCCAGGATGAGGGCCTTC	0.668																																						ENST00000382882.3																			0											c.(1408-1410)cctfs		negative elongation factor complex member A																																				SO:0001589	frameshift_variant	7469							g.chr4:1985349_1985350insT	AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"""Wolf-Hirschhorn syndrome candidate 2"""	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.1376dupA	4.37:g.1985350_1985350dupT	ENSP00000399165:p.Ile459fs					NELFA_ENST00000542778.1_Frame_Shift_Ins_p.P324fs|NELFA_ENST00000411638.1_Frame_Shift_Ins_p.P459fs	p.P470fs	NM_005663.4	NP_005654.3					10	2525_2526	-								A2A2T1|O95392	Frame_Shift_Ins	INS	ENST00000411638.2	37	c.1408_1409insA																																																																																					0.668	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1	NM_005663		12	99						12	99	---	---	---	---
DOPEY1	23033	broad.mit.edu	37	6	83847865	83847872	+	Frame_Shift_Del	DEL	TGTGCTCC	TGTGCTCC	-			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr6:83847865_83847872delTGTGCTCC	ENST00000349129.2	+	21	4364_4371	c.4104_4111delTGTGCTCC	c.(4102-4113)catgtgctcctgfs	p.VLL1369fs	DOPEY1_ENST00000237163.5_Frame_Shift_Del_p.VLL1350fs|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Frame_Shift_Del_p.VLL1360fs	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1369					protein transport (GO:0015031)			p.L1370L(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCTATCAACATGTGCTCCTGTATCTCCA	0.409																																						ENST00000349129.2																			1	Substitution - coding silent(1)	p.L1370L(1)	large_intestine(1)	breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(4102-4113)catgfs		dopey family member 1																																				SO:0001589	frameshift_variant	23033				protein transport			g.chr6:83847865_83847872delTGTGCTCC	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.4104_4111delTGTGCTCC	6.37:g.83847865_83847872delTGTGCTCC	ENSP00000195654:p.Val1369fs					DOPEY1_ENST00000237163.5_Frame_Shift_Del_p.HVLL1349fs|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Frame_Shift_Del_p.HVLL1359fs	p.HVLL1368fs	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	21	4364_4371	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	1368					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Frame_Shift_Del	DEL	ENST00000349129.2	37	c.4104_4111delTGTGCTCC	CCDS4996.1																																																																																				0.409	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		8	137						8	137	---	---	---	---
TRIM24	8805	broad.mit.edu	37	7	138269520	138269521	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr7:138269520_138269521insT	ENST00000343526.4	+	19	3192_3193	c.2977_2978insT	c.(2977-2979)cttfs	p.L993fs	TRIM24_ENST00000415680.2_Frame_Shift_Ins_p.L959fs			O15164	TIF1A_HUMAN	tripartite motif containing 24	993					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TGGTATAAAACTTGAAAATTAT	0.297																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	ENST00000343526.4																			0				breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						c.(2977-2979)tgafs		tripartite motif containing 24																																				SO:0001589	frameshift_variant	8805				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:138269520_138269521insT	AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.2979dupT	7.37:g.138269522_138269522dupT	ENSP00000340507:p.Leu993fs					TRIM24_ENST00000415680.2_Frame_Shift_Ins_p.*959fs	p.*993fs			O15164	TIF1A_HUMAN			19	3192_3193	+			993					A4D1R7|A4D1R8|O95854	Frame_Shift_Ins	INS	ENST00000343526.4	37	c.2977_2978insT	CCDS5847.1																																																																																				0.297	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905		7	41						7	41	---	---	---	---
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs56831387|rs112413030|rs76614416	byFrequency	TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101									T cell receptor beta variable 29-1																		GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457														1983	0.395966	0.3812	0.5187	5008	,	,		21381	0.2222		0.5974	False		,,,				2504	0.3006					ENST00000422143.2																			0																	1374,2160		346,682,739						1.6	0.0		dbSNP_129	48	4141,3571		1278,1585,993	no	intergenic				1624,2267,1732	A1A1,A1R,RR		46.3045,38.8795,49.0397				5515,5731						28558							g.chr7:142448200_142448207delGGTGGAAA	L36092		7q34	2012-02-07			ENSG00000232869	ENSG00000232869		"""T cell receptors / TRB locus"""	12210	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV291, TCRBV29S1, TCRBV4S1A1T			OTTHUMG00000158898		7.37:g.142448208_142448215delGGTGGAAA														0	101	+									RNA	DEL	ENST00000422143.2	37																																																																																						0.457	TRBV29-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352510.1	NG_001333		3	3						3	3	---	---	---	---
PAXIP1	22976	broad.mit.edu	37	7	154782740	154782740	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr7:154782740delA	ENST00000404141.1	-	4	454	c.300delT	c.(298-300)tttfs	p.F100fs	PAXIP1_ENST00000397192.1_Frame_Shift_Del_p.F100fs|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	100	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with PAGR1. {ECO:0000250}.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CAGTGATTCCAAAAAAAATCT	0.333																																						ENST00000404141.1																			0				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33						c.(298-300)ttfs		PAX interacting (with transcription-activation domain) protein 1				16,3500		0,16,1742	47.0	45.0	45.0			5.3	1.0	7		46	34,7762		0,34,3864	no	frameshift	PAXIP1	NM_007349.3		0,50,5606	A1A1,A1R,RR		0.4361,0.4551,0.442			154782740	50,11262	1817	4069	5886	SO:0001589	frameshift_variant	22976				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix		g.chr7:154782740delA	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.300delT	7.37:g.154782740delA	ENSP00000384048:p.Phe100fs					PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Frame_Shift_Del_p.F100fs	p.F100fs			Q6ZW49	PAXI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)	4	454	-	all_neural(206;0.119)	all_hematologic(28;0.0592)	100			BRCT 2.|Interaction with PA1 (By similarity).		O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Frame_Shift_Del	DEL	ENST00000404141.1	37	c.300delT	CCDS47753.1																																																																																				0.333	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349		2	4						2	4	---	---	---	---
BMS1	9790	broad.mit.edu	37	10	43293939	43293941	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr10:43293939_43293941delGAT	ENST00000374518.5	+	12	2176_2178	c.2113_2115delGAT	c.(2113-2115)gatdel	p.D707del		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	707					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGAAGAAGAAGATGATGATACTC	0.433																																						ENST00000374518.4																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2113-2115)del		BMS1 ribosome biogenesis factor																																				SO:0001651	inframe_deletion	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43293939_43293941delGAT	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.2113_2115delGAT	10.37:g.43293945_43293947delGAT	ENSP00000363642:p.Asp707del						p.D707del	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			12	2176_2178	+			707					Q5QPT5|Q86XJ9	In_Frame_Del	DEL	ENST00000374518.5	37	c.2113_2115delGAT	CCDS7199.1																																																																																				0.433	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		14	80						14	80	---	---	---	---
PRKD1	5587	broad.mit.edu	37	14	30194874	30194874	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr14:30194874delC	ENST00000331968.5	-	2	500	c.271delG	c.(271-273)gaafs	p.E91fs	PRKD1_ENST00000415220.2_Frame_Shift_Del_p.E91fs	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	91					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		AAACCACATTCAGGGAACTGC	0.378																																						ENST00000331968.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78						c.(271-273)aafs		protein kinase D1							90.0	82.0	85.0					14																	30194874		2203	4300	6503	SO:0001589	frameshift_variant	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30194874delC		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.271delG	14.37:g.30194874delC	ENSP00000333568:p.Glu91fs					PRKD1_ENST00000415220.2_Frame_Shift_Del_p.E91fs	p.E91fs	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	2	500	-	Hepatocellular(127;0.0604)		91					A6NL64|B2RAF6	Frame_Shift_Del	DEL	ENST00000331968.5	37	c.271delG	CCDS9637.1																																																																																				0.378	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		10	69						10	69	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25465467	25465469	+	RNA	DEL	GAA	GAA	-	rs139379892|rs375695430	byFrequency	TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr15:25465467_25465469delGAA	ENST00000424208.1	+	0	3039				SNORD115-29_ENST00000362834.1_RNA|SNORD115-27_ENST00000364430.1_RNA|SNHG14_ENST00000365067.1_RNA|SNHG14_ENST00000453082.2_RNA|SNORD115-28_ENST00000363931.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		TGGTGAGACCGAAGAAGACTTGC	0.581														920	0.183706	0.0197	0.2651	5008	,	,		19755	0.0724		0.4324	False		,,,				2504	0.2065					ENST00000424208.1																			0																																																			104472715							g.chr15:25465467_25465469delGAA			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25465470_25465472delGAA						SNHG14_ENST00000453082.2_RNA		NR_003305.1						0	3039	+									RNA	DEL	ENST00000424208.1	37																																																																																						0.581	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			2	4						2	4	---	---	---	---
